Concepedia

Veerle Rc Eggens

VR

Statistics

Publications

4

Citations

700

H-Index

4

Active since

2010

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University Hospital Southampton NHS Foundation Trust

University of Amsterdam

Howard Hughes Medical Institute

University of California San Diego

Veerle Rc Eggens is an author at Amsterdam UMC Location University of Amsterdam specializing in neurogenetic disorders, life sciences, and genetics.

Publications per year

2010–2017

4

Publications

4

CLP1 Founder Mutation Links tRNA Splicing and Maturation to Cerebellar Development and Neurodegeneration

Ashleigh E. Schaffer, Veerle Rc Eggens, Ahmet Okay Çağlayan et al. · Cell · 2014 · 283 citations · Full text

, , +17

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 223 citations · Full text

, , +11

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

Rea M. Lardelli, Ashleigh E. Schaffer, Veerle Rc Eggens et al. · Nature Genetics · 2017 · 104 citations · Full text

, , +8

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations

Veerle Rc Eggens, P. G. Barth, Jikke-Mien F. Niermeijer et al. · Orphanet Journal of Rare Diseases · 2014 · 90 citations · Full text

, , +17

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