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with Genetics as keyword

Home collection of products of conception: Can chromosomal analysis be obtained?

Published in Journal of gynecology obstetrics and human reproduction

The majority of early pregnancy losses are due to chromosomal abnormalities, which can be evaluated by testing the products of conception (POCs). Traditionally, a dilation and curettage (D&C) is recommended to patients to obtain suitable tissue for analysis. This case series sought to determine whether patients with first-trimester pregnancy losses...

The MinION as a cost-effective technology for diagnostic screening of the SCN1A gene in epilepsy patients

The MinION is a portable DNA sequencer that allows real time sequencing at low capital cost investment. We assessed accuracy and cost-effectivess of the MinION for genetic diagnostic testing of known SCN1A mutations that cause Dravet Syndrome (DS). DNA samples (n = 7) from DS patients previously shown to carry SCN1A mutations via Ion Torrent and Sa...

Sudden cardiac death in persons aged 50 years or younger: diagnostic yield of a regional molecular autopsy program using...

Published in Revista espanola de cardiologia (English ed.)

Sudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of "molecular autopsy" may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing. We performed a prospective study of a cohort of consecutive pa...

Development of an Algorithm to Identify Cases of Nonalcoholic Steatohepatitis Cirrhosis in the Electronic Health Record....

Published in Digestive diseases and sciences

Current genetic research of nonalcoholic steatohepatitis (NASH) cirrhosis is limited by our ability to accurately identify cases on a large scale. Our objective was to develop and validate an electronic health record (EHR) algorithm to accurately identify cases of NASH cirrhosis in the EHR. We used Clinical Query 2, a search tool at Beth Israel Dea...

Editorial Commentary: What Determines the Risk of Cardiovascular Disease in Familial Hypercholesterolemia?

Published in Trends in cardiovascular medicine

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinic...

Published in Ophthalmology

To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. Retrospective case series. Patients with a detailed clinical phenotype consistent with ARB, biallelic likely disease-causing sequence variants in the BEST1 gene, or both identified at ...

Enhancer redundancy in development and disease.

Shadow enhancers are seemingly redundant transcriptional cis-regulatory elements that regulate the same gene and drive overlapping expression patterns. Recent studies have shown that shadow enhancers are remarkably abundant and control most developmental gene expression in both invertebrates and vertebrates, including mammals. Shadow enhancers migh...