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Center director:
Prof. Niels Tommerup
tommerup@imbg.ku.dk







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Publications, book chapters, posters etc.

Publications

293.   Gilling M, Rasmussen HB, Calloe K, Sequeira AF, Baretto M, Oliveira G, Almeida J, Lauritsen MB, Ullmann R, Boonen SE, Brondum-Nielsen K, Kalscheuer VM, Tümer Z, Vicente AM, Schmitt N, Tommerup N. Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders. Front Genet. 2013;4:54. doi: 10.3389/fgene.2013.00054.
 
292.   Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett E, Maeda Y, Aigner M, Reis A, Kinoshita T, Kinoshita T, Tommerup N, Baig SM, Jamra RA. Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability. Am J Hum Genet. 2013;92(4):575-83.
 
291.   Rieneck K, Bak M, Jønson L, Clausen FB, Krog GR, Tommerup N, Nielsen LK, Hedegaard M, Dziegiel MH. Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma. Transfusion. 2013 Apr 3. doi: 10.1111/trf.12172. [Epub ahead of print].
 
290.   Storm T, Tranebjærg L, Frykholm C, Birn H, Verroust PJ, Nevéus T, Sundelin B, Hertz JM, Holmström G, Ericson K, Christensen EI, Nielsen R. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transplant. 2013 Mar;28(3):585-91.
 
289.   Berryer MH, Hamdan FF, Klitten LL, Møller RS, Carmant L, Schwartzentruber J, Patry L, Dobrzeniecka S, Rochefort D, Neugnot M, Lacaille JC, Niu Z, Eng CM, Yang Y, Palardy S, Belhumeur C, Rouleau GA, Tommerup N, Immken L, Beauchamp MH, Patel GS, Majewski J, Tarnopolsky MA, Scheffzek K, Hjalgrim H, Michaud JL, Di Cristo G. Mutations in SYNGAP1 Cause Intellectual Disability, Autism and a Specific form of Epilepsy by Inducing Haploinsufficiency. Hum Mutat. 2013;34:385-94.
 
288.   Husu E, Hove HD, Farholt S, Bille M, Tranebjærg L, Vogel I, Kreiborg S. Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome. Clin Genet. 2013 Feb;83(2):125-34.
 
287.   Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA. 3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients. J Inherit Metab Dis. 2013 Jan 25. [Epub ahead of print].
 
286.   Rendtorff N, Schrijver I, Lodahl M, Rodriguez-Paris J, Johnsen T, Hansén E, Nickelsen L, Tümer Z, Fagerheim T, Wetke R, Tranebjaerg L. SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations. Clin Genet. 2013 Jan 22. doi: 10.1111/cge.12074. [Epub ahead of print].
 
285.   Møller RS, Weber YG, Klitten LL, Trucks H, Muhle H, Kunz WS, Mefford HC, Franke A, Kautza M, Wolf P, Dennig D, Schreiber S, Rückert IM, Wichmann HE, Ernst JP, Schurmann C, Grabe HJ, Tommerup N, Stephani U, Lerche H, Hjalgrim H, Helbig I, Sander T; EPICURE Consortium. Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy. Epilepsia. 2013 Jan 7. doi: 10.1111/epi.12078. [Epub ahead of print].
 
284.   Muhle H, Helbig I, Frøslev TG, Suls A, von Spiczak S, Klitten LL, Dahl HA, Brusgaard K, Neubauer B, De Jonghe P, Tommerup N, Stephani U, Hjalgrim H, Møller RS. The role of SLC2A1 in early onset and childhood absence epilepsies. Epilepsy Res. 2013 Jan 7. doi:pii: S0920-1211(12)00361-0. 10.1016/j.eplepsyres.2012.11.004. [Epub ahead of print].
 
283.   Tommerup N. General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses. Hum Mutat. 2013;34(1):vii.
 
282.   Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L, Vermeulen E, Salvaterra E, Tibben A, Dierickx K; PPPC of the European Society of Human Genetics. Developing a policy for paediatric biobanks: principles for good practice. Eur J Hum Genet. 2013 Jan;21(1):2-7.
 
281.   Herzer S, Silahtaroglu A, Meister B. Locked Nucleic Acid-Based In Situ Hybridization Reveals miR-7a as a Hypothalamus-Enriched MicroRNA with a Distinct Expression Pattern. J Neuroendocrinol. 2012;24:1492-504.
 
280.   Eskola PJ, Lemmelä S, Kjaer PK, Solovieva S, Männikkö M, Tommerup N, Lind-Thomsen A, Husgafvel-Pursiainen K, Cheung KMC, Chan D, Samartzis D, Karppinen J. Genetic Association Studies in Lumbar Disc Degeneration. A Systematic Review. PLoS One. 2012:7:e49995. doi:10.1371/journal.pone.0049995.
 
279.   Mogensen MS, Scheibye-Alsing K, Karlskov-Mortensen P, Proschowsky HF, Jensen VF, Bak M, Tommerup N, Kadarmideen HN, Fredholm M. Validation of genome-wide intervertebral disk calcification associations in dachshund and further investigation of the chromosome 12 susceptibility locus. Front Genet. 2012;3:225. doi: 10.3389/fgene.2012.00225. Epub 2012 Nov 1.
 
278.   Brøgger AL, Kwasny D, Bosco FG, Silahtaroglu A, Tümer Z, Boisen A, Svendsen WE. Centrifugally driven microfluidic disc for detection of chromosomal translocations. Lab Chip. 2012;12:4628-34.
 
277.   Podolska A, Anthon C, Bak M, Tommerup N, Skovgaard K, Heegaard PM, Gorodkin J, Cirera S, Fredholm M. Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae. BMC Genomics. 2012;13:459.
 
276.   Halgren C, Kjaergaard S, Bak M, Hansen C, El-Schich Z, Anderson CM, Henriksen KF, Hjalgrim H, Kirchhoff M, Bijlsma EK, Nielsen M, den Hollander NS, Ruivenkamp CA, Isidor B, Le Caignec C, Zannolli R, Mucciolo M, Renieri A, Mari F, Anderlid BM, Andrieux J, Dieux A, Tommerup N, Bache I. Corpus Callosum Abnormalities, Mental Retardation, Speech Impairment, and Autism in Patients with Haploinsufficiency of ARID1B. Clin Genet. 2012 Sep;82(3):248-55.
 
275.   Lage K, Greenway SC, Rosenfeld JA, Wakimoto H, Gorham JM, Segrè AV, Roberts AE, Smoot LB, Pu WT, Pereira AC, Mesquita SM, Tommerup N, Brunak S, Ballif BC, Shaffer LG, Donahoe PK, Daly MJ, Seidman JG, Seidman CE, Larsen LA. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A. 2012;109:14035-40.
 
274.   Jakobsen LP, Pfeiffer P, Andersen M, Eiberg H, Hansen L, Mang Y, Bak M, Møller RS, Klitten LL, Tommerup N. Genetic studies in congenital anterior midline cervical cleft. Am J Med Genet A. 2012;158A:2021-6.
 
273.   Bergman JE, Janssen N, van der Sloot AM, de Walle HE, Schoots J, Rendtorff ND, Tranebjaerg L, Hoefsloot LH, van Ravenswaaij-Arts CM, Hofstra RM. A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome. Hum Mutat. 2012 Aug;33(8):1251-60.
 
272.   Janssen N, Bergman JE, Swertz MA, Tranebjaerg L, Lodahl M, Schoots J, Hofstra RM, van Ravenswaaij-Arts CM, Hoefsloot LH. Mutation update on the CHD7 gene involved in CHARGE syndrome. Hum Mutat. 2012 Aug;33(8):1149-60.
 
271.   Kim HG, Kim HT, Leach NT, Lan F, Ullmann R, Silahtaroglu A, Kurth I, Nowka A, Seong IS, Shen Y, Talkowski ME, Ruderfer D, Lee JH, Glotzbach C, Ha K, Kjaergaard S, Levin AV, Romeike BF, Kleefstra T, Bartsch O, Elsea SH, Jabs EW, Macdonald ME, Harris DJ, Quade BJ, Ropers HH, Shaffer LG, Kutsche K, Layman LC, Tommerup N, Kalscheuer VM, Shi Y, Morton CC, Kim CH, Gusella JF. Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome Region Are Associated with Intellectual Disability and Craniofacial Anomalies. Am J Hum Genet. 2012;91:56-72.
 
270.   Hussain MS, Bakhtiar SM, Farooq M, Anjum I, Janzen E, Toliat MR, Eiberg H, Kjaer KW, Tommerup N, Noegel AA, Nürnberg P, Baig SM, Hansen L. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 2012 Jul 6;9999(999A). doi: 10.1111/j.1399-0004.2012.01932.x. [Epub ahead of print].
 
269.   Bugge M. Body stalk anomaly in Denmark during 20 years (1970-1989). Am J Med Genet A. 2012;158A:1702-8.
 
268.   Ha AD, Parratt KL, Rendtorff ND, Lodahl M, Ng K, Rowe DB, Sue CM, Hayes MW, Tranebjaerg L, Fung VS. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome. Mov Disord. 2012 Jul;27(8):1034-40.
 
267.   Homøe P, Koch A, Rendtorff ND, Lodahl M, Andersen T, Andersen S, Eiberg H, Nielsen IM, Tranebjærg L. GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland. Int J Audiol. 2012;51:433-6.
 
266.   Halgren C, Bache I, Bak M, Myatt MW, Anderson CM, Brøndum-Nielsen K, Tommerup N. Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity. Eur J Hum Genet. 2012 May 23. doi: 10.1038/ejhg.2012.92. [Epub ahead of print].
 
265.   Minocherhomji S, Seeman S, Mang Y, El-schich Z, Bak M, Hansen C, Papadopolous N, Nielsen H, Josefsen K, Gorodkin J, Tommerup N, Silahtaroglu A. Sequence and expression analysis of gaps in human chromosome 20. Nucleic Acids Res. 2012 Apr 17. [Epub ahead of print].
 
264.   Mercader JM, González JR, Lozano JJ, Bak M, Kauppinen S, Sumoy L, Dierssen M, Fernández-Aranda F, Visa J, Gratacòs M, Estivill X. Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model. Gene. 2012;497:181-90.
 
263.   Duong L, Klitten LL, Møller RS, Ingason A, Jakobsen KD, Skjødt C, Didriksen M, Hjalgrim H, Werge T, Tommerup N. Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders. Am J Med Genet B Neuropsychiatr Genet. 2012;159B:354-8.
 
262.   Sørensen KM, El-Segaier M, Fernlund E, Errami A, Bouvagnet P, Nehme N, Steensberg J, Hjortdal V, Soller M, Behjati M, Werge T, Kirchoff M, Schouten J, Tommerup N, Andersen PS, Larsen LA. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients. Am J Med Genet A. 2012;158A:720-5.
 
261.   Gásdal Karstensen H, Tommerup N. Isolated and syndromic forms of congenital anosmia. Clin Genet. 2012;81:210-5.
 
260.   Clemmensen SN, Bohr CT, Rørvig S, Glenthøj A, Mora-Jensen H, Cramer EP, Jacobsen LC, Larsen MT, Cowland JB, Tanassi JT, Heegaard NH, Wren JD, Silahtaroglu AN, Borregaard N. Olfactomedin 4 defines a subset of human neutrophils. J Leukoc Biol. 2012;91:495-500.
 
259.   Brøchner CB, Johansen JS, Larsen LA, Bak M, Mikkelsen HB, Byskov AG, Andersen CY, Møllgård K. Ykl-40 is Differentially Expressed in Human Embryonic Stem Cells and in Cell Progeny of the Three Germ Layers. J Histochem Cytochem. 2012;60:188-204.
 
258.   Dietrich N, Lerdrup M, Landt E, Agrawal-Singh S, Bak M, Tommerup N, Rappsilber J, Södersten E, Hansen K. REST-Mediated Recruitment of Polycomb Repressor Complexes in Mammalian Cells. PLoS Genet. 2012;8:e1002494.
 
257.   Engl G, Florian S, Tranebjærg L, Rapaport D. Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology. Hum Mol Genet. 2012;21:287-99.
 
256.   Kwasny D, Vedarethinam I, Shah P, Dimaki M, Silahtaroglu A, Tumer Z, Svendsen WE. Advanced microtechnologies for detection of chromosome abnormalities by fluorescent in situ hybridization. Biomed Microdevices. 2012;14:453-60.
 
255.   Boonen SE, Hahnemann JM, Mackay D, Tommerup N, Brøndum-Nielsen K, Tümer Z, Grønskov K. No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith-Wiedemann Syndrome. Eur J Hum Genet. 2012;20:119-21.
 
254.   Yuca SA, Rendtorff ND, Boulahbel H, Lodahl M, Tranebjærg L, Cesur Y, Dogan M, Yilmaz C, Akgun C, Acikgoz M. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro). Eur J Med Genet. 2012;55:37-42.
 
253.   Klitten LL, Møller RS, Nikanorova M, Silahtaroglu A, Hjalgrim H, Tommerup N. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA). Epilepsia. 2011;52:e190-3.
 
252.   Kariminejad R, Lind-Thomsen A, Tümer Z, Erdogan F, Ropers HH, Tommerup N, Ullmann R, Møller RS. High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations. Hum Mutat. 2011;32:1427-35.
 
251.   Schönewolf-Greulich B, Ronan A, Ravn K, Baekgaard P, Lodahl M, Nielsen K, Rendtorff ND, Tranebjaerg L, Brøndum-Nielsen K, Tümer Z. Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. Am J Med Genet A. 2011;155:2964-9.
 
250.   Schmitz SU, Albert M, Malatesta M, Morey L, Johansen JV, Bak M, Tommerup N, Abarrategui I, Helin K. Jarid1b targets genes regulating development and is involved in neural differentiation. EMBO J. 2011;30:4586-600.
 
249.   Schneider M, Andersen DC, Silahtaroglu A, Lyngbæk S, Kauppinen S, Hansen JL, Sheikh SP. Cell-specific detection of microRNA expression during cardiomyogenesis by combined in situ hybridization and immunohistochemistry. J Mol Histol. 2011;42:289-99.
 
248.   Chen N, Tranebjærg L, Rendtorff ND, Schrijver I. Mutation Analysis of SLC26A4 for pendred syndrome and nonsyndromic hearing loss by high-resolution melting. J Mol Diagn. 2011;13:416-26.
 
247.   Rehman SU, Baig SM, Eiberg H, Rehman SU, Ahmad I, Malik NA, Tommerup N, Hansen L. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel. Neurogenetics. 2011;12:247-51.
 
246.   Rendtorff ND, Lodahl M, Boulahbel H, Johansen IR, Pandya A, Welch KO, Norris VW, Arnos KS, Bitner-Glindzicz M, Emery SB, Mets MB, Fagerheim T, Eriksson K, Hansen L, Bruhn H, Möller C, Lindholm S, Ensgaard S, Lesperance MM, Tranebjaerg L. Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A. 2011;155A:1298-313.
 
245.   Skovgaard O, Bak M, Løbner-Olesen A, Tommerup N. Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing. Genome Res. 2011;21:1388-93.
 
