title: Clinical application of whole-genome sequencing in patients with primary immunodeficiency.
authors.affiliation: Departments of Internal Medicine and Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC; Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address: tmousall@wakehealth.edu.
authors.forename: Talal
authors.initials: T
authors.lastname: Mousallem
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Eshelman School of Pharmacy, University of North Carolina, Chapel Hill, NC.
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Urban
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
authors.forename: K Melodi
authors.initials: KM
authors.lastname: McSweeney
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Kleinstein
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC.
authors.forename: Mingfu
authors.initials: M
authors.lastname: Zhu
authors.affiliation: Hamad Medical Corporation, Doha, Qatar.
authors.forename: Mehdi
authors.initials: M
authors.lastname: Adeli
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors.forename: Roberta E
authors.initials: RE
authors.lastname: Parrott
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC.
authors.forename: Joseph L
authors.initials: JL
authors.lastname: Roberts
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
authors.forename: Brian
authors.initials: B
authors.lastname: Krueger
authors.affiliation: Department of Pediatrics, Duke University Medical Center, Durham, NC; Department of Immunology, Duke University School of Medicine, Durham, NC. Electronic address: buckl003@mc.duke.edu.
authors.forename: Rebecca H
authors.initials: RH
authors.lastname: Buckley
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, NC; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY.
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D017398:Alternative Splicing; D001402:B-Lymphocytes / Q000276:immunology / Q000473:pathology; D001483:Base Sequence; D002648:Child; D004268:DNA-Binding Proteins; D004720:Endonucleases; D005091:Exons; D005260:Female; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007070:Immunoglobulin A / Q000235:genetics; D007074:Immunoglobulin G / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D007694:Killer Cells, Natural / Q000276:immunology / Q000473:pathology; D018655:Lymphocyte Count; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics* / Q000276:immunology; D009687:Nuclear Proteins / Q000235:genetics* / Q000276:immunology; D013601:T-Lymphocytes / Q000276:immunology / Q000473:pathology
chemical_list: D004268:DNA-Binding Proteins; D007070:Immunoglobulin A; D007074:Immunoglobulin G; D009687:Nuclear Proteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1; C426344:DCLRE1C protein, human; D004720:Endonucleases