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Keyword: COPY-NUMBER VARIANTS
KBG SYNDROME
MUTATIONS
EPILEPSY
引用论文 被引论文 引用论文 Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease 全球罕见拷贝数变异对散发性先天性心脏病风险的贡献 Soemedi, Rachel; Wilson, Ian J.; Bentham, Jamie; Darlay, Rebecca; Toepf, Ana; Zelenika, Diana; Cosgrove, Catherine; Setchfield, Kerry; Thornborough, Chris; Granados-Riveron, Javier; Blue, Gillian M.; Breckpot, Jeroen; Hellens, Stephen; Zwolinkski, Simon; Glen, Elise; Mamasoula, Chrysovalanto; Rahman, Thahira J.; Hall, Darroch; Rauch, Anita; Devriendt, Koenraad; Gewillig, Marc; O' Sullivan, John; Winlaw, David S.; Bu'Lock, Frances; Brook, J. David; Bhattacharya, Shoumo; Lathrop, Mark; Santibanez-Koref, Mauro; Cordell, Heather J.; Goodship, Judith A.; Keavney, Bernard D. 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 分享 收藏 分享 收藏 分享 收藏 The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation Mallaret, Martial; Synofzik, Matthis; Lee, Jaeho; Sagum, Cari A.; Mahajnah, Muhammad; Sharkia, Rajech; Drouot, Nathalie; Renaud, Mathilde; Klein, Fabrice A. C.; Anheim, Mathieu; Tranchant, Christine; Mignot, Cyril; Mandel, Jean-Louis; Bedford, Mark; Bauer, Peter; Salih, Mustafa A.; Schuele, Rebecca; Schoels, Ludger; Aldaz, C. Marcelo; Koenig, Michel 分享 收藏 ClinVar: improving access to variant interpretations and supporting evidence ClinVar: 改善对变体解释和支持证据的访问 Landrum, Melissa J.; Lee, Jennifer M.; Benson, Mark; Brown, Garth R.; Chao, Chen; Chitipiralla, Shanmuga; Gu, Baoshan; Hart, Jennifer; Hoffman, Douglas; Jang, Wonhee; Karapetyan, Karen; Katz, Kenneth; Liu, Chunlei; Maddipatla, Zenith; Malheiro, Adriana; McDaniel, Kurt; Ovetsky, Michael; Riley, George; Zhou, George; Holmes, J. Bradley; Kattman, Brandi L.; Maglott, Donna R. 分享 收藏 分享 收藏 ClinGen - The Clinical Genome Resource ClinGen-临床基因组资源 Rehm, Heidi L.; Berg, Jonathan S.; Brooks, Lisa D.; Bustamante, Carlos D.; Evans, James P.; Landrum, Melissa J.; Ledbetter, David H.; Maglott, Donna R.; Martin, Christa Lese; Nussbaum, Robert L.; Plon, Sharon E.; Ramos, Erin M.; Sherry, Stephen T.; Watson, Michael S. 分享 收藏 Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia Sirmaci, Asli; Spiliopoulos, Michail; Brancati, Francesco; Powell, Eric; Duman, Duygu; Abrams, Alex; Bademci, Guney; Agolini, Emanuele; Guo, Shengru; Konuk, Berrin; Kavaz, Asli; Blanton, Susan; Digilio, Maria Christina; Dallapiccola, Bruno; Young, Juan; Zuchner, Stephan; Tekin, Mustafa 分享 收藏 查看更多内容
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GENETICS IN MEDICINE
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