Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.

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Title: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis.
Authors: Scholz T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Blohm ME; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., van der Ven AT; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lisfeld J; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Herget T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Singer D; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Perez A; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Obi N; Department of Medical Biometrics/Epidemiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Santer R; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Kubisch C; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Deindl P; Division of Neonatology and Pediatric Intensive Care, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Source: Neonatology [Neonatology] 2021; Vol. 118 (4), pp. 454-461. Date of Electronic Publication: 2021 Jul 08.
Publication Type: Journal Article
Journal Info: Publisher: Karger Country of Publication: Switzerland NLM ID: 101286577 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1661-7819 (Electronic) Linking ISSN: 16617800 NLM ISO Abbreviation: Neonatology Subsets: MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:1661-7819
DOI:10.1159/000516890