ORIGINAL RESEARCH
Accepted on 03 Nov 2025
- Frontiers in Human Neuroscience
- Brain Health and Clinical Neuroscience
- Research Topics
- Genetics and Mechanisms of Neurodevelopmental Disorders
Genetics and Mechanisms of Neurodevelopmental Disorders
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Articles
ORIGINAL RESEARCH
Published on 24 Oct 2025
Novel SSR4 gene splice variant leads to congenital disorder of glycosylation, type Iy
doi 10.3389/fped.2025.1651524
- 358 views
ORIGINAL RESEARCH
Published on 20 Oct 2025
DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions
doi 10.3389/fgene.2025.1640775
- 919 views
ORIGINAL RESEARCH
Published on 15 Oct 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs)
doi 10.3389/fneur.2025.1574021
- 658 views
ORIGINAL RESEARCH
Published on 17 Sep 2025
Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B
doi 10.3389/fgene.2025.1664086
- 1,606 views
CASE REPORT
Published on 12 Sep 2025
Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome
doi 10.3389/fped.2025.1608840
- 900 views
ORIGINAL RESEARCH
Published on 06 Aug 2025
Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures
doi 10.3389/fgene.2025.1591551
- 1,475 views
ORIGINAL RESEARCH
Published on 07 Jul 2025
Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review
doi 10.3389/fgene.2025.1616005
- 1,359 views
ORIGINAL RESEARCH
Published on 03 Jul 2025
OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden
doi 10.3389/fnhum.2025.1589897
- 2,536 views
CASE REPORT
Published on 19 Jun 2025
Case Report: Diagnostic assessment, developmental trajectory and treatment approaches in a case of a complex neurodevelopmental syndrome associated with non- synonymous variants in MECP2 (p. R133C) and GABBR1
doi 10.3389/fped.2025.1617479
- 1,875 views
MINI REVIEW
Published on 28 Jan 2025
Clinical characteristics, diagnosis, treatment, and prognosis of Atezolizumab-induced encephalitis, aseptic meningitis or meningoencephalitis
doi 10.3389/fnhum.2025.1443463
- 1,583 views
Published in
Frontiers in Human Neuroscience
Brain Health and Clinical Neuroscience
Participating Journals
Frontiers in Genetics
- 2.8 impact factor
- 6.2 citescore
Frontiers in Pediatrics
- 2.0 impact factor
- 4.3 citescore