244.   Eskildsen T, Taipaleenmäki H, Stenvang J, Abdallah BM, Ditzel N, Nossent AY, Bak M, Kauppinen S, Kassem M. MicroRNA-138 regulates osteogenic differentiation of human stromal (mesenchymal) stem cells in vivo. PNAS 2011;108:6139-44.
 
243.   Shah PJ, Indumathi V, Kwasny D, Andresen L, Skov S, Silahtaroglu A, Tümer Z, Dimaki M, Svendsen WE. FISHprep: A Novel Integrated Device for Metaphase FISH Sample Preparation. Micromachines 2011;2:116-28.
 
242.   Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC. Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders. Eur J Hum Genet. 2011;19 Suppl 1:S6-44.
 
241.   Gilling M, Lind-Thomsen A, Mang Y, Bak M, Møller M, Ullmann R, Kristoffersson U, Kalscheuer VM, Henriksen KF, Bugge M, Tümer Z, Tommerup N. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur J Med Genet. 2011;54:e383-8.
 
240.   Larsen LA. [Chromosomal changes in congenital heart disease]. Ugeskr Laeger. 2011;173:194-6. Danish.
 
239.   Wesolowska A, Dalgaard MD, Borst L, Gautier L, Bak M, Weinhold N, Nielsen BF, Helt LR, Audouze K, Nersting J, Tommerup N, Brunak S, Sicheritz-Ponten T, Leffers H, Schmiegelow K, Gupta R. Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia. Leukemia. 2011;25:1001-6.
 
238.   Hansen L, Riis AK, Silahtaropglu A, Hove H, Lauridsen E, Eiberg H, Kreiborg S. RUNX2 analysis of Danish cleidocranial dysplasia families. Clin Genet 2011:79:254-263.
 
237.   Koppelhus U, Tranebjaerg L, Esberg G, Ramsing M, Lodahl M, Rendtorff ND, Olesen HV, Sommerlund M. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. Clin Exp Dermatol. 2011;36:142-8.
 
236.   Bech S, Nørremølle A, Winge K, Hasholt L, Tommerup N, Svenstrup K, Nielsen JE, Hjermind LE. The lrrk2 p.Gly2019Ser mutation is uncommon in a Danish cohort with various neurodegenerative disorders. Parkinsonism Relat Disord. 2011;17:398-9.
 
235.   Jakobsen LP, Bugge M, Ullmann R, Schjerling CK, Borup R, Hansen L, Eiberg H, Tommerup N. 500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip. Am J Med Genet A. 2011;155A:652-5.
 
234.   Boonen SE, Hoffmann AL, Donnai D, Tümer Z. Diploid/triploid mosaicism: A rare event or an under-diagnosed syndrome?. Eur J Med Genet. 2011;54:374-5.
 
233.   Buonincontri R, Bache I, Silahtaroglu A, Elbro C, Nielsen AM, Ullmann R, Arkesteijn G, Tommerup N. A Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1. Behav Genet. 2011;41:125-33.
 
232.   Klitten LL, Møller RS, Ravn K, Hjalgrim H, Tommerup N. Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. Eur J Hum Genet. 2011;19:1-2.
 
231.   Cingöz S, Bache I, Bjerglund L, Ropers HH, Tommerup N, Jensen H, Brøndum-Nielsen K, Tümer Z. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects. Am J Med Genet A. 2011;155A:203-6.
 
230.   Kokotas H, Grigoriadou M, Yang L, Lodahl M, Rendtorff ND, Gyftodimou Y, Korres GS, Ferekidou E, Kandiloros D, Korres S, Tranebjærg L, Guan MX, Petersen MB. Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss. Int J Pediatr Otorhinolaryngol. 2011;75:89-94.
 
229.   Sun C, Van Ghelue M, Tranebjaerg L, Thyssen F, Nilssen O, Torbergsen T. Myotonia congenita and myotonic dystrophy in the same family: coexistence of a CLCN1 mutation and expansion in the CNBP (ZNF9) gene. Clin Genet. 2010 Dec 15. doi: 10.1111/j.1399-0004.2010.01616.x. [Epub ahead of print].
 
228.   Sehested LT, Møller RS, Bache I, Andersen NB, Ullmann R, Tommerup N, Tümer Z. Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features. Am J Med Genet A. 2010;152A:3115-9.
 
227.   Vedarethinam I, Shah P, Dimaki M, Tumer Z, Tommerup N, Svendsen WE. Rapid Metaphase FISH on chip: Miniaturized microfluidic device for rapid in-situ hybridization. Sensors 2010;10:9831-46.
 
226.   Silahtaroglu A, Stenvang J. MicroRNAs, epigenetics and disease. Essays Biochem. 2010;48:165-85.
 
225.   Silahtaroglu AN. LNA-FISH for Detection of MicroRNAs in Frozen Sections. Methods Mol Biol. 2010;659:165-71.
 
224.   Sempere LF, Preis M, Yezefski T, Ouyang H, Suriawinata AA, Silahtaroglu A, Conejo-Garcia JR, Kauppinen S, Wells W, Korc M. Fluorescence-Based Codetection with Protein Markers Reveals Distinct Cellular Compartments for Altered MicroRNA Expression in Solid Tumors. Clin Cancer Res. 2010;16:4246-55.
 
223.   Minocherhomji S, Madon PF, Parikh FR. Epigenetic regulatory mechanisms associated with infertility. Obstet Gynecol Int. 2010;2010. pii: 198709. Epub 2010 Aug 5.
 
222.   Bugge M. Twins with omphalocele in Denmark (1970-1989). Am J Med Genet A. 2010;152A:2048-52.
 
221.   Hébert SS, Papadopoulou AS, Smith P, Galas MC, Planel E, Silahtaroglu AN, Sergeant N, Buée L, De Strooper B. Genetic ablation of Dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration. Hum Mol Genet. 2010;19:3959-69.
 
220.   Reisner W, Larsen NB, Silahtaroglu A, Kristensen A, Tommerup N, Tegenfeldt JO, Flyvbjerg H. Single-molecule denaturation mapping of DNA in nanofluidic channels. Proc Natl Acad Sci U S A. 2010;107:13294-9.
 
219.   Lage K, Møllgård K, Greenway S, Wakimoto H, Gorham JM, Workman CT, Bendsen E, Hansen NT, Rigina O, Roque FS, Wiese C, Christoffels VM, Roberts AE, Smoot LB, Pu WT, Donahoe PK, Tommerup N, Brunak S, Seidman CE, Seidman JG, Larsen LA. Dissecting spatio-temporal protein networks driving human heart development and related disorders. Mol Syst Biol. 2010 Jun 22;6:381.
 
218.   Boyd M, Hansen M, Jensen TG, Perearnau A, Olsen AK, Bram LL, Bak M, Tommerup N, Olsen J, Troelsen JT. Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2). J Biol Chem. 2010;285:25115-25.
 
217.   Thienpont B, Zhang L, Postma AV, Breckpot J, Tranchevent LC, Van Loo P, Møllgård K, Tommerup N, Bache I, Tümer Z, van Engelen K, Menten B, Mortier G, Waggoner D, Gewillig M, Moreau Y, Devriendt K, Larsen LA. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans. Am J Hum Genet. 2010;86:839-49.
 
216.   Kleine-Kohlbrecher D, Christensen J, Vandamme J, Abarrategui I, Bak M, Tommerup N, Shi X, Gozani O, Rappsilber J, Salcini AE, Helin K. A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation. Mol Cell 2010;38:165-78.
 
215.   Basel-Vanagaite L, Pasmanik-Chor M, Lurie R, Yeheskel A, Kjaer KW. CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. Mol Syndromol. 2010;1(5):223-230. Epub 2011 Apr 7.
 
214.   Anjum I, Eiberg H, Baig SM, Tommerup N, Hansen L. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. Mol Vis. 2010 ;16:549-55.
 
213.   Pasini D, Cloos PAC, Walfridsson J, Olsson L, Bukowski J-P, Johansen JV, Bak M, Tommerup N, Rappsilber J, Helin K. JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells. Nature. 2010;464:306-10.
 
212.   Liu X, Sempere LF, Ouyang H, Memoli VA, Andrew AS, Luo Y, Demidenko E, Korc M, Shi W, Preis M, Dragnev KH, Li H, Direnzo J, Bak M, Freemantle SJ, Kauppinen S, Dmitrovsky E. MicroRNA-31 functions as an oncogenic microRNA in mouse and human lung cancer cells by repressing specific tumor suppressors. J Clin Invest. 2010;120:1298-1309.
 
211.   Sørensen KM, Agergaard P, Olesen C, Andersen PS, Larsen LA, Ostergaard JR, Schouten JP, Christiansen M. Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples. J Mol Diagn. 2010;12:147-51.
 
210.   Jørgensen KT, Rostgaard K, Bache I, Biggar RJ, Nielsen NM, Tommerup N, Frisch M. Autoimmune diseases in women with Turners Syndrome. Arthritis Rheum. 2010;62:658-66.
 
209.   Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MTP, Wang Y, Raghavan M, Campos P, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li X, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre T, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham T, Ramsey CB, Hansen TvO, Nielsen FC, Crawford M, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature 2010;463:757-62.
 
208.   Morisada N, Rendtorff ND, Nozu K, Morishita T, Miyakawa T, Matsumoto T, Hisano S, Iijima K, Tranebjærg L, Shirahata A, Matsuo M, Kusuhara K. Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. Pediatr Nephrol. 2010;25:1343-8.
 
207.   Farooq M, Baig S, Tommerup N, Kjaer KW. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. Am J Med Genet A. 2010;152A:495-7.
 
206.   Farooq M, Troelsen JT, Boyd M, Eiberg H, Hansen L, Hussain MS, Rehman SU, Azhar A, Ali A, Bakhtiar SM, Tommerup N, Baig SM, Kjaer KW. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS. Eur J Hum Genet. 2010;18:733-6.
 
205.   Christensen M, Larsen LA, Kauppinen S, Schratt G. Recombinant Adeno-Associated Virus-Mediated microRNA Delivery into the Postnatal Mouse Brain Reveals a Role for miR-134 in Dendritogenesis in Vivo. Front Neural Circuits. 2010;3:16.
 
204.   de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T. Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies. Brain. 2010;133:23-32.
 
203.   Clement CA, Larsen LA, Christensen ST. Using nucleofection of siRNA constructs for knockdown of primary cilia in P19.CL6 cancer stem cell differentiation into cardiomyocytes. Methods Cell Biol. 2009;94:181-97.
 
202.   Christensen M, Schratt GM. microRNA involvement in developmental and functional aspects of the nervous system and in neurological diseases. Neuroscience Letters 2009;466:55-62.
 
201.   Topsakal V, Hilgert N, van Dinther J, Tranebjærg L, Rendtorff ND, Zarowski A, Offeciers E, Van Camp G, van de Heyning P. Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations. Audiol Neurootol. 2009;15:211-20.
 
200.   Dibbens LM, Mullen S, Helbig I, Mefford HC, Bayly MA, Bellows S, Leu C, Trucks H, Obermeier T, Wittig M, Franke A, Caglayan H, Yapici Z; EPICURE Consortium*, Sander T, Eichler EE, Scheffer IE, Mulley JC, Berkovic SF. *De Jonghe P, Suls A, Hjalgrim H, Madsen JM, Møller RS, Lehesjoki AE, Siren A, Gaus V, Janz D, Schmitz B, Sander T, Elger CE, Hallmann K, Kleefuss-Lie AA, Kunz WS, Raabe A, Helbig I, Muhle H, Ostertag P, Obermeier T, von Spiczak S, Stephani U, Lerche H, Weber YG, Striano P, Zara F, Marini C, Brilstra EH, Trenité DK, Koeleman BP, de Kovel CG, Lindhout D, Caglayan H, Yalcin O, Yapici Z, Baykan B, Yalcin D, Turkdogan D, Dizdarer G, Ozkara C, Lee Y, Müller-Quernheim J, Fölster-Holst R, Franke A, Hofmann S, Nebel A, Schreiber S, Wittig M, Schürmann M, Rodriguez E, Weidinger S, Baurecht H, Lie BA, Boberg KM, Karlsen TH. Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Hum Mol Genet. 2009;18:3626-31.
 
199.   Worm J, Stenvang J, Petri A, Frederiksen KS, Obad S, Elmén J, Hedtjärn M, Straarup EM, Hansen JB, Kauppinen S. Silencing of microRNA-155 in mice during acute inflammatory response leads to derepression of c/ebp Beta and down-regulation of G-CSF. Nucleic Acids Res. 2009;37:5784-92.
 
198.   Clement CA, Kristensen SG, Møllgård K, Pazour GJ, Yoder BK, Larsen LA, Christensen ST. The primary cilium coordinates early cardiogenesis and hedgehog signaling in cardiomyocyte differentiation. J Cell Sci. 2009;122:3070-82.
 
197.   Hilhorst-Hofstee Y, Tümer Z, Born P, Knijnenburg J, Hansson K, Yatawara V, Steensberg J, Ullmann R, Arkesteijn G, Tommerup N, Larsen LA. Molecular characterization of two patients with de novo interstitial deletions in 4q22-q24. Am J Med Genet A. 2009;149A:1830-3.
 
196.   Hansen L, Mikkelsen A, Nürnberg P, Nürnberg G, Anjum I, Eiberg H, Rosenberg T. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009; 50:3291-3303.
 
195.   Kocerha J, Kauppinen S, Wahlestedt C. microRNAs in CNS Disorders. Neuromolecular Med. 2009;11:162-72.
 
194.   Dyrskjøt L, Ostenfeld MS, Bramsen JB, Silahtaroglu AN, Lamy P, Ramanathan R, Fristrup N, Jensen JL, Andersen CL, Zieger K, Kauppinen S, Ulhøi BP, Kjems J, Borre M, Orntoft TF. Genomic profiling of microRNAs in bladder cancer: miR-129 is associated with poor outcome and promotes cell death in vitro. Cancer Res. 2009;69:4851-60.
 
193.   Kjaer KW, Tiner M, Cingoz S, Karatosun V, Tommerup N, Mundlos S, Gunal I. A novel subtype of distal symphalangism affecting only the 4th finger. Am J Med Genet A. 2009;149:1571-3.
 
192.   Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K; Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG). Collaborators: Cornel M, Evers-Kiebooms G, Ayme S, Braga S, Bricarelli FD, Hodgson S, Kosztolany G, Lubinski J, Ozgüc M, Patch C, Sequeiros J, Tranebjaerg L, van Heyningen V. Genetic testing in asymptomatic minors: background considerations towards ESHG Recommendations. Eur J Hum Genet. 2009;17:711-9.
 
191.   European Society of Human Genetics. Cornel M, Evers-Kiebooms G, Ayme S, Braga S, Bricarelli FD, Hodgson S, Kosztolany G, Lubinski J, Ozgüc M, Patch C, Sequeiros J, Tranebjaerg L, van Heyningen V, Borry P, Dierickx K, Clarke A. Genetic testing in asymptomatic minors: Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2009;17:720-1.
 
