Bregje W.M. van Bon

Overview

Best Publications

• Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

  Joep de Ligt;Marjolein H. Willemsen;Bregje W. M. van Bon;Tjitske Kleefstra

  1986
  Citations

• Genome sequencing identifies major causes of severe intellectual disability

  Christian Gilissen;Jayne Y. Hehir-Kwa;Djie Tjwan Thung;Maartje van de Vorst

  1228
  Citations

• A de novo paradigm for mental retardation.

  Lisenka E L M Vissers;Joep de Ligt;Christian Gilissen;Irene Janssen

  948
  Citations

• Refining analyses of copy number variation identifies specific genes associated with developmental delay

  Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  719
  Citations

• De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

  Alexander Hoischen;Bregje W M van Bon;Christian Gilissen;Peer Arts

  583
  Citations

• An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

  Catherine A. Brownstein;Alan H. Beggs;Nils Homer;Barry Merriman

  435
  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

• Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

  B W M van Bon;H C Mefford;B Menten;D A Koolen

  314
  Citations

• De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome

  Alexander Hoischen;Bregje W M van Bon;Benjamín Rodríguez-Santiago;Benjamín Rodríguez-Santiago;Christian Gilissen

  305
  Citations

• De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

  Jean-Baptiste Rivière;Bregje W. M. van Bon;Alexander Hoischen;Stanislav S. Kholmanskikh

  304
  Citations

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Claire Redin;Claire Redin;Harrison Brand;Harrison Brand;Ryan L Collins;Ryan L Collins;Tammy Kammin

  295
  Citations

• Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

  Michael E. Talkowski;Sureni V. Mullegama;Jill A. Rosenfeld;Bregje W M Van Bon

  239
  Citations

• Coffin–Siris Syndrome and the BAF Complex: Genotype–Phenotype Study in 63 Patients

  Gijs W E Santen;Emmelien Aten;Anneke T. Vulto-van Silfhout;Caroline Pottinger

  237
  Citations

• Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome

  Nathalie Van der Aa;Liesbeth Rooms;Geert Vandeweyer;Jenneke van den Ende

  227
  Citations

• Cantú Syndrome Is Caused by Mutations in ABCC9

  Bregje W.M. van Bon;Christian Gilissen;Dorothy K. Grange;Raoul C.M. Hennekam

  196
  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

• Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

  Marjolein H Willemsen;Lisenka E L Vissers;Michèl A A P Willemsen;Bregje W M van Bon

  186
  Citations

• Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

  Damien L. Bruno;Britt Marie Anderlid;Anna Lindstrand;Conny Van Ravenswaaij-Arts

  171
  Citations

• Baraitser-Winter cerebrofrontofacial syndrome: Delineation of the spectrum in 42 cases

  Alain Verloes;Nataliya Di Donato;Julien Masliah-Planchon;Marjolijn Jongmans

  145
  Citations

• YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

  Michele Gabriele;Anneke T. Vulto-van Silfhout;Pierre Luc Germain;Alessandro Vitriolo

  143
  Citations