Rolph Pfundt

Rolph Pfundt publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Rolph Pfundt sits on this spectrum.

Rolph Pfundt D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Rolph Pfundt sits on this spectrum.

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