190.   Hoff G, Grotmol T, Skovlund E, Bretthauer M; Norwegian Colorectal Cancer Prevention Study Group. Risk of colorectal cancer seven years after flexible sigmoidoscopy screening: randomised controlled trial. BMJ. 2009;338:b1846. doi: 10.1136/bmj.b1846.
 
189.   Siegel G, Obernosterer G, Fiore R, Oehmen M, Bicker S, Christensen M, Khudayberdiev S, Leuschner PF, Busch CJ, Kane C, Hübel K, Dekker F, Hedberg C, Rengarajan B, Drepper C, Waldmann H, Kauppinen S, Greenberg ME, Draguhn A, Rehmsmeier M, Martinez J, Schratt GM. A functional screen implicates microRNA-138-dependent regulation of the depalmitoylation enzyme APT1 in dendritic spine morphogenesis. Nat Cell Biol. 2009;11:705-16.
 
188.   Muhammad F, Mahmood Baig S, Hansen L, Sajid Hussain M, Anjum Inayat I, Aslam M, Anver Qureshi J, Toilat M, Kirst E, Wajid M, Nürnberg P, Eiberg H, Tommerup N, Kjaer KW. Compound heterozygous ASPM mutations in Pakistani MCPH families. Am J Med Genet A. 2009;149:926-30.
 
187.   Kirchhoff M, Bisgaard AM, Stoeva R, Dimitrov B, Gillessen-Kaesbach G, Fryns JP, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Skovby F, Stefanova M. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map of 13q21.1-qter. Am J Med Genet A. 2009;149:894-905.
 
186.   Klitten LL, Tommerup N, Hjalgrim H, Møller RS. 9q Subtelomeric deletion syndrome with diaphragmatic hernia. Am J Med Genet A. 2009;149:1086-8.
 
185.   Brudzewsky D, Pedersen AE, Claesson MH, Gad M, Kristensen NN, Lage K, Jensen T, Tommerup N, Larsen LA, Knudsen S, Tümer Z. Genome-wide gene expression profiling of SCID mice with T-cell-mediated Colitis. Scand J Immunol. 2009;69:437-46.
 
184.   Scheibye-Alsing K, Hoffmann S, Frankel A, Jensen P, Stadler PF, Mang Y, Tommerup N, Gilchrist MJ, Nygård A-B, Cirera S, Jørgensen CB, Fredholm M, Gorodkin J. Sequence assembly. Comput Biol Chem. 2009;33:121-36.
 
183.   Dathe K, Kjaer KW, Brehm A, Meinecke P, Nürnberg P, Neto JC, Brunoni D, Tommerup N, Ott CE, Klopocki E, Seemann P, Mundlos S. Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2. Am J Hum Genet. 2009;84:483-92.
 
182.   Kocerha J, Faghihi MA, Lopez-Toledano MA, Huang J, Ramsey AJ, Caron MG, Sales N, Willoughby D, Elmen J, Hansen HF, Orum H, Kauppinen S, Kenny PJ, Wahlestedt C. MicroRNA-219 modulates NMDA receptor-mediated neurobehavioral dysfunction. Proc Natl Acad Sci U S A. 2009;106:3507-12.
 
181.   Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Bie Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H. Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Hum Mutat. 2009;30:363-70.
 
180.   Jakobsen LP, Borup R, Vestergaard J, Larsen LA, Lage K, Maroun LL, Kjaer I, Niemann CU, Andersen M, Knudsen MA, Møllgård K, Tommerup N. Expression analyses of human cleft palate tissue suggest a role for osteopontin and immune related factors in palatal development. Exp Mol Med. 2009;41:77-85.
 
179.   Liu X, Sempere LF, Galimberti F, Freemantle SJ, Black C, Dragnev KH, Ma Y, Fiering S, Memoli V, Li H, Direnzo J, Korc M, Cole CN, Bak M, Kauppinen S, Dmitrovsky E. Uncovering Growth-Suppressive MicroRNAs in Lung Cancer. Clin Cancer Res. 2009;15:1177-83.
 
178.   Zhang L, Tümer Z, Møllgård K, Barbi G, Rossier E, Bendsen E, Møller RS, Ullmann R, He J, Papadopoulos N, Tommerup N, Larsen LA. Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development. Eur J Hum Genet. 2009;17:1010-8.
 
177.   Petri A, Lindow M, Kauppinen S. MicroRNA silencing in primates: towards development of novel therapeutics. Cancer Res. 2009;69:393-5.
 
176.   Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuß-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T. 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet. 2009;41:160-2.
 
175.   Kalscheuer VM, Musante L, Fang C, Hoffmann K, Fuchs C, Carta E, Deas E, Venkateswarlu K, Menzel C, Ullmann R, Tommerup N, Dalprà L, Tzschach A, Selicorni A, Lüscher B, Ropers HH, Harvey K, Harvey RJ. A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. Hum Mutat. 2009;30:61-8.
 
174.   Kragelund C, Hansen C, Reibel J, Nauntofte B, Broesen K, Pedersen AM, Smidt D, Eiberg H, Torpet LA. Polymorphic drug metabolizing CYP-enzymes--a pathogenic factor in oral lichen planus?. J Oral Pathol Med. 2009;38:63-71.
 
173.   Nicolas FE, Pais H, Schwach F, Lindow M, Kauppinen S, Moulton V, Dalmay T. Experimental identification of microRNA-140 targets by silencing and overexpressing miR-140. RNA. 2008;14:2513-20.
 
172.   Stenvang J, Lindow M, Kauppinen S. Targeting of microRNAs for therapeutics. Biochem Soc Trans. 2008;36:1197-200.
 
171.   Sørensen KM, Andersen PS, Larsen LA, Schwartz M, Schouten JP, Nygren AO. Multiplex Ligation-Dependent Probe Amplification Technique for Copy Number Analysis on Small Amounts of DNA Material. Anal Chem. 2008;80:9363-8.
 
170.   Erdogan F, Larsen LA, Zhang L, Tumer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers HH, Ullmann R. High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease. J Med Genet. 2008;45:704-9.
 
169.   Buysse K, Crepel A, Menten B, Pattyn F, Antonacci F, Veltman J, Larsen LA, Tumer Z, de Klein A, van de Laar I, Devriendt K, Mortier G, Speleman F. Mapping of 5q35 chromosomal rearrangements within a genomically unstable region. J Med Genet. 2008;45:672-8.
 
168.   Tészás A, Møller RS, Kellermayer R, Czakó M, Kjaer KW, Ullmann R, Melegh B, Tommerup N, Kosztolányi G. A cryptic unbalanced translocation resulting in del 13q and dup 15q. Am J Med Genet A. 2008;146A:2570-3.
 
167.   Kaalund SS, Møller RS, Tészás A, Miranda M, Kosztolanyi G, Ullmann R, Tommerup N, Tümer Z. Investigation of 4q-deletion in two unrelated patients using array CGH. Am J Med Genet A. 2008;146A:2431-4.
 
166.   Tranebjærg L. Genetics of congenital hearing impairment: a clinical approach. Int J Audiol. 2008;47:535-45 (Review).
 
165.   Kragelund C, Hansen C, Torpet LA, Nauntofte B, Brøsen K, Pedersen AM, Buchwald C, Therkildsen MH, Reibel J. Expression of two drug-metabolizing cytochrome P450-enzymes in human salivary glands. Oral Dis. 2008;14:533-40.
 
164.   ESHG Working Party on Patenting and Licensing. Aymé S, Matthijs G, Anastasiadou V, Atalar F, Braga S, Burn J, Cassiman JJ, Cornel M, Coviello D, Evers-Kiebooms G, Gorry P, Hodgson S, Kääriäinen H, Kosztolányi G, Kristoffersson U, Macek M Jr, Patch C, Schmidtke J, Sequeiros J, Stoppa-Lyonnet D, Tranebjaerg L, van Heyningen V, van Ommen GJ. Patenting and licensing in genetic testing. Eur J Hum Genet. 2008;16:405-11.
 
163.   Schepeler T, Reinert JT, Ostenfeld MS, Christensen LL, Silahtaroglu AN, Dyrskjøt L, Wiuf C, Sørensen FJ, Kruhøffer M, Laurberg S, Kauppinen S, Ørntoft TF, Andersen CL. Diagnostic and prognostic microRNAs in stage II colon cancer. Cancer Research. 2008;68:6416-24.
 
162.   Anttonen AK, Siintola E, Tranebjaerg L, Iwata NK, Bijlsma EK, Meguro H, Ichikawa Y, Goto J, Kopra O, Lehesjoki AE. Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet. 2008;16:961-9.
 
161.   Bahmad F, O’Malley J, Tranebjærg L, Merchant SN. Histopathology of nonsyndromic autosomal dominant mid-frequency sensorineural hearing loss. Otol Neurotol. 2008;29:535-45.
 
160.   Sonnesen L, Nolting D, Kjaer KW, Kjaer I. Association between the development of the body axis and the craniofacial skeleton studied by immunohistochemical analyses using collagen II, Pax9, Pax1, and Noggin antibodies. Spine. 2008;33:1622-6.
 
159.   de Medeiros F, Hansen L, Mawlad E, Eiberg H, Asklund C, Tommerup N, Jakobsen LP. A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. Am J Med Genet A. 2008;146:1605-8.
 
158.   Engenheiro E, Møller RS, Pinto M, Soares G, Nikanorova M, Carreira IM, Ullmann R, Tommerup N, Tümer Z. Mowat-Wilson syndrome: an underdiagnosed syndrome?. Clin Genet. 2008;73:579-84.
 
157.   Moller RS, Schneider LM, Hansen CP, Bugge M, Ullmann R, Tommerup N, Tümer Z. Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A. Epilepsia. 2008;49:1091-4.
 
156.   Plöger F, Seemann P, Schmidt-von Kegler M, Lehmann K, Seidel J, Kjaer KW, Pohl J, Mundlos S. Brachydactyly Type A2 Associated with a Defect in proGDF5 Processing. Hum Mol Genet. 2008;17:1222-33.
 
155.   Vestergaard J, Lind-Thomsen A, Pedersen MW, Ostergaard Jarmer H, Bak M, Hasholt L, Tommerup N, Tümer Z, Larsen LA. GLI1 Is Involved in Cell Cycle Regulation and Proliferation of NT2 Embryonal Carcinoma Stem Cells. DNA Cell Biol. 2008;27:251-6.
 
154.   Møller RS, Kübart S, Hoeltzenbein M, Heye B, Vogel I, Hansen CP, Menzel C, Ullmann R, Tommerup N, Ropers HH, Tümer Z, Kalscheuer VM. Truncation of the Down Syndrome Candidate Gene DYRK1A in Two Unrelated Patients with Microcephaly. Am J Hum Genet. 2008;82:1165-70.
 
153.   Soini S, Aymé S, Matthijs G. Public and Professional Policy Committee and Patenting and Licensing: Anastasiadou V, Aymé S, Atalar F, Braga S, Burn J, Cassiman JJ, Cornel M, Coviello D, Evers-Kiebooms G, Gorry P, Hodgson S, Kääriäinen H, Kosztolányi G, Kristoffersson U, Macek M Jr, Matthijs G, Patch C, Schmidtke J, Sequeiros J, Stoppa-Lyonnet D, Tranebjoerg L, van Heyningen V, van Ommen GJ. Patenting and licensing in genetic testing. Eur J Hum Genet. 2008;16 Suppl 1:S10-50.
 
152.   Hébert SS, Horré K, Nicolaï L, Papadopoulou AS, Mandemakers W, Silahtaroglu AN, Kauppinen S, Delacourte A, De Strooper B. Loss of microRNA cluster miR-29a/b-1 in sporadic Alzheimers disease correlates with increased BACE1/beta-secretase expression. Proc Natl Acad Sci U S A. 2008;105:6415-20.
 
151.   Elmén J, Lindow M, Schütz S, Lawrence M, Petri M, Obad S, Lindholm M, Hedtjärn M, Hansen HF, Berger U, Gullans S, Kearney P, Sarnow P, Straarup EM, Kauppinen S. LNA-mediated microRNA silencing in non-human primates. Nature. 2008;452:896-9.
 
150.   Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjærg L. A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family. Am J Med Genet A. 2008;146:1017-25.
 
149.   Stenvang J, Silahtaroglu AN, Lindow M, Elmen J, Kauppinen S. The utility of LNA in microRNA-based cancer diagnostics and therapeutics. Semin Cancer Biol. 2008;18:89-102.
 
148.   Kauppinen S, Havelda Z. Detection of siRNAs and miRNAs. Methods Mol Biol. 2008;451:217-27.
 
147.   Gilling M, Lauritsen MB, Møller M, Henriksen KF, Vicente A, Oliveira G, Cintin C, Eiberg H, Andersen PS, Mors O, Rosenberg T, Brøndum-Nielsen K, Cotterill RM, Lundsteen C, Ropers HH, Ullmann R, Bache I, Tümer Z, Tommerup N. A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. Eur J Hum Genet. 2008;16:312-9.
 
146.   Elmén J, Lindow M, Silahtaroglu A, Bak M, Christensen M, Lind-Thomsen A, Hedtjärn M, Hansen JB, Hansen HF, Straarup EM, McCullagh K, Kearney P, Kauppinen S. Antagonism of microRNA-122 in mice by systemically administered LNA-antimiR leads to up-regulation of a large set of predicted target mRNAs in the liver. Nucleic Acids Res. 2008;36:1153-62.
 
145.   Bak M, Silahtaroglu A, Møller M, Christensen M, Rath MF, Skryabin B, Tommerup N, Kauppinen S. MicroRNA expression in the adult mouse central nervous system. RNA. 2008;14:432-44.
 
144.   Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum Genet. 2008;123:177-87.
 
143.   Dreyer B, Brox V, Tranebjærg L, Rosenberg T, Mehdi AM, Möller C, Nilssen Ø. Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat. 2008;29:451.
 
142.   Torarinsson E, Yao Z, Wiklund ED, Bramsen JB, Hansen C, Kjems J, Tommerup N, Ruzzo WL, Gorodkin J. Comparative genomics beyond sequence-based alignments: RNA structures in the ENCODE regions. Genome Res. 2008;18:242-51.
 
141.   Wissinger B, Dangel S, Jägle H, Hansen L, Baumann B, Rudolph G, Wolf C, Bonin M, Koeppen K, Ladewig T, Kohl S, Zrenner E, Rosenberg T. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2. Invest Ophthalmol Vis Sci. 2008;49:751-7.
 
140.   Erdogan F, Belloso JM, Gabau E, Ajbro KD, Guitart M, Ropers HH, Tommerup N, Ullmann R, Tümer Z, Larsen LA. Fine mapping of a de novo interstitial 10q22-q23 duplication in a patient with congenital heart disease and microcephaly. Eur J Med Genet. 2008;51:81-6.
 
139.   Brookes JT, Kanis AB, Tan LY, Tranebjærg L, Vore A, Smith RJH. Cochlear implantation in deafness-dystonia-opric neuronopathy (DDON) syndrome. Int J Ped Otorhinolaryngol. 2008;72:121-6.
 
