Bert B.A. de Vries

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

• Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

  Lisenka E L M Vissers;Conny M A van Ravenswaaij;Ronald Admiraal;Jane A Hurst

  1344
  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

• The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

  Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  923
  Citations

• Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

  Heather C Mefford;Andrew J Sharp;Carl Baker;Andy Itsara

  852
  Citations

• The Human Phenotype Ontology in 2017

  Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  826
  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

• Diagnostic Genome Profiling in Mental Retardation

  Bert B.A. de Vries;Rolph Pfundt;Martijn Leisink;David A. Koolen

  681
  Citations

• Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

  Sébastien Jacquemont;Alexandre Reymond;Flore Zufferey;Louise Harewood

  557
  Citations

• Array-Based Comparative Genomic Hybridization for the Genomewide Detection of Submicroscopic Chromosomal Abnormalities

  Lisenka E.L.M. Vissers;Bert B.A. de Vries;Kazutoyo Osoegawa;Irene M. Janssen

  549
  Citations

• A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism

  David A. Koolen;Lisenka E.L.M. Vissers;Rolph Pfundt;Nicole De Leeuw

  513
  Citations

• Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

  Stefan H Lelieveld;Margot R F Reijnders;Rolph Pfundt;Helger G Yntema

  464
  Citations

• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

  Tjitske Kleefstra;Han G. Brunner;Jeanne Amiel;Astrid R. Oudakker

  421
  Citations

• A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

  Céline Helsmoortel;Anneke T Vulto-van Silfhout;Bradley P Coe;Geert Vandeweyer

  360
  Citations

• A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

  Flore Zufferey;Elliott H. Sherr;Noam D. Beckmann;Ellen Hanson

  348
  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

• 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

  Lionel Willatt;James Cox;John Barber;Elisabet Dachs Cabanas

  275
  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

• Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

  Karen M Lower;Karen M Lower;Gillian Turner;Bronwyn A Kerr;Katherine D Mathews

  234
  Citations