Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2018

Bruun Theodora U J, DesRoches Caro-Lyne, Wilson Diane, Chau Vann, Nakagawa Tadashi, Yamasaki Masahiro, Hasegawa Shinya, Fukao Toshiyuki, Marshall Christian, Mercimek-Andrews Saadet

Abstract excerpt

PurposeNeonatal encephalopathy, which is characterized by a decreased level of consciousness, occurs in 1-7/1,000 live-term births. In more than half of term newborns, there is no identifiable etiological factor. To identify underlying genetic defects, we applied whole-exome sequencing (WES) in term newborns with neonatal encephalopathy as a prospective cohort study.MethodsTerm newborns with neonatal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Brain Diseases
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genome-Wide Association Study

Share to Infant, Newborn

Share to Infant, Newborn, Diseases

Share to Magnetic Resonance Imaging

Share to Pregnancy

Source

Identifiers

PMID: 28817111
DOI: 10.1038/gim.2017.129

Genes

GNAO1
KCNQ2
LIAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.PMID 28817111Read ↗

Clinical features and underlying genetic causes in neonatal encephalopathy: A large cohort study.Semantic proximity Read ↗

Clinical exome sequencing uncovers genetic disorders in neonates with suspected hypoxic-ischemic encephalopathy: A retrospective analysis.Semantic proximity Read ↗

Next-Generation Sequencing Unravels the Genetic Landscape of Unexplained Neonatal Seizures in a Chinese CohortSemantic proximity Read ↗

Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel SequencingSemantic proximity Read ↗

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.Semantic proximity Read ↗

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infantSemantic proximity Read ↗

Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic EncephalopathiesSemantic proximity Read ↗

Neonatal EncephalopathySemantic proximity Read ↗

Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center studySemantic proximity Read ↗

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practiceSemantic proximity Read ↗

Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late.Semantic proximity Read ↗

Role of whole exome sequencing for unidentified genetic syndromes.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.