Rolph Pfundt

Overview

Best Publications

• Genome sequencing identifies major causes of severe intellectual disability

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

  1228
  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

• 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

• 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

• High Expression Levels of Keratinocyte Antimicrobial Proteins in Psoriasis Compared with Atopic Dermatitis

  Gys J. de Jongh;Patrick L.J.M. Zeeuwen;Martina Kucharekova;Rolph Pfundt

  363
  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

• Extending the phenotype of recurrent rearrangements of 16p11.2: Deletions in mentally retarded patients without autism and in normal individuals

  E.K. Bijlsma;A.C.J. Gijsbers;J.H.M. Schuurs-Hoeijmakers;A. van Haeringen

  315
  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

• Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders

  Ian M. Campbell;Bo Yuan;Caroline Robberecht;Rolph P. Pfundt

  274
  Citations

• Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

  Cecilie Bredrup;Sophie Saunier;Sophie Saunier;MacHteld M. Oud;Torunn Fiskerstrand;Torunn Fiskerstrand

  265
  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

• 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

• Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.

  Leendert H.J. Looijenga;Remko Hersmus;Ad J.M. Gillis;Rolph Pfundt

  233
  Citations

• Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.

  Tony Roscioli;Tony Roscioli;Erik-Jan Kamsteeg;Karen Buysse;Isabelle Maystadt

  227
  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

• Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

  Rolph Pfundt;Marisol del Rosario;Lisenka E.L.M. Vissers;Michael P. Kwint

  175
  Citations

• Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

  Marjolein H Willemsen;Astrid Vallès;Laurens A M H Kirkels;Mathilde Mastebroek

  174
  Citations