Publications by authors named "Josef Ekstein"

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ARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Rachel Rabin, Yoel Hirsch, Kevin T A Booth, Patricia L Hall, Naomi Yachelevich, Josef Ekstein

Am J Med Genet A· March 2025

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Biallelic Loss-of-Function Variants in Are Associated with Peripheral Neuropathy and Hearing Loss.
Yoel Hirsch, Wendy K Chung, Sergey Novoselov, Louis H Weimer, Alexander Rossor, Josef Ekstein

Int J Mol Sci· May 2023

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Expanding the phenotypic spectrum of COLEC10-Related 3MC syndrome: A glimpse into COLEC10-Related 3MC syndrome in the Ashkenazi Jewish population.
Rachel Rabin, Yoel Hirsch, Wendy K Chung, Josef Ekstein, Ephrat Levy-Lahad

Am J Med Genet A· October 2022

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Biallelic variants of cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality.
Rajiv D Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, Josef Ekstein

J Med Genet· September 2022

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Identification of Novel and Recurrent Variants in in Ashkenazi Jewish Patients With Autosomal Recessive Nonsyndromic Hearing Loss.
Kevin T Booth, Yoel Hirsch, Anna C Vardaro, Josef Ekstein, Devorah Yefet

Front Genet· October 2021

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Further Delineation of the Clinical and Pathologic Features of HIKESHI-Related Hypomyelinating Leukodystrophy.
Guy Helman, Ayelet Zerem, Akshata Almad, Julia L Hacker, Sarah Woidill, Josef Ekstein

Pediatr Neurol· August 2021

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Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
David A Zeevi, Wendy K Chung, Chaim Levi, Sholem Y Scher, Rachel Bringer, Ahron Ekstein, Josef Ekstein

Mol Genet Genomic Med· August 2021

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A synonymous variant in MYO15A enriched in the Ashkenazi Jewish population causes autosomal recessive hearing loss due to abnormal splicing.
Yoel Hirsch, Chayada Tangshewinsirikul, Kevin T Booth, Hela Azaiez, Devorah Yefet, Josef Ekstein

Eur J Hum Genet· June 2021

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A founder deletion in the gene associated with congenital stationary night blindness and myopia is highly prevalent in Ashkenazi Jews.
Yoel Hirsch, David A Zeevi, Byron L Lam, Sholem Y Scher, Rachel Bringer, Josef Ekstein

Hum Genome Var· September 2019

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Founder Ashkenazi Jewish mutations of large deletion in the inherited retinal dystrophy genes.
John Pei-Wen Chiang, Hongyu Luo, Jie Duan, Josef Ekstein, Yoel Hirsch

Ophthalmic Genet· June 2018

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Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, José Gurrola, Josef Ekstein

Am J Hum Genet· October 2014

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High-throughput carrier screening using TaqMan allelic discrimination.
Anastasia Fedick, Jing Su, Chaim Jalas, Lesley Northrop, Batsal Devkota, Josef Ekstein

PLoS One· January 2014

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Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.
Daniel Flint, Rong Li, Lital S Webster, Sakkubai Naidu, Edwin Kolodny, Josef Ekstein

Hum Mutat· July 2012

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ABCC8 mutation allele frequency in the Ashkenazi Jewish population and risk of focal hyperinsulinemic hypoglycemia.
Benjamin Glaser, Ilana Blech, Yocheved Krakinovsky, Josef Ekstein, David Gillis

Genet Med· October 2011

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A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.
Chaim Jalas, Sylvia L Anderson, Tova Laufer, Kristina Martimucci, Alex Bulanov, Josef Ekstein

Blood Cells Mol Dis· June 2011

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Premarital and prenatal screening for cystic fibrosis: experience in the Ashkenazi Jewish population.
Ruth Kornreich, Josef Ekstein, Lisa Edelmann, Robert J Desnick

Genet Med· February 2005

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Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.
Sylvia L Anderson, Josef Ekstein, Mary C Donnelly, Erin M Keefe, Nicole R Toto

Hum Genet· August 2004

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Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Josef Ekstein, Berish Y Rubin, Sylvia L Anderson, David A Weinstein, Gideon Bach

Am J Med Genet A· August 2004

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The rabbi's dilemma. [Interview by Alison George].
Josef Ekstein

New Sci· June 2004

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Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.
Neil Risch, Hua Tang, Howard Katzenstein, Josef Ekstein

Am J Hum Genet· April 2003

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