Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

por Sugarman, Elaine A, Nagan, Narasimhan, Zhu, Hui, Akmaev, Viatcheslav R, Zhou, Zhaoqing, Rohlfs, Elizabeth M, Flynn, Kerry, Hendrickson, Brant C, Scholl, Thomas, Sirko-Osadsa, Deborah Alexa, Allitto, Bernice A
Publicado 2012

Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory

por Gardner, Sabrina A., Weymouth, Katelyn S., Kelly, Wei S., Bogdanova, Ekaterina, Chen, Wenjie, Lupu, Daniel, Suhl, Joshua, Zeng, Qiandong, Geigenmüller, Ute, Boles, Debbie, Okamoto, Patricia M., McDowell, Geraldine, Hayden, Melissa A., Nagan, Narasimhan
Publicado 2018

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