138.   Stenvang J, Kauppinen S. MicroRNAs as targets for antisense-based therapeutics. Expert Opin Biol Ther. 2008;8:59-81.
 
137.   Sempere LF, Christensen M, Silahtaroglu A, Bak M, Heath CV, Schwartz G, Wells W, Kauppinen S, Cole CN. Altered MicroRNA expression confined to specific epithelial cell subpopulations in breast cancer. Cancer Res. 2007;67:11612-20.
 
136.   Moller R, Hansen C, Jackson G, Ullmann R, Ropers H, Tommerup N, Tumer Z. Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clin Genet. 2007;72:593-8.
 
135.   Jakobsen LP, Ullmann R, Kjaer KW, Knudsen MA, Tommerup N, Eiberg H. Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family. Am J Med Genet A. 2007;143:2716-21.
 
134.   Sanggaard KM, Rendtorff ND, Kjaer KW, Eiberg H, Johnsen T, Gimsing S, Dyrmose J, Nielsen KO, Lage K, Tranebjaerg L. Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. Eur J Hum Genet. 2007;15:1121-31.
 
133.   Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007;81:1057-69.
 
132.   Engenheiro E, Saraiva J, Carreira I, Ramos L, Ropers H, Silva E, Tommerup N, Tumer Z. Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clin Genet. 2007;72:464-70.
 
131.   Hansen L, Eiberg H, Rosenberg T. Novel MAF mutation in a family with congenital cataract-microcornea syndrome. Mol Vis. 2007;13:2019-22.
 
130.PDF  Silahtaroglu AN, Nolting D, Dyrskjøt L, Berezikov E, Møller M, Tommerup N, Kauppinen S. Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc. 2007;2:2520-8.
 
129.   Martins S, Calafell F, Gaspar C, Wong VC, Silveira I, Nicholson GA, Brunt ER, Tranebjaerg L, Stevanin G, Hsieh M, Soong BW, Loureiro L, Durr A, Tsuji S, Watanabe M, Jardim LB, Giunti P, Riess O, Ranum LP, Brice A, Rouleau GA, Coutinho P, Amorim A, Sequeiros J. Asian origin for the worldwide-spread mutational event in machado-joseph disease. Arch Neurol. 2007;64:1502-8.
 
128.   Fickelscher I, Liehr T, Watts K, Bryant V, Barber JCK, Heidemann S, Siebert R, Hertz JM, Tumer Z, Thomas NS. The Variant inv(2)(p11.2q13) Is a Genuinely Recurrent Rearrangement but Displays Some Breakpoint Heterogeneity. Am J Hum Genet. 2007;81:847-56.
 
127.   Hansen L, Yao W, Eiberg H, Kjaer KW, Baggesen K, Hejtmancik JF, Rosenberg T. Genetic Heterogeneity in Microcornea-Cataract: Five Novel Mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci. 2007;48:3937-44.
 
126.   Johansen JS, Høyer PE, Larsen LA, Price PA, Møllgård K. YKL-40 Protein Expression in the Early Developing Human Musculoskeletal System. J Histochem Cytochem. 2007;55:1213-28.
 
125.   Bugge M, Collins A, Hertz JM, Eiberg H, Lundsteen C, Brandt CA, Bak M, Hansen C, Delozier CD, Lespinasse J, Tranebjaerg L, Hahnemann JM, Rasmussen K, Bruun-Petersen G, Duprez L, Tommerup N, Petersen MB. Non-disjunction of chromosome 13. Hum Mol Genet. 2007;16:2004-10.
 
124.   Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet. 2007;81:388-96.
 
123.   Christoffersen NR, Silahtaroglu A, Orom UA, Kauppinen S, Lund AH. miR-200b mediates post-transcriptional repression of ZFHX1B. RNA. 2007;13:1172-8.
 
122.PDF  Bache I, Nielsen NM, Rostgaard K, Tommerup N, Frisch M. Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements. Arthritis Rheum. 2007;56:2402-9.
 
121.   Laursen SB, Mollgard K, Olesen C, Oliveri RS, Brochner CB, Byskov AG, Andersen AN, Hoyer PE, Tommerup N, Yding Andersen C. Regional differences in expression of specific markers for human embryonic stem cells. Reprod Biomed Online. 2007;15:89-98.
 
120.   Bahmad F Jr, Merchant SN, Nadol JB Jr, Tranebjaerg L. Otopathology in Mohr-Tranebjaerg syndrome. Laryngoscope. 2007;117:1202-8.
 
119.   Hansen L, Kreiborg S, Jarlov H, Niebuhr E, Eiberg H. A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth. Eur J Oral Sci 2007;115:1–4.
 
118.   Larsen LA, Jespersgaard C, Andersen PS. Single-strand conformation polymorphism analysis using capillary array electrophoresis for large-scale mutation detection. Nat Protoc. 2007;2:1458-66.
 
117.   Kalscheuer VM, FitzPatrick D, Tommerup N, Bugge M, Niebuhr E, Neumann L, Tzschach A, Shoichet SA, Menzel C, Erdogan F, Arkesteijn G, Ropers H-H, Ullmann R. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation. Hum Genet. 2007;121:501-9.
 
116.   Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tumer Z. Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2. J Med Genet. 2007;44:381-6.
 
115.   Kier-Swiatecka E, Kock M, Marker P, Eiberg H, Kjaer KW. The ADULT-EEC spectrum: an R280C mutation with a borderline phenotype. Am J Med Genet A. 2007;143:891-4.
 
114.   Olesen C, Nyeng P, Kalisz M, Jensen TH, Moller M, Tommerup N, Byskov AG. Global gene expression analysis in fetal mouse ovaries with and without meiosis and comparison of selected genes with meiosis in the testis. Cell Tissue Res. 2007;328:207-21.
 
113.   Dahl C, Gronskov K, Larsen LA, Guldberg P, Brondum-Nielsen K. A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile x syndrome. Clin Chem. 2007;53:790-3.
 
112.   Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers H-H, Tommerup N, Tumer Z. Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet. 2007;15:711-3.
 
111.   Hansen CP, Moller R, Tumer Z, Tommerup N. Det genetiske grundlag for epilepsi. Ugeskr Laeger. 2007;169:1102.
 
110.   Bache I, Brondum-Nielsen K, Tommerup N. Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers. Genet Med. 2007;9:185-7.
 
109.   Nielsen NH, Winkel BG, Kanters JK, Schmitt N, Hofman-Bang J, Jensen HS, Bentzen BH, Sigurd B, Larsen LA, Andersen PS, Haunso S, Kjeldsen K, Grunnet M, Christiansen M, Olesen SP. Mutations in the Kv1.5 channel gene KCNA5 in cardiac arrest patients. Biochem Biophys Res Commun. 2007;354:776-82.
 
108.   Lage K, Karlberg EO, Størling ZM, Ólason PI, Pedersen AG, Rigina O, Tumer Z, Pociot F, Tommerup N, Moreau Y, Brunak S. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol. 2007;25:309-16.
 
107.   Bennetts JS, Rendtorff ND, Simpson F, Tranebjaerg L, Wicking C. The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non-progressive infantile ataxia on chromosome 20q11-q13. Dev Dyn. 2007;236:843-52.
 
106.   Hinson JT, Fantin VR, Schonberger J, Breivik N, Siem G, McDonough B, Sharma P, Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, Hoppel CL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in the BCS1L gene as a cause of the Bjornstad syndrome. N Engl J Med. 2007;356:809-19.
 
105.   Tranebjærg L. Årsaken til Bjørnstad syndrom er funnet. T Norsk Lægeforening 2007;127:127.
 
104.   Warburg M, Ullman S, Jensen H, Pedersen H, Kobayashi T, Russell B, Tranebjaerg L, Richard G, Brondum-Nielsen K. Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?. Am J Med Genet A. 2006;140:2709-13.
 
103.   Zhang L, Tumer Z, Jacobsen JR, Andersen PS, Tommerup N, Larsen LA. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations. Genet Test. 2006;10:277-80.
 
102.   Bisgaard AM, Kirchhoff M, Tumer Z, Jepsen B, Brondum-Nielsen K, Cohen M, Hamborg-Petersen B, Bryndorf T, Tommerup N, Skovby F. Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features. Am J Med Genet A. 2006;140:2180-7.
 
101.   Cingöz S, Bisgaard AM, Bache I, Bryndorf T, Kirchhoff M, Petersen, W, Ropers H-H, Maas N, Van Buggenhout G, Tommerup N, Tumer Z. 4q35 deletion and 10p15 duplication associated with immunodeficiency. Am J Med Genet A. 2006;140:2231-5.
 
100.   Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur J Hum Genet. 2006;14:1097-105.
 
99.   Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K. Screening for Fragilt X syndrom – Internationale erfaringer. Ugeskr Laeger. 2006:168:3704-9.
 
98.   Jespersgaard C, Larsen LA, Baba S, Kukita Y, Tahira T, Christiansen M, Vuust J, Hayashi K, Andersen PS. Optimization of capillary array electrophoresis single-strand conformation polymorphism analysis for routine molecular diagnostics. Electrophoresis. 2006;27:3816-22.
 
97.   Bak M, Conley L, Hedegaard J, Larsen LA, Sørensen P, Bendixen C, Tommerup N. Evaluation of two methods for generating cRNA for microarray experiments from nanogram amounts of total RNA. Anal Biochem. 2006;358:111-9.
 
96.   Hansen L, Yao W, Eiberg H, Funding M, Riise R, Kjaer KW, Hejtmancik JF, Rosenberg T. The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46. Mol Vis. 2006;12:1033-9.
 
95.   Rinne T, Spadoni E, Kjaer KW, Danesino C, Larizza D, Kock M, Huoponen K, Savontaus ML, Aaltonen M, Duijf P, Brunner HG, Penttinen M, van Bokhoven H. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet. 2006;14:904-10.
 
94.   Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA. Effects of human deafness gamma -actin mutations (DFNA20/26) on actin function. J Biol Chem. 2006;281:20129-39.
 
93.   Valoczi A, Varallyay E, Kauppinen S, Burgyan J, Havelda Z. Spatio-temporal accumulation of microRNAs is highly coordinated in developing plant tissues. Plant J. 2006;47:140-51.
 
92.   Vestergaard J, Pedersen MW, Pedersen N, Ensinger C, Tumer Z, Tommerup N, Poulsen HS, Larsen LA. Hedgehog signaling in small-cell lung cancer: Frequent in vivo but a rare event in vitro. Lung Cancer. 2006;52:281-90.
 
91.   Orom UA, Kauppinen S, Lund AH. LNA-modified oligonucleotides mediate specific inhibition of microRNA function. Gene. 2006;372:137-41.
 
90.   Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS. Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans. Am J Hum Genet. 2006;78:878-83.
 
89.   Eiberg H, Hansen L, Kjer B, Hansen T, Pedersen O, Bille M, Rosenberg T, Tranebjaerg L. Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene. J Med Genet. 2006;43:435-40.
 
88.   Soini S, Ibarreta D, Anastasiadou V, Ayme S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, Sequeiros J, Tranebjaerg L, Kaariainen H. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Eur J Hum Genet. 2006;14:588-645.
 
87.   Wu Q, Tommerup N, Ming Wang S, Hansen L. A novel primate specific gene, CEI, is located in the homeobox gene IRXA2 promoter in Homo sapiens. Gene. 2006;371:167-73.
 
86.   Bache I, Hjorth M, Bugge M, Holstebroe S, Hilden J, Schmidt L, Brondum-Nielsen K, Bruun-Petersen G, Jensen PK, Lundsteen C, Niebuhr E, Rasmussen K, Tommerup N. Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases. Eur J Hum Genet. 2006;14:410-7.
 
85.   Jorgensen JR, Juliusson B, Henriksen KF, Hansen C, Knudsen S, Petersen TN, Blom N, Seiger A, Wahlberg LU. Identification of novel genes regulated in the developing human ventral mesencephalon. Exp Neurol. 2006;198:427-37.
 
84.   Jakobsen LP, Knudsen MA, Lespinasse J, Garcia Ayuso C, Ramos C, Fryns JP, Bugge M, Tommerup N. The Genetic Basis of the Pierre Robin Sequence. Cleft Palate Craniofac J. 2006;43:155-9.
 
83.   Baekvad-Hansen M, Tumer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet A. 2006;140A:427-33.
 
82.   Bache I, Hasle H, Tommerup N, Olsen JH. Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement. Genes Chromosomes Cancer. 2006;45:231-46.
 
81.   Kjaer KW, Eiberg H, Hansen L, van der Hagen CB, Rosendahl K, Tommerup N, Mundlos S. A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. J Med Genet. 2006;43:225-31.
 
80.   Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hum Mutat. 2006;27:290.
 
79.   Dlugaszewska B, Silahtaroglu A, Menzel C, Kubart S, Cohen M, Mundlos S, Tumer Z, Kjaer KW, Friedrich U, Ropers HH, Tommerup N, Neitzel H, Kalscheuer VM. Breakpoints around the HOXD cluster result in various limb malformations. J Med Genet. 2006;43:111-8.
 
78.   Tzschach A, Hoffmann K, Hoeltzenbein M, Bache I, Tommerup N, Bommer C, Korner H, Kalscheuer V, Ropers HH. Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris. Clin Genet. 2006;69:189-93.
 
77.   Nelson PT, Baldwin DA, Kloosterman WP, Kauppinen S, Plasterk RH, Mourelatos Z. RAKE and LNA-ISH reveal microRNA expression and localization in archival human brain. RNA. 2006;12:187-91.
 
76.   Hagens O, Dubos A, Abidi F, Barbi G, Van Zutven L, Hoeltzenbein M, Tommerup N, Moraine C, Fryns JP, Chelly J, van Bokhoven H, Gecz J, Dollfus H, Ropers HH, Schwartz CE, de Cassia Stocco Dos Santos R, Kalscheuer V, Hanauer A. Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet. 2006;118:578-90.
 
75.   Kloosterman WP, Wienholds E, de Bruijn E, Kauppinen S, Plasterk RH. In situ detection of miRNAs in animal embryos using LNA-modified oligonucleotide probes. Nat Methods. 2006;3:27-9.
 
74.   Anttonen AK, Mahjneh I, Hamalainen RH, Lagier-Tourenne C, Kopra O, Waris L, Anttonen M, Joensuu T, Kalimo H, Paetau A, Tranebjaerg L, Chaigne D, Koenig M, Eeg-Olofsson O, Udd B, Somer M, Somer H, Lehesjoki AE. The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005;37:1309-11.
 
73.   Hansen L, Eiberg H, Barrett T, Bek T, Kjaersgaard P, Tranebjaerg L, Rosenberg T. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified. Eur J Hum Genet. 2005;13:1275-84.
 
72.   Kjaer KW, Hansen L, Eiberg H, Utkus A, Skovgaard LT, Leicht P, Opitz JM, Tommerup N. A 72-year-old Danish puzzle resolved-comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions. Am J Med Genet A. 2005;138:328-39.
 
71.   Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, Ropers HH, Kalscheuer VM. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet. 2005;117:536-44.
 
70.   Kock M, Nolting D, Kjaer KW, Hansen BF, Kjaer I. Immunohistochemical expression of p63 in human prenatal tooth primordia. Acta Odontol Scand. 2005;63:253-7.
 
