Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: USH2A: 6628C>T; Pro2210Ser
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14
Variant appearance in text: USH2A: P2210S; rs192115090
Complementary Sequential Circulating Tumor Cell (CTC) and Cell-Free Tumor DNA (ctDNA) Profiling Reveals Metastatic Heterogeneity and Genomic Changes in Lung Cancer and Breast Cancer.
Frontiers In Oncology
Kong, Say Li SL; Liu, Xingliang X; Tan, Swee Jin SJ; Tai, Joyce A JA; Phua, Ler Yee LY; Poh, Huay Mei HM; Yeo, Trifanny T; Chua, Yong Wei YW; Haw, Yu Xuan YX; Ling, Wen Huan WH; Ng, Raymond Chee Hui RCH; Tan, Tira J TJ; Loh, Kiley Wei Jen KWJ; Tan, Daniel Shao-Weng DS; Ng, Quan Sing QS; Ang, Mei Kim MK; Toh, Chee Keong CK; Lee, Yi Fang YF; Lim, Chwee Teck CT; Lim, Tony Kiat Hon TKH; Hillmer, Axel M AM; Yap, Yoon Sim YS; Lim, Wan-Teck WT