Evaluating the impact of in silico predictors on clinical variant classification
Wilcox, Emma H., Sarmady, Mahdi, Wulf, Bryan, Wright, Matt W., Rehm, Heidi L., Biesecker, Leslie G., Abou Tayoun, Ahmad N.
Published in Genetics in medicine (01.04.2022)
Published in Genetics in medicine (01.04.2022)
Get full text
Journal Article
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels
Riggs, Erin Rooney, Bingaman, Taylor I., Barry, Carrie-Ann, Behlmann, Andrea, Bluske, Krista, Bostwick, Bret, Bright, Alison, Chen, Chun-An, Clause, Amanda R., Dharmadhikari, Avinash V., Ganapathi, Mythily, Gonzaga-Jauregui, Claudia, Grant, Andrew R., Hughes, Madeline Y., Kim, Se Rin, Krause, Amanda, Liao, Jun, Lumaka, Aimé, Mah, Michelle, Maloney, Caitlin M., Mohan, Shruthi, Osei-Owusu, Ikeoluwa A., Reble, Emma, Rennie, Olivia, Savatt, Juliann M., Shimelis, Hermela, Siegert, Rebecca K., Sneddon, Tam P., Thaxton, Courtney, Toner, Kelly A., Tran, Kien Trung, Webb, Ryan, Wilcox, Emma H., Yin, Jiani, Zhuo, Xinming, Znidarsic, Masa, Martin, Christa Lese, Betancur, Catalina, Vorstman, Jacob A.S., Miller, David T., Schaaf, Christian P.
Published in Genetics in medicine (01.09.2022)
Published in Genetics in medicine (01.09.2022)
Get full text
Journal Article
Web Resource
Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss
Patel, Mayher J, DiStefano, Marina T, Oza, Andrea M, Hughes, Madeline Y, Wilcox, Emma H, Hemphill, Sarah E, Cushman, Brandon J, Grant, Andrew R, Siegert, Rebecca K, Shen, Jun, Chapin, Alex, Boczek, Nicole J, Schimmenti, Lisa A, Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T, Avraham, Karen B, Kremer, Hannie, Griffith, Andrew J, Rehm, Heidi L, Amr, Sami S, Tayoun, Ahmad N Abou
Published in Genetics in medicine (01.11.2021)
Published in Genetics in medicine (01.11.2021)
Get full text
Journal Article
Influence of water saturation on interlayer properties of HDTMA-, HDTMP-, and HDPy-modified montmorillonite organoclays
Costanza-Robinson, Molly S., Payne, Emory M., Dellinger, Elaine, Fink, Kae, Bunt, Richard C., Littlefield, Malcolm, Mejaes, Barbara A., Morris, Rachael K., Pincus, Lauren N., Wilcox, Emma H.
Published in Applied clay science (01.01.2024)
Published in Applied clay science (01.01.2024)
Get full text
Journal Article
Expert interpretation of genes and variants in hereditary hearing loss
DiStefano, Marina T., Hughes, Madeline Y., Patel, Mayher J., Wilcox, Emma H., Oza, Andrea M.
Published in Medizinische Genetik (26.08.2020)
Published in Medizinische Genetik (26.08.2020)
Get full text
Journal Article