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







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Niels Tommerup

Niels Tommerup

Professor, Centre Director / Professor, Center Direktør

Isolation of disease genes by positional cloning/positional candidate gene strategies, by identification and exploitation of disease-associated translocation-breakpoints (Mendelian Cytogenetics), by combining data on gene expression and biological pathways with genome mapping, and by high throughput sequencing. Mapping of gene expression/function during normal and abnormal fetal development and during oncogenesis. Gene expression in relation to genomic imprinting/chromosomal structure/position effects. Functional studies of non-coding RNA genes. Disorders in the brain displaying comorbidity

Emailntommerup@sund.ku.dk
Office24.4.30
Phone27826

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Publications related to WJC

133.   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.
 
132.   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.
 
131.   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].
 
130.   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.
 
129.   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].
 
128.   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].
 
127.   Tommerup N. General Olfactory Sensitivity Data-base: A Unique Knowledgebase for the least Explored of our Major Senses. Hum Mutat. 2013;34(1):vii.
 
126.   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.
 
125.   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.
 
124.   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.
 
123.   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.
 
122.   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.
 
121.   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.
 
120.   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.
 
119.   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].
 
118.   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].
 
117.   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].
 
116.   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.
 
115.   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.
 
114.   Gásdal Karstensen H, Tommerup N. Isolated and syndromic forms of congenital anosmia. Clin Genet. 2012;81:210-5.
 
113.   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.
 
112.   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.
 
111.   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.
 
110.   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.
 
109.   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.
 
108.   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.
 
107.   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.
 
106.   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.
 
105.   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.
 
104.   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.
 
103.   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.
 
102.   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.
 
101.   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.
 
100.   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.
 
99.   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.
 
98.   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.
 
97.   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.
 
96.   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.
 
95.   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.
 
94.   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.
 
93.   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.
 
92.   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.
 
91.   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.
 
90.   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.
 
89.   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.
 
88.   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.
 
87.   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.
 
86.   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.
 
85.   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.
 
84.   Klitten LL, Tommerup N, Hjalgrim H, Møller RS. 9q Subtelomeric deletion syndrome with diaphragmatic hernia. Am J Med Genet A. 2009;149:1086-8.
 
83.   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.
 
82.   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.
 
81.   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.
 
80.   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.
 
79.   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.
 
78.   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.
 
77.   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.
 
76.   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.
 
75.   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.
 
74.   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.
 
73.   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.
 
72.   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.
 
71.   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.
 
70.   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.
 
69.   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.
 
68.   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.
 
67.   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.
 
66.   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.
 
65.   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.
 
64.   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.
 
63.   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.
 
62.   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.
 
61.   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.
 
60.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.
 
59.   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.
 
58.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.
 
57.   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.
 
56.   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.
 
55.   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.
 
54.   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.
 
53.   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.
 
52.   Hansen CP, Moller R, Tumer Z, Tommerup N. Det genetiske grundlag for epilepsi. Ugeskr Laeger. 2007;169:1102.
 
51.   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.
 
50.   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.
 
49.   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.
 
48.   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.
 
47.   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.
 
46.   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.
 
45.   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.
 
44.   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.
 
43.   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.
 
42.   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.
 
41.   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.
 
40.   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.
 
39.   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.
 
38.   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.
 
37.   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.
 
36.   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.
 
35.   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.
 
34.   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.
 
33.   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.
 
32.   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.
 
31.   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.
 
30.   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.
 
29.   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.
 
28.   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.
 
27.   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.
 
26.   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.
 
25.   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.
 
24.   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.
 
23.   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.
 
22.   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.
 
21.   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.
 
20.   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.
 
19.   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.
 
18.   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).
 
17.   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.
 
16.   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.
 
15.   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.
 
14.   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).
 
13.   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.
 
12.   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.
 
11.   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.
 
10.   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.
 
9.   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.
 
8.   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.
 
7.   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.
 
6.   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).
 
5.   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.
 
4.   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.
 
3.   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.
 
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.
 

