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Nienke van der Stoep

Pennsylvania State University · US
Area of research
Immunology · Oncology
Research interest
Research interests include Biology, Genetics, Genome-wide association study, Single-nucleotide polymorphism, Melanoma, and Computational biology.
h-index
citations
592
works
8
NIH funding
primary concept
email

Recent publications

Autosomal dominant <i>in cis</i> D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy
Brain 2023cited by 15position: middledoi
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain
Journal of Medical Genetics 2019cited by 40position: middledoi
Intronic <i>SMCHD1</i> variants in FSHD: testing the potential for CRISPR-Cas9 genome editing
Journal of Medical Genetics 2019cited by 33position: middledoi
Publisher Correction: Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Nature Communications 2019cited by 3position: middledoi
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
Nature Communications 2018cited by 119position: middledoi
Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
bioRxiv (Cold Spring Harbor Laboratory) 2017cited by 6position: middledoi
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma
Nature Genetics 2015cited by 244position: middledoi
A variant in FTO shows association with melanoma risk not due to BMI
Nature Genetics 2013cited by 132position: middledoi

Grants

No grants ingested yet.

Frequent collaborators

· 3 papers (2019–2023)Richard J.L.F. Lemmers · University of Rochester Medical Center3 papers (2019–2023)Rabi Tawil · University of Rochester Medical Center3 papers (2019–2023)Silvère M. van der Maarel · Center for Human Genetics3 papers (2019–2023)Teresinha Evangelista · Newcastle University2 papers (2019–2023)Sabrina Sacconi · Ludwig-Maximilians-Universität München2 papers (2019–2019)Baziel G.M. van Engelen · Radboud Institute for Molecular Life Sciences2 papers (2019–2023)Nicol C. Voermans · Radboud University Nijmegen2 papers (2019–2023)Katherine Johnson · University of Chicago1 papers (2019–2019)Volker Straub · ZHAW Zurich University of Applied Sciences1 papers (2019–2019) · 1 papers (2019–2019) · 1 papers (2019–2019) · 1 papers (2023–2023) · 1 papers (2019–2019)Robert B. Weiss · University of Utah1 papers (2023–2023)Corrie E. Erasmus · Radboud University Nijmegen1 papers (2023–2023)Alessandra Ferlini · University of Ferrara1 papers (2019–2019)Meindert H. Lamers · Leiden University Medical Center1 papers (2019–2019) · 1 papers (2019–2019)Steven A. Moore · University of Iowa1 papers (2019–2019)