69.   Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M. Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations. Am J Med Genet A. 2005;138:150-4.
 
68.   Seemann P, Schwappacher R, Kjaer KW, Krakow D, Lehmann K, Dawson K, Stricker S, Pohl J, Ploger F, Staub E, Nickel J, Sebald W, Knaus P, Mundlos S. Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest. 2005;115:2373-81.
 
67.   Kjaer KW, Hansen L, Eiberg H, Christensen KS, Opitz JM, Tommerup N. Male-to-male transmission in Laurin-Sandrow syndrome and exclusion of RARB and RARG. Am J Med Genet A. 2005;137:148-52.
 
66.   Borg I, Freude K, Kubart S, Hoffmann K, Menzel C, Laccone F, Firth H, Ferguson-Smith MA, Tommerup N, Ropers HH, Sargan D, Kalscheuer VM. Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome. Eur J Hum Genet. 2005;13:921-7.
 
65.   Moller LB, Bukrinsky JT, Molgaard A, Paulsen M, Lund C, Tumer Z, Larsen S, Horn N. Identification and analysis of 21 novel disease-causing amino acid substitutions in the conserved part of ATP7A. Hum Mutat. 2005;26:84-93.
 
64.   Wienholds E, Kloosterman WP, Miska E, Alvarez-Saavedra E, Berezikov E, de Bruijn E, Horvitz RH, Kauppinen S, Plasterk RH. MicroRNA Expression in Zebrafish Embryonic Development. Science. 2005;309:310-1.
 
63.   Tumer Z, Henriksen AM, Bache I, Brixen K, Kalschauer V, Illum N, Rasmussen K, Larsen LA, Tommerup N. Eponymous Jacobsen syndrome: Mapping the breakpoints of the original family suggests an association between the distal 1.1 Mb of chromosome 21 and osteoporosis in Down syndrome. Am J Med Genet A. 2005;135:339-41.
 
62.   Mendioroz J, Fernandez-Toral J, Suarez E, Lopez-Grondona F, Kjaer KW, Bermejo E, Martinez-Frias ML. Sensorineural deafness, abnormal genitalia, synostosis of metacarpals and metatarsals 4 and 5, and mental retardation: description of a second patient and exclusion of HOXD13. Am J Med Genet A. 2005;135:211-3 (Erratum in: Am J Med Genet A. 2006;140A:663).
 
61.   Sogaard M, Tumer Z, Hjalgrim H, Hahnemann J, Friis B, Ledaal P, Faurholt Pedersen V, Baekgaard P, Tommerup N, Cingoz S, Duno M, Brondum-Nielsen K. Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of phenotypes of deletions of 1pter, 2qter, 4pter, 5qter and 9qter. BMC Med Genet. 2005;6:21.
 
60.   Tian H, Emrich CA, Scherer J, Mathies RA, Andersen PS, Larsen LA, Christiansen M. High Throughput Single-Strand Conformation Polymorphism Analysis on a Microfabricated Capillary Array Electrophoresis Device. Electrophoresis. 2005;26:1834-42.
 
59.   Sadeghi M, Cohn ES, Kimberling WJ, Tranebjaerg L, Moller C. Audiological and vestibular features in affected subjects with USH3: a genotype/phenotype correlation. Int J Audiol. 2005;44:307-16.
 
58.   Lindquist SG, Kirchhoff M, Lundsteen C, Pedersen W, Erichsen G, Kristensen K, Lillquist K, Smedegaard HH, Skov L, Tommerup N, Brondum-Nielsen K. Further delineation of the 22q13 deletion syndrome. Clin Dysmorphol. 2005;14:55-60.
 
57.   Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER. Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet. 2005;37:221-3.
 
56.   Christiansen M, Tønder N, Larsen LA, Andersen PS, Simonsen H, Øyen N, Kanters JK, Jacobse, JR, Fosdal I, Wettrell G and Kjeldsen K. Mutations in the HERG ion channel: A novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol 2005;95:433-4.
 
55.   Boonen SE, Stahl D, Rosenberg T, Kreiborg S, Kalscheuer V, Larsen LA, Tommerup N, Brøndum-Nielsen K, Tumer Z. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A. 2005;132:324-8.
 
54.   Bugge M, Delozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Trisomy 13 due to rea(13q;13q) is caused by i(13) and not rob(13;13)(q10;q10) in the majority of cases. Am J Med Genet A. 2005;132A:310-3.
 
53.   Christiansen M, Kjeldsen K, Wettrell G, Larsen LA, Lundkvist L, Andersen PS, Tran CT, Kanters JK, Vuust J. Potassium Must Be Considered in Congenital long QT syndrome. Heart Drug. 2005;5:54-8.
 
52.   Frank-Hansen R, Larsen LA, Andersen PS, Jespersgård C, Christiansen M. Mutations in the genes KCND2 and KCND3 encoding the ion-channels Kv 4.2 and Kv 4.3, conducting the cardiac fast transient outward current (ITO,f), are not a frequent cause of Long QT syndrome. Clin Chim Acta. 2005;351:95-100.
 
51.   Wu Q, Niebuhr E, Yang H, Hansen L. Determination of the critical region for cat-like cry of Cri-du-chat syndrome and analysis of candidate genes by quantitative PCR. Eur J Hum Genet. 2005;13:475-85.
 
50.   Henriksen AM, Tumer Z, Tommerup N, Tranebjærg L, Larsen LA. Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. Genet Test. 2004;8:404-6.
 
49.   Hougs L, Havndrup O, Bundgaard H, Køber L, Vuust J, Larsen LA, Christiansen M, Andersen PS. One-third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in rod region. Eur J Hum Genet. 2005;13:161-5.
 
48.   Eiberg H, Hansen L, Hansen C, Mohr J, Teglbjaerg PS, Kjaer KW. Mapping of hereditary trichilemmal cyst (TRICY1) to chromosome 3p24-p21.2 and exclusion of beta-CATENIN and MLH1. Am J Med Genet A. 2005;133:44-7.
 
47.   Kjaer KW, Hansen L, Schwabe GC, Marques-de-Faria AP, Eiberg H, Mundlos S, Tommerup N, Rosenberg T. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). J Med Genet. 2005;42:292-8.
 
46.   Kanters JK, Fanoe S, Larsen LA, Bloch-Thomsen PE, Toft E, Christansen M. T-wave pattern morphology analysis distinguishes between KvLQT1 and HERG mutations in Long QT syndrome. Heart Rhythm. 2004;3:285-292.
 
45.   Poulsen L, Moller LB, Plunkett K, Belmont J, Tumer Z, Horn N. Menkes disease: first documented report of germ-line mosaicism. Genet Test. 2004;8:286-91.
 
44.   Tumer Z, Harboe TL, Blennow E, Kalscheuer VM, Tommerup N, Brondum-Nielsen K. Molecular cytogenetic characterization of ring chromosome 15 in three unrelated patients. Am J Med Genet A. 2004;130:340-4.
 
43.   Bache I, Assche EV, Cingoz S, Bugge M, Tumer Z, Hjorth M, Lundsteen C, Lespinasse J, Winther K, Niebuhr A, Kalscheuer V, Liebaers I, Bonduelle M, Tournaye H, Ayuso C, Barbi G, Blennow E, Bourrouillou G, Brondum-Nielsen K, Bruun-Petersen G, Croquette MF, Dahoun S, Dallapiccola B, Davison V, Delobel B, Duba HC, Duprez L, Ferguson-Smith M, FitzPatrick DR, Grace E, Hansmann I, Hulten M, Jensen PK, Jonveaux P, Kristoffersson U, Lopez-Pajares I, McGowan-Jordan J, Murken J, Orera M, Parkin T, Passarge E, Ramos C, Rasmussen K, Schempp W, Schubert R, Schwinger E, Shabtai F, Smith K, Stallings R, Stefanova M, Tranebjerg L, Turleau C, Van Der Hagen CB, Vekemans M, Vokac NK, Wagner K, Wahlstroem J, Zelante L, Tommerup N. An excess of chromosome 1 breakpoints in male infertility. Eur J Hum Genet. 2004;12:993-1000.
 
42.   Silahtaroglu A, Pfundheller H, Koshkin A, Tommerup N, Kauppinen S. LNA-modified oligonucleotides are highly efficient as FISH probes. Cytogenet Genome Res. 2004;107:32-7.
 
41.   Lespinasse J, Rethore MO, North MO, Bovier-Lapierre M, Lundsteen C, Fert-Ferrer S, Bugge M, Kirchoff M. Balanced complex chromosomal rearrangements (BCCR) with at least three chromosomes and three or more breakpoints: report of three new cases. Ann Genet. 2004;47:315-24.
 
40.   Silahtaroglu AN, Jensen LR, Harboe TL, Horn P, Bendixen C, Tommerup N, Tumer Z. Sequencing and mapping of the porcine CCS gene. Anim Genet. 2004;35:353-4.
 
39.   Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Børglum AD, Vuust J, Pedersen AK, Kjeldsen K, Christiansen M. Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency. Eur J Hum Genet. 2004;12:673-7.
 
38.   Grønskov K, Larsen LA, Rendtorff ND, Parving A, Nørgaard-Pedersen B, Brøndum-Nielsen K. GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment. Genet Test. 2004;8:181-4.
 
37.   Bak M, Hansen C, Henriksen KF, Hansen L, Pakkenberg H, Eiberg H, Tommerup N. Mutation analysis of the Sonic hedgehog promoter and putative enhancer elements in Parkinsons disease patients. Brain Res Mol Brain Res. 2004;126:207-11.
 
36.   Lespinasse J, Bugge M, Rethore MO, North MO, Lundsteen C, Kirchhoff M. De novo complex chromosomal rearrangements (CCR) involving chromosome 1, 5, and 6 resulting in microdeletion for 6q14 in a female carrier with psychotic disorder. Am J Med Genet A. 2004;128:199-203.
 
35.   Hofman-Bang J, Jespersen T, Grunnet M, Larsen LA, Andersen PS, Kanters JK, Kjeldsen K and Christiansen M. Does KCNE5 play a role in long QT syndrome?. Clin Chim Acta. 2004;345:49-53.
 
34.   Bugge M, Brandt CA, Petersen MB. DNA studies of mono- and pseudodicentric isochromosomes 18q. Am J Med Genet A. 2004;127:230-3.
 
33.   Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N. Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair. Am J Med Genet A. 2004;127:152-7.
 
32.   Hertz JM, Sivertsen B, Silahtaroglu A, Bugge M, Kalscheuer V, Weber A, Wirth J, Ropers HH, Tommerup N, Tumer Z. Early onset, non-progressive, mild cerebellar ataxia co-segregating with a familial balanced translocation t(8;20)(p22;q13). J Med Genet. 2004;41:e25 (doi: 10.1136/jmg.2003.011510).
 
31.   Midro AT, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski JR, Zemanova Z, Stasiewicz-Jarocka B, Hubert E, Tarasow E, Famulski W, Zadrozna-Tolwinska B, Wasilewska E, Kirchhoff M, Kalscheuer V, Michalova K, Tommerup N. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004;124:179-91.
 
30.   Tumer Z, Birk Moller L, Horn N. Screening of 383 unrelated patients affected with Menkes disease and finding of 57 gross deletions in ATP7A. Hum Mutat. 2003;22:457-64.
 
29.   Kjaer KW, Keeling JW, Opitz JM, Gilbert-Barness E, Hartling U, Fischer-Hansen B, Kjær I. Sirenomelia Sequence According to the Distance Between the First Sacral Vertebra and the Ilia. Am J Med Genet A. 2003;120:503-8.
 
28.   Silahtaroglu AN, Tommerup N, Vissing H. FISHing with locked nucleic acids (LNA): evaluation of different LNA/DNA mixmers. Mol Cell Probes. 2003;17:165-9.
 
27.   Olesen C, Silber J, Eiberg H, Ernst E, Petersen K, Lindenberg S, Tommerup N. Mutational analysis of the human FATE gene in 144 infertile men. Hum Genet. 2003;113:195-201.
 
26.   Bak M, Hansen C, Tommerup N, Larsen LA. The Hedgehog signaling pathway-implications for drug targets in cancer and neurodegenerative disorders. Pharmacogenomics. 2003;4:411-29 (Review).
 
25.   Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet. 2003;72:1401-11.
 
24.   Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA. Capillary electrophoresis-based single strand DNA conformation analysis in high-throughput mutation screening. Hum Mutat. 2003;21:455-65.
 
23.   Larsen LA, Christiansen M, Vuust J, Andersen PS. Single-strand conformation polymorphism analysis using capillary electrophoresis. Curr Protoc Hum Genet. 2003;Chapter 7:Unit 7.12.
 
22.   Harboe TL, Jensen LR, Hansen C, Horn P, Bendixen C, Tommerup N, Tumer Z. Cloning, characterization and chromosomal localization of the Sus scrofa SLC31A1 gene. Anim Genet. 2003;34:59-61.
 
21.   Andersen PS, Jespersgaard C, Vuust J, Christiansen M, Larsen LA. High-throughput single strand conformation polymorphism mutation detection by automated capillary array electrophoresis: validation of the method. Hum Mutat. 2003;21:116-22.
 
20.   Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, Christiansen M. Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations. Cardiovasc Res. 2003;57:347-57.
 
19.   Gurrieri F, Kjaer KW, Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002;115:231-44 (Review).
 
18.   Poulsen L, Horn N, Heilstrup H, Lund C, Tumer Z, Moller L. X-linked recessive Menkes disease: identification of partial gene deletions in affected males. Clin Genet. 2002;62:449-57.
 
17.   Harboe TL, Tommerup N, Tumer Z. Assignment of Zfp100 to murine chromosome 4 band D3/E1 with radiation hybrid mapping. Cytogenet Genome Res. 2002;97:276A.
 
16.   Poulsen TS, Silahtaroglu AN, Gisselo CG, Tommerup N, Johnsen HE. Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end sequenced probes. Leukemia. 2002;16:2148-55.
 
15.   Poulsen TS, Silahtaroglu AN. Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B cell malignancies using end-sequenced probes. Leukemia. 2002;16:2156-8.
 
14.   Aarenstrup L, Falch AM, Jakobsen KK, Neve S, Henriksen L LO, Tommerup N, Leffers H, Kristiansen K. Expression and post-translational modification of human 4-hydroxy-phenylpyruvate dioxygenase. Cell Biol Int. 2002;26:615-25.
 
13.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD 13 polyalanine tract expansion in classical synpolydactyly Type Vordingborg. Am J Med Genet. 2002;110:116-21.
 
12.   Busch R, Kjaer KW. Ectrodactyly and Germany`s eugenics law of 14 July 1933. Am J Med Genet. 2002;110:184-90.
 
11.   Borg I, Squire M, Menzel C, Stout K, Morgan D, Willatt L, OBrien PC, Ferguson-Smith MA, Ropers HH, Tommerup N, Kalscheuer VM, Sargan DR. A cryptic deletion of 2q35 including part of the PAX3 gene detected by breakpoint mapping in a child with autism and a de novo 2;8 translocation. J Med Genet. 2002;39:391-9.
 
