Mordechai Shohat

The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies

Jan O. Korbel, Tal Tirosh‐Wagner, Alexander E. Urban et al. · Proceedings of the National Academy of Sciences · 2009 · 393 citations · Full text

Down Syndrome, Severe Mental Retardation, Developmental Biology +14

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo et al. · The American Journal of Human Genetics · 2003 · 289 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +9

Fragile-X Carrier Screening and the Prevalence of Premutation and Full-Mutation Carriers in Israel

Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal et al. · The American Journal of Human Genetics · 2001 · 228 citations · Full text

Genetic Testing, Mendelian Disorder, Genetic Disorder +10

Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA Mutations

Min‐Xin Guan, Qingfeng Yan, Xiaoming Li et al. · The American Journal of Human Genetics · 2006 · 222 citations · Full text

Rna Modification, Mitochondrial Biogenesis, Mitochondrial Function +10

Phenotype–genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis

Mordechai Shohat, Nurit Magal, Tami Shohat et al. · European Journal of Human Genetics · 1999 · 210 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +9