Koen L.I. van Gassen

Overview

Best Publications

• A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases

  Kornelia Neveling;Ilse Feenstra;Christian Gilissen;Lies H. Hoefsloot

  430
  Citations

• Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

  Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  331
  Citations

• De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

  Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  190
  Citations

• Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

  Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  189
  Citations

• Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability

  Glen R Monroe;Gerardus W Frederix;Sanne M C Savelberg;Tamar I de Vries

  187
  Citations

• Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss

  Akemi J. Tanaka;Megan T. Cho;Francisca Millan;Jane Juusola

  167
  Citations

• Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort.

  Koen L. I. van Gassen;Charlotte D. C. C. van der Heijden;Susanne T. de Bot;Wilfred F. A. den Dunnen

  154
  Citations

• De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

  Karin Weiss;Paulien A. Terhal;Lior Cohen;Lior Cohen;Michael Bruccoleri

  138
  Citations

• Possible role of the innate immunity in temporal lobe epilepsy.

  Koen L I van Gassen;Marina de Wit;Marian J A Groot Koerkamp;Marije G A Rensen

  136
  Citations

• De novo mutations in beta - catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

  Alma Kuechler;Marjolein H Willemsen;Beate Albrecht;Carlos A Bacino

  126
  Citations

• B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability

  Gunnar Houge;Dorien Haesen;Lisenka E.L.M. Vissers;Sarju Mehta

  122
  Citations

• Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

  Rikke S Møller;Thomas V Wuttke;Ingo Helbig;Carla Marini

  122
  Citations

• Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita

  Marjolijn C.J. Jongmans;Eugene T.P. Verwiel;Yvonne Heijdra;Tom Vulliamy

  112
  Citations

• Aminoacyl-tRNA synthetase deficiencies in search of common themes.

  Sabine A. Fuchs;Imre F. Schene;Gautam Kok;Jurriaan M. Jansen

  109
  Citations

• Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.

  Florian Villegas;Florian Villegas;Daphné Lehalle;Daniela Mayer;Daniela Mayer;Melanie Rittirsch

  107
  Citations

• BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells

  Davor Lessel;Christina Gehbauer;Nuria C Bramswig;Caroline Schluth-Bolard

  98
  Citations

• CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

  Lot Snijders Blok;Lot Snijders Blok;Lot Snijders Blok;Justine Rousseau;Joanna Twist;Sophie Ehresmann

  96
  Citations

• De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

  Brieana Fregeau;Bum Jun Kim;Andrés Hernández-García;Valerie K Jordan

  96
  Citations

• Mutations in N -acetylglucosamine ( O -GlcNAc) transferase in patients with X-linked intellectual disability.

  Anke P. Willems;Mehmet Gundogdu;Marlies J.E. Kempers;Jacques C. Giltay

  91
  Citations

• De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

  Ilaria Guella;Marna B. McKenzie;Daniel M. Evans;Sarah E. Buerki

  88
  Citations