Shelagh Joss

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Joanna Kaplanis, Kaitlin E. Samocha, Laurens Wiel et al. · Nature · 2020 · 674 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Tarjinder Singh, Mitja Kurki, David Curtis et al. · Nature Neuroscience · 2016 · 476 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

Joseph D. Symonds, Sameer M. Zuberi, Kirsty Stewart et al. · Brain · 2019 · 454 citations · Full text

Medicine, Genetics, Pediatrics +17

<i>RASA1</i>Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revençu, Laurence M. Boon, Antonella Mendola et al. · Human Mutation · 2013 · 292 citations

Medicine, Genetics, Cardiovascular Genetics +14

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14