Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Science Translational Medicine

Volumn 9, Issue 386, 2017, Pages

  Cummings, Beryl B ^a,b,c,p   Marshall, Jamie L ^a,b   Tukiainen, Taru ^a,b,p   Lek, Monkol ^a,b,d,e,p   Donkervoort, Sandra ^f   Foley, A Reghan ^f   Bolduc, Veronique ^f   Waddell, Leigh B ^d,e   Sandaradura, Sarah A ^d,e   O'Grady, Gina L ^d,e   Estrella, Elicia ^g   Reddy, Hemakumar M ^h   Zhao, Fengmei ^a,b   Weisburd, Ben ^a,b   Karczewski, Konrad J ^a,b   O'Donnell Luria, Anne H ^a,b   Birnbaum, Daniel ^a,b   Sarkozy, Anna ⁱ   Hu, Ying ^f   Gonorazky, Hernan ^j   Claeys, Kristl ^k   Joshi, Himanshu ^e   Bournazos, Adam ^d,e   Oates, Emily C ^d,e   Ghaoui, Roula ^d,e   Davis, Mark R ^l   Laing, Nigel G ^l,m   Topf, Ana ⁿ   Kang, Peter B ^g,h   Beggs, Alan H ^g   North, Kathryn N ^o   Straub, Volker ⁿ   Dowling, James J ^j   Muntoni, Francesco ⁱ   Clarke, Nigel F ^d,e   Cooper, Sandra T ^d,e   Bönnemann, Carsten G ^f   MacArthur, Daniel G ^a,b,p   Ardlie, Kristin G ^p   Getz, Gad ^c,p   Gelfand, Ellen T ^p   Segrè, Ayellet V ^p   Aguet, François ^p   Sullivan, Timothy J ^p   Li, Xiao ^p   Nedzel, Jared L ^p   Trowbridge, Casandra A ^p   Hadley, Kane ^p   Huang, Katherine H ^p   Noble, Michael S ^p   Nguyen, Duyen T ^p   Nobel, Andrew B ^s   Wright, Fred A ^t   Shabalin, Andrey A ^u   Palowitch, John J ^s   Zhou, Yi Hui ^t   Dermitzakis, Emmanouil T ^v,w,x   McCarthy, Mark I ^y,z,aa   Payne, Anthony J ^ab   Lappalainen, Tuuli ^t,u   Castel, Stephane ^t,u   Kim Hellmuth, Sarah ^t,u   Mohammadi, Pejman ^t,u   Battle, Alexis ^s   Parsana, Princy ^s   Mostafavi, Sara ^t   Brown, Andrew ^v,w,x   Ongen, Halit ^v,w,x   Delaneau, Olivier ^v,w,x   Panousis, Nikolaos ^v,w,x   Howald, Cedric ^v,w,x   Van De Bunt, Martijn ^y,z   Guigo, Roderic ^af,ag,ah   Monlong, Jean ^af,ag,ai   Reverter, Ferran ^af,aj   Garrido, Diego ^af,ag   Munoz, Manuel ^af,ag   Bogu, Gireesh ^af,ag   Sodaei, Reza ^af,ag   Papasaikas, Panagiotis ^af,ag   Ndungu, Anne W ^y   Montgomery, Stephen B ^ac,ak   Li, Xin ^ak   Fresard, Laure ^ak   Davis, Joe R ^ak   Tsang, Emily K ^ak   Zappala, Zachary ^ak   Abell, Nathan S ^ak   Gloudemans, Michael J ^ak   Liu, Boxiang ^ak   Damani, Farhan N ^ad   Saha, Ashis ^ad   Kim, Yungil ^ad   Strober, Benjamin J ^ae   He, Yuan ^am   Stephens, Matthew ^al   Pritchard, Jonathan K ^ak,al,an   Wen, Xiaoquan ^ao   Urbut, Sarah ^al   Cox, Nancy J ^ap,aq   Nicolae, Dan L ^al   Gamazon, Eric R ^ap,aq   Im, Hae Kyung ^al   Brown, Christopher D ^ar   Engelhardt, Barbara E ^as   Park, YoSon ^ar   Jo, Brian ^at   McDowell, Ian C ^au   Gewirtz, Ariel ^at   Gliner, Genna ^as   Conrad, Don ^av   Hall, Ira ^ak,av   Chiang, Colby ^av   Scott, Alexandra ^av   Sabatti, Chiara ^ak   Eskin, Eleazar ^aw   Peterson, Christine ^ax   Hormozdiari, Farhad ^ay   Kang, Eun Yong ^ay   Mangul, Serghei ^ay   