Madhura Bakshi

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

Céline Helsmoortel, Anneke T. Vulto-van Silfhout, Bradley P. Coe et al. · Nature Genetics · 2014 · 369 citations · Full text

Neurodevelopmental Disorders, Syndromic Autism, Genetic Disorder +9

International Registry of Patients Carrying <i>TGFBR1</i> or <i>TGFBR2</i> Mutations

Guillaume Jondeau, Jacques Ropers, Ellen S. Regalado et al. · Circulation Cardiovascular Genetics · 2016 · 192 citations · Full text

Congenital Titinopathy: Comprehensive characterization and pathogenic insights

Emily C. Oates, Kristi Jones, Sandra Donkervoort et al. · Annals of Neurology · 2018 · 152 citations · Full text

Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Edwin P. Kirk, Royston Ong, Kirsten Boggs et al. · European Journal of Human Genetics · 2020 · 109 citations · Full text

Biology, Genetic Testing, Gene Selection +15

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text