Concepedia

Emilia K. Bijlsma

EK

Statistics

Publications

14

Citations

800

H-Index

13

Active since

2012

Affiliations

Leiden University Medical Center(Current)

Maastricht University

University of British Columbia

Inserm

Centre National de la Recherche Scientifique

Emilia K. Bijlsma is an author at Leiden University Medical Center specializing in life sciences, genetics, and molecular genetics.

Publications per year

2012–2023

14

Publications

14

Length of Uninterrupted CAG, Independent of Polyglutamine Size, Results in Increased Somatic Instability, Hastening Onset of Huntington Disease

Galen E.B. Wright, Jennifer A. Collins, Chris Kay et al. · The American Journal of Human Genetics · 2019 · 209 citations · Full text

, , +10

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome

Josephina Meester, Laura Southgate, Anna‐Barbara Stittrich et al. · The American Journal of Human Genetics · 2015 · 91 citations · Full text

, , +9

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease

Alicia Semaka, Chris Kay, Crystal N. Doty et al. · Journal of Medical Genetics · 2013 · 88 citations

, , +14

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

Heather E. Olson, Nolwenn Jean‐Marçais, Edward Yang et al. · The American Journal of Human Genetics · 2018 · 78 citations · Full text

, , +16

Dynamin 2 homozygous mutation in humans with a lethal congenital syndrome

Olga S. Koutsopoulos, Christine Kretz, Claudia M Weller et al. · European Journal of Human Genetics · 2012 · 65 citations · Full text

, , +13

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