Han, Buhm ^az   Sul, Jae Hoon ^aw   Feinberg, Andrew P ^ba   Rizzardi, Lindsay F ^ba   Hansen, Kasper D ^ba   Hickey, Peter ^bb   Akey, Joshua ^bc   Kellis, Manolis ^p,bd   Li, Jin Billy ^ak   Snyder, Michael ^ak   Tang, Hua ^ak   Jiang, Lihua ^ak   Lin, Shin ^ak,be   Stranger, Barbara E ^bf   Fernando, Marian ^bf   Oliva, Meritxell ^bf   Stamatoyannopoulos, John ^bh   Kaul, Rajinder ^bh   Halow, Jessica ^bh   Sandstrom, Richard ^bh   Haugen, Eric ^bh   Johnson, Audra ^bh   Lee, Kristen ^bh   Bates, Daniel ^bh   Diegel, Morgan ^bh   Pierce, Brandon L ^al   Chen, Lin ^al   Kibriya, Muhammad G ^al   Jasmine, Farzana ^al   Doherty, Jennifer ^bi   Demanelis, Kathryn ^al   Smith, Kevin S ^ak   Li, Qin ^ak   Zhang, Rui ^ak   Nierras, Concepcion R ^bj   Moore, Helen M ^bk   Rao, Abhi ^bk   Guan, Ping ^bk   Vaught, Jimmie B ^bk   Branton, Philip A ^bk   Carithers, Latarsha J ^bl   Volpi, Simona ^bm   Struewing, Jeffery P ^bm   Martin, Casey G ^bm   Nicole, Lockhart C ^bm   Koester, Susan E ^bn   Addington, Anjene M ^bn   Little, A Roger ^bo   Leinweber, William F ^bp   Thomas, Jeffrey A ^bp   Kopen, Gene ^bp   McDonald, Alisa ^bp   Mestichelli, Bernadette ^bp   Shad, Saboor ^bp   Lonsdale, John T ^bp   Salvatore, Michael ^bp   Hasz, Richard ^bq   Walters, Gary ^br   Johnson, Mark ^br   Washington, Michael ^br   Brigham, Lori E ^bs   Johns, Christopher ^bt   Wheeler, Joseph ^bt   Roe, Brian ^bu   Hunter, Marcus ^bu   Myer, Kevin ^bu   Foster, Barbara A ^bv   Moser, Michael T ^bv   Karasik, Ellen ^bv   Gillard, Bryan M ^bv   Kumar, Rachna ^bv   Bridge, Jason ^bw   Miklos, Mark ^bw   Jewell, Scott D ^bw   Rohrer, Daniel C ^bx   Valley, Dana ^bx   Montroy, Robert G ^bx   Mash, Deborah C ^by   Davis, David A ^by   Undale, Anita H ^bz   Smith, Anna M ^ca   Tabor, David E ^ca   Roche, Nancy V ^ca   McLean, Jeffrey A ^ca   Vatanian, Negin ^ca   Robinson, Karna L ^ca   Sobin, Leslie ^ca   Barcus, Mary E ^ca   Valentino, Kimberly M ^ca   Qi, Liqun ^ca   Hunter, Stephen ^ca   Hariharan, Pushpa ^ca   Singh, Shilpi ^ca   Um, Ki Sung ^ca   Matose, Takunda ^ca   Tomadzewski, Maria M ^ca   Siminoff, Laura A ^cb   Traino, Heather M ^cb   Mosavel, Maghboeba ^u   Barker, Laura K ^cb   Zerbino, Daniel R ^cc   Juettmann, Thomas ^cc   Taylor, Kieron ^cc   Ruffier, Magali ^cc   Sheppard, Dan ^cc   Trevanion, Steven ^cc   Flicek, Paul ^cc   Kent, W James ^cd   Rosenbloom, Kate R ^cd   Haeussler, Maximilian ^cd   Lee, Christopher M ^cd   Paten, Benedict ^cd   Vivan, John ^cd   Zhu, Jingchun ^cd   Goldman, Mary ^cd   Craft, Brian ^cd   Li, Gen ^ce   Ferreira, Pedro G ^cf,cg   Yeger Lotem, Esti ^ch   Maurano, Matthew T ^ci   Barshir, Ruth ^ci   Basha, Omer ^ci   Xi, Hualin S ^ac   Quan, Jie ^bg   Sammeth, Michael ^r   Zaugg, Judith B ^q   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d UNIVERSITY OF SYDNEY   (Australia)

^e CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^f NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY OF FLORIDA COLLEGE OF MEDICINE   (United States)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j HOSPITAL FOR SICK CHILDREN   (Canada)

^k UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^l PATHWEST LABORATORY MEDICINE   (Australia)

^m UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

ⁿ NEWCASTLE UNIVERSITY   (United Kingdom)

^o ROYAL CHILDREN'S HOSPITAL   (Australia)

^p BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^q EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^r FEDERAL UNIVERSITY OF RIO DE JANEIRO   (Brazil)

^s University of North Carolina at Chapel Hill   (United States)

^t NORTH CAROLINA STATE UNIVERSITY   (United States)

^u VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^v UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^w UNIVERSITY OF GENEVA   (Switzerland)

^x SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^y UNIVERSITY OF OXFORD   (United Kingdom)

^z UNIVERSITY OF OXFORD   (United Kingdom)

^aa CHURCHILL HOSPITAL   (United Kingdom)

^ab NEW YORK GENOME CENTER   (United States)

^ac NewYork Presbyterian Hospital   (United States)

^ad Johns Hopkins University   (United States)

^ae Stanford University   (United States)

^af Center for Genomic Regulation   (Spain)

^ag UNIVERSITAT POMPEU FABRA   (Spain)

^ah INST MUNIC D INVESTIGACIO MEDICA   (Spain)

^ai MCGILL UNIVERSITY   (Canada)

^aj UNIVERSITY OF BARCELONA   (Spain)

^ak STANFORD UNIVERSITY   (United States)

^al UNIVERSITY OF CHICAGO   (United States)

^am Johns Hopkins University   (United States)

^an HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^ao UNIVERSITY OF MICHIGAN   (United States)

^ap VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^aq UNIVERSITY OF AMSTERDAM   (Netherlands)

^ar UNIVERSITY OF PENNSYLVANIA   (United States)

^as Princeton University   (United States)

^at PRINCETON UNIVERSITY   (United States)

^au DUKE UNIVERSITY   (United States)

^av WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^aw UNIVERSITY OF CALIFORNIA   (United States)

^ax UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^ay University of California   (United States)

^az University of Ulsan College of Medicine   (South Korea)

^ba JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bb JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^bc UNIVERSITY OF WASHINGTON   (United States)

^bd MASSACHUSETTS INSTITUTE OF TECHNOLOGY   (United States)

^be UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^bf UNIVERSITY OF CHICAGO   (United States)

^bg PFIZER INC   (United States)

^bh Altius Institute for Biomedical Sciences   (United States)

^bi DARTMOUTH MEDICAL SCHOOL   (United States)

^bj Office of Strategic Coordination   (United States)

^bk NATIONAL CANCER INSTITUTE   (United States)

^bl NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^bm Child Psychiatry Branch of NIMH   (United States)

^bn NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^bo NATIONAL INSTITUTE ON DRUG ABUSE   (United States)

^bp National Disease Research Interchange   (United States)

^bq Gift of Life Donor Program   (United States)

^br LifeNet Health   (United States)

^bs Washington Regional Transplant Community   (United States)

^bt Center for Organ Recovery and Education   (United States)

^bu LifeGift   (United States)

^bv ROSWELL PARK CANCER INSTITUTE   (United States)

^bw UNYTS   (United States)

^bx VAN ANDEL RESEARCH INSTITUTE   (United States)

^by UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^bz NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^ca FREDERICK NATIONAL LABORATORY FOR CANCER RESEARCH   (United States)

^cb TEMPLE UNIVERSITY   (United States)

^cc EUROPEAN BIOINFORMATICS INSTITUTE   (United Kingdom)

^cd University of California Santa Cruz   (United States)

^ce NONE   (United States)

^cf UNIVERSITY OF PORTO   (Portugal)

^cg UNIVERSITY OF PORTO   (Portugal)

^ch BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^ci NEW YORK UNIVERSITY MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 6; GLYCINE; TRANSCRIPTOME;

ADULT; ARTICLE; CLINICAL ARTICLE; COHORT ANALYSIS; COL6A1 GENE; CONCEPTUAL FRAMEWORK; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; INTRON; MALE; MUSCLE DISEASE; MUSCULAR DYSTROPHY; PATIENT ASSESSMENT; PROTEIN DOMAIN; PROTEIN MOTIF; RARE DISEASE; RNA SEQUENCE; RNA SPLICING; RNA TRANSCRIPTION; SKELETAL MUSCLE; VALIDATION STUDY; GENETICS; HIGH THROUGHPUT SEQUENCING; METABOLISM; MUTATION; PROCEDURES;

COLLAGEN TYPE VI; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUSCULAR DISEASES; MUTATION; TRANSCRIPTOME;

EID: 85018570855     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.aal5209     Document Type: Article

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