Yoel Hirsch

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 3

Top Topics

Mitochondrial Dna

Pulmonary Arterial Hypertension

Top Venues

Journal of medical genetics

International journal of molecular sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Yoel Hirsch, Wendy K Chung, Sergey S Novoselov, Louis H Weimer, Alexander Rossor, Charles A LeDuc, Amanda J McPartland, Ernesto Cabrera, Josef Ekstein, Sholem Scher, Rick F Nelson, Giampietro Schiavo, Lindsay B Henderson, Kevin T A Booth
Biallelic Loss-of-Function Variants in BICD1 Are Associated with Peripheral Neuropathy and Hearing Loss. International journal of molecular sciences 24 (10) (2023)
Rivka Birnbaum, Shlomit Ezer, Nava Shaul Lotan, Avital Eilat, Keren Sternlicht, Lilach Benyamini, Orit Reish, Tzipora C Falik-Zaccai, Gali Ben-Gad, Raya Rod, Reeval Segel, Katherine Kim, Barabra Burton, Catherine E Keegan, Mallory Wagner, Lindsay B Henderson, Nofar Mor, Ortal Barel, Yoel Hirsch, Vardiella Meiner, Orly Elpeleg, Tamar Harel, Hagar Mor-Shaked
Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews. Journal of medical genetics (2023)
Rajiv D Machado, Carrie L Welch, Matthias Haimel, Marta Bleda, Elizabeth Colglazier, John D Coulson, Marusa Debeljak, Josef Ekstein, Jeffrey R Fineman, William Christopher Golden, Emily L Griffin, Charaka Hadinnapola, Michael A Harris, Yoel Hirsch, Julie Elizabeth Hoover-Fong, Lawrence M Nogee, Lewis H Romer, Samo Vesel, null null, Stefan Gräf, Nicholas W Morrell, Laura Southgate, Wendy K Chung
Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. Journal of medical genetics (2021)