未登录 Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 Cases 人工制品，而非性发育差异，是导致与产前游离DNA筛查表型性别不一致的主要因素：33例病例综述 Ding, Qiliang; Hoppman, Nicole L.; Thorland, Erik C.; Marcou, Cherisse A.; Boczek, Nicole J.; Kearney, Hutton M.; Strande, Natasha T.; Rowsey, Ross A. 分享 收藏
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Response to Spurdle et al Riggs, Erin R.; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa L. 分享 收藏
Clinical Validation of Tagmentation-Based Genome Sequencing for Germline Disorders Shen, Wei; Sellers, Heidi L.; Choate, Lauren A.; Stein, Mariam I.; Tandale, Pratyush P.; Tan, Jiayu; Setlem, Rohit; Sakai, Yuta; Fadra, Numrah; Sosa, Carlos; McClelland, Shawn P.; Barnett, Sarah S.; Rasmussen, Kristen J.; Runke, Cassandra K.; Smoley, Stephanie A.; Tillmans, Lori S.; Marcou, Cherisse A.; Rowsey, Ross A.; Thorland, Erik C.; Boczek, Nicole J.; Kearney, Hutton M. 分享 收藏
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) Raca, Gordana; Astbury, Caroline; Behlmann, Andrea; De Castro, Mauricio J.; E. Hickey, Scott; Karaca, Ender; Lowther, Chelsea; Rooney Riggs, Erin; A. Seifert, Bryce; C. Thorland, Erik; Deignan, Joshua L. 分享 收藏
Typical, atypical and cryptic t(15;17)(q24;q21) (PML::RARA) observed in acute promyelocytic leukemia: A retrospective review of 831 patients with concurrent chromosome and PML::RARA dual-color dual-fusion FISH studies Gagnon, Marie-France; Berg, Holly E.; Meyer, Reid G.; Sukov, William R.; Van Dyke, Daniel L.; Jenkins, Robert B.; Greipp, Patricia T.; Thorland, Erik C.; Hoppman, Nicole L.; Xu, Xinjie; Baughn, Linda B.; Reichard, Kaaren K.; Ketterling, Rhett P.; Peterson, Jess F. 分享 收藏
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Clinical validation of tagmentation-based genome sequencing for germline disorders Sellers, Heidi; Stein, Mariam; Tandale, Pratyush; Tan, Jiayu; Setlem, Rohit; Sakai, Yuta; Fadra, Numrah; Sosa, Carlos; McClelland, Shawn; Barnett, Sarah; Rasmussen, Kristen; Runke, Cassandra; Smoley, Stephanie; Katzmann, Emma; Tillmans, Lori; Marcou, Cherisse; Rowsey, Ross; Thorland, Erik; Boczek, Nicole; Kearney, Hutton; Shen, Wei 分享 收藏
Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) 解释和报告大范围的纯合子和可疑的血缘/单亲二体，2021修订: 美国医学遗传学和基因组学学院 (ACMG) 的技术标准 Gonzales, Patrick R.; Andersen, Erica F.; Brown, Teneille R.; Horner, Vanessa L.; Horwitz, Juli; Rehder, Catherine W.; Rudy, Natasha L.; Robin, Nathaniel H.; Thorland, Erik C. 分享 收藏
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classification 利用ClinGen基因疾病的有效性和剂量敏感性治疗来告知变异分类 Thaxton, Courtney; Good, Molly E.; DiStefano, Marina T.; Luo, Xi; Andersen, Erica F.; Thorland, Erik; Berg, Jonathan; Martin, Christa Lese; Rehm, Heidi L.; Riggs, Erin R. 分享 收藏
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) (vol 22, pg 245, 2020) Riggs, Erin Rooney; Andersen, Erica F.; Cherry, Athena M.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese 分享 收藏
RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features Palmer, Elizabeth E.; Carroll, Renee; Shaw, Marie; Kumar, Raman; Minoche, Andre E.; Leffler, Melanie; Murray, Lucinda; Macintosh, Rebecca; Wright, Dale; Troedson, Chris; McKenzie, Fiona; Townshend, Sharron; Ward, Michelle; Nawaz, Urwah; Ravine, Anja; Runke, Cassandra K.; Thorland, Erik C.; Hummel, Marybeth; Foulds, Nicola; Pichon, Olivier; Isidor, Bertrand; Le Caignec, Cedric; Demeer, Benedicte; Andrieux, Joris; Albarazi, Salam Hadah; Bye, Ann; Sachdev, Rani; Kirk, Edwin P.; Cowley, Mark J.; Field, Mike; Gecz, Jozef 分享 收藏
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Response to Maya et al. Riggs, Erin Rooney; Andersen, Erica F.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese 分享 收藏
Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community Tester, David J.; Bombei, Hannah M.; Fitzgerald, Kristi K.; Giudicessi, John R.; Pitel, Beth A.; Thorland, Erik C.; Russell, Barbara G.; Hamrick, Samantha K.; Kim, C. S. John; Haglund-Turnquist, Carla M.; Johnsrude, Christopher L.; Atkins, Dianne L.; Ochoa Nunez, Luis A.; Law, Ian; Temple, Joel; Ackerman, Michael J. 分享 收藏
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) 解释和报告宪法拷贝数变异的技术标准: 美国医学遗传学和基因组学学院 (ACMG) 和临床基因组资源 (ClinGen) 的联合共识建议 Riggs, Erin Rooney; Andersen, Erica F.; Cherry, Athena M.; Kantarci, Sibel; Kearney, Hutton; Patel, Ankita; Raca, Gordana; Ritter, Deborah I.; South, Sarah T.; Thorland, Erik C.; Pineda-Alvarez, Daniel; Aradhya, Swaroop; Martin, Christa Lese 分享 收藏
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Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar 使用ClinGen剂量敏感性图的拷贝数变异差异分辨率导致ClinVar中更新的临床解释 Riggs, Erin R.; Nelson, Tristan; Merz, Andrew; Ackley, Todd; Bunke, Brian; Collins, Christin D.; Collinson, Morag N.; Fan, Yao-Shan; Goodenberger, McKinsey L.; Golden, Denae M.; Haglund-Hazy, Linda; Krgovic, Danijela; Lamb, Allen N.; Lewis, Zoe; Li, Guang; Liu, Yajuan; Meck, Jeanne; Neufeld-Kaiser, Whitney; Runke, Cassandra K.; Sanmann, Jennifer N.; Stavropoulos, Dimitri J.; Strong, Emma; Su, Meng; Tayeh, Marwan K.; Vokac, Nadja Kokalj; Thorland, Erik C.; Andersen, Erica; Martin, Christa L. 分享 收藏
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies Redin, Claire; Brand, Harrison; Collins, Ryan L.; Kammin, Tammy; Mitchell, Elyse; Hodge, Jennelle C.; Hanscom, Carrie; Pillalamarri, Vamsee; Seabra, Catarina M.; Abbott, Mary-Alice; Abdul-Rahman, Omar A.; Aberg, Erika; Adley, Rhett; Alcaraz-Estrada, Sofia L.; Alkuraya, Fowzan S.; An, Yu; Anderson, Mary-Anne; Antolik, Caroline; Anyane-Yeboa, Kwame; Atkin, Joan F.; Bartell, Tina; Bernstein, Jonathan A.; Beyer, Elizabeth; Blumenthal, Ian; Bongers, Ernie M. H. F.; Brilstra, Eva H.; Brown, Chester W.; Bruggenwirth, Hennie