1. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Stefan, Piatek G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity. Issue 2 (25th November 2019) Authors: Cheng, Hanyin; Capponi, Simona; Wakeling, Emma; Marchi, Elaine; Li, Quan; Zhao, Mengge; Weng, Chunhua; Piatek, Stefan G.; Ahlfors, Helena; Kleyner, Robert; Rope, Alan; Lumaka, Aimé; Lukusa, Prosper; Devriendt, Koenraad; Vermeesch, Joris; Posey, Jennifer E.; Palmer, Elizabeth E.; Murray, Lucinda; ... Other Names: investigator. Journal: Human mutation Issue: Volume 41:Issue 2(2020) Page Start: 449 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (1st May 2019) Authors: Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann... Journal: Human molecular genetics Issue: Volume 28:Number 17(2019) Page Start: 2900 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15. (6th February 2020) Authors: Cheng, Hanyin; Gottlieb, Leah; Marchi, Elaine; Kleyner, Robert; Bhardwaj, Puja; Rope, Alan F; Rosenheck, Sarah; Moutton, Sébastien; Philippe, Christophe; Eyaid, Wafaa; Alkuraya, Fowzan S; Toribio, Janet; Mena, Rafael; Prada, Carlos E; Stessman, Holly; Bernier, Raphael; Wermuth, Marieke; Kauffmann... Journal: Human molecular genetics Issue: Volume 29:Number 5(2020) Page Start: 877 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