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收藏Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B)脊髓小脑性共济失调 (SCA27B) 的大型美国队列的临床，放射学和病理学特征
Abou Chaar, Widad; Eranki, Anirudh N.; Stevens, Hannah A.; Watson, Sonya L.; Wong, Darice Y.; Avila, Veronica S.; Delfeld, Megan; Gary, Alexander J.; Tawde, Sanjukta; Triebold, Malia; Cherchi, Marcello; Xie, Tao; Lockhart, Paul J.; Bahlo, Melanie; Pellerin, David; Dicaire, Marie-Josee; Danzi, Matt; Zuchner, Stephan; Brais, Bernard C.; Perlman, Susan; Burmeister, Margit; Paulson, Henry; Srinivasan, Sharan; Schut, Lawrence; Bower, Matthew; Bushara, Khalaf; Liao, Chuanhong; Shakkottai, Vikram G.; Collins, John; Clark, H. Brent; Das, Soma; Fogel, Brent L.; Gomez, Christopher M. 分享 收藏 Expedited evaluation of hereditary hematopoietic malignancies in the setting of stem cell transplantationRoloff, Gregory W.; Kosuri, Satyajit; Nawas, Mariam T.; Duvall, Adam S.; Patel, Anand A.; Riedell, Peter A.; Odenike, Olatoyosi; Stock, Wendy; Larson, Richard A.; Bishop, Michael R.; Nunley, Emma; Godley, Lucy A.; Hathaway, Feighanne; del Gaudio, Daniela; Das, Soma; Canham, Lorraine E.; Drazer, Michael W. 分享 收藏 Allogeneic hematopoietic stem cell transplant outcomes in adults with inherited myeloid malignancies成人遗传性髓系恶性肿瘤的异基因造血干细胞移植结局Saygin, Caner; Roloff, Gregory; Hahn, Christopher N.; Chhetri, Rakchha; Gill, Saar; Elmariah, Hany; Talati, Chetasi; Nunley, Emma; Gao, Guimin; Kim, Aelin; Bishop, Michael; Kosuri, Satyajit; Das, Soma; Singhal, Deepak; Venugopal, Parvathy; Homan, Claire C.; Brown, Anna; Scott, Hamish S.; Hiwase, Devendra; Godley, Lucy A. 分享 收藏 分享 收藏 Feasibility and limitations of cultured skin fibroblasts for germline genetic testing in hematologic disorders培养的皮肤成纤维细胞用于血液病种系基因检测的可行性和局限性DeRoin, Lia; de Andrade Silva, Marcela Cavalcante; Petras, Kristin; Arndt, Kelly; Phillips, Nathaniel; Wanjari, Pankhuri; Subramanian, Hari Prasanna; Montes, David; McElherne, James; Theissen, Megan; Briese, Renee; Das, Soma; Godley, Lucy A.; Segal, Jeremy; del Gaudio, Daniela; Fitzpatrick, Carrie; Churpek, Jane E. 分享 收藏 Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methodsClinGen Rett/Angelman类专家小组对基因特异性变体解释方法的建议McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma 分享 收藏 分享 收藏 Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Rehder, Catherine; Bean, Lora J. H.; Bick, David; Chao, Elizabeth; Chung, Wendy; Das, Soma; O'Daniel, Julianne; Rehm, Heidi; Shashi, Vandana; Vincent, Lisa M. 分享 收藏 Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancerSinghal, Deepak; Hahn, Christopher N.; Feurstein, Simone; Wee, Li Yan A.; Moma, Luke; Kutyna, Monika M.; Chhetri, Rakchha; Eshraghi, Leila; Schreiber, Andreas W.; Feng, Jinghua; Wang, Paul P-S; Babic, Milena; Parker, Wendy T.; Gao, Song; Moore, Sarah; Das, Soma; Thomas, David; Pattnaik, Swetansu; Brown, Anna L.; D'Andrea, Richard J.; Poplawski, Nicola K.; Thomas, Daniel; Scott, Hamish S.; Godley, Lucy A.; Hiwase, Devendra K. 