10.   Hacihanefioglu S, Guven GS, Deviren A, Silahtaroglu AN, Yosunvkaya Fenerci E, Ozkilic A, Yuksel A. Trisomy 9p syndrome in two brothers: with new clinical findings and review of the literature. Genet Couns. 2002;13:41-8.
 
9.   Silahtaroglu AN, Brondum-Nielsen K, Gredal O, Werdelin L, Panas M, Petersen MB, Tommerup N, Tumer Z. Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS). BMC Genetics. 2002;3:5 (doi:10.1186/1471-2156-3-5).
 
8.   Tumer Z, Croucher PJ, Jensen LR, Hampe J, Hansen C, Kalscheuer V, Ropers HH, Tommerup N, Schreiber S. Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2). Gene. 2002;288:179-85.
 
7.   Bugge M, Holm NV. Abdominal wall defects in Denmark, 1970-89. Paediatr Perinat Epidemiol. 2002;6:73-81.
 
6.   Ehrlich M, Buchanan KL, Tsien F, Jiang G, Sun B, Uicker W, Weemaes CM, Smeets D, Sperling K, Belohradsky BH, Tommerup N, Misek DE, Rouillard JM, Kuick R, Hanash SM. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum Mol Genet. 2001;10:2917-31.
 
5.   Andersen PS, Havndrup O, Bundgaard H, Moolman-Smook JC, Larsen LA, Mogensen J, Brink PA, Børglum AD, Corfield VA, Kjeldsen K, Vuust J, Christiansen M. Myosin light chain mutations in familial hypertrophic cardiomyopathy: their phenotypic presentation and frequency in Danish and South African populations. J Med Genet. 2001;38:e43 (doi: 10.1136/jmg.38.12.e43).
 
4.   Olesen C, Larsen NJ, Byskov AG, Harboe TL, Tommerup N. Human FATE is a novel X-linked gene expressed in fetal and adult testis. Mol Cell Endocrinol. 2001;184:25-32.
 
3.   Larsen LA, Christiansen M, Vuust J, Andersen PS. Recent developments in high-throughput mutation screening. Pharmacogenomics. 2001;2:387-99.
 
2.   Poulsen TS, Silahtaroglu AN, Gisselo CG, Gaarsdal E, Rasmussen T, Tommerup N, Johnsen HE. Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B-cell malignancies using end-sequenced probes. Genes Chromosomes Cancer. 2001;32:265-74.
 
1.   Harboe TL, Tumer Z, Hansen C, Jensen NA, Tommerup N. Assignment of the human zinc finger gene, ZNF288, to chromosome 3 band q13.2 by radiation hybrid mapping and fluorescence in situ hybridisation. Cytogenet Cell Genet. 2000;89:156-7.
 

Book chapters

18.   Silahtaroglu A and Stenvang J. MicroRNAs, Epigenetics and Disease. In: Lipps H, Postberg J, Jackson D (eds.). Essays in Biochemistry: Epigenetics, Disease and Behaviour. London 2011, Portland Press.
 
17.   Silahtaroglu A. LNA-FISH for detection of microRNAs in frozen sections. In: Bridger J and Volpi E (eds.). Fluorescence in Situ Hybridization (FISH): Protocols and Applications. Methods in Molecular Biology. New Jersey 2010, Humana Press.
 
16.   Ajbro KD, Larsen LA. The genetics of human congenital heart disease. In: Mikhailov A, Torrado M (eds.). Shaping the Heart in Development and Disease. Trivandrum 2010, Research Signpost, pp 193-216 2010.
 
15.   Tranebjærg L. Deafness-Dystonia-Optic Neuronopathy Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds.). GeneReviews [Internet]. Seattle (WA) 2009, University of Washington, Seattle.
 
14.   Tranebjaerg L, Barrett T, Rendtorff ND. WFS1-Related Disorders. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds.). GeneReviews [Internet]. Seattle (WA) 2009, University of Washington, Seattle.
 
13.   Daley SM, Tranebjaerg L, Samson RA, Green GE. Jervell and Lange-Nielsen Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K (eds.). GeneReviews [Internet]. Seattle (WA) 2009, University of Washington, Seattle.
 
12.   Clement CA, Larsen LA, Christensen ST. Using nucleofection of siRNA constructs for knockdown of primary cilia in P19.CL6 cancer stem cell differentiation into cardiomyocytes. In: Sloboda RD (eds.). Methods in Cell Biology. Amsterdam 2009, Elsevier. pp. 181-197.
 
11.   Tranebjærg L. Wolframin 1-related Disease and Hearing. In: Kõks S and Vasar E (eds.). Wfs1 protein (wolframin): emerging link between the emotional brain and endocrine pancreas. Kerala, India 2008, Research Signpost.
 
10.   Tranebjærg L. Deafness-Dystonia-Optic Neuronopathy Syndrome. In: (eds.). GeneReviews at GeneTests: Medical Genetics Information Resource [online database ]. Seattle, US 2008, University of Washington.
 
9.   Tranebjærg L. Audiologisk genetik. In: Arlinger S (ed): (eds.). Nordisk lärobok i audiologi. Kapitel 4.3. (Text book in audiology in Scandinavian languages). ISBN 978-91-631-9440-5. Bromma, Sweden 2007, Tegner AB.
 
8.   Tranebjærg L. Audiologisk genetikk. In: Laukli E (ed) (eds.). Nordisk Lærebok i Audiologi. Kapitel 4.3 (p. 118-123) (Textbokk in Audiology in Scandinavian languages). Bergen, Norge 2007, Fagboksforlaget Vigmostad & Bjørke A/S.
 
7.   Vestergaard J, Bak M, Larsen LA. The Hedgehog Signaling Pathway in Cancer. In: Macieira-Coelho, Alvaro (eds.). Developmental Biology of Neoplastic Growth, Progress in Molecular and Subcellular Biology, Vol. 40. Heidelberg 2005, Springer.
 
6.   . . In: Schaffer LG, Tommerup N (eds.). ISCN (2005): An International System for Human Cytogenetic Nomenclature. Basel 2005, S. Karger.
 
5.   Andersen PS, Larsen LA. High Throughput Mutation Screening. In: Rapley R, Harbron S (eds.). Molecular Analysis and Genome Discovery. New York 2004, John Wiley & Sons, inc.
 
4.   Tumer Z, Horn N. Menkes disease. In: Roach ES, Miller VS (eds.). Neurocutaneous Disorders. Cambridge 2003, Cambridge University Press, pages 222-233.
 
3.   Larsen LA, Christiansen M, Vuust J, Andersen PS. Single strand conformation polymorphism analysis using capillary electrophoresis. In: Dracopoli NC, Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Smith DR (eds.). Current Protocols in Human Genetics. New York 2002, John Wiley & Sons, inc. pp 7.12.1-7.12.8.
 
2.   Horn N, Tumer Z. Menkes Disease and Occipital Horn Syndrome. In: Roach and Steinmann (eds.). Connective Tissue and Its Heritable Disorders. New York 2002, Wiley-Liss Inc. pages 651-685.
 
1.   Tumer Z, Horn N, Jensen LR. Expression profiling in Menkes disease. In: Massaro EJ (eds.). Handbook of Copper Pharmacology and Toxicology. Totowa, New Jersey 2002, Humana Press, pages 343-356.
 

Posters, oral presentations and others

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The 7th International Medical Postgraduate Conference, Charles University
Charles University, Hradec Králové, Czech Republic, November 18, 2010
Oral presentations
157.   S Minocherhomji. Mapping networks of a novel layer of gene regulators using a translocation breakpoint as a model. The 7th International Medical Postgraduate Conference Proceedings 109-111, 2010.
 
Forskningscenter Foulum, Det Jordbrugsvidenskabelige Fakultet, Aarhus Universitet
Institut for Genetik og Bioteknologi, Det Jordbrugsvidenskabelige Fakultet, Aarhus Universitet, May 21, 2010
Oral presentations
156.   Niels Tommerup. Next (now) sequencing at Wilhelm Johannsen Centre for Functional Genome Research.
 
41st American Cytogenetics Conference
Crowne Plaza, Niagara Falls, Ontario, CANADA, May 13, 2010
Oral presentations
155.   Niels Tommerup. Next (now) generation sequencing in Cytogenetics.
 
Chromatin Plasticity Network & Epigenome Network of Excellence Joint Conference
Eden Roc Hotel, San Felieu de Guixols, Costa Brava, Spain, May 10, 2010
Posters
154.   S. Minocherhomji. Induced de novo imprint due to a chromosomal translocation. Advances in Epigenetics, Epigenome Network of Excellence & Chromatin Plasticity Meeting Sant Feliu de Guixols, Spain.
 
Oral presentations
153.   Asli Silahtaroglu. Balanced translocation breakpoints as tools to study genome organization.
 
Department for Molecular Medicine (MOMA), Aarhus University Hospital / Skejby
Hotel Æbertoft, March 19, 2010
Oral presentations
152.   Niels Tommerup. Next generation sequencing.
 
Graduate School of Neuroscience
, November 26, 2009
Oral presentations
151.   Mads Bak. High throughput sequencing.
 
Norsk forening for medisinsk genetikk (NFMG)/Norsk selskap for human genetikk (NSHG)
Oslo, Norway, November 25, 2009
Oral presentations
150.   Niels Tommerup. The multiple uses of Illumina next generation sequencing in a research laboratory.
 
Phd-course in Cell Biology of Cancer
BRIC, Copenhagen Biocentre, November 18, 2009
Oral presentations
149.   Niels Tommerup. Deep sequencing.
 
UNIK ‘Food Fitness & Pharma’ meeting
Panum Instituttet – Hannover Auditoriet, November 13, 2009
Oral presentations
148.   Mads Bak. UNIK Solexa library generation and analysis platform.
 
Danish PhD School of Molecular Metabolism
Steno Diabetes Center, November 03, 2009
Oral presentations
147.   Mads Bak. Sequencing the genome(s), methods, shortcomings and future use of data.
 
ICMM, 5th Cell Biology Cluster and Postgraduate School
LO skolen, Helsingør, November 02, 2009
Oral presentations
146.   Lars Hansen. Genetics in Consanguine Families – examples from Pakistan.
 
145.   Klaus Wilbrandt Kjær. Induced pluripotent stem cells and disease modelling.
 
144.   Lars Allan Larsen. Functional genomics in the elucidation of congenital heart disease.
 
Kennedy Seminar. Niels Tommerup: The multiple uses of Illumina sequencing
KennedyCenter, Glostrup, October 30, 2009
Oral presentations
143.   Niels Tommerup. The multiple uses of the Illumina Genome Analyzer in a Genetic Research Laboratory.
 
Sjette Dianalund Epilepsisymposium
Epilepsihospitalet Dianalund, September 18, 2009
Oral presentations
142.   Niels Tommerup. Genetiske metoder af relevans for epileptologien.
 
Kennedy Seminar; MicroRNAs in Health and Disease
Kennedy centre, September 03, 2009
Posters
141.   Asli Silahtaroglu. .
 
Illumina Seminar Series. Next generation tools for genetic analyses
Radisson SAS Plaza Hotel, Oslo/Hilton Slussen, Stockholm, June 15, 2009
Oral presentations
140.   Niels Tommerup (Oslo 15. Juni 2009). The Multiple Uses of the Illumina Genome Analyzer in a Genetic Research Laboratory.
 
139.   Niels Tommerup (Stockholm 16. Juni 2009). The Multiple Uses of the Illumina Genome Analyzer in a Genetic Research Laboratory.
 
European Human Genetics Conference 2009 (ESHG 2009)
Wienna, Austria, May 23, 2009
Posters
138.   Stefanova M, Stoeva R, Bisgaard A, Dimitrov B, Gillesen-Kaesbach, FRyns J, Rose H, Grozdanova L, Ivanov I, Keymolen K, Fagerberg C, Tranebjaerg L, Kirchhoff M. Phenotype and 244k array-CGH characterization of chromosome 13q deletions: An update of the phenotypic map.
 
137.   Hansen L, Riis AK, Hove H, Lauridsen E, Eiberg H, Kreiborg S. Analysis of RUNX2 in a Danish cohort of cleidocranial dysplasia patients revealed two large chromosomal deletions and 14 pathogenic point mutations.
 
Uppsala University Seminar Series
Uppsala University, Sweden, May 14, 2009
Oral presentations
136.   Niels Tommerup. The complexity of the human genome - implications for genetic research and diagnostics.
 
European School of Medical Genetics. 22nd course in Medical Genetics
University Residential Centre of Bertinoro, Bertinoro di Romagna, Italy, April 26, 2009
Oral presentations
135.   Niels Tommerup. Mental retardation and comorbidities.
 
134.   Niels Tommerup. Mendelian Cytogenetics.
 
Kennedy Seminar. Lars Allan Larsen: Mutation - DNA copy number variation
KennedyCenter, April 24, 2009
Oral presentations
133.   Lars Allan Larsen. Mutation - DNA copy number variation.
 
MC-GARD.EU Course: Higher Order Genome Architecture
Edinburgh, April 01, 2009
Posters
132.   L.Nazaryan, M. Bak, I.Bache , J.Koch*, N. Nytofte , A. Silahtaroglu, Z. Tümer, N.Tommerup. Epigenetic analyses of a familial t(6;14) associated with Autoimmune Polyendocrine Syndrome.
 
Efteruddannelseskursus for praktiserende læger
Zell-am-See, Østrig, March 07, 2009
Oral presentations
131.   Niels Tommerup. Genetik i almen praksis.
 
130.   Niels Tommerup. Perspektiverne ved den moderne genetiske forskning.
 
Genetics and Epilepsy Meeting
Kiel, Germany, February 26, 2009
Oral presentations
129.   Laura Klitten. Mapping of chromosomal breakpoints associated with mental retardation and myoclonic-astatic epilepsy: isolation of candidate disease genes (the SYNGAP1 story).
 
EU-FP7 project CHERISH kick-off meeting
Bologna, Italy, February 09, 2009
Oral presentations
128.   Niels Tommerup. Genetics of mental retardation.
 
UNIK ‘Food Fitness & Pharma’ collaborative meeting
Charlottehaven, Østerbro, February 06, 2009
Oral presentations
127.   Niels Tommerup. Illumina sequencing in the context of the UNIK programme Food, Pharma and Fittness.
 
The 9th Danish Dysmorphology Meeting
GlaxoSmithKline, Brøndby, Denmark, January 22, 2009
Oral presentations
126.   Niels Tommerup. Microcephaly - a model for rare autosomal recessive disorders.
 
58th Annual Meeting of The American Society of Human Genetics
Philadelphia, Pennsylvania, November 11, 2008
Posters
125.   Larsen LA, Lage K, Møllgård K, Workman CT, Bendsen E, Tommerup N, Brunak S. Systematic Identification of Functional Networks in Human Heart Development.
 
Seminar, Gaungxi Cancer Institute, Nanning, China
Gaungxi Cancer Institute, Nanning, China, October 14, 2008
Oral presentations
124.   Larsen LA. Hedgehog Signaling in Development and Cancer.
 
