Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Nucleic Acids Research

Volumn 47, Issue D1, 2019, Pages D1018-D1027

  Köhler, Sebastian ^a,b,c   Carmody, Leigh ^c,d   Vasilevsky, Nicole ^c,e   Jacobsen, Julius O B ^c,f   Danis, Daniel ^c,d   Gourdine, Jean Philippe ^c,e   Gargano, Michael ^c,d   Harris, Nomi L ^c,g   Matentzoglu, Nicolas ^c,h   McMurry, Julie A ^c,i   Osumi Sutherland, David ^c,h   Cipriani, Valentina ^c,j,k,l   Balhoff, James P ^c,m   Conlin, Tom ^c,i   Blau, Hannah ^c,d   Baynam, Gareth ^n,o,p,q   Palmer, Richard ^q   Gratian, Dylan ⁿ   Dawkins, Hugh ⁿ   Segal, Michael ^r   Jansen, Anna C ^s,t   Muaz, Ahmed ^c,u   Chang, Willie H ^v   Bergerson, Jenna ^w   Laulederkind, Stanley J F ^x   Yüksel, Zafer ^y   Beltran, Sergi ^z,aa   Freeman, Alexandra F ^w   Sergouniotis, Panagiotis I ^ab   Durkin, Daniel ^d   Storm, Andrea L ^ac,ad   Hanauer, Marc ^ae   Brudno, Michael ^v   Bello, Susan M ^d   Sincan, Murat ^af   Rageth, Kayli ^af   Wheeler, Matthew T ^ag   Oegema, Renske ^ah   Lourghi, Halima ^ae   Della Rocca, Maria G ^ac,ad   Thompson, Rachel ^ai   Castellanos, Francisco ^d   Priest, James ^ag   Cunningham Rundles, Charlotte ^aj   Hegde, Ayushi ^d   Lovering, Ruth C ^k   Hajek, Catherine ^af   Olry, Annie ^ae   Notarangelo, Luigi ^w   Similuk, Morgan ^w   Zhang, Xingmin A ^c,d   Gómez Andrés, David ^ak   Lochmüller, Hanns ^z,al,am,an   Dollfus, Hélène ^ao   Rosenzweig, Sergio ^ap   Marwaha, Shruti ^ag   Rath, Ana ^ae   Sullivan, Kathleen ^aq   Smith, Cynthia ^d   Milner, Joshua D ^w   Leroux, Dorothée ^ao   Boerkoel, Cornelius F ^af   Klion, Amy ^w   Carter, Melody C ^w   Groza, Tudor ^c,u   Smedley, Damian ^c,f   Haendel, Melissa A ^c,e,i   Mungall, Chris ^c,g   Robinson, Peter N ^c,d,ar   more..

^a BERLIN INSTITUTE OF HEALTH   (Germany)

^b Einstein Center Digital Future   (Germany)

^c Monarchinitiativeorg   (United States)

^d JACKSON LABORATORY   (United States)

^e OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^f QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^g LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

^h WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

ⁱ OREGON STATE UNIVERSITY   (United States)

^j QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^k UNIVERSITY COLLEGE LONDON   (United Kingdom)

^l UNIVERSITY COLLEGE LONDON   (United Kingdom)

^m UNIVERSITY OF NORTH CAROLINA   (United States)

ⁿ DEPARTMENT OF HEALTH   (Australia)

^o UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^p MURDOCH UNIVERSITY   (Australia)

^q CURTIN UNIVERSITY   (Australia)

^r SimulConsult Inc   (United States)

^s VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^t UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^u GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

^v HOSPITAL FOR SICK CHILDREN   (Canada)

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

^x Medical College of Wisconsin and Marquette University   (United States)

^y Bioscientia Center for Human Genetics   (Germany)

^z CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^aa UNIVERSITAT POMPEU FABRA   (Spain)

^ab UNIVERSITY OF MANCHESTER   (United Kingdom)

^ac ICF INTERNATIONAL   (United States)

^ad NATIONAL INSTITUTES OF HEALTH   (United States)

^ae INSERM   (France)

^af SANFORD RESEARCH   (United States)

^ag STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^ah UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^ai NEWCASTLE UNIVERSITY   (United Kingdom)

^aj MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^ak HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^al UNIVERSITY OF FREIBURG   (Germany)

^am CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^an UNIVERSITY OF OTTAWA   (Canada)

^ao UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^ap NATIONAL INSTITUTES OF HEALTH   (United States)

^aq UNIVERSITY OF PENNSYLVANIA   (United States)

^ar UNIVERSITY OF CONNECTICUT   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; ELECTRONIC HEALTH RECORD; GENE ONTOLOGY; GENETIC VARIABILITY; HUMAN; HUMAN PHENOTYPE ONTOLOGY; KNOWLEDGE BASE; MEDICAL EDUCATION; PHENOTYPE; PRIORITY JOURNAL; RARE DISEASE; WHOLE EXOME SEQUENCING; WHOLE GENOME SEQUENCING; BIOLOGICAL ONTOLOGY; BIOLOGY; CONGENITAL DISORDER; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; INTERNET; PROCEDURES;

BIOLOGICAL ONTOLOGIES; COMPUTATIONAL BIOLOGY; CONGENITAL ABNORMALITIES; DATABASES, GENETIC; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HUMANS; INTERNET; KNOWLEDGE BASES; PHENOTYPE; RARE DISEASES; WHOLE GENOME SEQUENCING;

EID: 85059796063     PISSN: 03051048     EISSN: 13624962     Source Type: Journal    
DOI: 10.1093/nar/gky1105     Document Type: Article

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