作者：
Dina Buitrago,Silva [1]
;
Marena,Trinidad [2]
;
Alicia,Ljungdahl [3]
;
Jezrael L,Revalde [4]
;
Geoffrey Y,Berguig [5]
;
William,Wallace [5]
;
Cory S,Patrick [6]
;
Lorenzo,Bomba [5]
;
Michelle,Arkin [4]
;
Shan,Dong [6]
;
Karol,Estrada [5]
;
Keino,Hutchinson [7]
;
Jonathan H,LeBowitz [5]
;
Avner,Schlessinger [7]
;
Katrine M,Johannesen [8]
;
Rikke S,Møller [9]
;
Kathleen M,Giacomini [1]
;
Steven,Froelich [5]
;
Stephan J,Sanders [10]
;
Arthur,Wuster [11]
作者单位：
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, San Francisco, CA, USA.
[1]
BioMarin Pharmaceutical Inc., Novato, CA, USA; Department of Molecular and Cell Biology, University of California, Berkeley, Berkeley, CA, USA; Innovative Genomics Institute, University of California, Berkeley, Berkeley, CA, USA.
[2]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford OX3 7TY, UK.
[3]
Department of Pharmaceutical Chemistry, University of California, San Francisco, San Francisco, CA, USA.
[4]
BioMarin Pharmaceutical Inc., Novato, CA, USA.
[5]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
[6]
Department of Pharmacological Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[7]
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark.
[8]
Department of Regional Health Research, Faculty of Health Sciences, University of Southern Denmark, Odense, Denmark; Department of Epilepsy Genetics and Personalized Medicine, Member of ERN Epicare, Danish Epilepsy Centre, Dianalund, Denmark.
[9]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford OX3 7TY, UK. Electronic address: stephan.sanders@paediatrics.ox.ac.uk.
[10]
BioMarin Pharmaceutical Inc., Novato, CA, USA. Electronic address: arthur.wuster@bmrn.com.
[11]
DOI
10.1016/j.ajhg.2024.04.021
PMID
38781976
发布时间
2024-07-25
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