Concepedia

Veerle Rc Eggens

VR

Statistics

Publications

4

Citations

689

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 molecular genetics, biology, and genetics.

Top concepts

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 · 280 citations · Full text

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

Yasmin Namavar, P. G. Barth, Paul R. Kasher et al. · Brain · 2010 · 222 citations · Full text

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 · 99 citations · Full text

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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 · 88 citations · Full text

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