Wilhelm
DG LogoUniversity of Copenhagen
WJC banner
Home
Staff
News
Research
Bioinformatics
Collaborators
Calendar
Courses, symposia, seminars
Publications
Summer School
Travel info
Links
Positions
Internal



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







Centre contact information

Valid HTML 4.01!

Rikke S Møller

Rikke S Møller

Visiting scientist / Gæsteforsker

Genetic causes of congenital brain malformations in epilepsy patients

Emailrikkmo@sund.ku.dk
Phone27836

Add this person to your address book

Search PubMed for articles by Rikke S Møller

Publications related to WJC

18.   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.
 
17.   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].
 
16.   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].
 
15.   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.
 
14.   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.
 
13.   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.
 
12.   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.
 
11.   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.
 
10.   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.
 
9.   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.
 
8.   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.
 
7.   Klitten LL, Tommerup N, Hjalgrim H, Møller RS. 9q Subtelomeric deletion syndrome with diaphragmatic hernia. Am J Med Genet A. 2009;149:1086-8.
 
6.   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.
 
5.   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.
 
4.   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.
 
3.   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.
 
2.   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.
 
1.   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.
 

Presentations related to WJC

The European Human Genetics Conference 2008
Barcelona, Spain, May 31, 2008
Posters
2.   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.
 
7th European Congress of Epileptology
Helsinki, Finland, July 02, 2006
Posters
1.   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.
 

Back to staff