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A guide for social science journal editors on easing into open science 社会科学期刊编辑关于开放科学的指南 Silverstein, Priya; Elman, Colin; Montoya, Amanda; McGillivray, Barbara; Pennington, Charlotte R.; Harrison, Chase H.; Steltenpohl, Crystal N.; Roeer, Jan Philipp; Corker, Katherine S.; Charron, Lisa M.; Elsherif, Mahmoud; Malicki, Mario; Hayes-Harb, Rachel; Grinschgl, Sandra; Neal, Tess; Evans, Thomas Rhys; Karhulahti, Veli-Matti; Krenzer, William L. D.; Belaus, Anabel; Moreau, David; Burin, Debora I.; Chin, Elizabeth; Plomp, Esther; Mayo-Wilson, Evan; Lyle, Jared; Adler, Jonathan M.; Bottesini, Julia G.; Lawson, Katherine M.; Schmidt, Kathleen; Reneau, Kyrani; Vilhuber, Lars; Waltman, Ludo; Gernsbacher, Morton Ann; Plonski, Paul E.; Ghai, Sakshi; Grant, Sean; Christian, Thu-Mai; Ngiam, William; Syed, Moin 分享 收藏
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Redefining the Etiologic Landscape of Cerebellar Malformations Aldinger, Kimberly A.; Timms, Andrew E.; Thomson, Zachary; Mirzaa, Ghayda M.; Bennett, James T.; Rosenberg, Alexander B.; Roco, Charles M.; Hirano, Matthew; Abidi, Fatima; Haldipur, Parthiv; Cheng, Chi, V; Collins, Sarah; Park, Kaylee; Zeiger, Jordan; Overmann, Lynne M.; Alkuraya, Fowzan S.; Biesecker, Leslie G.; Braddock, Stephen R.; Cathey, Sara; Cho, Megan T.; Chung, Brian H. Y.; Everman, David B.; Zarate, Yuri A.; Jones, Julie R.; Schwartz, Charles E.; Goldstein, Amy; Hopkin, Robert J.; Krantz, Ian D.; Ladda, Roger L.; Leppig, Kathleen A.; McGillivray, Barbara C.; Sell, Susan; Wusik, Katherine; Gleeson, Joseph G.; Nickerson, Deborah A.; Bamshad, Michael J.; Gerrelli, Dianne; Lisgo, Steven N.; Seelig, Georg; Ishak, Gisele E.; Barkovich, A. James; Curry, Cynthia J.; Glass, Ian A.; Millen, Kathleen J.; Doherty, Dan; Dobyns, William B. 分享 收藏
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Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy Brodehl, Andreas; Ferrier, Raechel A.; Hamilton, Sara J.; Greenway, Steven C.; Brundler, Marie-Anne; Yu, Weiming; Gibson, William T.; McKinnon, Margaret L.; McGillivray, Barbara; Alvarez, Nanette; Giuffre, Michael; Schwartzentruber, Jeremy; Gerull, Brenda 分享 收藏
Expanding the Clinical Phenotype of Hereditary BAP1 Cancer Predisposition Syndrome, Reporting Three New Cases Pilarski, Robert; Cebulla, Colleen M.; Massengill, James B.; Rai, Karan; Rich, Thereasa; Strong, Louise; McGillivray, Barbara; Asrat, Mary-Jill; Davidorf, Frederick H.; Abdel-Rahman, Mohamed H. 分享 收藏
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Exome Sequencing Identifies SMAD3 Mutations as a Cause of Familial Thoracic Aortic Aneurysm and Dissection With Intracranial and Other Arterial Aneurysms Regalado, Ellen S.; Guo, Dong-chuan; Villamizar, Carlos; Avidan, Nili; Gilchrist, Dawna; McGillivray, Barbara; Clarke, Lorne; Bernier, Francois; Santos-Cortez, Regie L.; Leal, Suzanne M.; Bertoli-Avella, Aida M.; Shendure, Jay; Rieder, Mark J.; Nickerson, Deborah A.; Milewicz, Dianna M. 分享 收藏
Understanding the impact of 1q21.1 copy number variant Harvard, Chansonette; Strong, Emma; Mercier, Eloi; Colnaghi, Rita; Alcantara, Diana; Chow, Eva; Martell, Sally; Tyson, Christine; Hrynchak, Monica; McGillivray, Barbara; Hamilton, Sara; Marles, Sandra; Mhanni, Aziz; Dawson, Angelika J.; Pavlidis, Paul; Qiao, Ying; Holden, Jeanette J.; Lewis, Suzanne M. E.; O'Driscoll, Mark; Rajcan-Separovic, Evica 分享 收藏
Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome McLarren, Keith W.; Severson, Tesa M.; du Souich, Christele; Stockton, David W.; Kratz, Lisa E.; Cunningham, David; Hendson, Glenda; Morin, Ryan D.; Wu, Diane; Paul, Jessica E.; An, Jianghong; Nelson, Tanya N.; Chou, Athena; DeBarber, Andrea E.; Merkens, Louise S.; Michaud, Jacques L.; Waters, Paula J.; Yin, Jingyi; McGillivray, Barbara; Demos, Michelle; Rouleau, Guy A.; Grzeschik, Karl-Heinz; Smith, Raffaella; Tarpey, Patrick S.; Shears, Debbie; Schwartz, Charles E.; Gecz, Jozef; Stratton, Michael R.; Arbour, Laura; Hurlburt, Jane; Van Allen, Margot I.; Herman, Gail E.; Zhao, Yongjun; Moore, Richard; Kelley, Richard I.; Jones, Steven J. M.; Steiner, Robert D.; Raymond, F. Lucy; Marra, Marco A.; Boerkoel, Cornelius F. 分享 收藏
The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies 通过对人类节段性三体性的高分辨率分析揭示的唐氏综合症表型的遗传结构 Korbel, Jan O.; Tirosh-Wagner, Tal; Urban, Alexander Eckehart; Chen, Xiao-Ning; Kasowski, Maya; Dai, Li; Grubert, Fabian; Erdman, Chandra; Gao, Michael C.; Lange, Ken; Sobel, Eric M.; Barlow, Gillian M.; Aylsworth, Arthur S.; Carpenter, Nancy J.; Clark, Robin Dawn; Cohen, Monika Y.; Doran, Eric; Falik-Zaccai, Tzipora; Lewin, Susan O.; Lott, Ira T.; McGillivray, Barbara C.; Moeschler, John B.; Pettenati, Mark J.; Pueschel, Siegfried M.; Rao, Kathleen W.; Shaffer, Lisa G.; Shohat, Mordechai; Van Riper, Alexander J.; Warburton, Dorothy; Weissman, Sherman; Gerstein, Mark B.; Snyder, Michael; Korenberg, Julie R. 分享 收藏
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization Friedman, J. M.; Adam, Shelin; Arbour, Laura; Armstrong, Linlea; Baross, Agnes; Birch, Patricia; Boerkoel, Cornelius; Chan, Susanna; Chai, David; Delaney, Allen D.; Flibotte, Stephane; Gibson, William T.; Langlois, Sylvie; Lemyre, Emmanuelle; Li, H. Irene; MacLeod, Patrick; Mathers, Joan; Michaud, Jacques L.; McGillivray, Barbara C.; Patel, Millan S.; Qian, Hong; Rouleau, Guy A.; Van Allen, Margot I.; Yong, Siu-Li; Zahir, Farah R.; Eydoux, Patrice; Marra, Marco A. 分享 收藏
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Menten, Bjorn; Buysse, Karen; Zahir, Farah; Hellemans, Jan; Hamilton, Sara J.; Costa, Teresa; Fagerstrom, Carrie; Anadiotis, George; Kingsbury, Daniel; McGillivray, Barbara C.; Marra, Marco A.; Friedman, Jan M.; Speleman, Frank; Mortier, Geert 分享 收藏
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1 Rajcan-Separovic, E.; Harvard, C.; Liu, X.; McGillivray, B.; Hall, J. G.; Qiao, Y.; Hurlburt, J.; Hildebrand, J.; Mickelson, E. C. R.; Holden, J. J. A.; Lewis, M. E. S. 分享 收藏
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation Friedman, J. M.; Baross, Agnes; Delaney, Allen D.; Ally, Adrian; Arbour, Laura; Asano, Jennifer; Bailey, Dione K.; Barber, Sarah; Birch, Patricia; Brown-John, Mabel; Cao, Manqiu; Chan, Susanna; Charest, David L.; Farnoud, Noushin; Fernandes, Nicole; Flibotte, Stephane; Go, Anne; Gibson, William T.; Holt, Robert A.; Jones, Steven J. M.; Kennedy, Giulia C.; Krzywinski, Martin; Langlois, Sylvie; Li, Haiyan I.; McGillivray, Barbara C.; Nayar, Tarun; Pugh, Trevor J.; Rajcan-Separovic, Evica; Schein, Jacqueline E.; Schnerch, Angelique; Siddiqui, Asim; Van Allen, Margot I.; Wilson, Gary; Yong, Siu-Li; Zahir, Farah; Eydoux, Patrice; Marra, Marco A. 分享 收藏
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