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

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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

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

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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

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

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Biallelic Loss-of-Function Variants in IBICD1/I Are Associated with Peripheral Neuropathy and Hearing Loss by 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

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

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