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Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman, Tamara S; Crowley, Stephanie B; Roche, Myra I; Foreman, Ann Katherine M; O'Daniel, Julianne M; Seifert, Bryce A; Lee, Kristy; Brandt, Alicia; Gustafson, Chelsea; DeCristo, Daniela M; Strande, Natasha T; Ramkissoon, Lori; Milko, Laura V; Owen, Phillips; Roy, Sayanty; Xiong, Mai; Paquin, Ryan S; Butterfield, Rita M; Lewis, Megan A; Souris, Katherine J; Bailey, Donald B; Rini, Christine; Booker, Jessica K; Powell, Bradford C; Weck, Karen E; Powell, Cynthia M; Berg, Jonathan S.
Affiliation
  • Roman TS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Crowley SB; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Roche MI; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.
  • Foreman AKM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • O'Daniel JM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Seifert BA; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Brandt A; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Gustafson C; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • DeCristo DM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Strande NT; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Ramkissoon L; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Milko LV; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Owen P; Renaissance Computing Institute, Chapel Hill, NC 27517, USA.
  • Roy S; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Xiong M; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Paquin RS; Center for Communication Science, RTI International, Research Triangle Park, NC 27709, USA.
  • Butterfield RM; Department of Family Medicine and Community Health, Duke University School of Medicine, Durham, NC 27705, USA.
  • Lewis MA; Center for Communication Science, RTI International, Research Triangle Park, NC 27709, USA.
  • Souris KJ; Department of Health Behavior, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Bailey DB; Genomics, Bioinformatics and Translational Research Center, RTI International, Research Triangle Park, NC 27709, USA.
  • Rini C; Feinberg School of Medicine, Department of Medical Social Sciences, and the Robert H. Lurie Comprehensive Cancer Center, Northwestern University, Chicago, IL 60611, USA.
  • Booker JK; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Powell BC; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Weck KE; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pathology and Laboratory Medicine, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.
  • Powell CM; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA; Department of Pediatrics, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC 27599, USA.
  • Berg JS; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA. Electronic address: jonathan_berg@med.unc.edu.
Am J Hum Genet ; 107(4): 596-611, 2020 10 01.
Article in En | MEDLINE | ID: mdl-32853555
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Full text: 1 Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms / Genetic Testing / Hearing Loss / Metabolic Diseases / Oculocerebrorenal Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do norte Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: United States
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Ovarian Neoplasms / Breast Neoplasms / Genetic Testing / Hearing Loss / Metabolic Diseases / Oculocerebrorenal Syndrome Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Country/Region as subject: America do norte Language: En Journal: Am J Hum Genet Year: 2020 Type: Article Affiliation country: United States