未登录 Bipolar At-Risk Criteria and Risk of Bipolar Disorder Over 10 or More Years Ratheesh, Aswin; Hammond, Dylan; Watson, Michael; Betts, Jennifer; Siegel, Emma; Mcgorry, Patrick; Berk, Michael; Cotton, Susan; Chanen, Andrew; Nelson, Barnaby; Bechdolf, Andreas 分享 收藏
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel 庞贝病的变异分类; ClinGen溶酶体病变异治疗专家小组的ACMG/AMP规范 Goldstein, Jennifer L.; Mcglaughon, Jennifer; Kanavy, Dona; Goomber, Shelly; Pan, Yinghong; Deml, Brett; Donti, Taraka; Kearns, Liz; Seifert, Bryce A.; Schachter, Miriam; Son, Rachel G.; Thaxton, Courtney; Udani, Rupa; Bali, Deeksha; Baudet, Heather; Caggana, Michele; Hung, Christina; Kyriakopoulou, Lianna; Rosenblum, Lynne; Steiner, Robert; Pinto e Vairo, Filippo; Wang, Yang; Watson, Michael; Fernandez, Raquel; Weaver, Meredith; Clarke, Lorne; Rehder, Catherine 分享 收藏
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Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG) Miller, David T.; Lee, Kristy; Gordon, Adam S.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Chung, Wendy K.; Gollob, Michael H.; Harrison, Steven M.; Herman, Gail E.; Hershberger, Ray E.; Klein, Teri E.; McKelvey, Kent; Richards, C. Sue; Vlangos, Christopher N.; Stewart, Douglas R.; Watson, Michael S.; Martin, Christa Lese 分享 收藏
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) (Aug, 2021, 10.1038/s41436-021-01172-3) Miller, David T.; Lee, Kristy; Chung, Wendy K.; Gordon, Adam S.; Herman, Gail E.; Klein, Teri E.; Stewart, Douglas R.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; McKelvey, Kent; Richards, C. Sue; Vlangos, Christopher N.; Watson, Michael S.; Martin, Christa Lese 分享 收藏
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) Miller, David T.; Lee, Kristy; Chung, Wendy K.; Gordon, Adam S.; Herman, Gail E.; Klein, Teri E.; Stewart, Douglas R.; Amendola, Laura M.; Adelman, Kathy; Bale, Sherri J.; Gollob, Michael H.; Harrison, Steven M.; Hershberger, Ray E.; McKelvey, Kent; Richards, C. Sue; Vlangos, Christopher N.; Watson, Michael S.; Martin, Christa Lese 分享 收藏
The 2019 US medical genetics workforce: a focus on clinical genetics Jenkins, Brittany D.; Fischer, Catherine G.; Polito, Curt A.; Maiese, Deborah R.; Keehn, Alisha S.; Lyon, Megan; Edick, Mathew J.; Taylor, Matthew R. G.; Andersson, Hans C.; Bodurtha, Joann N.; Blitzer, Miriam G.; Muenke, Maximilian; Watson, Michael S. 分享 收藏
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG) Bean, Lora J. H.; Scheuner, Maren T.; Murray, Michael F.; Biesecker, Leslie G.; Green, Robert C.; Monaghan, Kristin G.; Palomaki, Glenn E.; Sharp, Richard R.; Trotter, Tracy L.; Watson, Michael S.; Powell, Cynthia M. 分享 收藏
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG) Murray, Michael F.; Giovanni, Monica A.; Doyle, Debra L.; Harrison, Steven M.; Lyon, Elaine; Manickam, Kandamurugu; Monaghan, Kristin G.; Rasmussen, Sonja A.; Scheuner, Maren T.; Palomaki, Glenn E.; Watson, Michael S. 分享 收藏
Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG) South, Sarah T.; McClure, Michelle; Astbury, Caroline; Bashford, Michael T.; Benkendorf, Judith; Esplin, Edward D.; Monaghan, Kristin G.; Oglesbee, Devin; Sutton, V. Reid; Watson, Michael S. 分享 收藏
