Tara Montgomery

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

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

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

Iain McIntosh, Sandra D. Dreyer, Mark V. Clough et al. · The American Journal of Human Genetics · 1998 · 173 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Clinical and molecular characterization of <i>KCNT1</i> -related severe early-onset epilepsy

Amy McTague, Umesh Nair, Sony Malhotra et al. · Neurology · 2017 · 141 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Clinical and genetic aspects of KBG syndrome

Karen Low, Tazeen Ashraf, Natalie Canham et al. · American Journal of Medical Genetics Part A · 2016 · 139 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17