Concepedia
Statistics
Publications
19
Citations
1.7K
H-Index
16
Active since
2014
Affiliations
Maastricht University(Current)
Radboud University Nijmegen
Radboud University Medical Center
Maastricht University Medical Centre
Radboud Institute for Molecular Life Sciences
Connie T. R. M. Stumpel is an author at Maastricht University specializing in genetics, life sciences, and genetic disorders.
Publications per year
2014–2022
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling
Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 339 citations · Full text
Life Sciences, Genetics, Molecular Genetics +16
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders
Holly A.F. Stessman, Marjolein H. Willemsen, Michaela Fencková et al. · The American Journal of Human Genetics · 2016 · 168 citations · Full text
Life Sciences, Genetics, Molecular Genetics +13
Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder
Tom S. Koemans, Tjitske Kleefstra, Melissa C. Chubak et al. · PLoS Genetics · 2017 · 166 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy
Jae-Ran Lee, Myriam Srour, Doyoun Kim et al. · Human Mutation · 2014 · 159 citations
Life Sciences, Genetics, Neurology +17
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
Michael D. Fountain, Emmelien Aten, Megan T. Cho et al. · Genetics in Medicine · 2016 · 122 citations · Full text
Life Sciences, Genetics, Human Genetics +6
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