分享 收藏 Germline variants drive myelodysplastic syndrome in young adults种系变异导致年轻人的骨髓增生异常综合征Feurstein, Simone; Churpek, Jane E.; Walsh, Tom; Keel, Sioban; Hakkarainen, Marja; Schroeder, Thomas; Germing, Ulrich; Geyh, Stefanie; Heuser, Michael; Thol, Felicitas; Pohlkamp, Christian; Haferlach, Torsten; Gao, Juehua; Owen, Carolyn; Goehring, Gudrun; Schlegelberger, Brigitte; Verma, Divij; Krause, Daniela S.; Gao, Guimin; Cronin, Tara; Gulsuner, Suleyman; Lee, Ming; Pritchard, Colin C.; Subramanian, Hari Prasanna; del Gaudio, Daniela; Li, Zejuan; Das, Soma; Kilpivaara, Outi; Wartiovaara-Kautto, Ulla; Wang, Eunice S.; Griffiths, Elizabeth A.; Dohner, Konstanze; Dohner, Hartmut; King, Mary-Claire; Godley, Lucy A. 分享 收藏 Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentationsFeurstein, Simone; Adegunsoye, Ayodeji; Mojsilovic, Danijela; Vij, Rekha; DePersia, Allison H. West; Rajagopal, Padma Sheila; Osman, Afaf; Collins, Robert H.; Kim, Raymond H.; Gore, Steven D.; Greenberg, Peter; Godley, Lucy A.; Li, Zejuan; del Gaudio, Daniela; Subramanian, Hari Prasanna; Das, Soma; Walsh, Tom; Gulsuner, Suleyman; Segal, Jeremy P.; Husain, Aliya N.; Gurbuxani, Sandeep; King, Mary-Claire; Strek, Mary E.; Churpek, Jane E. 分享 收藏 Prevalence of RFC1-mediated spinocerebellar ataxia in a North American ataxia cohortAboud Syriani, Dona; Wong, Darice; Andani, Sameer; De Gusmao, Claudio M.; Mao, Yuanming; Sanyoura, May; Glotzer, Giacomo; Lockhart, Paul J.; Hassin-Baer, Sharon; Khurana, Vikram; Gomez, Christopher M.; Perlman, Susan; Das, Soma; Fogel, Brent L. 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals (vol 21, pg 262, 2019)Yap, Kai Lee; Johnson, Amy E. Knight; Fischer, David; Kandikatla, Priscilla; Deml, Jacea; Nelakuditi, Viswateja; Halbach, Sara; Jeha, George S.; Burrage, Lindsay C.; Bodamer, Olaf; Benavides, Valeria C.; Lewis, Andrea M.; Ellard, Sian; Shah, Pratik; Cody, Declan; Diaz, Alejandro; Devarajan, Aishwarya; Truong, Lisa; Greeley, Siri Atma W.; De Leon, Diva D.; Edmondson, Andrew C.; Das, Soma; Thornton, Paul; Waggoner, Darrel; del Gaudio, Daniela 分享 收藏 Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes靶向外显子组分析确定了超过50% 名具有广泛共济失调相关表型的患者的疾病遗传基础Sun, Miao; Johnson, Amy Knight; Nelakuditi, Viswateja; Guidugli, Lucia; Fischer, David; Arndt, Kelly; Ma, Lan; Sandford, Erin; Shakkottai, Vikram; Boycott, Kym; Chardon, Jodi Warman; Li, Zejuan; del Gaudio, Daniela; Burmeister, Margit; Gomez, Christopher M.; Waggoner, Darrel J.; Das, Soma 分享 收藏 Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individualsYap, Kai Lee; Johnson, Amy E. Knight; Fischer, David; Kandikatla, Priscilla; Deml, Jacea; Nelakuditi, Viswateja; Halbach, Sara; Jeha, George S.; Burrage, Lindsay C.; Bodamer, Olaf; Benavides, Valeria C.; Lewis, Andrea M.; Ellard, Sian; Shah, Pratik; Cody, Declan; Diaz, Alejandro; Devarajan, Aishwarya; Truong, Lisa; Greeley, Siri Atma W.; De Leo-Crutchlow, Diva D.; Edmondson, Andrew C.; Das, Soma; Thornton, Paul; Waggoner, Darrel; del Gaudio, Daniela 分享 收藏 
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