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AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2018, Volume 34, Issue S1, pp. 1 - 407
Journal Article
by Sullivan, Patrick and Yuan, Maoli and Coleman, John and Destefano, Joanne and Zhang, Xinsheng and Yates, Nicole and Barouch, Dan and Ackerman, Margaret and Decamp, Allan and Alter, Galit and Tomaras, Georgia and Tomaras, Georgia and Montefiori, David and Montefiori, David and Rasmussen, Beth and Morrow, Gavin and Koff, Wayne and Kashuba, Angela and Kashuba, Angela and Mascola, John and Picker, Louis and Kent, Stephen and Selhorst, Philippe and Masson, Lindi and Ngandu, Nobubelo and Rademeyer, Cecilia and Karim, Quarraisha Abdool and Kijak, Gustavo and Barouch, Dan and Rasheed, Ata Ur and Havenar-Daughton, Colin and Pham, Matthew and Kovalenkov, Yevgeniy and Gumber, Sanjeev and Johnson, Matthew and Wrammert, Jens and Villinger, Francois and Haynes, Barton and Haynes, Barton and Fox, Christopher and Reed, Steve and Vasilakos, John and Tomai, Mark and Crotty, Shane and Ahmed, Rafi and Pulendran, Bali and Fukazawa, Yoshinori and Lifson, Jeffrey and Lifson, Jeffrey and Moore, Penny and Chatora, Kumbirai and Skorochod, Elisabeth and Madidi, Ngonidzashe and Gomez, Anabel and Ncube, Getrude and Sundaram, Maaya and Kretschmer, Steve and Pauthner, Matthias and Briney, Bryan and Lee, Jeong Hyun and Saye-Francisco, Karen and Hsueh, Jessica and Ramos, Alejandra and Le, Khoa and Jones, Meaghan and Jardine, Joseph and Bastidas, Raiza and Sarkar, Anita and Liang, Chi-Hui and Wilson, Ian and Ward, Andrew and Zhu, Jiang and Poignard, Pascal and Burton, Dennis and Krebs, Shelly and Law, Wiliam and Gift, Syna and Chenine, Agnes and Rolland, Morgane and Moody, M. Anthony and Jarosinski, Marissa and Georgiev, Ivelin and Chuang, Gwo-Yu and Chuang, Gwo-Yu and Asokan, Mangaiarkarasi and Bailer, Robert T and Cale, Evan M and Louder, Mark and Kwong, Peter D and Polonis, Victoria and Tovanabutra, Sodsai and Robb, Merlin and Mascola, John R and Wibmer, Constantinos Kurt and Wibmer, Constantinos Kurt and Madzorera, Vimbai S and Doria-Rose, Nicole A and Morris, Lynn and Moore, Penny L and Anthony, Colin and ...
AIDS Research and Human Retroviruses, ISSN 0889-2229, 10/2016, Volume 32, Issue S1, pp. 1 - 409
Journal Article
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Mutation | Index Medicus
Journal Article
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | Bioinformatics | Index Medicus | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
Journal Article
Journal Article
by Anttila, Verneri and Bulik-Sullivan, Brendan and Finucane, Hilary K and Walters, Raymond K and Bras, Jose and Duncan, Laramie and Escott-Price, Valentina and Falcone, Guido J and Gormley, Padhraig and Malik, Rainer and Patsopoulos, Nikolaos A and Ripke, Stephan and Wei, Zhi and Yu, Dongmei and Lee, Phil H and Turley, Patrick and Grenier-Boley, Benjamin and Chouraki, Vincent and Kamatani, Yoichiro and Berr, Claudine and Letenneur, Luc and Hannequin, Didier and Amouyel, Philippe and Boland, Anne and Deleuze, Jean-François and Duron, Emmanuelle and Vardarajan, Badri N and Reitz, Christiane and Goate, Alison M and Huentelman, Matthew J and Ilyas Kamboh, M and Larson, Eric B and Rogaeva, Ekaterina and George-Hyslop, Peter St and Hakonarson, Hakon and Kukull, Walter A and Farrer, Lindsay A and Barnes, Lisa L and Beach, Thomas G and Yesim Demirci, F and Head, Elizabeth and Hulette, Christine M and Jicha, Gregory A and Kauwe, John S.K and Kaye, Jeffrey A and Leverenz, James B and Levey, Allan I and Lieberman, Andrew P and Pankratz, Vernon S and Poon, Wayne W and Quinn, Joseph F and Saykin, Andrew J and Schneider, Lon S and Smith, Amanda G and Sonnen, Joshua A and Stern, Robert A and Van Deerlin, Vivianna M and Van Eldik, Linda J and Harold, Denise and Russo, Giancarlo and Rubinsztein, David C and Bayer, Anthony and Tsolaki, Magda and Proitsi, Petra and Fox, Nick C and Hampel, Harald and Owen, Michael J and Mead, Simon and Passmore, Peter and Morgan, Kevin and Nöthen, Markus M and Rossor, Martin and Lupton, Michelle K and Hoffmann, Per and Kornhuber, Johannes and Lawlor, Brian and McQuillin, Andrew and Al-Chalabi, Ammar and Bis, Joshua C and Ruiz, Agustin and Boada, Mercè and Seshadri, Sudha and Beiser, Alexa and Rice, Kenneth and Van Der Lee, Sven J and De Jager, Philip L and Geschwind, Daniel H and Riemenschneider, Matthias and Riedel-Heller, Steffi and Rotter, Jerome I and Ransmayr, Gerhard and Hyman, Bradley T and Cruchaga, Carlos and Alegret, Montserrat and Winsvold, Bendik and Palta, Priit and Farh, Kai-How and Cuenca-Leon, Ester and Furlotte, Nicholas and Kurth, Tobias and ... and Brainstorm Consortium and The Brainstorm Consortium
Science, ISSN 0036-8075, 06/2018, Volume 360, Issue 6395, pp. 1313 - 1313
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We... 
