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Experiences, Perceptions, and Meanings of the Ultra-Orthodox in Israel Regarding Premarital Genetic Testing
This article focuses on experiences and perceptions of the Jewish ultra-Orthodox population in Israel—a religious minority—regarding premarital...
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A qualitative feasibility study of a prototype patient-centered video intervention to increase uptake of cancer genetic testing among Black Americans
BackgroundHealth advances due to developments in genomic medicine are unequally experienced in the USA; racial differences in the uptake of genetic...
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Genetic testing for Parkinson’s disease in clinical practice
The identification of disease-causing mutations or strong risk factors for Parkinson’s disease in genes encoding proteins such as α-synuclein (SNCA),...
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Toward Genetic Testing of Rivaroxaban? Insights from a Systematic Review on the Role of Genetic Polymorphism in Rivaroxaban Therapy
BackgroundInvestigations into the rivaroxaban response from the perspective of genetic variation have been relatively recent and wide in scope,...
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Assessment of gene–disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA
BackgroundVascular anomalies caused by somatic (postzygotic) variants are clinically and genetically heterogeneous diseases with overlapping or...
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Germline Genetic Testing in Breast Cancer: Systemic Therapy Implications
Purpose of ReviewIn this article, we discuss recent advances in germline genetic testing for patients with breast cancer and highlight current...
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Genetic testing in privately insured women with surgically treated breast cancer
PurposeRates of BRCA1 and BRCA2 prevalence among women with breast cancer vary by age, hormone receptor status, and family history. Recommendations...
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Germline testing and genetic counselling in prostate cancer
Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by precision medicine. Rates of germline pathogenic variants...
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The value of pre-symptomatic genetic risk assessment for age-related macular degeneration: the Moran AMD Genetic Testing Assessment (MAGENTA) study—a study protocol for a randomized controlled trial
BackgroundAge-related macular degeneration (AMD) is an irreversible blinding eye condition with complex genetic and environmental etiologies. Genetic...
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Preimplantation genetic testing for aneuploidy: predictive embryonic factors
PurposeIn a preimplantation genetic testing for aneuploidy (PGT-A) cycle, does the blastocyst quality before biopsy, or the day of biopsy, or the...
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Genetic Testing in Acute and Chronic Pancreatitis
Purpose of reviewPremature intracellular activation of pancreatic zymogens leads to the initiation of pancreatitis, which in up to 25% leads to...
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Genetic Testing Among Patients with High-Risk Breast, Ovarian, Pancreatic, and Prostate Cancers
BackgroundThe National Comprehensive Cancer Network recommends genetic testing in patients with potentially hereditary breast, ovarian, pancreatic,...
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An appraisal of genetic testing for prostate cancer susceptibility
Most criteria for genetic testing for prostate cancer susceptibility require a prior diagnosis of prostate cancer, in particular cases with...
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Blocker displacement amplification-based genetic diagnosis for autosomal dominant polycystic kidney disease and the clinical outcomes of preimplantation genetic testing
ObjectiveGiven that the molecular diagnosis of autosomal dominant polycystic kidney disease (ADPKD) is complicated, we aim to apply blocker...
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First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome
PurposeTo showcase the successful use of ICSI with PGT-M to overcome Beckwith-Wiedemann syndrome (BWS)–related reproductive challenges, resulting in...
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Expanded genetic testing of GIST patients identifies high proportion of non-syndromic patients with germline alterations
Traditional genetic testing for patients with gastrointestinal stromal tumors (GISTs) focus on those with syndromic features. To assess whether...
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Current Applications and Controversies in Preimplantation Genetic Testing for Aneuploidies (PGT-A) in In Vitro Fertilization
Preimplantation genetic testing for aneuploidy (PGT-A) has evolved over recent years, including improvements in embryo culture, biopsy, transfer, and...
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Mapping ethical, legal, and social implications (ELSI) of preimplantation genetic testing (PGT)
PurposePreimplantation Genetic Testing (PGT) has attracted considerable ethical, legal, and social scrutiny, but academic debate often fails to...
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Successful preimplantation genetic testing for fibrodysplasia ossificans progressiva: a case report
Purpose of the studyFibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant condition that leads to significant disability and...
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Preimplantation genetic testing for hereditary hearing loss in Chinese population
PurposeTo evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population.
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