Erik A. Sistermans

Overview

Best Publications

• Germline KRAS mutations cause Noonan syndrome

  Suzanne Schubbert;Martin Zenker;Sara L . Rowe;Silke Böll

  853
  Citations

• Diagnostic Genome Profiling in Mental Retardation

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

  681
  Citations

• Guidelines for diagnostic next-generation sequencing.

  Gert Matthijs;Erika Souche;Mariëlle Alders;Anniek Corveleyn

  534
  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

• 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

• Patients lacking the major CNS myelin protein, proteolipid protein 1, develop length-dependent axonal degeneration in the absence of demyelination and inflammation.

  James Y. Garbern;Donald A. Yool;Gregory J. Moore;Ian B. Wilds

  335
  Citations

• PPIB mutations cause severe osteogenesis imperfecta.

  Fleur S. van Dijk;Isabel M. Nesbitt;Eline H. Zwikstra;Peter G.J. Nikkels

  323
  Citations

• TRIDENT-2 : National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands

  Karuna R.M. van der Meij;Erik A. Sistermans;Merryn V.E. Macville;Servi J.C. Stevens

  286
  Citations

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

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

  275
  Citations

• CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in the Netherlands: Six novel mutations and a specific cluster of four mutations

  Nike M. M. L. Stikkelbroeck;Lies H. Hoefsloot;Ilse J. de Wijs;Barto J. Otten

  242
  Citations

• L1 retrotransposition can occur early in human embryonic development

  José A.J.M. van den Hurk;Iwan C. Meij;Maria del Carmen Seleme;Hiroki Kano

  226
  Citations

• Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

  T. Kleefstra;M. Smidt;M.J.G. Banning;A.R. Oudakker

  219
  Citations

• Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.

  David A. Koolen;Rolph Pfundt;Nicole de Leeuw;Jayne Y. Hehir-Kwa

  210
  Citations

• Screening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA)

  D A Koolen;W M Nillesen;M H A Versteeg;G F M Merkx

  210
  Citations

• Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

  Nicole I. Wolf;Adeline Vanderver;Rosalina M.L. van Spaendonk;Raphael Schiffmann

  193
  Citations

• Duplication of the proteolipid protein gene is the major cause of Pelizaeus‐Merzbacher disease

  E.A. Sistermans;I.F.M. de Coo;I.J. de Wijs;B.A. van Oost

  192
  Citations

• PLS3 mutations in X-linked osteoporosis with fractures

  Fleur S. van Dijk;M. Carola Zillikens;Dimitra Micha;Markus Riessland

  190
  Citations

• Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis

  Henne Holstege;Wayne Pfeiffer;Daoud Sie;Marc Hulsman

  186
  Citations

• Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus

  Gea Beunders;Els Voorhoeve;Christelle Golzio;Luba M. Pardo

  183
  Citations

• Trial by Dutch laboratories for evaluation of non-invasive prenatal testing.: Part I-clinical impact

  Dick Oepkes;G. C. (Lieve) Page-Christiaens;Caroline J. Bax;Mireille N. Bekker;Mireille N. Bekker

  168
  Citations