8th European Congress on Epileptology
Berlin, Germany, September 21, 2008
Oral presentations
123.   Sanne Simone Kaalund. Differential expression of microRNAs in hippocampus from patients with temporal lobe epilepsy in association with hippocampus sclerosis may affect the glutamate signaling.
 
DSMG meeting: systems biology in relation to genetics
Odense University Hospital, September 05, 2008
Oral presentations
122.   Larsen LA. Systematic identification of functional networks in human heart development.
 
Hjerteforeningens Børneklub familiekursus
Scandic Bygholm Parkhotel, Horsens, August 17, 2008
Oral presentations
121.   Larsen LA. På sporet af? Genetiske årsager til medfødt hjertemisdannelse.
 
49th Annual Short Course on Medical and Experimental Mammalian Genetics
The Jackson Laboratory, Bar Harbor, Maine, USA, July 20, 2008
Posters
120.   Halgren C, Nielsen NM, Bryndorf T, Brøndum-Nielsen K, Crüger DC, Frisch M, Hansen J, Jensen PKA, Kjærgaard S, Lundsteen C, Rasmussen K, Tommerup N, Bache I. Morbidity and Mortality Among Carriers of de novo Balanced Reciprocal Translocations and Inversions - A Status after 34 Years of Prenatal Examination.
 
119.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
 
The Movement Disorder Society: 12th Int. Congress of Parkinsons Disease and Movement Disorders
Chicago, June 22, 2008
Posters
118.   Parratt KL, Ng K, Rowe DB, Morris JGL, Hayes MW, Sue CM, Tranebjaerg L, Rendtorff ND, Fung VSC. The spectrum of dystonia in Mohr-Tranebjaerg syndrome in three Australian kindreds.
 
EUROMIT 2008
Stockholm, June 11, 2008
Posters
117.   Rendtorff ND, LOdahl M, Hansen L, Chapka E, Bitner-Glindzicz M, Welch KO, Möller C, Lindholm S, Eriksson K, Ensgård S, Tranebjærg L. WFS1 mutations and phenotypic heterogeneity in 12 families with WFS1 related disease.
 
The European Human Genetics Conference 2008
Barcelona, Spain, May 31, 2008
Posters
116.   Nazaryan L, Midyan S, Møller RS, Ullmann R, Tommerup N. Molecular cytogenetic study of the partial monosomy 21. Eur J Hum Genet. 2008;16, Supl. 2: 159.
 
115.   Sørensen KM, Andersen PS, Larsen LA, Schwartz M, Schouten J, Nygren A. A novel MLPA technique for copy number analysis on small amounts of DNA.
 
XXII Sandbjerg Symposium, Danish Society for Neuroscience
Sandbjerg Manor, May 04, 2008
Oral presentations
114.   Niels Tommerup. The latest discoveries of the complexity of the human genome.
 
113.   Mads Bak. Array for detection of microRNA.
 
112.   Asli Silahtaroglu. Use of LNA for in situ detection of microRNAs.
 
Interplay among genetics, epigenetics and non-coding RNAs, MC-GARD conferences
Madrid, Spain, May 04, 2008
Posters
111.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
 
American Society of Cell Biology
Washington, December 01, 2007
Posters
110.   Clement CA, Kristensen SG, Yoder B, Tümer Z, Christensen ST, Larsen LA. The primary cilium coordinates hedgehog signaling in the mouse P19.CL6 embryonal carcinoma stem cells.
 
Molecular Biology of Sleep Disorders
Glostrup Hospital, November 29, 2007
Oral presentations
109.   Niels Tommerup. The Genome.
 
Dansk Neurologisk Selskab
Domus Medica, København, November 19, 2007
Oral presentations
108.   Niels Tommerup. Neurogenetik - hvad kan vi og hvor er vi på vej hen.
 
Dansk Selskab for medfødte Hjertesygdomme
Odense Universitetshospital, November 15, 2007
Oral presentations
107.   Larsen LA. Genetiske årsager til medfødte hjertesygdomme.
 
Preimplantation Diagnostics in Nigeria
Abuja, Nigeria, October 29, 2007
Oral presentations
106.   Claus Hansen. Pre-implantation genetic diagnostice - Sickle-cell anemia and beyond.
 
American Society of Human Genetics
San Diego, October 23, 2007
Posters
105.PDF  Larsen LA, Zhang L, Barbi G, Møllgård K, Bendsen E, Møller R, Ullmann R, Tümer Z, Tommerup N. The leukemia associated gene RUNX1T1 (MTG8/ETO) is involved in heart and brain development.
 
Pediatric-Genetic Meeting
University Hospital, Lund, Sweden, September 28, 2007
Oral presentations
104.   Niels Tommerup. Chromosomal and genomic rearrangements associated with congenital disorders.
 
Centre for Comparative Genome Research, University of Copenhagen
Gilleleje Kursuscenter, September 13, 2007
Oral presentations
103.   Niels Tommerup. Chromosomal and Genomic Rearrangements. Natural mutations of protein coding and non-coding genes and.
 
Institute of Human Genetics, Aarhus University, Denmark
Sandbjerg Kursuscenter, Sønderborg, September 07, 2007
Oral presentations
102.   Niels Tommerup. Molecular Cytogenetics & Systems Biology.
 
Finnish deafblindness association
Helsinki, Finland, September 07, 2007
Oral presentations
101.   Lisbeth Tranebjærg. Oprettelse af finsk expertteam i deafblindness.
 
X. National Congress of Turkish Association of Medical Biology and Genetics
Antalya, Turkey, September 06, 2007
Oral presentations
100.   Asli Silahtaroglu. MicroRNAs in brain development.
 
The 1st Stavanger Reading and Writing Conference
The National Centre for Reading Education and Research at the University of Stavanger, Norway, August 31, 2007
Posters
99.   Niels Tommerup, Iben Bache, Roberta Buonincontri, Elena Grigorenko. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
 
Lundbeck Foundation
BRIC, August 20, 2007
Oral presentations
98.   Niels Tommerup. High throughput sequencing.
 
1st International Summer School in Functional Genomics
The Panum Institute, University of Copenhagen, Denmark, August 13, 2007
Oral presentations
97.   Niels Tommerup. The Human Genome - Introduction to the Summer School.
 
96.   Lars Allan Larsen. Mutation detection.
 
95.   Zeynep Tümer. Disease gene mapping.
 
94.   Sakari Kauppinen. The microRNA World.
 
European Human Genetics Conference 2007
Nice, France, June 16, 2007
Posters
93.PDF  Lars Hansen, H. Eiberg, K. W. Kjaer, T. Rosenberg. Congenital Cataract - A National Wide Study in Denmark, The Congenital Cataract Mutation Database - Diagnostic Analyses.
 
92.   Erdogan F, Larsen LA, Zhang L, Tümer Z, Tommerup N, Chen W, Jacobsen JR, Schubert M, Jurkatis J, Tzschach A, Ropers H H, Ullmann R. High Frequency of Submicroscopic DNA copy number changes in patients with congenital heart disease.
 
XVII Corso di Genetica Medica
San Giovanni Rotondo FG, Italy, June 07, 2007
Oral presentations
91.   Niels Tommerup. Mendelian Cytogenetics - and beyond.
 
Bioinformatics & Gene Discovery
CBS, Technical University of Denmark, Lyngby, June 04, 2007
Oral presentations
90.   Niels Tommerup. Genetics & Gene Discovery.
 
89.   Claus Hansen. Quantitave PCR.
 
International Workshop on the Biology and Genetics of Music
Bologna, Italy, May 20, 2007
Posters
88.PDF  Tommerup N, Bache I, Vuust P. Searching for genes involved in musicality by a chromosomal approach.
 
Norsk Social -og Helsedepartement
Oslo, May 15, 2007
Oral presentations
87.   Lisbeth Tranebjærg. Døvblindhed hos ældre - fokus på arvelige faktorer.
 
Psykiatri og genetik
Amager Hospital, April 24, 2007
Oral presentations
86.   Niels Tommerup. Psykiatri og genetik.
 
Danish Epilepsy Society, Annual Meeting 2007
Middelfart, Denmark, March 02, 2007
Oral presentations
85.   Niels Tommerup. The Genome.
 
84.   Zeynep Tümer. Methods in genetics.
 
83.   Rikke Møller. Genetics of brain malformations and epilepsy.
 
7th Danish Dysmorphology Meeting
Glostrup, Denmark, January 18, 2007
Oral presentations
82.   Niels Tommerup. AUTS2 mutations - a new autosomal dominant cause of MR/autism. Hum Genet. 2007;121:501-9.
 
Genetics of Cardiovascular Disease and the Obstructive Sleep Apnoe Syndrome
Ny Carlsberg Glyptotek, Copenhagen, November 17, 2006
Oral presentations
81.   Lars Allan Larsen. Functional genomics in the study of complex disease: Strategies and technologies.
 
Hørehæmmede børns forældreforening
, November 11, 2006
Oral presentations
80.   Lisbeth Tranebjærg. Hvor arveligt er hørehandicap- og hvordan kan vi undersøge det ?.
 
KISØs personaledag: KISØs fremtid i strategisk perspektiv
Blindeinstituttets festsal, Rymarksvej 1, Hellerup, October 31, 2006
Oral presentations
79.   N. Tommerup. Visioner og fremtid for Medicinsk Genetik.
 
1st International Symposium on Usher syndrome and related diseases
Omaha, Nebraska, USA, October 04, 2006
Oral presentations
78.   Lisbeth Tranebjærg. Genetic causes of deafblindness.
 
Integrative approaches to brain complexity. Cold Spring Harbor Laboratory/Wellcome Trust Conference
Sanger Centre, Hinxton, UK, September 28, 2006
Oral presentations
77.   Towards a microRNA brain atlas. Silahtaroglu A, Bak M, Christensen M, Møller M, Skrypin B, Tommerup N, Kauppinen S.
 
11th International Congress of Human Genetics (ICHG 2006)
Brisbane, August 06, 2006
Posters
76.PDF  Engenheiro E, Goode D, Callaway H, Pinto M, Soares G, Woolfe A, Tümer Z, Elgar G, Tommerup N. Disruption of a cluster of conserved non-coding elements by a translocation breakpoint distal to HMX2/HMX3.
 
7th European Congress of Epileptology
Helsinki, Finland, July 02, 2006
Posters
75.   Møller RS, Tümer Z, Hansen CP and Tommerup N. Mapping of chromosomal breakpoints associated with corpus callosum agenesis and epilepsy: a bypass for isolation of candidate disease genes.
 
NOK 2006 XXXVII Nordic Congress of Ophthalmology
Copenhagen, Denmark - June 17-20, 2006, June 17, 2006
Posters
74.   Hansen L, Rosenberg T, Eiberg H, Kjær K. Mutation identification in Danish families with congenital cataract. Acta Ophthalmologica Scandinavica, June 2006 - Vol. 84 Issue s238 Page 4-122.
 
Oral presentations
73.   Hansen L, Rosenberg T, Thygesen J, Bek T, Kreiborg S, Engenheiro E, Tommerup N. The genetic background for Rieger syndrome, Rieger’s anomaly and Peters’ anomaly – a complex etiology with complex genetics. Acta Ophthalmologica Scandinavica, June 2006 - Vol. 84 Issue s238 Page 4-122.
 
71st CSHL SYMPOSIUM: Regulatory RNAs
Cold Spring Harbor Laboratory, May 31, 2006
Posters
72.   Bak M, Silahtaroglu AN, Christensen M, Møller M, Skryabin B, Kloosterman W, Nolting D, Rath MF, Brosius J, Plasterk R, Tommerup N, Kauppinen S. microRNAs in the mammalian brain.
 
Nordisk audiologisk forenings møde 2006
Stavanger, Norge, May 29, 2006
Posters
71.   Tranebjaerg L. DFNA20/DFNA26.
 
70.   Tranebjærg L. Branchio-otic-syndrome.
 
European Human Genetics Conference 2006 (ESHG 2006)
Amsterdam, Holland, May 06, 2006
Posters
69.PDF  Lars Hansen, Wenliang Yao , Klaus Kjær , Hans Eiberg , Mikkel Funding, Niels Ehlers, James Fielding Hejtmancik, Thomas Rosenberg. Ant-egg-cataract, distinct phenotype for an autosomal dominant congenital cataract first described in a Danish family in 1967.
 
68.PDF  Thomas Rosenberg , Wenliang Yao , Klaus Kjær , Hans Eiberg , James Fielding Hejtmancik , Lars Hansen. Mutation analyses in families with congenital cataract with and without microcornea.
 
Turkish Association of Medical Genetics Conference
Kayseri, Turkey, May 01, 2006
Oral presentations
67.   Asli Silahtaroglu. MicroRNAs.
 
Harold Klinger Memmorial Award Lecture, American Cytogenetics Conference 2006
Lake Lanier, Atlanta, Georgia, April 27, 2006
Oral presentations
66.   Niels Tommerup. Functional characterization of the human genome by chromosomal rearrangements. Harold Klinger Memorial Award Lecture.
 
ØNH lægernes årlige vårmøde
, April 06, 2006
Oral presentations
65.   Lisbeth Tranebjærg. Audiogenetik.
 
64.   Kirtsen Sanggård. Brankio-oto-renalt syndrom.
 
63.   Ida Rosendal Johansen. Otosklerose.
 
Dansk Epilepsi Selskab Årsmøde
Gl. Avernæs, March 10, 2006
Oral presentations
62.   Rikke Møller. Characterisation of chromosomal breakpoints associated with epilepsy and corpus callosum agenesis.
 
Keystone Symposia: RNAi and Related Pathways
Vancouver, British Columbia, Canada, January 26, 2006
Posters
61.   Christensen M, Bak M, Silahatroglu A, Kloostermann W, Skryapin B, Nolting D, Nørremølle A, Lassen A-C, Hasholt L, Brosius J, Tommerup N, Plasterk R, Kauppinen S. miRNAs in mammalian brain.
 
Visit to National Institute of Health, Washington, USA
NIH, December 10, 2005
Posters
60.PDF  Hjorth M. Presentation of MCNdb at NIH.
 
First International Biocurator Meeting
Asilomar, CA, USA, December 08, 2005
Posters
59.PDF  Hjorth M, Halgren C, Bache I, Bugge M, Tommerup N. Mendelian Cytogenetic Network Database, www.mcndb.org.
 
The Marie-Curie Conferences and Training Courses on array CGH and molecular cytogenetics
Bari,Italy, October 18, 2005
Posters
58.PDF  Zhang L, Bækvad-Hansen M, Bache I, Bugge M, Ashraf I, Ramsoe J J, Tommerup N, Tumer Z, Larsen L A. FISH Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects.
 
30th FEBS Congress - 9th IUBMB Conference
Budapest, Hungary, July 02, 2005
Posters
57.PDF  Vestergaard J, Pedersen MW, Hasholt L, Tommerup N, Tumer Z and Larsen LA. siRNA mediated knock-down of the Hedgehog pathway member GLI1 inhibits the proliferation of NT2 neuronal precursor cells.
 
