Search
Search Results
-
Fragmented responsibility: views of Israeli HCPs regarding patient recontact following variant reclassification
While genomic medicine is becoming an important part of patient care with an ever-increasing diagnostic yield, recontacting patients after...
-
Educational tools support informed decision-making for genetic carrier screening in a heterogenic Israeli population
Reproductive genetic carrier screening (RGCS) aims to provide couples with information to make informed decisions. Since 2013, the Israeli Carrier...
-
MHC Haploty** of SARS-CoV-2 Patients: HLA Subtypes Are Not Associated with the Presence and Severity of COVID-19 in the Israeli Population
HLA haplotypes were found to be associated with increased risk for viral infections or disease severity in various diseases, including SARS. Several...
-
A study of normal copy number variations in Israeli population
The population of Israel is ethnically diverse, and individuals from different ethnic groups share specific genetic variations. These variations,...
-
Long-term all-cause mortality and its association with cardiovascular risk factors in thyroid cancer survivors: an Israeli population-based study
BackgroundThe global incidence of thyroid cancer (TC) has risen considerably during the last three decades, while prognosis is generally favorable....
-
A mixed-methods sequential explanatory design comparison between COVID-19 infection control guidelines’ applicability and their protective value as perceived by Israeli healthcare workers, and healthcare executives’ response
BackgroundHealthcare workers (HCWs) are on the front line of the COVID-19 outbreak, and their constant exposure to infected patients and contaminated...
-
Height as a risk factor in meningioma: a study of 2 million Israeli adolescents
BackgroundMeningiomas are the most common primary central nervous system tumors. Potential risk factors include obesity, height, history of...
-
Characteristics of endovascular pneumococcal infections; a decade of nationwide surveillance study
In order to characterize pneumococcal endovascular infection in the post-vaccination era, a retrospective nationwide study based on the Israeli Adult...
-
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panels
BackgroundThe American College of Medical Genetics and Genomics (ACMG) recently published new tier-based carrier screening recommendations. While...
-
First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery
A high rate of consanguinity leads to a high prevalence of autosomal recessive disorders in inbred populations. One example of inbred populations is...
-
Effectiveness of a second BNT162b2 booster vaccine against hospitalization and death from COVID-19 in adults aged over 60 years
The rapid emergence of the B.1.1.529 (Omicron) variant of SARS-CoV-2 led to a global resurgence of coronavirus disease 2019 (COVID-19). Israeli...
-
Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses
Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms...
-
Perampanel effectiveness in treating ROGDI-related Kohlschütter-Tönz syndrome: first reported case in China and literature review
PurposeThis study reported the first case of Kohlschütter-Tönz syndrome (KTS) in China and reviewed the literature of the reported cases.
...
-
Real-world patient-reported outcomes and physician satisfaction with poly (ADP-ribose) polymerase inhibitors versus chemotherapy in patients with germline BRCA1/2-mutated human epidermal growth factor receptor 2–negative advanced breast cancer from the United States, Europe, and Israel
BackgroundIn clinical trials, poly (ADP-ribose) polymerase inhibitors (PARPi) versus chemotherapy resulted in significantly improved progression-free...
-
Traditional Uses of Cannabis in the Middle East and the Pathway to Cannabis-Based Healthcare in Israel
Cannabis sativa is one of the oldest cultivated plants, being used by humanity for thousands of years for medicinal and food purposes, ritual, and...
-
Recurring pathogenic variants in the BRCA2 gene in the Ethiopian Jewish population. Founder mutations?
Mutations in the BRCA1 and BRCA2 genes increase the risk for various cancers including breast, ovarian, prostate, pancreas and melanoma. Identifying BRCA1/2...
-
A De Novo SEMA6B Variant in a Chinese Patient with Progressive Myoclonic Epilepsy-11 and Review of the Literature
Progressive myoclonic epilepsy is a group of neurodegenerative diseases with complex clinical and genetic heterogeneity, which is associated with...
-
Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
AbstractJuvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation...
-
Use of antibiotics and factors associated with treatment failure among 152,245 patients with pneumonia treated in the community — a retrospective cohort study
This study aims to evaluate risk factors associated with treatment failure and the antibiotics prescribed by primary care physicians in a large...
