Frontiers in Genetics | Neurogenomics

Original Research

Published on 24 Apr 2026

Leveraging Hamiltonian neural flow for robust single-cell multi-omics integration: application to Alzheimer’s disease

in Neurogenomics

Ziheng Huang
Wei Kong
Shuaiqun Wang

Frontiers in Genetics

doi 10.3389/fgene.2026.1795752

562 views

Original Research

Published on 20 Apr 2026

Sez6l promotes neuropathic pain via Wnt5a/Ca2+ pathways in dorsal root ganglion

in Neurogenomics

Limin Hu
Junjie Chen

Frontiers in Genetics

doi 10.3389/fgene.2026.1799301

647 views

Review

Accepted on 14 Apr 2026

Progress and Challenges in Exploring the Pathogenesis of Depressive Disorders via RNA Sequencing

in Neurogenomics

Boyu Zhang
Shizhong Zheng
Lihua Guo
Hong Zhao

Frontiers in Genetics

282 views

Brief Research Report

Published on 19 Mar 2026

PDK4 as a metabolic biomarker of chronic hydrocephalus

in Neurogenomics

Robbie Clarke
Payton Villers
Chloe Bills
Michaela Rice
Madison Higgins
Chan Lee
Prabir Patra
Peter H.U. Lee
Abhay Moghekar
Joon W. Shim

Frontiers in Genetics

doi 10.3389/fgene.2026.1780231

638 views

Original Research

Published on 25 Feb 2026

Identification of a novel CLCN2 homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review

in Neurogenomics

Lijia Yu
Weiqing Jiang
Li Cao
Zhi Geng
Jingjiong Chen

Frontiers in Genetics

doi 10.3389/fgene.2026.1761205

554 views

Original Research

Published on 18 Feb 2026

A SCN1A missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree

in Neurogenomics

Xiao-Ling Li

Frontiers in Genetics

doi 10.3389/fgene.2026.1746234

379 views

Case Report

Published on 12 Feb 2026

Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease

in Neurogenomics

Jing Zhong
Tang Yang
Bo Wu
Shuai Jiang

Frontiers in Genetics

doi 10.3389/fgene.2026.1769172

786 views

Original Research

Published on 05 Feb 2026

G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis

in Neurogenomics

Qi Peng
Siping Li
Fen Lv
Xiaomei Zeng
Qingqiu Cheng
Baimao Zhong
Xiaomei Lu

Frontiers in Genetics

doi 10.3389/fgene.2026.1766081

1,254 views

Original Research

Published on 28 Jan 2026

RNA networks of lysosomal-related biomarkers in Parkinson’s disease and their correlations with freezing of gait-associated genes

in Neurogenomics

Zheng Qibin
Lin Lin
Chen Yibiao
Lin Peng
Wang Huiqing
Su Daoqing
Yu Lianghong

Frontiers in Genetics

doi 10.3389/fgene.2026.1632163

1,270 views

Opinion

Published on 12 Jan 2026

Rethinking Parkinson’s disease genetics in the precision medicine era: why genomic diversity matters?

in Neurogenomics

Camilla Teixeira Pinheiro Gusmão
Giselli Scaini
Everton Ferreira de Souza
Rafael Antônio Vicente Lacerda
Matheus de Almeida Costa
Raja Mehanna
João Quevedo
Howard Lopes Ribeiro Junior

Frontiers in Genetics

doi 10.3389/fgene.2025.1750113

1,727 views

Correction

Published on 09 Jan 2026

Correction: Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

in Neurogenomics

Mingkai Yang
Yanfang Xiao
Chanjuan Chen
Zhou Chu
Guohong Hu

Frontiers in Genetics

doi 10.3389/fgene.2025.1769021

915 views

Case Report

Published on 11 Dec 2025

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

in Neurogenomics

Mingkai Yang
Yanfang Xiao
Chanjuan Chen
Zhou Chu
Guohong Hu

Frontiers in Genetics

doi 10.3389/fgene.2025.1674158

1,497 views

Case Report

Published on 08 Dec 2025

Neuronal intranuclear inclusion disease presenting with recurrent dizziness and headache: a case report with 5-year follow-up

in Neurogenomics

Limin Li
Xinghua Luan
Kai Liu
Chengzhe Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1719182

1,730 views

Original Research

Published on 20 Nov 2025

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein–Taybi syndrome type 2 in Chinese patients

in Neurogenomics

Qiang Zhang
Qi Yang
Xunzhao Zhou
Zailong Qin
Jingsi Luo

Frontiers in Genetics

doi 10.3389/fgene.2025.1690693

1,839 views

Case Report

Published on 06 Nov 2025

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features

in Neurogenomics

Li Li
Jie Zhang
Xiaoyan Shi
Yaqing Huang
Xingzhi Chang
Liya Zhang

Frontiers in Genetics

doi 10.3389/fgene.2025.1699311

1,810 views

Case Report

Published on 14 Oct 2025

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

in Neurogenomics

Qisheng Hu
Feng Zhu
Wanfen Wang
Yihang Xu
Haiyan Ren
Yanni Zheng
Yiqing Jiang
Shaofa Ke

