A5078859010- Hearing, Cochlea, Tinnitus, Genetics
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- DNA Repair Mechanisms
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Ear Surgery and Otitis Media
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Chromatin Remodeling and Cancer
- Congenital heart defects research
- Fetal and Pediatric Neurological Disorders
- Epilepsy research and treatment
- Hormonal Regulation and Hypertension
- ATP Synthase and ATPases Research
- dental development and anomalies
- Genetics and Neurodevelopmental Disorders
- Hearing Loss and Rehabilitation
- Cancer-related gene regulation
- Cancer Genomics and Diagnostics
- Connexins and lens biology
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- Cancer-related molecular mechanisms research
- Hedgehog Signaling Pathway Studies
Rafik Hariri University Hospital
2020-2024
Tel Aviv University
2021-2022
Bethlehem University
2015-2020
Shaare Zedek Medical Center
2016
Jerusalem Mental Health Center
2016
University of Washington
2016
Hebrew University of Jerusalem
2016
The genetic characterization of a common phenotype for an entire population reveals both the causes that place and power family-based, population-wide genomic analysis gene mutation discovery. We characterized genetics hearing loss throughout Palestinian population, enrolling 2,198 participants from 491 families all parts West Bank Gaza. In with no prior history loss, we estimate 56% is 44% not genetic. For great majority (87%) inherited panel-based DNA sequencing, followed by segregation...
To identify the genetic basis of a recessive syndrome characterized by prenatal hyperechogenic brain foci, congenital microcephaly, hypothalamic midbrain dysplasia, epilepsy, and profound global developmental disability.Identification responsible gene whole exome sequencing homozygosity mapping.Ten patients from 4 consanguineous Palestinian families manifested in utero with intrauterine growth retardation. Postnatally, had progressive severe neonatal seizures, virtually no milestones. Brain...
Background Familial glucocorticoid deficiency (FGD) reflects specific failure of adrenocortical production in response to adrenocorticotropic hormone (ACTH). Most cases are caused by mutations encoding ACTH-receptor components ( MC2R , MRAP ) or the general steroidogenesis protein (StAR). Recently, nicotinamide nucleotide transhydrogenase NNT were found cause FGD through a postulated mechanism resulting from decreased detoxification reactive oxygen species (ROS) cells. Methods and results In...
Breast cancer among Palestinian women has lower incidence than in Europe or North America, yet is very frequently familial. We studied genetic causes of this familial clustering a consecutive hospital‐based series 875 patients with invasive breast cancer, including 453 diagnosis by age 40, ovarian mother, sister, grandmother aunt (“discovery series”); and 422 diagnosed after 40 negative family history (“older‐onset sporadic patient series”). Genomic DNA from the discovery was sequenced for...
Abstract Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness (DFNA) remains challenging. We report a new DFNA gene, ATP11A , in Newfoundland family with variable form bilateral sensorineural hearing loss (SNHL). Genome-wide SNP genotyping linked SNHL to DFNA33 (LOD = 4.77), locus on 13q34 previously mapped German SNHL. Whole-genome sequencing identified 51 unremarkable positional variants . Continuous...
Abstract Purpose To identify the accurate clinical diagnosis of rare syndromic inherited retinal diseases (IRDs) based on combination and genetic analyses. Methods Four unrelated families with various autosomal recessive were genetically investigated using whole‐exome sequencing ( WES ). Results Two affected subjects in family MOL 0760 presented a distinctive short stature, developmental delay, congenital mental retardation, microcephaly, facial dysmorphism retinitis pigmentosa RP Subjects...
Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with epilepsy variable foci (FFEVF). Family I 10 affected individuals and II five underwent detailed phenotyping over three generations. The phenotypic spectrum of two varied from nonlesional including nocturnal frontal lobe severe structural due hemimegalencephaly. Whole-exome single...
Abstract Mutations in more than 150 genes are responsible for inherited hearing loss, with thousands of different, severe causal alleles that vary among populations. The Israeli Jewish population includes communities diverse geographic origins, revealing a wide range deafness‐associated variants and enabling clinical characterization the associated phenotypes. Our goal was to identify genetic causes loss this population, determine relationships genotype, phenotype, ethnicity. Genomic DNA...
Abstract Background Next-generation sequencing (NGS) has significantly transformed the landscape of identifying disease-causing genes associated with genetic disorders. However, a substantial portion sequenced patients remains undiagnosed. This may be attributed not only to challenges posed by harder-to-detect variants, such as non-coding and structural variations but also existence variants in previously patient’s clinical phenotype. study introduces EvORanker, an algorithm that integrates...
Fanconi anemia is a genetically and phenotypically heterogeneous disorder characterized by congenital anomalies, bone marrow failure, cancer, sensitivity of chromosomes to DNA cross-linking agents. One the 22 genes responsible for BRIP1 , in which biallelic truncating mutations lead group J monoallelic predispose certain cancers. However, more than 1000 reported missense very few have been functionally characterized. We evaluated functional consequence p.R848H (c.2543G > A), was...
This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and dominant neurodevelopmental disorders. Molecularly, role nucleolar protein ACTL6B in contributing disease has remained unclear.