Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Erin Rooney, Riggs"'
Autor:
Dustin Baldridge, Levi Kaster, Catherine Sancimino, Siddharth Srivastava, Sophie Molholm, Aditi Gupta, Inez Oh, Virginia Lanzotti, Daleep Grewal, Erin Rooney Riggs, Juliann M. Savatt, Rachel Hauck, Abigail Sveden, the Brain Gene Registry Consortium, John N. Constantino, Joseph Piven, Christina A. Gurnett, Maya Chopra, Heather Hazlett, Philip R. O. Payne
Publikováno v:
Journal of Neurodevelopmental Disorders, Vol 16, Iss 1, Pp 1-14 (2024)
Abstract Monogenic disorders account for a large proportion of population-attributable risk for neurodevelopmental disabilities. However, the data necessary to infer a causal relationship between a given genetic variant and a particular neurodevelopm
Externí odkaz:
https://doaj.org/article/c91cc2f5915d408b8ccfe4e165650b1d
Autor:
Erin Rooney Riggs, Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret Bostwick, Alison Bright, Chun-An Chen, Amanda R. Clause, Avinash V. Dharmadhikari, Mythily Ganapathi, Claudia Gonzaga-Jauregui, Andrew R. Grant, Madeline Y. Hughes, Se Rin Kim, Amanda Krause, Jun Liao, Aimé Lumaka, Michelle Mah, Caitlin M. Maloney, Shruthi Mohan, Ikeoluwa A. Osei-Owusu, Emma Reble, Olivia Rennie, Juliann M. Savatt, Hermela Shimelis, Rebecca K. Siegert, Tam P. Sneddon, Courtney Thaxton, Kelly A. Toner, Kien Trung Tran, Ryan Webb, Emma H. Wilcox, Jiani Yin, Xinming Zhuo, Masa Znidarsic, Christa Lese Martin, Catalina Betancur, Jacob A.S. Vorstman, David T. Miller, Christian P. Schaaf
Publikováno v:
Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩
International audience; Purpose: Neurodevelopmental disorders (NDDs), such as intellectual disability (ID) and autism spectrum disorder (ASD), exhibit genetic and phenotypic heterogeneity, making them difficult to differentiate without a molecular di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8
https://doi.org/10.1016/j.gim.2022.05.001
https://doi.org/10.1016/j.gim.2022.05.001
Autor:
Angharad M Roberts, Marina T. DiStefano, Erin Rooney Riggs, Katherine S Josephs, Fowzan S Alkuraya, Joanna Amberger, Mutaz Amin, Jonathan S. Berg, Fiona Cunningham, Karen Eilbeck, Helen V. Firth, Julia Foreman, Ada Hamosh, Eleanor Hay, Sarah Leigh, Christa L. Martin, Ellen M. McDonagh, Daniel Perrett, Erin M. Ramos, Peter N. Robinson, Ana Rath, David van Sant, Zornitza Stark, Nicola Whiffin, Heidi L. Rehm, James S. Ware
PURPOSEThe terminology used for gene-disease curation and variant annotation to describe inheritance, allelic requirement, and both sequence and functional consequences of a variant is currently not standardized. There is considerable discrepancy in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3
https://doi.org/10.1101/2023.03.30.23287948
https://doi.org/10.1101/2023.03.30.23287948
Autor:
Christa Lese Martin, Juliann M. Savatt, Amy K. Johnson, Deborah I. Ritter, Erin Rooney Riggs, Julianne M. O’Daniel, Patti Krautscheid, Karen E. Wain, Jennifer L. Goldstein, Brianna Lepore, Danielle R. Azzariti
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Purpose: Genomic testing is routinely utilized across clinical settings and can have significant variant interpretation challenges. The extent of genetic counselor (GC) engagement in variant interpretation in clinical practice is unknown. This study
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567824276783984928fa8da124a40fbb
https://doi.org/10.1038/s41436-019-0705-9
https://doi.org/10.1038/s41436-019-0705-9
Autor:
Gordana, Raca, Caroline, Astbury, Andrea, Behlmann, Mauricio J, De Castro, Scott E, Hickey, Ender, Karaca, Chelsea, Lowther, Erin Rooney, Riggs, Bryce A, Seifert, Erik C, Thorland, Joshua L, Deignan
Publikováno v:
Genetics in Medicine. 25:100316
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefc8269fe3a923897926e8ff770eac
https://doi.org/10.1016/j.gim.2022.09.017
https://doi.org/10.1016/j.gim.2022.09.017
Autor:
Marina T. DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin, Christina Austin-Tse, Marie Balzotti, Jonathan S. Berg, Ewan Birney, Carol Bocchini, Elspeth A. Bruford, Alison J. Coffey, Heather Collins, Fiona Cunningham, Louise C. Daugherty, Yaron Einhorn, Helen V. Firth, David R. Fitzpatrick, Rebecca E. Foulger, Jennifer Goldstein, Ada Hamosh, Matthew R. Hurles, Sarah E. Leigh, Ivone US. Leong, Sateesh Maddirevula, Christa L. Martin, Ellen M. McDonagh, Annie Olry, Arina Puzriakova, Kelly Radtke, Erin M. Ramos, Ana Rath, Erin Rooney Riggs, Angharad M. Roberts, Charlotte Rodwell, Catherine Snow, Zornitza Stark, Jackie Tahiliani, Susan Tweedie, James S. Ware, Phillip Weller, Eleanor Williams, Caroline F. Wright, T Michael. Yates, Heidi L. Rehm
