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
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
- Creator: Dagar, Vinod , Hutchison, Wendy , Muscat, Andrea , Krishnan, Anita , Hoke, David , Buckle, Ashley , Siswara, Priscillia , Amor, David J. , Mann, Jeffrey , Pinner, Jason , Colley, Alison , Wilson, Meredith , Sachdev, Rani , McGillivray, George , Edwards, Matthew , Kirk, Edwin , Collins, Felicity , Jones, Kristi , Taylor, Juliet , Hayes, Ian , Dudding-Byth, Tracey
- Resource Type: journal article
- Date: 2018