Concepedia

Maartje Pennings

MP

16

Publications

727

Citations

14

H-Index

2013

Active since

Affiliations

Radboud University Medical Center(Current)

Radboud University Nijmegen

University Medical Center Groningen

Maastricht University

University of Groningen

Maartje Pennings is an author at Radboud University Medical Center specializing in medicine, genetics, and clinical genetics.

ORCID

Top concepts

Publications per year

2013–2023

16

Publications

16

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

Kornelia Neveling, Lilian A. Martinez-Carrera, Irmgard Hölker et al. · The American Journal of Human Genetics · 2013 · 173 citations · Full text

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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders

Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot et al. · European Journal of Human Genetics · 2016 · 114 citations · Full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia

Maartje Pennings, Meyke Schouten, Judith van Gaalen et al. · European Journal of Human Genetics · 2019 · 91 citations · Full text

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Gaby Schobers, Jolanda Schieving, Helger G. Yntema et al. · Genome Medicine · 2022 · 53 citations · Full text

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Dineke Westra, Meyke Schouten, Bas C. Stunnenberg et al. · Journal of Neuromuscular Diseases · 2019 · 45 citations · Full text

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