Chen Weiner
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View article: Variants in the <i>WDR45</i> Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy
Variants in the <i>WDR45</i> Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy Open
Among two families with isolated X-linked optic atrophy, molecular analysis revealed novel variants in the WDR45 gene in full segregation with the disease. This gene resides within the OPA2 locus, previously described to associate with X-l…
View article: Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry. Open
This study is the first to describe IRDs' phenotypic and molecular characteristics in the Ethiopian Jewish community. Most of the identified variants are rare. Our findings can help caregivers with clinical and molecular diagnosis and, we …
View article: SARS-CoV-2 evolution and evasion from multiple antibody treatments in a cancer patient
SARS-CoV-2 evolution and evasion from multiple antibody treatments in a cancer patient Open
Infection with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in immunocompromised patients may lead to accelerated viral mutation rate, immune evasion and persistent viral shedding over many months. Here we report the case o…
View article: Population differences in antibody response to SARS‐CoV‐2 infection and BNT162b2 vaccination
Population differences in antibody response to SARS‐CoV‐2 infection and BNT162b2 vaccination Open
The concentration of SARS‐CoV‐2‐specific serum antibodies, elicited by vaccination or infection, is a primary determinant of anti‐viral immunity, which correlates with protection against infection and COVID‐19. Serum samples were obtained …
View article: The SARS-CoV-2 Lambda variant and its neutralisation efficiency following vaccination with Comirnaty, Israel, April to June 2021
The SARS-CoV-2 Lambda variant and its neutralisation efficiency following vaccination with Comirnaty, Israel, April to June 2021 Open
The SARS-CoV-2 Lambda (Pango lineage designation C.37) variant of interest, initially identified in Peru, has spread to additional countries. First detected in Israel in April 2021 following importations from Argentina and several European…
View article: Association of Variants in <i>TMEM45A</i> With Keratoglobus
Association of Variants in <i>TMEM45A</i> With Keratoglobus Open
Expression of TMEM45A has been previously shown to result in upregulation of extracellular matrix components and fibrosis. These results suggest that isolated congenital keratoglobus is an autosomal recessively inherited disorder associate…
View article: Antibody response to SARS-CoV-2 infection and BNT162b2 vaccine in Israel
Antibody response to SARS-CoV-2 infection and BNT162b2 vaccine in Israel Open
Neutralizing antibodies targeting the Spike protein of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) block viral entry to host cells, preventing disease and further spread of the pathogen. The presence of SARS-CoV-2 antibodi…
View article: Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration
Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration Open
Purpose: To identify rare genetic variants in early age-related macular degeneration (AMD) utilizing whole-exome sequencing (WES). Methods: Eight non-related early-AMD families of different Jewish ethnicities were ascertained. Initial muta…
View article: Reversal of Cystoid Macular Edema in Gyrate Atrophy Patients
Reversal of Cystoid Macular Edema in Gyrate Atrophy Patients Open
Purpose: This study reports the presentation of two families with gyrate atrophy (GA). The aim of this study was to characterize the potential effect of therapeutic regimens on macular edema.Methods: Two unrelated patients with GA were stu…