Publications by authors named "Yoel Hirsch"

10Publications

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

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

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

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

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

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

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

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

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

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