Rikke S. Møller

Overview

Best Publications

• Analysis of shared heritability in common disorders of the brain

  Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  1978
  Citations

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

  Gemma L Carvill;Sinéad B Heavin;Simone C Yendle;Jacinta M McMahon

  753
  Citations

• 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

  Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  667
  Citations

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

  Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  570
  Citations

• Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

  Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  516
  Citations

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  501
  Citations

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  470
  Citations

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Mikko Muona;Samuel F. Berkovic;Leanne M. Dibbens;Karen L. Oliver

  341
  Citations

• De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  337
  Citations

• STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

  Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi

  335
  Citations

• Progress in Understanding and Treating SCN2A-Mediated Disorders

  Stephan J. Sanders;Arthur J. Campbell;Jeffrey R. Cottrell;Rikke S. Moller

  316
  Citations

• De novo variants in neurodevelopmental disorders with epilepsy.

  Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  307
  Citations

• GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

  Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

  302
  Citations

• The phenotypic spectrum of SCN8A encephalopathy

  Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger

  300
  Citations

• Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

  Martin H. Berryer;Fadi F. Hamdan;Laura L. Klitten;Rikke S. Møller

  298
  Citations

• Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

  Heather C. Mefford;Séverine Clauin;Andrew J. Sharp;Rikke S. Moller

  295
  Citations

• De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

  Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

  279
  Citations

• Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

  Richard Anney;A. Avbersek;D. Balding;L. Baum

  275
  Citations

• GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  272
  Citations

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  263
  Citations

• De novo mutations in HCN1 cause early infantile epileptic encephalopathy

  Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  262
  Citations

• Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

  Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

  33
  Citations