Colleen Macmurdo

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 276 citations · Full text

Medicine, Molecular Genetics, Pediatrics +17

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani et al. · The American Journal of Human Genetics · 2015 · 143 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir et al. · American Journal of Medical Genetics Part A · 2016 · 106 citations

Medicine, Genetics, Molecular Medicine +17

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

Paldeep S. Atwal, Colleen Macmurdo, Paul C. Grimm · Molecular Genetics and Metabolism Reports · 2015 · 14 citations · Full text

Medicine, Nephrology, Nutritional Sciences +11

Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh et al. · Annals of Neurology · 2024 · 10 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17