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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future 临床基因组资源 (ClinGen) 临床领域工作组的发展: 经验教训和未来计划 Milko, Laura, V; Funke, Birgit H.; Hershberger, Ray E.; Azzariti, Danielle R.; Lee, Kristy; Riggs, Erin R.; Rivera-Munoz, Edgar A.; Weaver, Meredith A.; Niehaus, Annie; Currey, Erin L.; Craigen, William J.; Mao, Rong; Offit, Kenneth; Steiner, Robert D.; Martin, Christa L.; Rehm, Heidi L.; Watson, Michael S.; Ramos, Erin M.; Plon, Sharon E.; Berg, Jonathan S. 分享 收藏
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) Kishnani, Priya S.; Goldstein, Jennifer; Austin, Stephanie L.; Arn, Pamela; Bachrach, Bert; Bali, Deeksha S.; Chung, Wendy K.; Ei-Gharbawy, Areeg; Brown, Laurie M.; Kahler, Stephen; Pendyal, Surekha; Ross, Katalin M.; Tsilianidis, Laurie; Weinstein, David A.; Watson, Michael S. 分享 收藏
Including ELSI research questions in newborn screening pilot studies 将ELSI研究问题纳入新生儿筛查试点研究 Goldenberg, Aaron J.; Lloyd-Puryear, Michele; Brosco, Jeffrey P.; Therrell, Bradford; Bush, Lynn; Berry, Susan; Brower, Amy; Bonhomme, Natasha; Bowdish, Bruce; Chrysler, Denise; Clarke, Angus; Crawford, Thomas; Goldman, Edward; Hiner, Sally; Howell, R. Rodney; Orren, David; Wilfond, Benjamin S.; Watson, Michael 分享 收藏
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation ClinGen变体管理专家小组的经验和疾病的标准化过程以及ACMG/AMP序列变体解释指南的基因水平规范 Rivera-Munoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa M.; Martin, Christa L.; Plon, Sharon E.; Ramos, Erin; Rehm, Heidi L.; Watson, Michael; Berg, Jonathan S. 分享 收藏
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene 先天性代谢错误 (IEM) 的序列变异解释的独特方面: ClinGen IEM工作组和苯丙氨酸羟化酶基因 Zastrow, Diane B.; Baudet, Heather; Shen, Wei; Thomas, Amanda; Si, Yue; Weaver, Meredith A.; Lager, Angela M.; Liu, Jixia; Mangels, Rachel; Dwight, Selina S.; Wright, Matt W.; Dobrowolski, Steven F.; Eilbeck, Karen; Enns, Gregory M.; Feigenbaum, Annette; Lichter-Konecki, Uta; Lyon, Elaine; Pasquali, Marzia; Watson, Michael; Blau, Nenad; Steiner, Robert D.; Craigen, William J.; Mao, Rong 分享 收藏
Creating a data resource: what will it take to build a medical information commons? Deverka, Patricia A.; Majumder, Mary A.; Villanueva, Angela G.; Anderson, Margaret; Bakker, Annette C.; Bardill, Jessica; Boerwinkle, Eric; Bubela, Tania; Evans, Barbara J.; Garrison, Nanibaa' A.; Gibbs, Richard A.; Gentleman, Robert; Glazer, David; Goldstein, Melissa M.; Greely, Hank; Harris, Crane; Knoppers, Bartha M.; Koenig, Barbara A.; Kohane, Isaac S.; La Rosa, Salvatore; Mattison, John; O'Donnell, Christopher J.; Rai, Arti K.; Rehm, Heidi L.; Rodriguez, Laura L.; Shelton, Robert; Simoncelli, Tania; Terry, Sharon F.; Watson, Michael S.; Wilbanks, John; Cook-Deegan, Robert; McGuire, Amy L. 分享 收藏
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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (vol 15, pg 565, 2013) Green, Robert C.; Berg, Jonathan S.; Grody, Wayne W.; Kalia, Sarah S.; Korf, Bruce R.; Martin, Christa L.; McGuire, Amy L.; Nussbaum, Robert L.; O'Daniel, Julianne M.; Ormond, Kelly E.; Rehm, Heidi L.; Watson, Michael S.; Williams, Marc S.; Biesecker, Leslie G. 分享 收藏
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