ANOREXIA-NERVOSA | POPULATION-BASED TWIN | DEFICIT HYPERACTIVITY DISORDER | LONG-TERM SURVIVAL | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | GENETIC CORRELATIONS | BODY-MASS INDEX | MAJOR DEPRESSIVE DISORDER | BIPOLAR DISORDER | GENOME-WIDE ASSOCIATION | Genetic Variation | Mental Disorders - genetics | Genome-Wide Association Study | Phenotype | Brain Diseases - classification | Quantitative Trait, Heritable | Brain Diseases - diagnosis | Humans | Mental Disorders - classification | Risk Factors | Brain Diseases - genetics | Mental Disorders - diagnosis | Anorexia | Disorders | Cognitive ability | Bipolar disorder | Posttraumatic stress disorder | Mental depression | Epidemiology | Risk factors | Consortia | Proteins | Ischemia | Etiology | Classification | Gilles de la Tourette syndrome | Alzheimer's disease | Neurological disorders | Neurodegenerative diseases | Comorbidity | Behavior disorders | Anorexia nervosa | Risk analysis | Patients | Neurological diseases | Correlation analysis | Heritability | Attention deficit disorder | Headache | Mental disorders | Medical services | Schizophrenia | Risk sharing | Genomes | Heterogeneity | Biological effects | Risk assessment | Stroke | Phenotypes | Migraine | Attention deficit hyperactivity disorder | Eating disorders | Personality | Genetic diversity | Statistics | Activity patterns | Crohn's Disease | Population (statistical) | Scaffolding | Diagnostic systems | Alzheimers disease | Index Medicus | Life Sciences | Human health and pathology | Mental Disorders | Neurons and Cognition | Brain Diseases | Genetics
Journal Article
Journal of Allergy and Clinical Immunology, The, ISSN 0091-6749, 2016, Volume 139, Issue 2, pp. AB186 - AB186
  Rationale Adoptive immunotherapy using virus-specific T-lymphocytes (VSTs) has been successful in preventing or treating viral infections after hematopoietic... 
Allergy and Immunology | ALLERGY | IMMUNOLOGY | T cells | Antiviral agents | Immunotherapy | Adenoviruses | Viral infections
Journal Article
by Shashi, Vandana and Geist, Janelle and Lee, Youngha and Yoo, Yongjin and Shin, Unbeom and Schoch, Kelly and Sullivan, Jennifer and Stong, Nicholas and Smith, Edward and Jasien, Joan and Kranz, Peter and Lee, Yoonsung and Shin, Yong Beom and Wright, Nathan T and Choi, Murim and Kontrogianni‐Konstantopoulos, Aikaterini and Acosta, Maria T and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Bademci, Guney and Baker, Eva and Balasubramanyam, Ashok and Baldridge, Dustin and Barbouth, Deborah and Batzli, Gabriel F and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bivona, Stephanie and Bonnenmann, Carsten and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Carrasquillo, Olveen and Chang, Ta Chen Peter and Chao, Hsiao‐Tuan and Clark, Gary D and Coakley, Terra R and Cobban, Laurel A and Cogan, Joy D and Cole, F. Sessions and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D'Souza, Precilla and Dasari, Surendra and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell'Angelica, Esteban C and Dhar, Shweta U and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Forghani, Irman and Friedman, Noah D and Gahl, William A and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gourdine, Jean‐Philippe F and Grajewski, Alana and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and High, Frances and Holm, Ingrid A and ... and Undiagnosed Dis Network
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. 1115 - 1126
Encoding the slow skeletal muscle isoform of myosin binding protein‐C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The... 
arthrogryposis | tremor | MYBPC1 | myosin binding protein‐C | myopathy | hypotonia | BINDING-PROTEIN-C | DIFFERENTIAL EXPRESSION | myosin binding protein-C | GENETICS | SLOW | GENETICS & HEREDITY | MUTATIONS | Wildlife conservation | Analysis | Myosin | Muscles | Genetic aspects | Muscle proteins | Protein binding | Musculoskeletal system | Phenotypes | Actomyosin | Tremor | Arthrogryposis | Muscle contraction | Skeletal muscle | Myopathy | Index Medicus
Journal Article
02/2019
JHEP 05 (2019) 088 This paper presents the combinations of single-top-quark production cross-section measurements by the ATLAS and CMS Collaborations, using... 
Physics - High Energy Physics - Experiment
Journal Article
by Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, John A and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Muzny, Donna M and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Emrick, Lisa T and Rosenfeld, Jill A and Postlethwait, John H and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and ... and Univ Washington Ctr Mendelian and Undiagnosed Dis Network and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 422 - 438
SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a... 
TONSL | exome sequencing | DNA replication | SPONASTRIME dysplasia | DNA repair | skeletal dysplasia | RECOMBINATION | READ ALIGNMENT | MMS22L-TONSL COMPLEX | REPLICATION | CHROMATIN | STABILITY | MUTATION | GENETICS & HEREDITY | MMS22L-NFKBIL2 COMPLEX | FRAMEWORK | PREDICTION | Physiological aspects | Dysplasia | Genetic aspects | Research | Genetic variation | Risk factors
Journal Article