Mordechai Shohat
Publications by Year
Research Areas
Inflammasome and immune disorders, Hearing, Cochlea, Tinnitus, Genetics, Prenatal Screening and Diagnostics, Connective tissue disorders research, Cholesterol and Lipid Metabolism
Most-Cited Works
- → The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies(2009)396 cited
- → Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study(2003)289 cited
- → Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel(2001)228 cited
- → Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations(2006)222 cited
- → Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis(1999)210 cited
- → Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families(2011)201 cited
- → Familial Central Precocious Puberty Suggests Autosomal Dominant Inheritance(2004)195 cited
- → Familial Mediterranean fever—A review(2011)180 cited
- → Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome(2003)156 cited
- → The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population(2000)151 cited