Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Steven M. Harrison"'
Autor:
Jianhong Hu, Viktoriya Korchina, Hana Zouk, Maegan V. Harden, David Murdock, Alyssa Macbeth, Steven M. Harrison, Niall Lennon, Christie Kovar, Adithya Balasubramanian, Lan Zhang, Gauthami Chandanavelli, Divya Pasham, Robb Rowley, Ken Wiley, Maureen E. Smith, Adam Gordon, Gail P. Jarvik, Patrick Sleiman, Melissa A. Kelly, Harris T. Bland, Mullai Murugan, Eric Venner, Eric Boerwinkle, the eMERGE III consortium, Cynthia Prows, Lisa Mahanta, Heidi L. Rehm, Richard A. Gibbs, Donna M. Muzny
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-8 (2024)
Abstract Objective Data from DNA genotyping via a 96-SNP panel in a study of 25,015 clinical samples were utilized for quality control and tracking of sample identity in a clinical sequencing network. The study aimed to demonstrate the value of both
Externí odkaz:
https://doaj.org/article/3d38e5b62ab94770bb1d2b0b1ce48ef7
Autor:
Kate L. Thomson, Connie Jiang, Ebony Richardson, Dominik S. Westphal, Tobias Burkard, Cordula M. Wolf, Matteo Vatta, Steven M. Harrison, Jodie Ingles, Connie R. Bezzina, Brett M. Kroncke, Jamie I. Vandenberg, Chai-Ann Ng
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100270- (2024)
Summary: Long QT syndrome (LQTS), caused by the dysfunction of cardiac ion channels, increases the risk of sudden death in otherwise healthy young people. For many variants in LQTS genes, there is insufficient evidence to make a definitive genetic di
Externí odkaz:
https://doaj.org/article/45cd34fb97534a84883eace8c131e642
Autor:
Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-19 (2022)
Abstract Background The majority of clinical genetic testing focuses almost exclusively on regions of the genome that directly encode proteins. The important role of variants in non-coding regions in penetrant disease is, however, increasingly being
Externí odkaz:
https://doaj.org/article/592317068741464ab4f2701a8ccc78e4
Autor:
Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-12 (2022)
Abstract Background Identification of clinically significant genetic alterations involved in human disease has been dramatically accelerated by developments in next-generation sequencing technologies. However, the infrastructure and accessible compre
Externí odkaz:
https://doaj.org/article/c5ae77d69fae41bca5be493d02302150
Autor:
Nida S. Iqbal, Thomas A. Jascur, Steven M. Harrison, Angelena B. Edwards, Luke T. Smith, Erin S. Choi, Michelle K. Arevalo, Catherine Chen, Shaohua Zhang, Adam J. Kern, Angela E. Scheuerle, Emma J. Sanchez, Chao Xing, Linda A. Baker
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-16 (2020)
Abstract Background Prune belly syndrome (PBS) is a rare, multi-system congenital myopathy primarily affecting males that is poorly described genetically. Phenotypically, its morbidity spans from mild to lethal, however, all isolated PBS cases manife
Externí odkaz:
https://doaj.org/article/74d85c228ef64e70907eee3faaf5f8e8
Autor:
Nina B. Gold, Steven M. Harrison, Jared H. Rowe, Jessica Gold, Elissa Furutani, Alessandra Biffi, Christine N. Duncan, Akiko Shimamura, Leslie E. Lehmann, Robert C. Green
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100059- (2022)
Summary: Hematopoietic stem cell transplant (HSCT) can prevent progression of several genetic disorders. Although a subset of these disorders are identified on newborn screening panels, others are not identified until irreversible symptoms develop. G
Externí odkaz:
https://doaj.org/article/459ce8e8d0e049c39862d627d3f35655
Autor:
Sarah E. Brnich, Ahmad N. Abou Tayoun, Fergus J. Couch, Garry R. Cutting, Marc S. Greenblatt, Christopher D. Heinen, Dona M. Kanavy, Xi Luo, Shannon M. McNulty, Lea M. Starita, Sean V. Tavtigian, Matt W. Wright, Steven M. Harrison, Leslie G. Biesecker, Jonathan S. Berg, On behalf of the Clinical Genome Resource Sequence Variant Interpretation Working Group
Publikováno v:
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2019)
Abstract Background The American College of Medical Genetics and Genomics (ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines established criteria for different types of evidence. This includes the strong evide
Externí odkaz:
https://doaj.org/article/4407a9ebc41048f29d3325398d3b8d31
Autor:
Steven M. Harrison, Heidi L. Rehm
Publikováno v:
Genome Medicine, Vol 11, Iss 1, Pp 1-4 (2019)
Abstract In 2015, professional guidelines defined the term ‘likely pathogenic’ to mean with a 90% chance of pathogenicity. To determine whether current practice reflects this definition, ClinVar classifications were tracked from 2016 to 2019. Dur
Externí odkaz:
https://doaj.org/article/bcb86ff273ac491a8603747bb361ecea
Autor:
Steven M. Harrison, Nicol Corbin Bush, Yi Wang, Zachary R. Mucher, Armando J. Lorenzo, Gwen M. Grimsby, Bruce J. Schlomer, Erika E. Büllesbach, Linda A. Baker
Publikováno v:
Frontiers in Endocrinology, Vol 10 (2019)
Context: Insulin-like peptide 3 (INSL3), a protein hormone produced by Leydig cells, may play a crucial role in testicular descent as male INSL3 knockout mice have bilateral cryptorchidism. Previous studies have measured human fetal INSL3 levels in a
Externí odkaz:
https://doaj.org/article/2c0bc109ea8a492aa3f0945588aa716c
Autor:
Vikas Pejaver, Alicia B. Byrne, Bing-Jian Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell-Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Ahmad A. Tayoun, Jonathan S. Berg, Garry R. Cutting, Sian Ellard, Peter Kang, Izabela Karbassi, Jessica Mester, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Scott Topper
Publikováno v:
The American Journal of Human Genetics. 109:2163-2177
Recommendations from the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP) for interpreting sequence variants specify the use of computational predictors as "supporting" level of evidence for pat