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Yoel Hirsch
ORCID:
0000-0002-1218-1385
Observed ORCID:
0000-0002-1218-1385
OpenAlex ID:
A5022931939
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel
2019
·
Jun Shen
, Andrea M. Oza
, et al.
·
Genetics in Medicine
·
106
PDF
USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis
2018
·
Emanuele Barca
, Rebecca D Ganetzky
, et al.
·
Human Molecular Genetics
·
59
Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia
2019
·
Lynn M. Boyden
, Lihi Atzmony
, et al.
·
The American Journal of Human Genetics
·
37
PDF
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality
2021
·
Rajiv D Machado
, Carrie L Welch
, et al.
·
Journal of Medical Genetics
·
35
PDF
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
2021
·
Elodie M. Richard
, Somayeh Bakhtiari
, et al.
·
The American Journal of Human Genetics
·
33
PDF
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities
2020
·
Alison M. Muir
, Jennifer L. Cohen
, et al.
·
The American Journal of Human Genetics
·
31
PDF
A newly identified mutation in the PEX26 gene is associated with a milder form of Zellweger spectrum disorder
2018
·
Akemi J. Tanaka
, Kanji Okumoto
, et al.
·
Molecular Case Studies
·
22
PDF
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases
2019
·
Rachel Rabin
, Yoel Hirsch
, et al.
·
American Journal of Medical Genetics Part A
·
21
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
2021
·
Ryan K. Thorpe
, Hela Azaiez
, et al.
·
Human Genetics
·
20
VAC14 syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation
2019
·
Gholson J. Lyon
, Elaine Marchi
, et al.
·
Molecular Case Studies
·
16
PDF
A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing
2021
·
Yoel Hirsch
, Chayada Tangshewinsirikul
, et al.
·
European Journal of Human Genetics
·
14
PDF
Severe epileptic encephalopathy associated with compound heterozygosity of THG1L variants in the Ashkenazi Jewish population
2021
·
Rachel Rabin
, Yoel Hirsch
, et al.
·
American Journal of Medical Genetics Part A
·
10
Vici syndrome in Israel: Clinical and molecular insights
2022
·
Odelia Chorin
, Yoel Hirsch
, et al.
·
Frontiers in Genetics
·
9
PDF
Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy
2021
·
Guy Helman
, Ayelet Zerem
, et al.
·
Pediatric Neurology
·
9
Bi‐allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
2021
·
Hagit Daum
, Mythily Ganapathi
, et al.
·
American Journal of Medical Genetics Part A
·
8
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts
2021
·
David A. Zeevi
, Wendy K. Chung
, et al.
·
Molecular Genetics & Genomic Medicine
·
8
A founder deletion in the TRPM1 gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews
2019
·
Yoel Hirsch
, David A. Zeevi
, et al.
·
Human Genome Variation
·
5
PDF
Identification of Novel and Recurrent Variants in MYO15A in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss
2021
·
Kevin T. Booth
, Yoel Hirsch
, et al.
·
Frontiers in Genetics
·
4
PDF
Expanding the phenotypic spectrum of COLEC10‐Related 3MC syndrome: A glimpse into COLEC10‐Related 3MC syndrome in the Ashkenazi Jewish population
2022
·
Rachel Rabin
, Yoel Hirsch
, et al.
·
American Journal of Medical Genetics Part A
·
3
Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes
2017
·
John (Pei-Wen) Chiang
, Hongyu Luo
, et al.
·
Ophthalmic Genetics
·
3
ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry
2024
·
Rachel Rabin
, Yoel Hirsch
, et al.
·
American Journal of Medical Genetics Part A
·
2
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews
2023
·
Rivka Birnbaum
, Shlomit Ezer
, et al.
·
Journal of Medical Genetics
·
2
A multicenter study reveals a novel pathogenic splice-site founder variant in OTOF
2025
·
Zippora Brownstein
, Lara Kamal
, et al.
·
Human Genomics
·
1
PDF
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss
2023
·
Yoel Hirsch
, Wendy K. Chung
, et al.
·
International Journal of Molecular Sciences
·
1
PDF
Homozygous Loss‐of‐Function Variant in SLC20A1 Coding for Ubiquitous Phosphate Transporter PiT1 Is Associated With Multiple Developmental Abnormalities
2026
·
Eugénie Koumakis
, Céline Huber
, et al.
·
Clinical Genetics
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Works count:
29
Citation count:
459
H-index:
11
I10-index:
12
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