Ekstein J - Search Results

1

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

Hirsch Y, Zeevi DA, Lam BL, Scher SY, Bringer R, Cherki B, Cohen CC, Muallem H, Chiang JP, Pantrangi M, Ekstein J, Johansson MM. Hirsch Y, et al. Among authors: ekstein j. Hum Genome Var. 2019 Sep 12;6:45. doi: 10.1038/s41439-019-0076-4. eCollection 2019. Hum Genome Var. 2019. PMID: 31645983 Free PMC article.

2

Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.

Chiang JP, Luo H, Duan J, Ekstein J, Hirsch Y. Chiang JP, et al. Among authors: ekstein j. Ophthalmic Genet. 2018 Jan-Feb;39(1):135-136. doi: 10.1080/13816810.2017.1318928. Epub 2017 Jul 20. Ophthalmic Genet. 2018. PMID: 28726569 No abstract available.

3

A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.

Hirsch Y, Tangshewinsirikul C, Booth KT, Azaiez H, Yefet D, Quint A, Weiden T, Brownstein Z, Macarov M, Davidov B, Pappas J, Rabin R, Kenna MA, Oza AM, Lafferty K, Amr SS, Rehm HL, Kolbe DL, Frees K, Nishimura C, Luo M, Farra C, Morton CC, Scher SY, Ekstein J, Avraham KB, Smith RJH, Shen J. Hirsch Y, et al. Among authors: ekstein j. Eur J Hum Genet. 2021 Jun;29(6):988-997. doi: 10.1038/s41431-020-00790-w. Epub 2021 Jan 4. Eur J Hum Genet. 2021. PMID: 33398081 Free PMC article.

4

Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.

Helman G, Zerem A, Almad A, Hacker JL, Woidill S, Sase S, LeFevre AN, Ekstein J, Johansson MM, Stutterd CA, Taft RJ, Simons C, Grinspan JB, Pizzino A, Schmidt JL, Harding B, Hirsch Y, Viaene AN, Fattal-Valevski A, Vanderver A. Helman G, et al. Among authors: ekstein j. Pediatr Neurol. 2021 Aug;121:11-19. doi: 10.1016/j.pediatrneurol.2021.04.014. Epub 2021 May 14. Pediatr Neurol. 2021. PMID: 34111619 Free PMC article.

5

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

Zeevi DA, Chung WK, Levi C, Scher SY, Bringer R, Kahan Y, Muallem H, Benel R, Hirsch Y, Weiden T, Ekstein A, Ekstein J. Zeevi DA, et al. Among authors: ekstein j. Mol Genet Genomic Med. 2021 Aug;9(8):e1756. doi: 10.1002/mgg3.1756. Epub 2021 Jul 20. Mol Genet Genomic Med. 2021. PMID: 34288589 Free PMC article.

6

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

Machado RD, Welch CL, Haimel M, Bleda M, Colglazier E, Coulson JD, Debeljak M, Ekstein J, Fineman JR, Golden WC, Griffin EL, Hadinnapola C, Harris MA, Hirsch Y, Hoover-Fong JE, Nogee L, Romer LH, Vesel S; NIHR Bioresource – Rare Diseases; Gräf S, Morrell NW, Southgate L, Chung WK. Machado RD, et al. Among authors: ekstein j. J Med Genet. 2022 Sep;59(9):906-911. doi: 10.1136/jmedgenet-2021-107831. Epub 2021 Sep 7. J Med Genet. 2022. PMID: 34493544 Free PMC article.

7

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

Booth KT, Hirsch Y, Vardaro AC, Ekstein J, Yefet D, Quint A, Weiden T, Corey DP. Booth KT, et al. Among authors: ekstein j. Front Genet. 2021 Oct 18;12:737782. doi: 10.3389/fgene.2021.737782. eCollection 2021. Front Genet. 2021. PMID: 34733312 Free PMC article.

8

Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.

Rabin R, Hirsch Y, Chung WK, Ekstein J, Levy-Lahad E, Zuckerman S, Mor-Shaked H, Meiner V, Booth KT, Pappas J. Rabin R, et al. Among authors: ekstein j. Am J Med Genet A. 2022 Oct;188(10):3110-3117. doi: 10.1002/ajmg.a.62943. Epub 2022 Aug 9. Am J Med Genet A. 2022. PMID: 35943032

9

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

Hirsch Y, Chung WK, Novoselov S, Weimer LH, Rossor A, LeDuc CA, McPartland AJ, Cabrera E, Ekstein J, Scher S, Nelson RF, Schiavo G, Henderson LB, Booth KTA. Hirsch Y, et al. Among authors: ekstein j. Int J Mol Sci. 2023 May 17;24(10):8897. doi: 10.3390/ijms24108897. Int J Mol Sci. 2023. PMID: 37240244 Free PMC article.

10

Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.

Ekstein J, Rubin BY, Anderson SL, Weinstein DA, Bach G, Abeliovich D, Webb M, Risch N. Ekstein J, et al. Am J Med Genet A. 2004 Aug 30;129A(2):162-4. doi: 10.1002/ajmg.a.30232. Am J Med Genet A. 2004. PMID: 15316959

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