Another case of nuclear speckleopathy due to a novel NKAP pathogenic variant

- Goel, Himanshu, O'Donnell, Sheridan, Roscioli, Tony, Hart, Francesca

Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant

- 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

Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability

- 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

Biallelic mutations in MTPAP associated with a lethal encephalopathy

- 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.