Genetics and Mechanisms of Neurodevelopmental Disorders

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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)

Ruohao Wu
Xiangyang Luo
Zhe Meng
Wenting Tang
Liyang Liang

doi 10.3389/fneur.2025.1574021

170 views

ORIGINAL RESEARCH

Accepted on 06 Oct 2025

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

Tingting Tingting Ge
xiaojuan LIN
xinyuan tian
xiaoyu song
bingbo zhou
ling hui
xiaozhuan wang
zhiqiang zhang
Chuan Zhang

doi 10.3389/fgene.2025.1640775

132 views

ORIGINAL RESEARCH

Accepted on 06 Oct 2025

Novel SSR4 gene splice variant leads to Congenital disorder of glycosylation, type Iy

Ning Li
Chen Chen

doi 10.3389/fped.2025.1651524

ORIGINAL RESEARCH

Published on 17 Sep 2025

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B

Jinlan Li
Jie Zhou
Chunbo Ji
Siqing Ma
Jianying Zhu
Tiejun Yang
Danyang Dong
Yang Ping

doi 10.3389/fgene.2025.1664086

1,488 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

Huafang Jiang
Chaolong Xu
Zhimei Liu
Ruoyu Duan
Xingfeng Yao
Xiaona Fu
Jiatong Xu
Xuejing Kang
Tenghui Yu
1 more
Fang Fang

doi 10.3389/fped.2025.1608840

792 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

Jing Chen
Wei Su
Dan Gao
Fangfang Liu
Shuang Chen
Wenhan Zhang
Min Peng
Tao Lei
Hongmin Zhu

doi 10.3389/fgene.2025.1591551

1,329 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

Liqing Jiang
Jiaqi Li
Aizhong Han
Fei Hou
Xiaotong Wei
Yanjun Tian

doi 10.3389/fgene.2025.1616005

1,261 views

ORIGINAL RESEARCH

Published on 03 Jul 2025

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden

Elena D. Bagatelas
Maahin Manzoor Khan
Gabrielle V. Rushing

doi 10.3389/fnhum.2025.1589897

2,257 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

V. Napoli
S. Guerrera
F. Demaria
G. Piccolo
A. Cianfa
S. Passarini
M. G. Logrieco
G. Zanni
G. Valeri
S. Vicari

doi 10.3389/fped.2025.1617479

1,665 views

MINI REVIEW

Published on 28 Jan 2025

Clinical characteristics, diagnosis, treatment, and prognosis of Atezolizumab-induced encephalitis, aseptic meningitis or meningoencephalitis

Qingzi Yan
Yixiang Hu
Xiang Liu
Hong Xia

doi 10.3389/fnhum.2025.1443463

1,441 views

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Frontiers in Human Neuroscience

Brain Health and Clinical Neuroscience

Participating Journals

Frontiers in Genetics
- Genetics of Common and Rare Diseases
- 2.8 impact factor
- 6.2 citescore
Frontiers in Pediatrics
- Genetics of Common and Rare Diseases
- 2.0 impact factor
- 4.3 citescore

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Articles

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)

DLL1 haploinsufficiency in prenatal brain anomalies: a retrospective analysis of 6q terminal deletions

Novel SSR4 gene splice variant leads to Congenital disorder of glycosylation, type Iy

Uncovering compound heterozygous DYSF variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B

Case Report: Biallelic variants in MRPS36, encoding a component of the 2-oxoglutarate dehydrogenase complex, cause leigh syndrome

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

Identification of a novel microdeletion at 9q21.13 in a family with epilepsy, intellectual disability, and speech disorders and literature review

OCNDS core features are conserved across variants, with loop-region mutations driving greater symptom burden

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

Clinical characteristics, diagnosis, treatment, and prognosis of Atezolizumab-induced encephalitis, aseptic meningitis or meningoencephalitis

Frontiers in Human Neuroscience

Brain Health and Clinical Neuroscience

Participating Journals

Frontiers in Genetics

Genetics of Common and Rare Diseases

Frontiers in Pediatrics

Genetics of Common and Rare Diseases