Angela Bahr

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 185 citations · Full text

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies

Amit K. Tiwari, Angela Bahr, Luzy Bähr et al. · Scientific Reports · 2016 · 73 citations · Full text

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun et al. · Molecular Psychiatry · 2020 · 67 citations · Full text

Setd1a Haploinsufficiency, Developmental Biology, Genetic Disorder +11

The evolution of MHC diversity: Evidence of intralocus gene conversion and recombination in a single-locus system

Angela Bahr, Anthony B. Wilson · Gene · 2012 · 46 citations

Immunogenetics, Medicine, Genetics +12

Biallelic Mutations in<i>CRB1</i>Underlie Autosomal Recessive Familial Foveal Retinoschisis

Ajoy Vincent, Judith Ng, Christina Gerth‐Kahlert et al. · Investigative Ophthalmology & Visual Science · 2016 · 44 citations · Full text