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)
PURPOSESeveral groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a ge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16c
https://pubmed.ncbi.nlm.nih.gov/35507016
https://pubmed.ncbi.nlm.nih.gov/35507016
Autor:
Heidi L. Rehm, Molly Good, Courtney Thaxton, Erik C. Thorland, Xi Luo, Erin Rooney Riggs, Christa Lese Martin, Erica F. Andersen, Jonathan S. Berg, Marina T. DiStefano
Publikováno v:
Human mutation. 43(8)
Understanding whether there is enough evidence to implicate a gene's role in a given disease, as well as the mechanisms by which variants in this gene might cause this disease, are essential in order to determine clinical relevance. The National Inst
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0016581ab3c53c0e217bc2c87e47f68a
https://pubmed.ncbi.nlm.nih.gov/34694049
https://pubmed.ncbi.nlm.nih.gov/34694049
Autor:
Sylvia A Metcalfe, Andrew Mallett, Bronwyn Terrill, Ken Knight, Edward S. Tobias, Martina C. Cornel, Gunjan Garg, Debra Graves, Ingrid B. Sinnerbrink, Vajira H. W. Dissanayake, Kristine Barlow-Stewart, Helen Jordan, Kate Dunlop, June C. Carroll, Tina-Marié Wessels, Andrea Belcher, Nicola Mulder, Jane Maguire, Russell Gear, Emma Tonkin, Chirag Patel, Amy Nisselle, Dhavendra Kumar, Steve Trumble, Maria C. McCarthy, Alison McEwen, Kate Reed, Nadia Kaunein, Mercy Y. Laurino, Catherine Quinlan, Belinda J McClaren, Bruce R. Korf, Clara Gaff, Michelle Bishop, Monika Janinski, Anne Slavotinek, Vijayaprakash Suppiah, Melissa Martyn, John A. Bernat, Alan Ma, Erin Rooney Riggs, Agnes E. Dodds, Stephanie Best
Publikováno v:
Genetics in Medicine, 23(7), 1356-1365. Lippincott Williams and Wilkins
Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ' Ensuring best practice in genomics education and evaluation : reporting item standards for education and its evaluation in genomics (RISE2 Genomics) ', Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365 . https://doi.org/10.1038/s41436-021-01140-x
Reporting Item Standards for Education and its Evaluation in Genomics Expert Group 2021, ' Ensuring best practice in genomics education and evaluation : reporting item standards for education and its evaluation in genomics (RISE2 Genomics) ', Genetics in Medicine, vol. 23, no. 7, pp. 1356-1365 . https://doi.org/10.1038/s41436-021-01140-x
PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36babd396b3903ce4d8d01c36b6e34b8
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5dae
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5dae
Autor:
Athena M. Cherry, Hutton M. Kearney, Swaroop Aradhya, Erica F. Andersen, Gordana Raca, Sibel Kantarci, Erik C. Thorland, Deborah I. Ritter, Sarah T. South, Erin Rooney Riggs, Ankita Patel, Christa Lese Martin, Daniel E. Pineda-Alvarez
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
Copy-number analysis to detect disease-causing losses and gains across the genome is recommended for the evaluation of individuals with neurodevelopmental disorders and/or multiple congenital anomalies, as well as for fetuses with ultrasound abnormal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::388f33a8f8bdbeecfa12b659e8e76c82
http://europepmc.org/articles/PMC7313390
http://europepmc.org/articles/PMC7313390
Autor:
Robert D. Steiner, Birgit Funke, Laura V. Milko, Jonathan S. Berg, Ray E. Hershberger, Danielle R. Azzariti, Meredith A. Weaver, Christa Lese Martin, Kristy Lee, William J. Craigen, Michael S. Watson, Edgar A. Rivera-Munoz, Erin Currey, Erin M. Ramos, Rong Mao, Sharon E. Plon, Erin Rooney Riggs, Heidi L. Rehm, Annie Niehaus, Kenneth Offit
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
The Clinical Genome Resource (ClinGen) is supported by the National Institutes of Health (NIH) to develop expertly curated and freely accessible resources defining the clinical relevance of genes and variants for use in precision medicine and researc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a92338093d3e298c749e53c3ae68a4f0
https://doi.org/10.1038/s41436-018-0267-2
https://doi.org/10.1038/s41436-018-0267-2