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, +30

Proceedings of the National Academy of Sciences

Down SyndromeSevere Mental RetardationDevelopmental BiologyMendelian DisorderGenetic Disorder +12

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, +25

The American Journal of Human Genetics

Genetic DisorderGeneticsGenetic EpidemiologyAudiologyEvolutionary Origins +7

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

Hagit Toledano‐Alhadef, Lina Basel‐Vanagaite, Nurit Magal, +7

The American Journal of Human Genetics

Genetic TestingMendelian DisorderGenetic DisorderGeneticsGenetic Epidemiology +8

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, +19

The American Journal of Human Genetics

Rna ModificationMitochondrial BiogenesisMitochondrial FunctionNatural SciencesGenetics +8

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

Mordechai Shohat, Nurit Magal, Tami Shohat, +12

European Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicinePathogenesisGenetic Epidemiology +7

Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in middle eastern families

Zippora Brownstein, Lilach M. Friedman, Hashem Shahin, +18

Genome biology

Familial Central Precocious Puberty Suggests Autosomal Dominant Inheritance

Liat de Vries, Arieh Kauschansky, Mordechai Shohat, +1

The Journal of Clinical Endocrinology & Metabolism

Family MedicineAutosomal Dominant InheritanceFertilityTeenage PregnancyGenetics +16

Obsessive‐compulsive disorder in patients with velocardiofacial (22q11 deletion) syndrome

Doron Gothelf, Gadi Presburger, Ada H. Zohar, +12

American Journal of Medical Genetics Part B Neuropsychiatric Genetics

Neurogenetic Microdeletion SyndromesPsychological Co-morbiditiesPsychiatryObsessive‐compulsive DisorderEarly-onset Ocd +10

The prevalence and expression of inherited connexin 26 mutations associated with nonsyndromic hearing loss in the Israeli population

Tama Sobe, Sarah Vreugde, Hashem Shahin, +8

Human Genetics

Israeli PopulationInherited Connexin 26AudiologyAuditory PhysiologyNonsyndromic Hearing Loss +5

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in <i>PIGN</i>

G. Maydan, Iris Noyman, Adi Har‐Zahav, +9

Journal of Medical Genetics