Marc Wegener

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

Jessica X. Chong, Margaret J. McMillin, Kathryn M. Shively et al. · The American Journal of Human Genetics · 2015 · 157 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder

Gali Heimer, Juha M. Kerätär, Lisa G. Riley et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3

Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck et al. · The American Journal of Human Genetics · 2015 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

ARID1A Mutations Promote P300-Dependent Endometrial Invasion through Super-Enhancer Hyperacetylation

Mike R. Wilson, Jake J. Reske, Jeanne Holladay et al. · Cell Reports · 2020 · 64 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population

Mohsin Shahzad, Sairah Yousaf, Yar Muhammad Waryah et al. · Scientific Reports · 2017 · 34 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15