Rolph Pfundt

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen, Jayne Y. Hehir‐Kwa, Djie Tjwan Thung et al. · Nature · 2014 · 1.1K citations · Full text

Intellectual Impairment, Genetics, Severe Intellectual Disability +4

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Bradley P. Coe, Kali Witherspoon, Jill A. Rosenfeld et al. · Nature Genetics · 2014 · 734 citations · Full text

Developmental Biology, Developmental Genetics, Genetics +8

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

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 633 citations · Full text

Mendelian Disorder, Medicine, Genetic Epidemiology +9

Diagnostic Genome Profiling in Mental Retardation

Bert B.A. de Vries, Rolph Pfundt, M.A.R. Leisink et al. · The American Journal of Human Genetics · 2005 · 603 citations · Full text

Psychiatry, Genetics, Psychiatric Genetics +4

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8