Grandparental genotyping enhances exome variant interpretation von Daum, Hagit, Mor‐Shaked, Hagar, Ta‐Shma, Asaf, Shaag, Avraham, Silverstein, Shira, Shohat, Mordechai, Elpeleg, Orly, Meiner, Vardiella, Harel, Tamar

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Low prevalence of SCA27B in adult-onset cerebellar ataxia cohort of Jewish ancestry von Halstuk, Orli, Dayan, Roy, Silverstein, Shira, Fellig, Yakov, Saada, Ann, Harel, Tamar, Arkadir, David

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Role of late amniocentesis in the era of modern genomic technologies von Daum, H., Ben David, A., Nadjari, M., Zenvirt, S., Helman, S., Yanai, N., Meiner, V., Yagel, S., Frumkin, A., Shkedi Rafid, S., Silverstein, Shira, Eilat, Avital, Macarov, Michal, Zvi, Naama, Szmulewicz, Adi, Fahham, Duha, Hacohen, Nuphar, Kimchi, Adva, Shaag, Avraham, Gur, Michal, Bar‐Or, Libat

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Complex chromosomal rearrangement in a girl with psychomotor-retardation and a de novo inversion: inv(2)(p15;q24.2) von Granot-Hershkovitz, Einat, Raas-Rothschild, Annick, Frumkin, Ayala, Granot, David, Silverstein, Shira, Abeliovich, Dvorah

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A non-ancestral RPGR missense mutation in families with either recessive or semi-dominant X-linked retinitis pigmentosa von Banin, Eyal, Mizrahi-Meissonnier, Liliana, Neis, Ruhama, Silverstein, Shira, Magyar, István, Abeliovich, Dvorah, Roepman, Ronald, Berger, Wolfgang, Rosenberg, Thomas, Sharon, Dror

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Increased severity over generations of Charcot-Marie-Tooth disease type 1A von Steiner, I., Gotkine, M., Steiner-Birmanns, B., Biran, I., Silverstein, S., Abeliovich, D., Argov, Z., Wirguin, I.

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A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females von Rösler, A, Silverstein, S, Abeliovich, D

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Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: risk estimate von Silverstein, Shira, Lerer, Israela, Sagi, Michal, Frumkin, Ayala, Ben-Neriah, Ziva, Abeliovich, Dvorah

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A patient with Prader–Willi syndrome and a supernumerary marker chromosome r(15)(q11.1‐13p11.1)pat and maternal heterodisomy von Werner, Marion, Ben‐Neriah, Ziva, silverstein, Shira, Lerer, Israela, Dagan, Yudith, Abeliovich, Dvorah

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The 28-kb Deletion Spanning D15S63 Is a Polymorphic Variant in the Ashkenazi Jewish Population von Silverstein, Shira, Lerer, Israela, Buiting, Karin, Abeliovich, Dvorah

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Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter-community variation and founder premutations von Segel, Reeval, Silverstein, Shira, Lerer, Israela, Kahana, Esther, Meir, Rachel, Sagi, Michal, Zilber, Nelly, Korczyn, Amos D., Shapira, Yehuda, Argov, Zohar, Abeliovich, Dvorah

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Familial café au lait spots: a variant of neurofibromatosis type 1 von Abeliovich, D, Gelman-Kohan, Z, Silverstein, S, Lerer, I, Chemke, J, Merin, S, Zlotogora, J

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A patient with Prader-Willi syndrome and a supernumerary marker chromosome r(15)(q11.1-13p11.1)pat and maternal heterodisomy von Werner, Marion, Ben-Neriah, Ziva, silverstein, Shira, Lerer, Israela, Dagan, Yudith, Abeliovich, Dvorah

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