Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss

por Booth, Kevin T., Hirsch, Yoel, Vardaro, Anna C., Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P.
Publicado 2021

A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder

por Tanaka, Akemi J., Okumoto, Kanji, Tamura, Shigehiko, Abe, Yuichi, Hirsch, Yoel, Deng, Liyong, Ekstein, Joseph, Chung, Wendy K., Fujiki, Yukio
Publicado 2019

Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts

por Zeevi, David A., Chung, Wendy K., Levi, Chaim, Scher, Sholem Y., Bringer, Rachel, Kahan, Yael, Muallem, Hagit, Benel, Rinat, Hirsch, Yoel, Weiden, Tzvi, Ekstein, Ahron, Ekstein, Josef
Publicado 2021

A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews

por Hirsch, Yoel, Zeevi, David A., Lam, Byron L., Scher, Sholem Y., Bringer, Rachel, Cherki, Bitya, Cohen, Cadina C., Muallem, Hagit, Chiang, John (Pei-Wen), Pantrangi, Madhulatha, Ekstein, Josef, Johansson, Martin M.
Publicado 2019

VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation

por Lyon, Gholson J., Marchi, Elaine, Ekstein, Joseph, Meiner, Vardiella, Hirsch, Yoel, Scher, Sholem, Yang, Edward, De Vivo, Darryl C., Madrid, Ricardo, Li, Quan, Wang, Kai, Haworth, Andrea, Chilton, Ilana, Chung, Wendy K., Velinov, Milen
Publicado 2019

Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss

por Hirsch, Yoel, Chung, Wendy K., Novoselov, Sergey, Weimer, Louis H., Rossor, Alexander, LeDuc, Charles A., McPartland, Amanda J., Cabrera, Ernesto, Ekstein, Josef, Scher, Sholem, Nelson, Rick F., Schiavo, Giampietro, Henderson, Lindsay B., Booth, Kevin T. A.
Publicado 2023

Multidimensional analysis and therapeutic development using patient iPSC–derived disease models of Wolfram syndrome

por Kitamura, Rie Asada, Maxwell, Kristina G., Ye, Wenjuan, Kries, Kelly, Brown, Cris M., Augsornworawat, Punn, Hirsch, Yoel, Johansson, Martin M., Weiden, Tzvi, Ekstein, Joseph, Cohen, Joshua, Klee, Justin, Leslie, Kent, Simeonov, Anton, Henderson, Mark J., Millman, Jeffrey R., Urano, Fumihiko
Publicado 2022

Vici syndrome in Israel: Clinical and molecular insights

por Chorin, Odelia, Hirsch, Yoel, Rock, Rachel, Salzer Sheelo, Liat, Goldberg, Yael, Mandel, Hanna, Hershkovitz, Tova, Fleischer, Nicole, Greenbaum, Lior, Katz, Uriel, Barel, Ortal, Hamed, Nasrin, Ben-Zeev, Bruria, Greenberger, Shoshana, Nasser Samra, Nadra, Stern Zimmer, Michal, Raas-Rothschild, Annick, Pode-Shakked, Ben
Publicado 2022

Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality

por Machado, Rajiv D, Welch, Carrie L, Haimel, Matthias, Bleda, Marta, Colglazier, Elizabeth, Coulson, John D, Debeljak, Marusa, Ekstein, Josef, Fineman, Jeffrey R, Golden, William Christopher, Griffin, Emily L, Hadinnapola, Charaka, Harris, Michael A, Hirsch, Yoel, Hoover-Fong, Julie Elizabeth, Nogee, Lawrence, Romer, Lewis H, Vesel, Samo, Gräf, Stefan, Morrell, Nicholas W, Southgate, Laura, Chung, Wendy K
Publicado 2022

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