Concepedia

Hans Scheffer

HS

Statistics

Publications

145

Citations

14.2K

H-Index

62

Active since

1986

Affiliations

Radboud University Nijmegen(Current)

Radboud University Medical Center

University of Groningen

University Medical Center Groningen

Radboud Institute for Molecular Life Sciences

Hans Scheffer is an author at Radboud University Nijmegen specializing in genetics, life sciences, and medical genetics.

ORCID

Publications per year

1986–2023

145

Publications

145

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

Joep de Ligt, Marjolein H. Willemsen, Bregje W.M. van Bon et al. · New England Journal of Medicine · 2012 · 1.6K citations · Full text

, , +16

Guidelines for diagnostic next-generation sequencing

Gert Matthijs, Erika Souche, Mariëlle Alders et al. · European Journal of Human Genetics · 2015 · 519 citations · Full text

, , +16

Excessive burden of lysosomal storage disorder gene variants in Parkinson’s disease

Laurie Robak, Iris E. Jansen, Jeroen van Rooij et al. · Brain · 2017 · 451 citations · Full text

, , +17

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

Willemijn G. Leen, Jörg Klepper, Marcel M. Verbeek et al. · Brain · 2010 · 413 citations · Full text

, , +14

Whole-genome sequencing in health care

Carla van El, Martina C. Cornel, Pascal Borry et al. · European Journal of Human Genetics · 2013 · 383 citations · Full text

, , +12

1–5 of 145