Morag N. Collinson

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities

Erin B. Kaminsky, Vineith Kaul, Justin Paschall et al. · Genetics in Medicine · 2011 · 444 citations · Full text

Intellectual Impairment, Psychiatry, Genetic Disorder +6

Mosaic Turner syndrome shows reduced penetrance in an adult population study

Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood et al. · Genetics in Medicine · 2018 · 133 citations · Full text

15q overgrowth syndrome: A newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q

Katrina Tatton‐Brown, Daniela T. Pilz, Karen Helene Ørstavik et al. · American Journal of Medical Genetics Part A · 2009 · 128 citations

Human Growth, Cytogenetics, Genetics +18

Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.

John Barber, Christine A Joyce, Morag N. Collinson et al. · Journal of Medical Genetics · 1998 · 124 citations · Full text

Family Members, Cytogenetics, Genetics +16

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes et al. · The American Journal of Human Genetics · 2019 · 97 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Heterozygous Variants +8