A5017649832- Retinal Development and Disorders
- Prenatal Screening and Diagnostics
- Retinal Diseases and Treatments
- Connexins and lens biology
- Congenital Anomalies and Fetal Surgery
- Genomic variations and chromosomal abnormalities
- Hearing, Cochlea, Tinnitus, Genetics
- BRCA gene mutations in cancer
- Ear Surgery and Otitis Media
- Ophthalmology and Visual Impairment Studies
- Cellular transport and secretion
- Intraocular Surgery and Lenses
- Genetic Syndromes and Imprinting
- RNA regulation and disease
- Hearing Loss and Rehabilitation
- melanin and skin pigmentation
- Assisted Reproductive Technology and Twin Pregnancy
- Genetic and Kidney Cyst Diseases
- Cancer-related Molecular Pathways
- Maternal Mental Health During Pregnancy and Postpartum
- Skin and Cellular Biology Research
- Retinopathy of Prematurity Studies
- Retinal and Macular Surgery
- Gestational Trophoblastic Disease Studies
- Demographic Trends and Gender Preferences
Hadassah Medical Center
2006-2025
Hebrew University of Jerusalem
2011-2021
National Center on Birth Defects and Developmental Disabilities
2011
Purpose Inherited eye diseases (IEDs) are among the main causes of visual impairment and blindness in children young people worldwide. The objective our study was to characterize prevalence distribution most common IEDs causative genes population. Study design Retrospective based on medical records patients with who underwent genetic counselling through multidisciplinary low vision center from 2018 2020. Methods Data retrieved files included: year consultation, age, gender, ethnicity,...
Abstract Background Patients with Xp22.3 interstitial and terminal deletions have been shown to be affected by intellectual disability (ID) or autism. Previously, VCX‐A (variably charged protein X‐A), located at Xp22.3, was introduced as a gene for ID its presence suggested sufficient maintain normal mental development. Recent reports suggest that mutations in NLGN4 (neuroligin 4), same region, are involved autistic disorders ID. Methods In the current case study, we clinically molecularly...
To evaluate the yield and utility of routine use chromosomal microarray analysis (CMA) for prenatal genetic diagnosis in a large cohort pregnancies with normal ultrasound (US) at time testing, compared abnormal US findings.We reviewed all CMA results our center between November 2013 December 2018. The prevalence different testing ('low-risk pregnancies'), was that findings ('high-risk pregnancies'). Medical records were searched order to subsequent follow-up outcome clinically relevant...
Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, atrophy, photosensitivity, colonic inflammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported 1954, molecular basis of was elucidated 2003 with discovery FERMT1 (KIND1) loss-of-function mutations affected individuals. The gene encodes kindlin-1 (also known as fermitin family homologue 1), a 77 kDa protein that localizes at focal adhesions,...
Background: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order avoid transmitting form disease associated with impairment and ocular cancer.Material Methods: Retrospective case series women who underwent vitro fertilization (IVF) PGD due familial history and/or cancer, having child affected the known disease. Each family...
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...
OBJECTIVE: To examine the choices of women with both high-risk and low-risk pregnancies who are undergoing prenatal chromosomal microarray analysis in a clinical setting regarding three challenging types findings: variants uncertain significance, susceptibility loci for neurodevelopmental disorders, copy number associated risks adult-onset conditions. We assessed whether women's were indications testing or one-on-one pretest genetic counseling. METHODS: In this cross-sectional study, medical...
Abstract Purpose Bilateral pediatric cataract (BPC) is one of the most common causes childhood visual impairment and blindness worldwide. A significant percentage cataracts are caused by genetic alterations. We aim to characterize set genes variants that cause BPC in Israeli Palestinian populations assess genotype-phenotype correlation. Methods Retrospective study a multidisciplinary center for impairment, located tertiary medical center. Medical charts families who underwent counseling...
In Israel, Krabbe disease is frequent in two Moslem Arab villages the Jerusalem area. this paper we present our experience of almost four decades with diagnosis disease, carrier screening and prenatal diagnosis. The program well accepted by community, there a clear trend towards premarital testing. have led to decrease incidence from 1.6 per 1,000 live births 0.82 1,000.
Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression females was reported some families. We report here three non-related Ashkenazi Jewish families originating Eastern Europe, that included males and a many affected females, initially diagnosed variable retinal phenotypes.Materials Methods: Whole exome sequencing (WES), Sanger microsatellite haplotyping were used for genetic...
Purpose: To report genetic and clinical findings in a case series of 10 patients from eight unrelated families diagnosed with Senior–Løken syndrome. Methods: A retrospective study Data collected included electroretinography ocular imaging. Genetic analysis was based on molecular inversion probes, whole-exome sequencing (WES), Sanger sequencing. Results: All who underwent electrophysiology (8/10) had widespread photoreceptor degeneration. revealed two mutations NPHP1 , NPHP4 IQCB1 ( NPHP5 )....
Knobloch syndrome is a rare, recessively inherited disorder classically characterized by high myopia, retinal detachment, and occipital encephalocele. Our aim to report the clinical genetic findings of four Israeli children affected syndrome.Retrospective study patients diagnosed with syndrome, who underwent full ophthalmic examination, electroretinography, neuroradiologic imaging. Genetic analysis included whole exome sequencing (WES) Sanger sequencing.The in this had myopia nystagmus at...
Advanced prenatal genomic technologies can identify risks for adult-onset (AO) conditions in the fetus, challenging traditional purpose of testing. Professional guidelines commonly support disclosure high-penetrance AO actionable conditions, yet attitudes women/parents to these findings and factors affecting their are understudied.We explored 941 (77% response rate) postpartum women's towards receiving genetic information, associations sociodemographic, medical psychological characteristics...
Abstract Background Chromosomal‐microarray‐analysis (CMA) may reveal susceptibility‐loci (SL) of varied penetrance for autism‐spectrum‐disorder (ASD) and other neurodevelopmental conditions. Attitudes women/parents to disclosure SL during pregnancy are understudied. Methods A multiple‐choice questionnaire was distributed postpartum women. Data were collected on women's interest receive prenatal genetic information with various levels penetrance. Results Women's ( n = 941) choices dependent...
Hermansky-Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined disease-causing variants in specific genes. Variants the HPS1 gene were found approximately 15% patients, most whom harbor Puerto Rican founder mutation. In this study, we report six affected individuals from three nonconsanguineous families Ashkenazi Jewish descent, who...
The traditional timing for amniocentesis is between 17-23 weeks of pregnancy. This enables decisions related to the pregnancy be made before viability. Less frequently, third trimester performed. Advanced genomic technologies introduce far more detailed information about fetus compared G-banded chromosomal analysis. Not much known indications, safety and CMA yield this procedure. We aimed assess indications late amniocentesis, safety, genetic test results (especially microarray) outcome....
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...