Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
6 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
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.
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.
Lyon GJ, Marchi E, Ekstein J, Meiner V, Hirsch Y, Scher S, Yang E, De Vivo DC, Madrid R, Li Q, Wang K, Haworth A, Chilton I, Chung WK, Velinov M.
Lyon GJ, et al.
Cold Spring Harb Mol Case Stud. 2019 Dec 13;5(6):a003715. doi: 10.1101/mcs.a003715. Print 2019 Dec.
Cold Spring Harb Mol Case Stud. 2019.
PMID: 31387860
Free PMC article.
Item in Clipboard
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: scher sy.
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.
Item in Clipboard
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: scher sy.
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.
Item in Clipboard
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.
Int J Mol Sci. 2023 May 17;24(10):8897. doi: 10.3390/ijms24108897.
Int J Mol Sci. 2023.
PMID: 37240244
Free PMC article.
Item in Clipboard
Smith-Lemli-Opitz syndrome: what is the actual risk for couples carriers of the DHCR7:c.964-1G>C variant?
Daum H, Meiner V, Michaelson-Cohen R, Sukenik-Halevy R, Zalcberg ML, Bar-Ziv A, Weiden AT, Scher SY, Shohat M, Zlotogora J.
Daum H, et al. Among authors: scher sy.
Eur J Hum Genet. 2020 Jul;28(7):938-942. doi: 10.1038/s41431-020-0577-0. Epub 2020 Feb 13.
Eur J Hum Genet. 2020.
PMID: 32055014
Free PMC article.
Item in Clipboard
Cite
Cite