European Human Genetics Conference 2005 (ESHG 2005)
Prague, May 07, 2005
Posters
56.PDF  Engenheiro E, Carvalho T, Marques I, Ramos L, Kalscheuer V, Tümer, Z Carmo-Fonseca M, Tommerup N. Reduced cajal body number in a patient haploinsufficient for COIL.
 
55.PDF  Holstebroe S, Tommerup N. A subset of miRNA genes are associated with CpG-islands.
 
54.PDF  Larsen LA, Bækvad-Hansen M, Delicado A, Kalscheuer V, Tommerup N, Tumer Z. Delineation of a 5q35 microdeletion in congenital heart disease: haploinsufficiency of NKX2-5 can cause Ebstein anomaly.
 
53.PDF  Hjorth M, Engenheiro E, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. Visualization of 2260 chromosomal breakpoints in Mendelian Cytogenetics Network database associated with Mental Retardation.
 
52.PDF  Kjaer KW, Lehmann K, Nurnberg P, Tommerup N, Mundlos S. A new locus for brachydactyly type A2 maps to chromosome 20p.
 

22.4.39, March 30, 2005
Posters
51.   Hansen L, Rosenberg T, Eiberg H, Kjær K. Mutation identification in Danish families with congenital cataract. Acta Ophthalmologica Scandinavica, 84, s238, Page 120-122, Jun 2006.
 
Genes, Hearing and Deafness. From molecular biology to clinical practice
Caserta, Italy, March 17, 2005
Posters
50.   Rendtorff ND, Zhu M, Fagerheim T, Antal T, Jones M-P, Teslovish TM, Gillanders EM, Barmada MM, Teig E, Trent JM, Friderici K, Stephan DA, Tranebjærg L. A novel missense mutation in the γ-actin 1 gene (ACTG1) is the cause of dominant, late-onset progressive, hearing loss in a large Norwegian family linked to DFNA20/26.
 
49.   Sadeghi M, Cohn ES, Kimberling WJ, Tranebjærg L, Möller C. Audiological and vestibular features in affected subjects with Usher syndrome type III (USH3).
 
48.   Sadeghi M, Kimberling WJ, Tranebjærg L, Möller C. The prevalence of Usher syndrome in Sweden: A nation-wide epidemiological and clinical survey.
 
54th Meeting of the American Society of Human Genetics
Toronto, Canada, October 25, 2004
Posters
47.PDF  Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. Trisomy 13 due to rea(13;13) de novo is caused by i(13;13) and not t(13;13) in the majority of cases.
 
46.PDF  Engenheiro E, Pinto M, Soares G, Marques I, Kalscheuer V, Tommerup N. A Complex Chromosomal Rearrangement associated with Mowat-Wilson Syndrome.
 
45.PDF  Brudzewsky D, Larsen LA, Claesson M, Gad M, Kristensen NN, Knudsen S, Tumer Z. Genome-wide expression analysis in a mouse model of chronic inflammatory bowel disease.
 
The 4th European Mucosal Immunology Group Meeting
Lyon, France, October 07, 2004
Posters
44.PDF  Brudzewsky D, Larsen LA, Claesson M, Gad M, Kristensen NN, Knudsen S, Tumer Z. Genome-wide expression analysis in a mouse model of chronic inflammatory bowel disease.
 
XVIIième Colloque de L'Association des Cytogénéticiens de Langue Francaise
Université de Versailles Saint Quentin en Yvelines, September 19, 2004
Posters
43.PDF  Bugge M, deLozier-Blanchet C, Bak M, Brandt CA, Hertz JM, Nielsen JB, Duprez L, Petersen MB. La trisomie 13 due à rea(13;13) de novo est causée par un isochromosome (13;13) et non pas par translocation (13;13) dans la majorité des cas.
 
European Human Genetics Conference 2004
Münich, June 11, 2004
Posters
42.PDF  Hjorth M, Holstebroe S, Bache I, Bugge M, Tumer Z, Tommerup N. A method for prediction of candidate disease genes and regions by integration of positional, functional and clinical data.
 
41.PDF  Hansen L, Tranebjærg L, Eiberg H, Rosenberg T. Molecular characterization of WFS1 in five Danish patients with Wolfram syndrome.
 
Bergen Meeting
Bergen, May 05, 2004
Posters
40.PDF  Jensen MK, Becher M, Kjaer I, Niebuhr A, Winther K, Cingoz S, Tumer Z, Tommerup N Hjorth M, Bache I. Overhyppighed af kromosom 1 brud blandt infertile mænd med balancerede kromosombrud.
 
Cardiac Development and Congenital Heart Disease
Keystone, Colorado, March 05, 2004
Posters
39.PDF  Bækvad-Hansen M, Zhang L, Jacobsen JR, Delicado A, Fitchett M, Kalscheuer V, Tommerup N, Tumer Z and Larsen LA. Mapping of Chromosomal Breakpoints Associated with Congenital Heart Defects using Fluorescence in-situ hybridization (FISH): a bypass for isolation of candidate disease genes. Keystone Symposia, Keystone, Colorado, USA.
 
53rd Meeting of the American Society of Human Genetics
Los Angeles, USA, November 03, 2003
Posters
38.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18. Am J Hum Genet 2003;73:299 poster 757.
 
37.PDF  Saraiva J, Engenheiro E, Tommerup N, Matoso E, Marques I. Rieger syndrome and a de novo (4;17)(q25; q23.3) translocation. The American Journal of Human Genetics.
 
36.   Hatchwell E, Tommerup N, Kristoffersson U, Stanyon R, KANTARCI S. Joubert Syndrome: a patient with a de novo t(2;22)(q13;q11.1). The American Journal of Human Genetics.
 
Association des Cytogénéticiens de Langue Francaise XVIème Colloque
Geneve, Switzerland, September 21, 2003
Posters
35.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18.
 
4th European Cytogenetics Conference
Bologna, Italy, September 05, 2003
Posters
34.PDF  Bugge M, Brandt CA, Petersen MB. DNA Studies of Mono- and Pseudodicentric Isochromosomes 18.
 
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
Posters
33.PDF  Holstebroe S, Heil B, Ludwig J, Sanders D, Hartung T, Drejer J, Lichtenberg-Fraté H, Tommerup N. Comprehensive annotated database of K+ channel mutations.
 
32.PDF  Kjaer KW, Christensen KS, Hansen L, Tommerup N. Second case of inherited Laurin-Sandrow Syndrome (LSS)?.
 
31.PDF  Cingoz S, Bache I, Kirchoff M, Tumer Z, Ropers HH, Lundsteen C, Tommerup N. Deletion 4q35/duplication 10p15 associated with allergy and arthritis.
 
30.PDF  Bache I, Brondum-Nielsen K, Bugge M, Hansen J, Jensen PKA, Lundsteen C, Niebuhr E, Petersen GB, Rasmussen K, Ropers HH, Tommerup N. Search for late onset diseases among carriers of balanced chromosomal rearrangements.
 
29.PDF  Brudzewsky D, Tommerup N, Lundsteen C, Ropers H H, Schreiber S, Tumer Z. Identification of a chromosomal breakpointat 12q14.1-12q14.2 in a patient with Crohn\'s Disease.
 
28.PDF  Hansen L, Wu Q, Tommerup N. Characterisation of the human Iroquois (IRX) homeobox genes: proposal for a systematic nomenclature.
 
27.PDF  Engenheiro E, Pinto M, Lima M R, Soares G, Marques I, Kalscheuer V, Tommerup N. A t(10;13)(q26;q31)de novo in a patient with mental retardation, epilepsy and ataxia.
 
26.PDF  Larsen LA, Henriksen KF, Christensen EL, Hasholt L, Tommerup N. Down regulation of the Sonic Hedgehog signalling pathway during neuronal differentiation of human teratocarcinoma (NT2) cells.
 
25.PDF  Nickelsen LA, Bugge M, Kalscheuer V, Tommerup N, Tumer Z. Characterisation of chromosomal breakpoints in patients with hearing loss and microcephaly.
 
24.PDF  Gilling M, Tumer Z, Bache I, Bak M, Niebuhr E, Bugge M, Cotterill R M J K. Brøndum-Nielsen3, U. Kristoffersson4, H-H. Ropers 5, N. Tommerup1. FISH-mapping of translocation breakpoints associated with autism.
 
Workshop
Lund, Sweden, November 17, 2002
Oral presentations
23.   Tommerup N. The standing committee of the International System for Human Cytogenetic Nomenclature (ISCN).
 
16th International Mouse Genome Conference
Houston,Texas, USA, November 16, 2002
Posters
22.   Harboe TL, Tumer Z, Jensen NA, Tommerup N. The generation of a transgenic model for mouse ZNF151.
 
52nd Annual Meeting of The American Society of Human Genetics
Baltimore, Maryland, USA, October 14, 2002
Posters
21.   Frank-Hansen R, Larsen LA, Andersen PS, Jespersgaard C, Christiansen M. Mutations in the genes KCND2 and KCND3 encoding the ion-channels conducting the cardiac transient outward current (ITO) is not a frequent cause of long QT syndrome. Am J Human Genet 2002;71(supp):521 (Poster 2059).
 
20.   Andersen PS, Jespersgaard C, Brown C, Vuust J, Christiansen M, Larsen LA. High throughput automated mutation discovery. Am J Human Genet 2002;71(supp):406 (Poster 1377).
 
19.   Christiansen M, Tønder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, Kanters JK, Jacobsen JR, Fosdall I, Wettrell G, Kjeldsen K. Mutations in the HERG ion channel: A novel link between long QT syndrome and sudden infant death syndrome. Am J Human Genet 2002;71(supp):323 (Poster 880).
 
18.   Bugge M, Petersen MB, Bak M, Brandt CA, Hertz JM, Tranebjaerg L, Delozier-Blanchet CD, Petersen GB, Lundsteen C, Lespinasse J, Rasmussen K, Mikkelsen M. Nondisjunction studies in trisomy 13. Am J Human Genet 2002;71 (supp): 292 (Poster 704).
 
Association des Cytogénéticiens de Langue Francaise
Toulouse, France, September 15, 2002
Posters
17.   Bugge M, Petersen MB, Bak M, Brandt CA, Hertz JM, Tranebjaerg L, Delozier-Blanchet CD, Petersen GB, Lundsteen C, Lespinasse J, Rasmussen K, Mikkelsen M. Non-disjonction de trisomie 13.
 
P.A.L.M. Workshop
Bernried, Germany, June 16, 2002
Oral presentations
16.   Tommerup N. Mendelian Cytogenetics Network - a collaborative effort to identify disease genes associated with balanced chromosome breakpoints.
 
European Human Genetics Conference 2002
Strasbourg, France, May 24, 2002
Posters
15.   Silahtaroglu AN, Poulsen TS, Gisselø CG, Tommerup N, Johnsen HE. Detection of illegitimate rearrangements within the immunoglobulin light chain loci in B-cell malignancies. Eur J Hum Genet 2002:10(supp);106 (poster 0152).
 
14.   Bache I, Tumer Z, Markus S, Ebner S, Lundsteen C, Kalscheuer V, Ropers HH, Tommerup N. A balanced 9;18-translocation associated with growth retardation, speech impairment, deep-set eyes and prominent nose. Eur J Hum Genet 2002:10(supp);130 (poster 0267).
 
13.   Boonen SE, Tumer Z, Tommerup N, Stahl D, Rosenberg T, Kreiborg S, Kalscheuer V, Brondum-Nielsen K. Gorlin syndrome in a patient with deletion of the distal part of chromosome 9q and fine mapping of the breakpoints with fluorescence in situ hybridization (FISH). Eur J Hum Genet 2002:10(supp);117 (poster 0201).
 
12.   Hoeltzenbein M, Schroer A, Wirth J, Heye B, Stegel-Rutkowski S, Tommerup N, Ropers HH, Kalscheuer VM. Haploinsufficiency of DYRK1A on chromosome 21q22.2 is associated with microcephaly. Eur J Hum Genet 2002:10(supp);239 (poster 0783).
 
11.   Kalscheuer VM, Jiong T, Hollway G, Schwinger E, Hoeltzenbein M, Eyre H, Tommerup N, Ropers HH, Gecz J. TITEL MANGLER. Eur J Hum Genet 2002:10(supp);273 (poster 0939).
 
Oral presentations
10.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Opitz JM, Tommerup N. A systematic study of limb defects in Denmark. Eur J Hum Genet 2002:10(supp);67 (C31).
 
9.   Rasmussen KR, Lundsteen C, Ropers HH, Tommerup N. Mendelian Cytogenetics Network database (MCNdb): New improved version. Eur J Hum Genet 2002:10(supp);61 (C04).
 
8.   Ruiz-Casares E, Tumer Z, Bugge M, Henriques-Gil N, Rodriguez L, Lopez F, Kroisel P, Wagner K, Lundsteen C, Kalscheuer V, Tommerup N. Mapping of chromosomal breakpoints associated with orofacial clefts. Eur J Hum Genet 2002:10(supp);161 (poster 0418).
 
Genetics of Inflammatory Bowel Disease
Kiel, Germany, April 19, 2002
Oral presentations
7.   Tommerup N. Mendelian Cytogenetics Network - a strategy for identification of novel disease genes.
 
Danish Society of Medical Genetics
Odense, Denmark, February 27, 2002
Oral presentations
6.   Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Opitz JM, Tommerup N. A systematic study of limb defects in Denmark.
 
5.   Tommerup N. Wilhelm Johannsen Centre for Functional Genome Research.
 
1ère Assises de Génétique Humaine et Médicale
Marseille, France, January 17, 2002
Posters
4.   Lespinasse J, Fer-Ferer S, Lundsteen C, Paravy C, Brunel MJ, Curtaud MF, Revel L, Réthoré MO, Kirshoff M, Romana S, Guzzo N, Chazalet S, Favre A, Quack B, Bugge M. Remainiements Chromosomiques complexes (5 nouveaux cas) et remainiment chromosomique multiple (1 nouveau cas): l'apport des outils de la génétique moléculaire et concequences sur le conseil génétique.
 
The 60th Annual Meeting of the American Society of Human Genetics, November 2010, Washington, DC. US
Washington, DC. USA,
Posters
3.   S. Minocherhomji. A familial translocation as a model for decoding regulatory mechanisms associated with an inherited epimutation. The 60th Annual Meeting of the American Society of Human Genetics, November 2010, Washington, DC. USA.
 
Wellcome Trust Advanced Courses: Functional Genomics & Systems Biology
Genome Campus Hinxton, Cambridge UK,
Oral presentations
2.   S. Minocherhomji. Using a translocation breakpoint to study chromatin plasticity. Wellcome Trust Advanced Courses: Functional Genomics & Systems Biology, Genome Campus Hinxton, Cambridge UK 17-26 June 2009.
 
38th Annual Meeting of the Danish Society for Biochemistry and Molecular Biology
Helsingor, Denmark,
Posters
1.   Elschich Z*, S Minocherhomji*, K Møllgård, N Tommerup & A Silahtaroglu. Characterizing 5-hydroxy methylcytosine (5hmC) in mammalian development. 38th Annual Meeting of the Danish Society for Biochemistry and Molecular Biology.