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Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.
Shen J, Oza AM, Del Castillo I, Duzkale H, Matsunaga T, Pandya A, Kang HP, Mar-Heyming R, Guha S, Moyer K, Lo C, Kenna M, Alexander JJ, Zhang Y, Hirsch Y, Luo M, Cao Y, Wai Choy K, Cheng YF, Avraham KB, Hu X, Garrido G, Moreno-Pelayo MA, Greinwald J, Zhang K, Zeng Y, Brownstein Z, Basel-Salmon L, Davidov B, Frydman M, Weiden T, Nagan N, Willis A, Hemphill SE, Grant AR, Siegert RK, DiStefano MT, Amr SS, Rehm HL, Abou Tayoun AN; ClinGen Hearing Loss Working Group. Shen J, et al. Among authors: hirsch y. Genet Med. 2019 Nov;21(11):2442-2452. doi: 10.1038/s41436-019-0535-9. Epub 2019 Jun 4. Genet Med. 2019. PMID: 31160754 Free PMC article.
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.
Boyden LM, Atzmony L, Hamilton C, Zhou J, Lim YH, Hu R, Pappas J, Rabin R, Ekstien J, Hirsch Y, Prendiville J, Lifton RP, Ferguson S, Choate KA. Boyden LM, et al. Among authors: hirsch y. Am J Hum Genet. 2019 Nov 7;105(5):1023-1029. doi: 10.1016/j.ajhg.2019.09.021. Epub 2019 Oct 17. Am J Hum Genet. 2019. PMID: 31630788 Free PMC article.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.
Muir AM, Cohen JL, Sheppard SE, Guttipatti P, Lo TY, Weed N, Doherty D, DeMarzo D, Fagerberg CR, Kjærsgaard L, Larsen MJ, Rump P, Löhner K, Hirsch Y, Zeevi DA, Zackai EH, Bhoj E, Song Y, Mefford HC. Muir AM, et al. Among authors: hirsch y. Am J Hum Genet. 2020 May 7;106(5):623-631. doi: 10.1016/j.ajhg.2020.03.009. Epub 2020 Apr 9. Am J Hum Genet. 2020. PMID: 32275884 Free PMC article.
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. 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.
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: hirsch y. 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.
39 results