1. MG-106 Global developmental delay and characteristic facial features associated with pacs1 gene mutation – report of two cases. (4th December 2015) Authors: Chad, Lauren; Chung, Brian HY; Marshall, Christian R; Merico, Daniele; Babul-Hirji, Riyana; Stavropoulos, D James; Chitayat, David Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. MG-108 Agenesis of the corpus callosum and autism associated with zeb1 gene deletion – a case report. (4th December 2015) Authors: Inbar-Feigenberg, Michal; Chung, Brian HY; Marshall, Christian R; Merico, Daniele; Stavropoulos, D James; Chitayat, David Journal: Journal of medical genetics Issue: Volume 52(2015)Supplement 1 Page Start: A2 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability. Issue 5 (28th June 2021) Authors: Tan, Natalie B; Pagnamenta, Alistair T; Ferla, Matteo P; Gadian, Jonathan; Chung, Brian HY; Chan, Marcus CY; Fung, Jasmine LF; Cook, Edwin; Guter, Stephen; Boschann, Felix; Heinen, Andre; Schallner, Jens; Mignot, Cyril; Keren, Boris; Whalen, Sandra; Sarret, Catherine; Mittag, Dana; Demmer, Laurie... Journal: Journal of medical genetics Issue: Volume 59:Issue 5(2022) Page Start: 511 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation. Issue 10 (16th July 2014) Authors: Yeung, KS; Chee, YY; Luk, HM; Kan, Anita SY; Tang, Mary HY; Lau, Elizabeth T; Shuen, Andrew Y; Lo, Ivan FM; Chan, Kelvin YK; Chung, Brian HY Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Spread of X inactivation on chromosome 15 is associated with a more severe phenotype in a girl with an unbalanced t(X; 15) translocation. Issue 10 (16th July 2014) Authors: Yeung, KS; Chee, YY; Luk, HM; Kan, Anita SY; Tang, Mary HY; Lau, Elizabeth T; Shuen, Andrew Y; Lo, Ivan FM; Chan, Kelvin YK; Chung, Brian HY Journal: American journal of medical genetics Issue: Volume 164:Issue 10(2014.) Page Start: 2521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive WNT1 mutations. Issue 6 (15th December 2015) Authors: Aldinger, Kimberly A; Mendelsohn, Nancy J; Chung, Brian HY; Zhang, Wenjuan; Cohn, Daniel H; Fernandez, Bridget; Alkuraya, Fowzan S; Dobyns, William B; Curry, Cynthia J Journal: Journal of medical genetics Issue: Volume 53:Issue 6(2016) Page Start: 427 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