Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Fuerte EPA"'
Autor:
Ting Wang, Karynne E. Patterson, Penny M Chow, Alexandra P. Lewis, Bonkowski Es, Adam Mp, Katherine M. Munson, Catherine R Paschal, Deborah A. Nickerson, Won Hee Lee, Audrey Squire, Dipple Km, Fuerte Epa, Angela Sun, Dan Doherty, Loucks H, Christina Lam, Ian A. Glass, Danny E. Miller, Dawn L. Earl, Rando Allikmets, Jenny Thies, Chang I, Beckman E, Arvis Sulovari, Evan E. Eichler, Jessica X. Chong, Perlman Sj, Nelson Z, Kendra Hoekzema, Robin L. Bennett, Anne V. Hing, Timothy J. Cherry, Megan C. Sikes, Michael J. Bamshad, Heather C Mefford, James T. Bennett
BACKGROUNDDespite widespread availability of clinical genetic testing, many individuals with suspected genetic conditions do not have a precise diagnosis. This limits their opportunity to take advantage of state-of-the-art treatments. In such instanc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a407f89067548603f34498d4966528f1
https://doi.org/10.1101/2020.11.03.365395
https://doi.org/10.1101/2020.11.03.365395
Autor:
Miller DE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA. Electronic address: danny.miller@seattlechildrens.org., Sulovari A; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Loucks H; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Fuerte EPA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Paschal CR; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA., Walsh T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Thies J; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Bennett JT; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Glass I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Dipple KM; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Patterson K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA., Bonkowski ES; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Nelson Z; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Squire A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Sikes M; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Beckman E; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Bennett RL; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Earl D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Lee W; Department of Genetics and Development, Columbia University, New York, NY 10032, USA; Department of Ophthalmology, Columbia University, New York, NY 10032, USA., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10032, USA; Department of Pathology and Cell Biology, Columbia University, New York, NY 10032, USA., Perlman SJ; Department of Neurology, Seattle Children's Hospital, University of Washington, Seattle, WA 98105, USA., Chow P; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA., Hing AV; Department of Pediatrics, Division of Craniofacial Medicine, University of Washington, Seattle, WA 98195, USA., Wenger TL; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Adam MP; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Sun A; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Lam C; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Chang I; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Zou X; Program in Computational Biology & Bioinformatics, Duke University, Durham, NC 27710, USA., Austin SL; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA., Huggins E; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA., Safi A; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA., Iyengar AK; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA; University Program in Genetics and Genomics, Duke University; Durham, NC 27708, USA., Reddy TE; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA., Majoros WH; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA., Allen AS; Department of Biostatistics and Bioinformatics, Duke University; Durham, NC 27708, USA., Crawford GE; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA., Kishnani PS; Department of Pediatrics, Division of Medical Genetics, Duke University, Durham, NC 27708, USA., King MC; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Cherry T; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Bamshad MJ; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Mefford HC; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA., Doherty D; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Department of Pediatrics, Division of Developmental Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98105, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA. Electronic address: eee@gs.washington.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 Aug 05; Vol. 108 (8), pp. 1436-1449. Date of Electronic Publication: 2021 Jul 02.