T.; Callewaert, Bert; Chiang, Colby; Corning, Ken; Cox, Helen; Cuppen, Edwin; Currall, Benjamin B.; Cushing, Tom; David, Dezso; Deardorff, Matthew A.; Dheedene, Annelies; D'Hooghe, Marc; de Vries, Bert B. A.; Earl, Dawn L.; Ferguson, Heather L.; Fisher, Heather; FitzPatrick, David R.; Gerrol, Pamela; Giachino, Daniela; Glessner, Joseph T.; Gliem, Troy; Grady, Margo; Graham, Brett H.; Griffis, Cristin; Gripp, Karen W.; Gropman, Andrea L.; Hanson-Kahn, Andrea; Harris, David J.; Hayden, Mark A.; Hill, Rosamund; Hochstenbach, Ron; Hoffman, Jodi D.; Hopkin, Robert J.; Hubshman, Monika W.; Innes, A. Micheil; Irons, Mira; Irving, Melita; Jacobsen, Jessie C.; Janssens, Sandra; Jewett, Tamison; Johnson, John P.; Jongmans, Marjolijn C.; Kahler, Stephen G.; Koolen, David A.; Korzelius, Jerome; Kroisel, Peter M.; Lacassie, Yves; Lawless, William; Lemyre, Emmanuelle; Leppig, Kathleen; Levin, Alex V.; Li, Haibo; Li, Hong; Liao, Eric C.; Lim, Cynthia; Lose, Edward J.; Lucente, Diane; Macera, Michael J.; Manavalan, Poornima; Mandrile, Giorgia; Marcelis, Carlo L.; Margolin, Lauren; Mason, Tamara; Masser-Frye, Diane; McClellan, Michael W.; Mendoza, Cinthya J. Zepeda; Menten, Bjorn; Middelkamp, Sjors; Mikami, Liya R.; Moe, Emily; Mohammed, Shehla; Mononen, Tarja; Mortenson, Megan E.; Moya, Graciela; Nieuwint, Aggie W.; Ordulu, Zehra; Parkash, Sandhya; Pauker, Susan P.; Pereira, Shahrin; Perrin, Danielle; Phelan, Katy; Pina Aguilar, Raul E.; Poddighe, Pino J.; Pregno, Giulia; Raskin, Salmo; Reis, Linda; Rhead, William; Rita, Debra; Renkens, Ivo; Roelens, Filip; Ruliera, Jayla; Rump, Patrick; Schilit, Samantha L. P.; Shaheen, Ranad; Sparkes, Rebecca; Spiegel, Erica; Stevens, Blair; Stone, Matthew R.; Tagoe, Julia; Thakuria, Joseph V.; van Bon, Bregje W.; van de Kamp, Jiddeke; van Der Burgt, Ineke; van Essen, Ton; van Ravenswaaij-Arts, Conny M.; van Roosmalen, Markus J.; Vergult, Sarah; Volker-Touw, Catharina M. L.; Warburton, Dorothy P.; Waterman, Matthew J.; Wiley, Susan; Wilson, Anna; Yerena-de Vega, Maria de la Concepcion A.; Zori, Roberto T.; Levy, Brynn; Brunner, Han G.; de Leeuw, Nicole; Kloosterman, Wigard P.; Thorland, Erik C.; Morton, Cynthia C.; Gusella, James F.; Talkowski, Michael E. 分享 收藏
Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay 拷贝数变异对发育延迟相关基因的索引效应 Uddin, Mohammed; Pellecchia, Giovanna; Thiruvahindrapuram, Bhooma; D'Abate, Lia; Merico, Daniele; Chan, Ada; Zarrei, Mehdi; Tammimies, Kristiina; Walker, Susan; Gazzellone, Matthew J.; Nalpathamkalam, Thomas; Yuen, Ryan K. C.; Devriendt, Koenraad; Mathonnet, Geraldine; Lemyre, Emmanuelle; Nizard, Sonia; Shago, Mary; Joseph-George, Ann M.; Noor, Abdul; Carter, Melissa T.; Yoon, Grace; Kannu, Peter; Tihy, Frederique; Thorland, Erik C.; Marshall, Christian R.; Buchanan, Janet A.; Speevak, Marsha; Stavropoulos, Dimitri J.; Scherer, Stephen W. 分享 收藏
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