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Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas Pemov, Alexander; Dewan, Ramita; Hansen, Nancy F.; Chandrasekharappa, Settara C.; Ray-Chaudhury, Abhik; Jones, Kristine; Luo, Wen; Heiss, John D.; Mullikin, James C.; Chittiboina, Prashant; Stewart, Douglas R.; Asthagiri, Ashok R. 分享 收藏
A robust benchmark for detection of germline large deletions and insertions (Jun, 10.1038/s41587-020-0538-8, 2020) 用于检测种系大缺失和插入的稳健基准 (6月，10.1038/s41587-020-0538-8，2020) Zook, Justin M.; Hansen, Nancy F.; Olson, Nathan D.; Chapman, Lesley; Mullikin, James C.; Xiao, Chunlin; Sherry, Stephen; Koren, Sergey; Phillippy, Adam M.; Boutros, Paul C.; Sahraeian, Sayed Mohammad E.; Huang, Vincent; Rouette, Alexandre; Alexander, Noah; Mason, Christopher E.; Hajirasouliha, Iman; Ricketts, Camir; Lee, Joyce; Tearle, Rick; Fiddes, Ian T.; Barrio, Alvaro Martinez; Wala, Jeremiah; Carroll, Andrew; Ghaffari, Noushin; Rodriguez, Oscar L.; Bashir, Ali; Jackman, Shaun; Farrell, John J.; Wenger, Aaron M.; Alkan, Can; Soylev, Arda; Schatz, Michael C.; Garg, Shilpa; Church, George; Marschall, Tobias; Chen, Ken; Fan, Xian; English, Adam C.; Rosenfeld, Jeffrey A.; Zhou, Weichen; Mills, Ryan E.; Sage, Jay M.; Davis, Jennifer R.; Kaiser, Michael D.; Oliver, John S.; Catalano, Anthony P.; Chaisson, Mark J. P.; Spies, Noah; Sedlazeck, Fritz J.; Salit, Marc 分享 收藏
A robust benchmark for detection of germline large deletions and insertions 用于检测种系大缺失和插入的可靠基准 Zook, Justin M.; Hansen, Nancy F.; Olson, Nathan D.; Chapman, Lesley; Mullikin, James C.; Xiao, Chunlin; Sherry, Stephen; Koren, Sergey; Phillippy, Adam M.; Boutros, Paul C.; Sahraeian, Sayed Mohammad E.; Huang, Vincent; Rouette, Alexandre; Alexander, Noah; Mason, Christopher E.; Hajirasouliha, Iman; Ricketts, Camir; Lee, Joyce; Tearle, Rick; Fiddes, Ian T.; Barrio, Alvaro Martinez; Wala, Jeremiah; Carroll, Andrew; Ghaffari, Noushin; Rodriguez, Oscar L.; Bashir, Ali; Jackman, Shaun; Farrell, John J.; Wenger, Aaron M.; Alkan, Can; Soylev, Arda; Schatz, Michael C.; Garg, Shilpa; Church, George; Marschall, Tobias; Chen, Ken; Fan, Xian; English, Adam C.; Rosenfeld, Jeffrey A.; Zhou, Weichen; Mills, Ryan E.; Sage, Jay M.; Davis, Jennifer R.; Kaiser, Michael D.; Oliver, John S.; Catalano, Anthony P.; Chaisson, Mark J. P.; Spies, Noah; Sedlazeck, Fritz J.; Salit, Marc 分享 收藏
Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas Pemov, Alexander; Hansen, Nancy F.; Sindiri, Sivasish; Patidar, Rajesh; Higham, Christine S.; Dombi, Eva; Miettinen, Markku M.; Fetsch, Patricia; Brems, Hilde; Chandrasekharappa, Settara C.; Jones, Kristine; Zhu, Bin; Wei, Jun S.; Mullikin, James C.; Wallace, Margaret R.; Khan, Javed; Legius, Eric; Widemann, Brigitte C.; Stewart, Douglas R. 分享 收藏
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Identifying early genetic steps in malignant transformation of neurofibromatosis type 1-associated plexiform neurofibromas Pemov, Alexander; Hansen, Nancy F.; Patidar, Rajesh; Higham, Christine; Dombi, Eva; Boland, Joseph F.; Chandrasekharappa, Settara C.; Mullikin, James C.; Wallace, Margaret; Khan, Javed; Legius, Eric; Widemann, Brigitte; Stewart, Douglas R. 分享 收藏
Somatic Mutation Profiles of Clear Cell Endometrial Tumors Revealed by Whole Exome and Targeted Gene Sequencing Le Gallo, Matthieu; Rudd, Meghan L.; Urick, Mary Ellen; Hansen, Nancy F.; Zhang, Suiyuan; Lozy, Fred; Sgroi, Dennis C.; Bel, August Vidal; Matias-Guiu, Xavier; Broaddus, Russell R.; Lu, Karen H.; Levine, Douglas A.; Mutch, David G.; Goodfellow, Paul J.; Salvesen, Helga B.; Mullikin, James C.; Bell, Daphne W. 分享 收藏
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iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations Kwon, Erika M.; Connelly, John P.; Hansen, Nancy F.; Donovan, Frank X.; Winkler, Thomas; Davis, Brian W.; Alkadi, Halah; Chandrasekharappa, Settara C.; Dunbar, Cynthia E.; Mullikin, James C.; Liu, Paul 分享 收藏
