Hannah Verdin

A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger et al. · The American Journal of Human Genetics · 2016 · 104 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi Yan, Justine Rousseau, Keren Machol et al. · Science Advances · 2020 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Microhomology-Mediated Mechanisms Underlie Non-Recurrent Disease-Causing Microdeletions of the FOXL2 Gene or Its Regulatory Domain

Hannah Verdin, Barbara D′haene, Diane Beysen et al. · PLoS Genetics · 2013 · 92 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations

Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele et al. · Genetics in Medicine · 2017 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

Frauke Coppieters, Kristof Van Schil, Miriam Bauwens et al. · Genetics in Medicine · 2014 · 58 citations · Full text

Medicine, Genetics, Molecular Genetics +17