第一单位：
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
作者：
Leonardo,Chimirri [1]
;
J Harry,Caufield [2]
;
Yasemin,Bridges [3]
;
Nicolas,Matentzoglu [4]
;
Michael,Gargano [5]
;
Mario,Cazalla [6]
;
Shihan,Chen [7]
;
Daniel,Danis [1]
;
Alexander Jm,Dingemans [8]
;
Petra,Gehle [9]
;
Adam S L,Graefe [1]
;
Weihong,Gu [10]
;
Markus S,Ladewig [11]
;
Pablo,Lapunzina [6]
;
Julián,Nevado [6]
;
Enock,Niyonkuru [12]
;
Soichi,Ogishima [13]
;
Dominik,Seelow [1]
;
Jair A Tenorio,Castaño [6]
;
Marek,Turnovec [14]
;
Bert Ba,de Vries [8]
;
Kai,Wang [7]
;
Kyran,Wissink [15]
;
Zafer,Yüksel [16]
;
Gabriele,Zucca [17]
;
Melissa A,Haendel [18]
;
Christopher J,Mungall [2]
;
Justin,Reese [2]
;
Peter N,Robinson [19]
作者单位：
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.
[1]
Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
[2]
William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
[3]
Semanticly, Athens, Greece.
[4]
The Jackson Laboratory for Genomic Medicine.
[5]
INGEMM-Idipaz, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Madrid, Spain.
[6]
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[7]
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
[8]
Deutsches Herzzentrum der Charité, Berlin, Germany.
[9]
Chinese HPO Consortium, Beijing, China.
[10]
Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany CIBERER-ISCIII, Madrid, Spain.
[11]
Lawrence Berkeley National Laboratory, Berkeley, CA, USA.;Trinity College, Hartford, CT, USA.
[12]
INGEM/ToMMo, Tohoku University, Miyagi, Japan.
[13]
Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.
[14]
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.;Utrecht University, Utrecht, Netherlands.
[15]
Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany.
[16]
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste, Trieste 34137, Italy.
[17]
University of North Carolina at Chapel Hill.
[18]
Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.;The Jackson Laboratory for Genomic Medicine.
[19]
DOI
10.1101/2025.02.26.25322769
PMID
40061308
发布时间
2026-02-26
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