Zobrazeno 1 - 10
of 1 180
pro vyhledávání: '"V. Reid"'
Publikováno v:
BMC Public Health, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Background The COVID-19 pandemic was characterized by an abundance of information, some of it reliable and some of it misinformation. Evidence-based data on the impact of misinformation on attitudes and behaviours remains limited. Studies in
Externí odkaz:
https://doaj.org/article/e0d28fcb980c4784a6facc1b31a7bf97
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
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101832- (2024)
Externí odkaz:
https://doaj.org/article/c823b505596e4ed2bcaa5d78365fd992
Autor:
Zeynep Coban-Akdemir, Xiaofei Song, Francisco C. Ceballos, Davut Pehlivan, Ender Karaca, Yavuz Bayram, Tadahiro Mitani, Tomasz Gambin, Tugce Bozkurt-Yozgatli, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Lewis, Pengfei Liu, Eric Boerwinkle, Ada Hamosh, Richard A. Gibbs, V. Reid Sutton, Nara Sobreira, Claudia M.B. Carvalho, Chad A. Shaw, Jennifer E. Posey, David Valle, James R. Lupski
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101830- (2024)
Purpose: The variome of the Turkish (TK) population, a population with a considerable history of admixture and consanguinity, has not been deeply investigated for insights on the genomic architecture of disease. Methods: We generated and analyzed a d
Externí odkaz:
https://doaj.org/article/4b8466185e2c495d93ed506bd062f406
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101013- (2023)
Externí odkaz:
https://doaj.org/article/7478f096bc7c42d689df92b257b8df3b
Autor:
Samar Rahhal, Cristan Farmer, Audrey Thurm, Christopher A. Wassif, Niamh X. Cawley, John Perreault, An Dang Do, Simona Bianconi, Fady Hannah-Shmouni, Whitney Guthrie, Laura S. Cubit, Judith S. Miller, V. Reid Sutton, Dwight Koeberl, Forbes D. Porter
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101001- (2023)
Background: Creatine transporter deficiency (CTD) is a rare X-linked disorder of creatine transport caused by pathogenic variants in SLC6A8 (Xq28). The disorder is marked by developmental delay, especially speech delay. The biomarkers Aβ40, Aβ42 an
Externí odkaz:
https://doaj.org/article/f3fb51c11aca47f49c9ed8fa1ae4f882
Autor:
Angad Jolly, Haowei Du, Christelle Borel, Na Chen, Sen Zhao, Christopher M. Grochowski, Ruizhi Duan, Jawid M. Fatih, Moez Dawood, Sejal Salvi, Shalini N. Jhangiani, Donna M. Muzny, André Koch, Konstantinos Rouskas, Stavros Glentis, Efthymios Deligeoroglou, Flora Bacopoulou, Carol A. Wise, Jennifer E. Dietrich, Ignatia B. Van den Veyver, Antigone S. Dimas, Sara Brucker, V. Reid Sutton, Richard A. Gibbs, Stylianos E. Antonarakis, Nan Wu, Zeynep H. Coban-Akdemir, Lan Zhu, Jennifer E. Posey, James R. Lupski
Publikováno v:
HGG Advances, Vol 4, Iss 3, Pp 100188- (2023)
Summary: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is characterized by aplasia of the female reproductive tract; the syndrome can include renal anomalies, absence or dysgenesis, and skeletal anomalies. While functional models have elucidated se
Externí odkaz:
https://doaj.org/article/cb1320d2b3eb48cfacde06337026d1f0
Autor:
Bonnie McCann-Crosby, Mark C. Liang, Mitchell E. Geffner, Christina M. Koppin, Nicole R. Fraga, V. Reid Sutton, Lefkothea P. Karaviti, Gagandeep Bhullar, Mimi S. Kim
Publikováno v:
International Journal of Neonatal Screening, Vol 9, Iss 3, p 50 (2023)
Screening for congenital adrenal hyperplasia (CAH) remains heterogenous across geographies—we sought to determine the proportion of non-classical CAH (NCAH) detection by one vs. two newborn screens (NBS) in two U.S. regions. Data were collected at
Externí odkaz:
https://doaj.org/article/ed79de73f1e0409a8a43b67b920b4ec3
Autor:
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz:
https://doaj.org/article/335675b4b479443ca3e74cb451032f99
Publikováno v:
Case Reports in Obstetrics and Gynecology, Vol 2022 (2022)
Robinow syndrome is a genetically heterogenous syndrome that exhibits great pleiotropy, involving skeletal genital, cardiac, and craniofacial developmental anomalies. Fertility is not always compromised, and many individuals may be able to have a hea
Externí odkaz:
https://doaj.org/article/97a8337a0d3f4e8591b22d5fcfcae8c5