Audrey Schroeder

De Novo Mutations of RERE Cause a Genetic Syndrome with Features that Overlap Those Associated with Proximal 1p36 Deletions

Brieana Fregeau, Bum‐Joon Kim, Andrés Hernández et al. · The American Journal of Human Genetics · 2016 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

A Germline Variant in the PANX1 Gene Has Reduced Channel Function and Is Associated with Multisystem Dysfunction

Qing Shao, Kristin Lindstrom, Ruo‐Yang Shi et al. · Journal of Biological Chemistry · 2016 · 83 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome

Sarah E. Sheppard, Ian M. Campbell, Margaret Harr et al. · American Journal of Medical Genetics Part A · 2021 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

<i>WAC</i> loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome

C.L. DeSanto, Kristin D׳Aco, Gabriel C. Araujo et al. · Journal of Medical Genetics · 2015 · 57 citations

Life Sciences, Genetics, Molecular Genetics +17

Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites

Nicola de Prisco, Caitlin Ford, Nathan D. Elrod et al. · Science Advances · 2023 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16