Presentations related to WJC

58th Annual Meeting of The American Society of Human Genetics
Philadelphia, Pennsylvania, November 11, 2008
Posters
48.   Larsen LA, Lage K, Møllgård K, Workman CT, Bendsen E, Tommerup N, Brunak S. Systematic Identification of Functional Networks in Human Heart Development.
 
49th Annual Short Course on Medical and Experimental Mammalian Genetics
The Jackson Laboratory, Bar Harbor, Maine, USA, July 20, 2008
Posters
47.   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.
 
46.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
 
The European Human Genetics Conference 2008
Barcelona, Spain, May 31, 2008
Posters
45.   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.
 
Interplay among genetics, epigenetics and non-coding RNAs, MC-GARD conferences
Madrid, Spain, May 04, 2008
Posters
44.   Buonincontri R, Bache I, Grigorenko EL, Tommerup N. A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes.
 
American Society of Human Genetics
San Diego, October 23, 2007
Posters
43.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.
 
European Human Genetics Conference 2007
Nice, France, June 16, 2007
Posters
42.   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.
 
International Workshop on the Biology and Genetics of Music
Bologna, Italy, May 20, 2007
Posters
41.PDF  Tommerup N, Bache I, Vuust P. Searching for genes involved in musicality by a chromosomal approach.
 
11th International Congress of Human Genetics (ICHG 2006)
Brisbane, August 06, 2006
Posters
40.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
39.   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
Oral presentations
38.   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
37.   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.
 
Keystone Symposia: RNAi and Related Pathways
Vancouver, British Columbia, Canada, January 26, 2006
Posters
36.   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.
 
First International Biocurator Meeting
Asilomar, CA, USA, December 08, 2005
Posters
35.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
34.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
33.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
32.PDF  Holstebroe S, Tommerup N. A subset of miRNA genes are associated with CpG-islands.
 
31.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.
 
30.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.
 
29.PDF  Kjaer KW, Lehmann K, Nurnberg P, Tommerup N, Mundlos S. A new locus for brachydactyly type A2 maps to chromosome 20p.
 
28.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.
 
54th Meeting of the American Society of Human Genetics
Toronto, Canada, October 25, 2004
Posters
27.PDF  Engenheiro E, Pinto M, Soares G, Marques I, Kalscheuer V, Tommerup N. A Complex Chromosomal Rearrangement associated with Mowat-Wilson Syndrome.
 
European Human Genetics Conference 2004
Münich, June 11, 2004
Posters
26.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.
 
Cardiac Development and Congenital Heart Disease
Keystone, Colorado, March 05, 2004
Posters
25.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
24.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.
 
23.   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.
 
European Human Genetics Conference 2003
Birmingham, England, May 02, 2003
Posters
22.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.
 
21.PDF  Kjaer KW, Christensen KS, Hansen L, Tommerup N. Second case of inherited Laurin-Sandrow Syndrome (LSS)?.
 
20.PDF  Cingoz S, Bache I, Kirchoff M, Tumer Z, Ropers HH, Lundsteen C, Tommerup N. Deletion 4q35/duplication 10p15 associated with allergy and arthritis.
 
19.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.
 
18.PDF  Hansen L, Wu Q, Tommerup N. Characterisation of the human Iroquois (IRX) homeobox genes: proposal for a systematic nomenclature.
 
17.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.
 
16.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.
 
15.PDF  Nickelsen LA, Bugge M, Kalscheuer V, Tommerup N, Tumer Z. Characterisation of chromosomal breakpoints in patients with hearing loss and microcephaly.
 
14.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.
 
Workshop
Lund, Sweden, November 17, 2002
Oral presentations
13.   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
12.   Harboe TL, Tumer Z, Jensen NA, Tommerup N. The generation of a transgenic model for mouse ZNF151.
 
P.A.L.M. Workshop
Bernried, Germany, June 16, 2002
Oral presentations
11.   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
10.   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).
 
9.   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).
 
8.   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).
 
7.   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).
 
6.   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
5.   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).
 
4.   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).
 
3.   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
2.   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
1.   Tommerup N. Wilhelm Johannsen Centre for Functional Genome Research.
 

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