The primacy of NF1 loss as the driver of tumorigenesis in neurofibromatosis type 1-associated plexiform neurofibromas Pemov, A.; Li, H.; Patidar, R.; Hansen, N. F.; Sindiri, S.; Hartley, S. W.; Wei, J. S.; Elkahloun, A.; Chandrasekharappa, S. C.; Boland, J. F.; Bass, S.; Mullikin, J. C.; Khan, J.; Widemann, B. C.; Wallace, M. R.; Stewart, D. R. 分享 收藏
Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia Sood, R.; Hansen, N. F.; Donovan, F. X.; Carrington, B.; Bucci, D.; Maskeri, B.; Young, A.; Trivedi, N. S.; Kohlschmidt, J.; Stone, R. M.; Caligiuri, M. A.; Chandrasekharappa, S. C.; Marcucci, G.; Mullikin, J. C.; Bloomfield, C. D.; Liu, P. 分享 收藏
An Enhancer Polymorphism at the Cardiomyocyte Intercalated Disc Protein NOS1AP Locus Is a Major Regulator of the QT Interval Kapoor, Ashish; Sekar, Rajesh B.; Hansen, Nancy F.; Fox-Talbot, Karen; Morley, Michael; Pihur, Vasyl; Chatterjee, Sumantra; Brandimarto, Jeffrey; Moravec, Christine S.; Pulit, Sara L.; Pfeufer, Arne; Mullikin, Jim; Ross, Mark; Green, Eric D.; Bentley, David; Newton-Cheh, Christopher; Boerwinkle, Eric; Tomaselli, Gordon F.; Cappola, Thomas P.; Arking, Dan E.; Halushka, Marc K.; Chakravarti, Aravinda 分享 收藏
Gene-Based Sequencing Identifies Lipid-Influencing Variants with Ethnicity-Specific Effects in African Americans Bentley, Amy R.; Chen, Guanjie; Shriner, Daniel; Doumatey, Ayo P.; Zhou, Jie; Huang, Hanxia; Mullikin, James C.; Blakesley, Robert W.; Hansen, Nancy F.; Bouffard, Gerard G.; Cherukuri, Praveen F.; Maskeri, Baishali; Young, Alice C.; Adeyemo, Adebowale; Rotimi, Charles N. 分享 收藏
Mutational Signatures of De-Differentiation in Functional Non-Coding Regions of Melanoma Genomes Parker, Stephen C. J.; Gartner, Jared; Cardenas-Navia, Isabel; Wei, Xiaomu; Abaan, Hatice Ozel; Ajay, Subramanian S.; Hansen, Nancy F.; Song, Lingyun; Bhanot, Umesh K.; Killian, J. Keith; Gindin, Yevgeniy; Walker, Robert L.; Meltzer, Paul S.; Mullikin, James C.; Furey, Terrence S.; Crawford, Gregory E.; Rosenberg, Steven A.; Samuels, Yardena; Margulies, Elliott H. 分享 收藏
Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-angliosidosis Pierson, Tyler Mark; Adams, David A.; Markello, Thomas; Golas, Gretchen; Yang, Sandra; Sincan, Murat; Simeonov, Dimitre R.; Fajardo, Karin Fuentes; Hansen, Nancy F.; Cherukuri, Praveen F.; Cruz, Pedro; Teer, Jamie K.; Mullikin, James C.; Gahl, William A.; Tifft, Cynthia J. 分享 收藏
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases Pierson, Tyler Mark; Adams, David; Bonn, Florian; Martinelli, Paola; Cherukuri, Praveen F.; Teer, Jamie K.; Hansen, Nancy F.; Cruz, Pedro; Mullikin, James C.; Blakesley, Robert W.; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fajardo, Karin Fuentes; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I.; Langer, Thomas; Gahl, William A.; Toro, Camilo 分享 收藏
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum Davis, Erica E.; Zhang, Qi; Liu, Qin; Diplas, Bill H.; Davey, Lisa M.; Hartley, Jane; Stoetzel, Corinne; Szymanska, Katarzyna; Ramaswami, Gokul; Logan, Clare V.; Muzny, Donna M.; Young, Alice C.; Wheeler, David A.; Cruz, Pedro; Morgan, Margaret; Lewis, Lora R.; Cherukuri, Praveen; Maskeri, Baishali; Hansen, Nancy F.; Mullikin, James C.; Blakesley, Robert W.; Bouffard, Gerard G.; Gyapay, Gabor; Rieger, Susanne; Toenshoff, Burkhard; Kern, Ilse; Soliman, Neveen A.; Neuhaus, Thomas J.; Swoboda, Kathryn J.; Kayserili, Hulya; Gallagher, Tomas E.; Lewis, Richard A.; Bergmann, Carsten; Otto, Edgar A.; Saunier, Sophie; Scambler, Peter J.; Beales, Philip L.; Gleeson, Joseph G.; Maher, Eamonn R.; Attie-Bitach, Tania; Dollfus, Helene; Johnson, Colin A.; Green, Eric D.; Gibbs, Richard A.; Hildebrandt, Friedhelm; Pierce, Eric A.; Katsanis, Nicholas 分享 收藏
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