نتائج البحث - "Erin Rooney Riggs"

المساهمون: Geisinger Autism & Developmental Medicine Institute [Danville, PA, USA] (ADMI), Drexel University, Invitae Corporation, Illumina, Baylor College of Medicine (BCM), Baylor University, Natera [San Carlos, CA, USA], Children’s Hospital Los Angeles [Los Angeles], Keck School of Medicine [Los Angeles], University of Southern California (USC), Columbia University Irving Medical Center (CUIMC), Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Broad Institute of MIT and Harvard (BROAD INSTITUTE), Harvard Medical School [Boston] (HMS)-Massachusetts Institute of Technology (MIT)-Massachusetts General Hospital [Boston], New York Medical College (NYMC), University of Illinois [Chicago] (UIC), University of Illinois System, National Human Genome Research Institute (NHGRI), University of the Witwatersrand [Johannesburg] (WITS), Université de Liège, Trillium Health Partners - Mississauga Hospital [Mississauga, ON, Canada] (THP-MH), University of Washington [Seattle], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), St. Michael's Hospital, The Hospital for sick children [Toronto] (SickKids), Garvan Institute of medical research, Warren Alpert Medical School of Brown University, University of California [Los Angeles] (UCLA), University of California (UC), The Jackson Laboratory [Bar Harbor] (JAX), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Neuroscience Paris Seine (NPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Heidelberg University Hospital [Heidelberg], This work was supported by the National Human Genome Research Institute of the National Institutes of Health under award number U24HG006834., Betancur, Catalina

المصدر: Genetics in Medicine
Genetics in Medicine, 2022, 24 (9), pp.1899-1908. ⟨10.1016/j.gim.2022.05.001⟩

مصطلحات موضوعية: ClinGen, MESH: Humans, Autism Spectrum Disorder, Autism, MESH: Autism Spectrum Disorder* / genetics, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Autism Spectrum Disorder* / diagnosis, MESH: Intellectual Disability* / diagnosis, MESH: Intellectual Disability* / genetics, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Neurodevelopmental Disorders, Intellectual Disability, MESH: Autistic Disorder* / genetics, MESH: Autistic Disorder* / diagnosis, Humans, Autistic Disorder, MESH: Neurodevelopmental Disorders* / genetics, Genetics (clinical), Gene–disease validity

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b07ead00b13dfac939c5dc9322d918b8Test
https://doi.org/10.1016/j.gim.2022.05.001Test

4

Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f29c4bf960436a14a71f2e122fe1b0f3Test
https://doi.org/10.1101/2023.03.30.23287948Test

5

Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)

المؤلفون: 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

المصدر: Genetics in Medicine. 25:100316

مصطلحات موضوعية: Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eefc8269fe3a923897926e8ff770eacTest
https://doi.org/10.1016/j.gim.2022.09.017Test

6

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

المؤلفون: 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

المساهمون: Wellcome Trust, British Heart Foundation

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 24(8)

مصطلحات موضوعية: Genetics & Heredity, GenCC, 0604 Genetics, Genetic Variation, 1103 Clinical Sciences, Genomics, Gene curation, Database, Genetic diagnosis, The Gene Curation Coalition, Databases, Genetic, Humans, Genetic Testing, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db382453c45f9da4d860229092aac16cTest
https://pubmed.ncbi.nlm.nih.gov/35507016Test

7

Variant interpretation is a component of clinical practice among genetic counselors in multiple specialties

المؤلفون: 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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::567824276783984928fa8da124a40fbbTest
https://doi.org/10.1038/s41436-019-0705-9Test

8

Technical standards for the interpretation and reporting of constitutional copy number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)

المؤلفون: 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

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::388f33a8f8bdbeecfa12b659e8e76c82Test
http://europepmc.org/articles/PMC7313390Test

9

Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification

المؤلفون: 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

المصدر: Human mutation. 43(8)

مصطلحات موضوعية: medicine.diagnostic_test, DNA Copy Number Variations, Mechanism (biology), Genome, Human, Genetic Variation, Disease, Computational biology, Genomics, Biology, Genome, Resource (project management), Genetics, medicine, Humans, Copy-number variation, Genetic Testing, Haploinsufficiency, Gene, Genetics (clinical), Genetic testing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0016581ab3c53c0e217bc2c87e47f68aTest
https://pubmed.ncbi.nlm.nih.gov/34694049Test

10

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics)

المؤلفون: 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

المساهمون: Human genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Nisselle, Amy, Janinski, Monika, Martyn, Melissa, McClaren, Belinda, Suppiah, Vijayaprakash, Gaff, Clara

المصدر: 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-xTest

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36babd396b3903ce4d8d01c36b6e34b8Test
https://research.vumc.nl/en/publications/7c35738c-35fe-4f01-8d9a-19fa064d5daeTest

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