Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant
- Creator: Goel, Himanshu , O'Donnell, Sheridan , Roscioli, Tony , Hart, Francesca
- Resource Type: journal article
- Date: 2024
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
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability
- Creator: Field, Michael J. , Kumar, Raman , Gardner, Alison E. , Sullivan, Patricia , Ha, Thuong T. , Schwartz, Charles E. , Cowley, Mark J. , Dinger, Marcel E. , Palmer, Elizabeth E. , Christie, Louise , Shaw, Marie , Roscioli, Tony , Hackett, Anna , Gecz, Jozef , Corbett, MA , Kayumi, Sayaka , Shoubridge, Cheryl A. , Ewans, Lisa J. , Ivancevic, Atma M. , Dudding-Byth, Tracy , Carroll, Renée , Kroes, Thessa
- Resource Type: journal article
- Date: 2021
Biallelic mutations in MTPAP associated with a lethal encephalopathy
- Creator: Van Eyck, Lien , Bruni, Francesco , Ronan, Anne , Briggs, Tracy A. , Roscioli, Tony , Rice, Gillian I. , Vassallo, Grace , Rodero, Mathieu P. , He, Langping , Taylor, Robert W. , Livingston, John H. , Chrzanowska-Lightowlers, Zofia M. A. , Crow, Yanick J.
- Resource Type: journal article
- Date: 2020