Search Results - "Weiden, Tzvi"

Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant? by Daum, Hagit, Meiner, Vardiella, Michaelson-Cohen, Rachel, Sukenik-Halevy, Rivka, Zalcberg, Michal Levy, Bar-Ziv, Anat, Weiden, A Tzvi, Scher, Sholem Y, Shohat, Mordechai, Zlotogora, Joël

“…The founder variant DHCR7:c.964-1G>C causing autosomal recessive Smith-Lemli-Opitz (SLOS) was introduced into the Israeli preconception carrier program for…”
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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing by Hirsch, Yoel, Tangshewinsirikul, Chayada, Booth, Kevin T, Azaiez, Hela, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Brownstein, Zippora, Macarov, Michal, Davidov, Bella, Pappas, John, Rabin, Rachel, Kenna, Margaret A, Oza, Andrea M, Lafferty, Katherine, Amr, Sami S, Rehm, Heidi L, Kolbe, Diana L, Frees, Kathy, Nishimura, Carla, Luo, Minjie, Farra, Chantal, Morton, Cynthia C, Scher, Sholem Y, Ekstein, Josef, Avraham, Karen B, Smith, Richard J H, Shen, Jun

“…Nonsyndromic hearing loss is genetically heterogeneous. Despite comprehensive genetic testing, many cases remain unsolved because the clinical significance of…”
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Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss by Booth, Kevin T, Hirsch, Yoel, Vardaro, Anna C, Ekstein, Josef, Yefet, Devorah, Quint, Adina, Weiden, Tzvi, Corey, David P

“…Hearing loss is a genetically and phenotypically heterogeneous disorder. The purpose of this study was to determine the genetic cause underlying hearing loss…”
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Multidimensional analysis and therapeutic development using patient iPSC-derived disease models of Wolfram syndrome by 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

“…Wolfram syndrome is a rare genetic disorder largely caused by pathogenic variants in the WFS1 gene and manifested by diabetes mellitus, optic nerve atrophy,…”
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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts by 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

“…Background There is a paucity of information available regarding the carrier frequency for autosomal recessive pathogenic variants among Syrian Jews. This…”
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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel by 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, Wai Choy, Kwong, 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., Abou Tayoun, Ahmad N.

“…Purpose Pathogenic variants in GJB2 are the most common cause of autosomal recessive sensorineural hearing loss. The classification of c.101T>C/p.Met34Thr and…”
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eP264: Genotype-phenotype correlation analysis and therapeutic development using a patient stem cell-derived disease model of Wolfram syndrome by Urano, Fumihiko, Kitamura, Rie Asada, Maxwell, Kristina, Ye, Wenjuan, Kries, Kelly, Brown, Cris, Augsornworawat, Punn, Johansson, Martin, Cohen, Joshua, Klee, Justin, Leslie, Kent, Simeonov, Anton, Hirsch, Joel, Weiden, Tzvi, Henderson, Mark, Millman, Jeffrey, Ekstein, Josef

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