Reclassification of the BRAF p.Ile208Val variant by case-level data sharing

por Grant, Andrew R., Hemphill, Sarah E., Vincent, Lisa M., Rehm, Heidi L.
Publicado 2018

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement

por Niehaus, Annie, Azzariti, Danielle R., Harrison, Steven M., DiStefano, Marina T., Hemphill, Sarah E., Senol-Cosar, Ozlem, Rehm, Heidi L.
Publicado 2019

ClinGen Expert Clinical Validity Curation of 164 Hearing Loss Gene-Disease Pairs

por DiStefano, Marina T., Hemphill, Sarah E., Oza, Andrea M., Siegert, Rebecca K., Grant, Andrew R., Hughes, Madeline Y., Cushman, Brandon J., Azaiez, Hela, Booth, Kevin T., Chapin, Alex, Duzkale, Hatice, Matsunaga, Tatsuo, Shen, Jun, Zhang, Wenying, Kenna, Margaret, Schimmenti, Lisa A., Tekin, Mustafa, Rehm, Heidi L., Tayoun, Ahmad N. Abou, Amr, Sami S.
Publicado 2019

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

por 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
Publicado 2021

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel

por Shen, Jun, Oza, Andrea M., del Castillo, Ignacio, Duzkale, Hatice, Matsunaga, Tatsuo, Pandya, Arti, Kang, Hyunseok P., Mar-Heyming, Rebecca, Guha, Saurav, Moyer, Krista, Lo, Christine, Kenna, Margaret, Alexander, John J., Zhang, Yan, Hirsch, Yoel, Luo, Minjie, Cao, Ye, Choy, Kwong Wai, Cheng, Yen-Fu, Avraham, Karen B., Hu, Xinhua, Garrido, Gema, Moreno-Pelayo, Miguel A., Greinwald, John, Zhang, Kejian, Zeng, Yukun, Brownstein, Zippora, Basel-Salmon, Lina, Davidov, Bella, Frydman, Moshe, Weiden, Tzvi, Nagan, Narasimhan, Willis, Alecia, Hemphill, Sarah E., Grant, Andrew R., Siegert, Rebecca K., DiStefano, Marina T., Amr, Sami S., Rehm, Heidi L., Tayoun, Ahmad N. Abou
Publicado 2019