Missense variants in < /i>TAF1< //i> and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)

Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aime; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E; Palmer, Elizabeth E; Murray, Lucinda; Leon, Eyby; Diaz, Jullianne; Worgan, Lisa; Mallawaarachchi, Amali; Vogt, Julie; de Munnik, Sonja A; Dreyer, Lauren; Baynam, Gareth; Ewans, Lisa; Stark, Zornitza; Lunke, Sebastian; Goncalves, Ana R; Soares, Gabriela; Oliveira, Jorge; Fassi, Emily; Willing, Marcia; Waugh, Jeff L; Faivre, Laurence; Riviere, Jean-Baptiste; Moutton, Sebastien; Mohammed, Shehla; Payne, Katelyn; Walsh, Laurence; Begtrup, Amber; Sacoto, Maria J; Douglas, Ganka; Alexander, Nora; Buckley, Michael F; Mark, Paul R; Ades, Lesley C; Sandaradura, Sarah A; Lupski, James R; Roscioli, Tony; Agrawal, Pankaj B; Kline, Antonie D; Wang, Kai; Timmers, HT Marc; Lyon, Gholson J

doi:10.1002/humu.24003

Missense variants in < /i>TAF1< //i> and developmental phenotypes: Challenges of determining pathogenicity (vol 41, pg 449, 2020)

Author:

Cheng, Hanyin

Capponi, Simona ; Wakeling, Emma ; Marchi, Elaine ; Li, Quan ; Zhao, Mengge ; Weng, Chunhua ; Stefan, Piatek G ; Ahlfors, Helena ; Kleyner, Robert ; Rope, Alan ; Lumaka, Aime ; Lukusa, Prosper ; Devriendt, Koenraad ; Vermeesch, Joris ; Posey, Jennifer E ; Palmer, Elizabeth E ; Murray, Lucinda ; Leon, Eyby ; Diaz, Jullianne ; Worgan, Lisa ; Mallawaarachchi, Amali ; Vogt, Julie ; de Munnik, Sonja A ; Dreyer, Lauren ; Baynam, Gareth ; Ewans, Lisa ; Stark, Zornitza ; Lunke, Sebastian ; Goncalves, Ana R ; Soares, Gabriela ; Oliveira, Jorge ; Fassi, Emily ; Willing, Marcia ; Waugh, Jeff L ; Faivre, Laurence ; Riviere, Jean-Baptiste ; Moutton, Sebastien ; Mohammed, Shehla ; Payne, Katelyn ; Walsh, Laurence ; Begtrup, Amber ; Sacoto, Maria J ; Douglas, Ganka ; Alexander, Nora ; Buckley, Michael F ; Mark, Paul R ; Ades, Lesley C ; Sandaradura, Sarah A ; Lupski, James R ; Roscioli, Tony ; Agrawal, Pankaj B ; Kline, Antonie D ; Wang, Kai ; Timmers, HT Marc ; Lyon, Gholson J

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences