International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases

American Journal of Human Genetics

Volumn 100, Issue 5, 2017, Pages 695-705

  Boycott, Kym M ^a   Rath, Ana ^b   Chong, Jessica X ^c   Hartley, Taila ^a   Alkuraya, Fowzan S ^d,e   Baynam, Gareth ^f   Brookes, Anthony J ^g   Brudno, Michael ^h   Carracedo, Angel ⁱ   den Dunnen, Johan T ^j   Dyke, Stephanie O M ^k   Estivill, Xavier ^l,m   Goldblatt, Jack ^f   Gonthier, Catherine ^b   Groft, Stephen C ⁿ   Gut, Ivo ^o   Hamosh, Ada ^p   Hieter, Philip ^q   Höhn, Sophie ^b   Hurles, Matthew E ^r   Kaufmann, Petra ⁿ   Knoppers, Bartha M ^k   Krischer, Jeffrey P ^s   Macek, Milan ^t   Matthijs, Gert ^u   Olry, Annie ^b   Parker, Samantha ^v   Paschall, Justin ^r   Philippakis, Anthony A ^w   Rehm, Heidi L ^w   Robinson, Peter N ^x,y   Sham, Pak Chung ^z   Stefanov, Rumen ^aa   Taruscio, Domenica ^ab   Unni, Divya ^b   Vanstone, Megan R ^a   Zhang, Feng ^ac,ad   Brunner, Han ^ae,af   Bamshad, Michael J ^c,ag   Lochmüller, Hanns ^ah   more..

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b INSERM   (France)

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

^d King Faisal Specialist Center and Research Center   (Saudi Arabia)

^e KING ABDULAZIZ CITY FOR SCIENCE AND TECHNOLOGY   (Saudi Arabia)

^f Genetic Services of Western Australia   (Australia)

^g UNIVERSITY OF LEICESTER   (United Kingdom)

^h UNIVERSITY OF TORONTO   (Canada)

ⁱ UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^j LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^k MCGILL UNIVERSITY   (Canada)

^l SIDRA MEDICAL AND RESEARCH CENTER   (Qatar)

^m Molecular Genetics Unit   (Spain)

ⁿ NATIONAL INSTITUTES OF HEALTH   (United States)

^o CENTRE FOR GENOMIC REGULATION CRG   (Spain)

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

^q UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^r WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^s UNIVERSITY OF SOUTH FLORIDA   (United States)

^t UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^u UNIVERSITY OF LEUVEN   (Belgium)

^v Lysogene SA   (France)

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

^x CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^y JACKSON LABORATORY   (United States)

^z UNIVERSITY OF HONG KONG   (Hong Kong)

^aa MEDICAL UNIVERSITY OF PLOVDIV   (Bulgaria)

^ab ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^ac WUXI APPTEC   (China)

^ad WuXi NextCODE   (United States)

^ae RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^af MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^ag SEATTLE CHILDREN S HOSPITAL   (United States)

^ah NEWCASTLE UNIVERSITY   (United Kingdom)

more..

Author keywords

disease modeling; gene discovery; genome sequencing; IRDiRC; Matchmaker Exchange; ontologies; rare diseases; solving the unsolved; transcriptome sequencing

Indexed keywords

CLINICAL GENETICS; GENE ONTOLOGY; GENETIC COUNSELING; GENETIC DISORDER; GENETIC VARIABILITY; HUMAN; INTERNATIONAL COOPERATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; NOTE; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; RECURRENCE RISK; EXOME; FACTUAL DATABASE; GENETICS; HUMAN GENOME; RARE DISEASES;

DATABASES, FACTUAL; EXOME; GENOME, HUMAN; HUMANS; INTERNATIONAL COOPERATION; RARE DISEASES;

EID: 85018752274     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.04.003     Document Type: Note

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