Výsledky vyhledávání - "Theresa A. Wilson"

Akademický článek

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Autor: Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea

Publikováno v: Frontiers in Genetics, Vol 15 (2024)

Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence o

Externí odkaz: https://doaj.org/article/29eec710b9ad4cdf9ea448935aba96f4

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Akademický článek

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Autor: Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu, Paweł Stankiewicz

Publikováno v: Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

Abstract Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF)

Externí odkaz: https://doaj.org/article/a079991ce3584d29b2db22f250c93147

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Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases. We analyzed approximately 2000 family trio ES data sets from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Baylor Geneti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86294219b3b72016d58c94bb82c77d1e
https://doi.org/10.1038/s41436-020-0897-z

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Relationships between food-related behaviors, obesity, and medication use in individuals with Smith-Magenis syndrome

Autor: Anusha A. Gandhi, Theresa A. Wilson, Stephanie Sisley, Sarah H. Elsea, Rebecca H. Foster

Publikováno v: Research in developmental disabilities. 127

Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder that includes obesity and food-seeking/satiety-related behaviors.This study examined associations between food-related/hyperphagic behaviors, weight, and medication use in individu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1bd1955767bb3cd39c92454e5241637
https://pubmed.ncbi.nlm.nih.gov/35597045

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Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Autor: Tomasz Gambin, Theresa A. Wilson, Katharina V. Schulze, Ido Machol, Yaping Yang, Roni Zemet, Pawel Stankiewicz, Daniel David Domogala, Pengfei Liu, Chung Wah Wu

Publikováno v: Human Genomics
Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)

Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) Methods Using a customized bioinformatics pipeline, we analyzed apparent de novo single-nucleotide variants or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dce09765d4960720bb25cc7d37f6bb83
http://europepmc.org/articles/PMC8686574

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Akademický článek

Comparison of synthetic saponin cholesterol absorption inhibitors in rabbits: evidence for a non-stoichiometric, intestinal mechanism of action1

Autor: Lee A. Morehouse, Faan-Wen Bangerter, Michael P. DeNinno, Philip B. Inskeep, Peter A. McCarthy, Judith L. Pettini, Yvette E. Savoy, Eliot D. Sugarman, Robert W. Wilkins, Theresa C. Wilson, Heidi A. Woody, Lawrence M. Zaccaro, Charles E. Chandler

Publikováno v: Journal of Lipid Research, Vol 40, Iss 3, Pp 464-474 (1999)

The hypocholesterolemic activities of pamaqueside and tiqueside, two structurally similar saponins, were evaluated in cholesterol-fed rabbits. The pharmacological profiles of the saponins were virtually identical: both dose-dependently decreased the

Externí odkaz: https://doaj.org/article/54949688d31149199b023ce42391549f

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Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Autor: Sau Wai Cheung, Christopher M. Grochowski, Amy M. Breman, Pawel Stankiewicz, Theresa A. Wilson, Justyna A. Karolak, Weimin Bi, Qian Liu, James R. Lupski, Carlos A. Bacino, Ankita Patel, Seema R. Lalani, Janice L. Smith, Jill A. Rosenfeld

Publikováno v: Genomics

To further assess the scale and level of parental somatic mosaicism, we queried the CMA database at Baylor Genetics. We selected 50 unrelated families where clinically relevant apparent de novo CNV-deletions were found in the affected probands. Paren

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0386ed762f05d0e684f0c8c2934ddfb
https://pubmed.ncbi.nlm.nih.gov/32387503

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