Helger G. Yntema

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

• Presence of Genetic Variants Among Young Men With Severe COVID-19.

  Caspar I. van der Made;Annet Simons;Janneke Schuurs-Hoeijmakers;Guus van den Heuvel

  767
  Citations

• Guidelines for diagnostic next-generation sequencing.

  Gert Matthijs;Erika Souche;Mariëlle Alders;Anniek Corveleyn

  534
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  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

• 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

• 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 ARHGEF6 , encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

  K. Kutsche;H.G. Yntema;A. Brandt;I. Jantke

  394
  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

• MECP2 is highly mutated in X-linked mental retardation

  P Couvert;T Bienvenu;C Aquaviva;K Poirier

  330
  Citations

• Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

  Simone Martinelli;Alessandro De Luca;Emilia Stellacci;Cesare Rossi

  274
  Citations

• Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome Type II

  Erwin van Wijk;Ronald J.E. Pennings;Heleen te Brinke;Annemarie Claassen

  271
  Citations

• A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.

  Lisenka E.L.M. Vissers;Kirsten J.M. Van Nimwegen;Jolanda H. Schieving;Erik Jan Kamsteeg

  249
  Citations

• High prevalence of SLC6A8 deficiency in X-linked mental retardation

  Efraim H. Rosenberg;Ligia S. Almeida;Tjitske Kleefstra;Rose S. deGrauw

  244
  Citations

• Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome

  David A. Koolen;Jamie M. Kramer;Kornelia Neveling;Willy M. Nillesen

  240
  Citations

• Further clinical and molecular delineation of the 9q Subtelomeric Deletion Syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

  T Kleefstra;W A van Zelst-Stams;W M Nillesen;V Cormier-Daire

  234
  Citations

• Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

  Vera M. Kalscheuer;Kristine Freude;Luciana Musante;Lars R. Jensen

  192
  Citations

• Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

  Ernie M.H.F. Bongers;Pascal H.G. Duijf;Sylvia E.M. van Beersum;Jeroen Schoots

  192
  Citations

• Update on Kleefstra Syndrome

  M.H. Willemsen;A.T. Vulto-van Silfhout;W.M. Nillesen;W.M. Wissink-Lindhout

  191
  Citations