Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant
- Creator: Forwood, Caitlin , Ashton, Katie , Katf, Hala , Riveros, Carlos , Hsieh, Tzung-Chien , Krawitz, Peter , Robinson, Peter N. , Dudding-Byth, Tracy , Sadikovic, Bekim , Pinner, Jason , Buckley, Michael F. , Roscioli, Tony , Zhu, Ying , Zhang, Futao , Dias, Kerith-Rae , Standen, Krystle , Evans, Carey-Anne , Carey, Louise , Cardamone, Michael , Shalhoub, Carolyn
- Resource Type: journal article
- Date: 2023
Differences in outcomes between early and late diagnosis of cystic fibrosis in the newborn screening era
- Creator: Coffey, Michael J. , Whitaker, Viola , Ooi, Chee Y. , Gentin, Natalie , Junek, Rosie , Shalhoub, Carolyn , Nightingale, Scott , Hilton, Jodi , Wiley, Veronica , Wilcken, Bridget , Gaskin, Kevin J.
- Resource Type: journal article
- Date: 2017
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort
- Creator: Eggers, Stefanie , Sadedin, Simon , Cameron, Fergus , Werther, George , Hutson, John , O'Connell, Michele , Grover, Sonia R. , Heloury, Yves , Zacharin, Margaret , Bergman, Philip , Kimber, Chris , Brown, Justin , van den Bergen, Jocelyn A. , Webb, Nathalie , Hunter, Matthew F. , Srinivasan, Shubha , Titmuss, Angela , Verge, Charles F. , Mowat, David , Smith, Grahame , Smith, Janine , Ewans, Lisa , Shalhoub, Carolyn , Robevska, Gorjana , Crock, Patricia , Cowell, Chris , Leong, Gary M. , Ono, Makato , Lafferty, Antony R. , Huynh, Tony , Visser, Uma , Choong, Catherine S. , McKenzie, Fiona , Pachter, Nicholas , Ohnesorg, Thomas , Thompson, Elizabeth M. , Couper, Jennifer , Baxendale, Anne , Gecz, Jozef , Wheeler, Benjamin J. , Jefferies, Craig , MacKenzie, Karen , Hofman, Paul , Carter, Philippa , King, Richard I. , Hewitt, Jacqueline , Krausz, Csilla , van Ravenswaaij-Arts, Conny M. A. , Looijenga, Leendert , Drop, Sten , Riedl, Stefan , Cools, Martine , Dawson, Angelika , Juniarto, Achmad Zulfa , Khadilkar, Vaman , Khadilkar, Anuradha , Lambeth, Luke , Bhatia, Vijayalakshmi , Dũng, Vũ Chí , Atta, Irum , Raza, Jamal , thi Diem Chi, Nguyen , Hao, Tran Kiem , Harley, Vincent , Koopman, Peter , Warne, Garry , Faradz, Sultana , Bouty, Aurore , Oshlack, Alicia , Ayers, Katie L. , Sinclair, Andrew H. , Knarston, Ingred M. , Tan, Tiong Yang
- Resource Type: journal article
- Date: 2016