Hagit Shani
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View article: Transmission ratio distortion of germline <i>TP53</i> variants in Li–Fraumeni syndrome families
Transmission ratio distortion of germline <i>TP53</i> variants in Li–Fraumeni syndrome families Open
Background Li–Fraumeni syndrome (LFS) is a rare autosomal‐dominant cancer‐predisposition syndrome caused by germline pathogenic or likely pathogenic variants (P/LPVs) in the TP53 gene. Classical autosomal‐dominant inheritance predicts a 50…
View article: Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome Open
Background Phelan–McDermid syndrome (PMS) is a neurodevelopmental disorder, caused by haploinsufficiency of the SHANK3 gene. In addition to global developmental delay (GDD)/intellectual disability (ID) and autism spectrum disorder (ASD), P…
View article: Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases Open
View article: Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a “virtual fetus” model‐a pilot study Open
Objective Significant discrepancy exists between laboratories in classification and reporting of copy number variants (CNVs). Studies exploring factors affecting prenatal CNV management are rare. Our “virtual fetus” pilot study examines th…
View article: Amniotic Fluid Organoids As Personalized Tools For Real-Time Modeling Of The Developing Fetus
Amniotic Fluid Organoids As Personalized Tools For Real-Time Modeling Of The Developing Fetus Open
Despite biomedical advances, major knowledge gaps regarding human development remain, and many developmental disorders lack effective treatment, representing a huge clinical burden. This results from fetuses being largely inaccessible for …
View article: Congenital hypotonia: systematic approach for prenatal detection
Congenital hypotonia: systematic approach for prenatal detection Open
Objectives Congenital hypotonic conditions are rare and heterogeneous, and some are severely debilitating or lethal. Contrary to its prominent postnatal manifestation, the prenatal presentation of hypotonia is frequently subtle, inhibiting…
View article: P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy
P557: Preimplantation genetic diagnosis for facioscapulohumeral muscular dystrophy Open
View article: eP099: Wiedemann-Rautenstrauch syndrome- New pathways for an old disease
eP099: Wiedemann-Rautenstrauch syndrome- New pathways for an old disease Open
View article: Can expelled cells/debris from a developing embryo be used for PGT?
Can expelled cells/debris from a developing embryo be used for PGT? Open
Background Preimplantation genetic testing (PGT) is offered to a wide range of structural and numerical chromosomal imbalances, with PGT- polymerase chain reaction (PCR), as the method of choice for amplifying the small DNA content achieve…
View article: Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests
Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests Open
Adaptive sample pooling for SARS-CoV-2 testing based on positivity rates spares 76% of test reactions without compromising specificity or sensitivity.
View article: Do human embryos have the ability of self-correction?
Do human embryos have the ability of self-correction? Open
View article: Is Day-4 morula biopsy a feasible alternative for preimplantation genetic testing?
Is Day-4 morula biopsy a feasible alternative for preimplantation genetic testing? Open
Day-4 embryo biopsy is feasible and yields comparable and even higher ongoing pregnancy rate if undertaken at the morula stage. Further studies evaluating the cumulative live-birth rate per started cycles in Day-3 vs Day-4 embryo biopsy fo…
View article: Timing day-3 vitrification for PGT-M embryos: pre- or post-blastomere biopsy?
Timing day-3 vitrification for PGT-M embryos: pre- or post-blastomere biopsy? Open
View article: Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection
Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection Open
View article: Is Day-4 morula biopsy a feasible alternative for preimplantation genetic testing?
Is Day-4 morula biopsy a feasible alternative for preimplantation genetic testing? Open
Objective To assess the efficacy and clinical outcome of PGT-M undertaken on Day-3, Day-4 and Day-4 “delayed” embryos that were unsuitable for biopsy on Day-3. Design and setting Cohort-historical study of all consecutive patients admitted…
View article: Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity
Primary Peritoneal Serous Carcinoma in Men: A Rare and Non-BRCA-associated Entity Open
PPSC is a rare neoplasm, seemingly not associated with BRCA mutations in men, and fallopian tube epithelial cell implants may contribute to its development.