Publications by authors named "Yoel Hirsch"

10Publications

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

Authors:
Yoel Hirsch Chayada Tangshewinsirikul Kevin T Booth Hela Azaiez Devorah Yefet Adina Quint Tzvi Weiden Zippora Brownstein Michal Macarov Bella Davidov John Pappas Rachel Rabin Margaret A Kenna Andrea M Oza Katherine Lafferty Sami S Amr Heidi L Rehm Diana L Kolbe Kathy Frees Carla Nishimura Minjie Luo Chantal Farra Cynthia C Morton Sholem Y Scher Josef Ekstein Karen B Avraham Richard J H Smith Jun Shen

Eur J Hum Genet 2021 Jan 4. Epub 2021 Jan 4.

Harvard Medical School Center for Hereditary Deafness, Boston, MA, 02115, USA.

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January 2021

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

Authors:
Alison M Muir Jennifer L Cohen Sarah E Sheppard Pavithran Guttipatti Tsz Y Lo Natalie Weed Dan Doherty Danielle DeMarzo Christina R Fagerberg Lars Kjærsgaard Martin J Larsen Patrick Rump Katharina Löhner Yoel Hirsch David A Zeevi Elaine H Zackai Elizabeth Bhoj Yuanquan Song Heather C Mefford

Am J Hum Genet 2020 05 9;106(5):623-631. Epub 2020 Apr 9.

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA. Electronic address:

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May 2020

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

Authors:
Yoel Hirsch David A Zeevi Byron L Lam Sholem Y Scher Rachel Bringer Bitya Cherki Cadina C Cohen Hagit Muallem John Pei-Wen Chiang Madhulatha Pantrangi Josef Ekstein Martin M Johansson

Hum Genome Var 2019 12;6:45. Epub 2019 Sep 12.

Dor Yeshorim, The Committee for Prevention of Jewish Genetic Diseases, Brooklyn, NY USA.

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September 2019

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

Authors:
Lynn M Boyden Lihi Atzmony Claire Hamilton Jing Zhou Young H Lim Ronghua Hu John Pappas Rachel Rabin Joseph Ekstien Yoel Hirsch Julie Prendiville Richard P Lifton Shawn Ferguson Keith A Choate

Am J Hum Genet 2019 11 17;105(5):1023-1029. Epub 2019 Oct 17.

Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Dermatology, Yale University School of Medicine, New Haven, CT 06510, USA; Department of Pathology, Yale University School of Medicine, New Haven, CT 06510, USA. Electronic address:

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November 2019

syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulation.

Authors:
Gholson J Lyon Elaine Marchi Joseph Ekstein Vardiella Meiner Yoel Hirsch Sholem Scher Edward Yang Darryl C De Vivo Ricardo Madrid Quan Li Kai Wang Andrea Haworth Ilana Chilton Wendy K Chung Milen Velinov

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

NYS Institute for Basic Research in Developmental Disabilities (IBR), Staten Island, New York 10314, USA.

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December 2019

Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.

Authors:
Rachel Rabin Yoel Hirsch Martin M Johansson Joseph Ekstein David A Zeevi Beth Keena Elaine H Zackai John Pappas

Am J Med Genet A 2019 10 9;179(10):2144-2151. Epub 2019 Jul 9.

Clinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, New York.

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October 2019

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Authors:
Jun Shen Andrea M Oza Ignacio Del Castillo Hatice Duzkale Tatsuo Matsunaga Arti Pandya Hyunseok P Kang Rebecca Mar-Heyming Saurav Guha Krista Moyer Christine Lo Margaret Kenna John J Alexander Yan Zhang Yoel Hirsch Minjie Luo Ye Cao Kwong Wai Choy Yen-Fu Cheng Karen B Avraham Xinhua Hu Gema Garrido Miguel A Moreno-Pelayo John Greinwald Kejian Zhang Yukun Zeng Zippora Brownstein Lina Basel-Salmon Bella Davidov Moshe Frydman Tzvi Weiden Narasimhan Nagan Alecia Willis Sarah E Hemphill Andrew R Grant Rebecca K Siegert Marina T DiStefano Sami S Amr Heidi L Rehm Ahmad N Abou Tayoun

Genet Med 2019 11 4;21(11):2442-2452. Epub 2019 Jun 4.

Al Jalila Children's Specialty Hospital, Dubai, UAE.

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November 2019

A newly identified mutation in the gene is associated with a milder form of Zellweger spectrum disorder.

Authors:
Akemi J Tanaka Kanji Okumoto Shigehiko Tamura Yuichi Abe Yoel Hirsch Liyong Deng Joseph Ekstein Wendy K Chung Yukio Fujiki

Cold Spring Harb Mol Case Stud 2019 02 1;5(1). Epub 2019 Feb 1.

Division of Organelle Homeostasis, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.

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February 2019

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Authors:
Emanuele Barca Rebecca D Ganetzky Prasanth Potluri Marti Juanola-Falgarona Xiaowu Gai Dong Li Chaim Jalas Yoel Hirsch Valentina Emmanuele Saba Tadesse Marcello Ziosi Hasan O Akman Wendy K Chung Kurenai Tanji Elizabeth M McCormick Emily Place Mark Consugar Eric A Pierce Hakon Hakonarson Douglas C Wallace Michio Hirano Marni J Falk

Hum Mol Genet 2018 10;27(19):3305-3312

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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October 2018

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

Authors:
John Pei-Wen Chiang Hongyu Luo Jie Duan Josef Ekstein Yoel Hirsch

Ophthalmic Genet 2018 Jan-Feb;39(1):135-136. Epub 2017 Jul 20.

b Dor Yeshorim, The Committee of Preventing Jewish Genetic Diseases , Brooklyn , New York , USA.

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June 2018