Email

hubshman@bcm.edu

Positions

Assistant Professor

Baylor College of Medicine

Addresses

Texas Children's hospital (Hospital)

6621 Fannin St, Houston, TX
Houston, TX 77030
United States

Alkek Building for Biomedical Research (Lab)

Room: ABBR-R830
Houston, TX 77030
United States

Education

Residency at Schneider Children's Medical Center

Petah Tikva, Israel

Residency at Rabin Medical Center

Petah Tikva, Israel

Certifications

MD, Ph.D

Technion- Israel Institute of Technology

Pediatrician

Schneider Children's Medical Center

Medical Geneticist

Rabin Medical Center

Professional Statement

Interested in elucidation of genetic and molecular mechanisms underlying rare disorders and help to treat, counsel and develop potential personalized therapies for rare diseases.

Selected Publications

• L.Li, M.Ghorbani, M. Weisz-Hubshman et al. "Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability." JCI. 2020 Mar 2;130(3):1431-1445. Pubmed PMID: 31794431
• M Weisz-Hubshman et al. "Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews." Eur J Paediatr Neurol. 2019 May 23;3:418-426. Pubmed PMID: 30853297
• M Weisz-Hubshman et al. "Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa." Hum Mol Genet .. 2018 Feb 15;27(4):614-624. Pubmed PMID: 29272404
• M Weisz-Hubshman et al. "Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis." Clin. Genet.. 2017 Jun;91(6):902-907. Pubmed PMID: 27808398

Projects

Deciphering the molecular mechanism underlying DDRGK1 associated SEMD

Baylor College of Medicine (09/2017 - present)

Languages

Hebrew, Hungarian, French, Romanian