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The role of exome sequencing in newborn screening for inborn errors of metabolism.

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第一作者: Aashish N,Adhikari
第一单位: Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. anadhikari@berkeley.edu.;Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. anadhikari@berkeley.edu.
作者单位: Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. anadhikari@berkeley.edu.;Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. anadhikari@berkeley.edu. [1] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.;Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA. [2] Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. [3] Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA. [4] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. [5] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.;Program in Bioethics, University of California San Francisco, San Francisco, CA, USA. [6] Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA.;Innovation Labs, Tata Consultancy Services, Hyderabad, India. [7] Department of Biomedical Informatics and Medical Education, University of Washington, Seattle, WA, USA. [8] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.;Invitae, San Francisco, CA, USA. [9] Department of Molecular, Cellular and Developmental Biology, Center for the Molecular Biology of RNA, UC Santa Cruz Genomics Institute, University of California Santa Cruz, Santa Cruz, CA, USA. [10] Innovation Labs, Tata Consultancy Services, Hyderabad, India. [11] Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA. [12] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.;Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA.;Department of Dermatology, University of California San Francisco, San Francisco, CA, USA. [13] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.;Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, USA. [14] Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. jennifer.puck@ucsf.edu.;Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA. jennifer.puck@ucsf.edu.;Cardiovascular Research Institute, University of California San Francisco, San Francisco, CA, USA. jennifer.puck@ucsf.edu.;Division of Allergy, Immunology and Blood and Marrow Transplantation, UCSF Benioff Children's Hospital, San Francisco, CA, USA. jennifer.puck@ucsf.edu. [15] Department of Plant and Microbial Biology, University of California Berkeley, Berkeley, CA, USA. brenner@compbio.berkeley.edu.;Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA. brenner@compbio.berkeley.edu.;Center for Computational Biology, University of California Berkeley, Berkeley, CA, USA. brenner@compbio.berkeley.edu.;Department of Bioengineering and Therapeutic Sciences, University of California San Francisco, San Francisco, CA, USA. brenner@compbio.berkeley.edu. [16]
DOI 10.1038/s41591-020-0966-5
PMID 32778825
发布时间 2023-11-05
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