Frontiers in Genetics

doi 10.3389/fgene.2025.1702803

2,185 views

Original Research

Published on 08 Oct 2025

Integrated transcriptomic and single-cell RNA sequencing identifies lysosomal ion channel genes as potential biomarkers for Alzheimer’s disease

in Neurogenomics

Xin Wang
Zelin Wu
Shaoli Wei
Xinran Zhao
Juan Lin
Fang Zhao
Xiaolei Liu

Frontiers in Genetics

doi 10.3389/fgene.2025.1676565

3,017 views
2 citations

Original Research

Published on 29 Aug 2025

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice

in Neurogenomics

Marcus H. F. Ng
Jimmy W. Y. Lam
Zoe Y. K. Choi
Hui-Fang Liu
Philip W. L. Ho
Benson W. M. Lau
Benjamin K. Yee

Frontiers in Genetics

doi 10.3389/fgene.2025.1629897

4,554 views

Case Report

Published on 14 Aug 2025

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

in Neurogenomics

Salvatore Savasta
Fabiola Serra
Lucrezia Galimberti
Francesco Fabrizio Comisi
Marcello Cossu
Alessandro Vannelli
Maddalena Masala
Sara Tanca
Stefania Murru

Frontiers in Genetics

doi 10.3389/fgene.2025.1613022

5,096 views
2 citations

Mini Review

Published on 30 Jul 2025

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

in Neurogenomics

Kathryn Step
Thiago Peixoto Leal
Walaa A. Kamel
Emily Waldo
Soraya Bardien
Ignacio F. Mata

Frontiers in Genetics

doi 10.3389/fgene.2025.1650259

5,135 views
1 citation

Case Report

Published on 04 Jul 2025

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

in Neurogenomics

Anna Bryzik
Dawid Larysz
Patrycja Larysz
Julia Izabela Karpierz
Justyna Paprocka

Frontiers in Genetics

doi 10.3389/fgene.2025.1622185

4,072 views

Original Research

Published on 18 Jun 2025

Epigenetic mechanisms linking atherosclerosis to ischemic stroke: insights from DNA methylation and transcriptome integration

in Neurogenomics

Binrong Ding
Yiqun Wang
Junfeng Li
Xuewei Zhang
Zhengqing Wan
Hao Wang

Frontiers in Genetics

doi 10.3389/fgene.2025.1567951

2,791 views

Original Research

Published on 25 Apr 2025

Correlation of tumor necrosis factor-α and interleukin-1 single-nucleotide polymorphisms with the risk of migraine development

in Neurogenomics

Guijiao Huang
Xin Dong
Xiaojiao Shao
Mengping Wu
Shan Gao
Yixuan Wang
Xinying Guan

Frontiers in Genetics

doi 10.3389/fgene.2025.1556498

2,203 views
2 citations

Case Report

Published on 05 Mar 2025

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

in Neurogenomics

Wentao Dong
Bingliang Zeng
Xiaolian Wang
Rui Zhang
Pei Huang
Bing Fan
Min Yuan
Zicong Li

Frontiers in Genetics

doi 10.3389/fgene.2025.1551832

2,614 views

240 articles

articles

Leveraging Hamiltonian neural flow for robust single-cell multi-omics integration: application to Alzheimer’s disease

Sez6l promotes neuropathic pain via Wnt5a/Ca2+ pathways in dorsal root ganglion

Progress and Challenges in Exploring the Pathogenesis of Depressive Disorders via RNA Sequencing

PDK4 as a metabolic biomarker of chronic hydrocephalus

Identification of a novel CLCN2 homozygous variant in a man with leukoencephalopathy and infertility: a case report and literature review

A SCN1A missense variant (c.4522T>A, p.(Tyr1508Asn) associated with genetic epilepsy with febrile seizures plus: clinical phenotype and genetic analysis of a Chinese pedigree

Case Report: Recurrent stroke-like episodes triggered by high-altitude exposure in X-linked charcot-marie-tooth disease

G6PD deficiency as a underrecognized genetic risk factor for rare neurological disorders: evidence from a population-based genetic analysis

RNA networks of lysosomal-related biomarkers in Parkinson’s disease and their correlations with freezing of gait-associated genes

Rethinking Parkinson’s disease genetics in the precision medicine era: why genomic diversity matters?

Correction: Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

Case Report: Synergistic effects of an ASXL3 mutation and a 15q11.2 BP1-BP2 microdeletion in a severe neurodevelopmental phenotype

Neuronal intranuclear inclusion disease presenting with recurrent dizziness and headache: a case report with 5-year follow-up

Five novel EP300 variants expand the genetic and phenotypic spectrum of Rubinstein–Taybi syndrome type 2 in Chinese patients

Case Report: Co-occurring de novo SHANK3 and SRCAP variants in a patient with autoimmune encephalitis and exhibiting Phelan-McDermid syndrome features

Ataxia, intentional tremor and hypotonia syndrome caused by a novel POU4F1 gene mutation: a case report

Integrated transcriptomic and single-cell RNA sequencing identifies lysosomal ion channel genes as potential biomarkers for Alzheimer’s disease

Affective phenotypes in heterozygous LRRK2 R1441G knock-in mice

Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): the role of genetic investigation in diagnostic assessment

X chromosome-wide association studies in neurological disorders: uncovering the hidden influence of the X chromosome

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy

Epigenetic mechanisms linking atherosclerosis to ischemic stroke: insights from DNA methylation and transcriptome integration

Correlation of tumor necrosis factor-α and interleukin-1 single-nucleotide polymorphisms with the risk of migraine development

A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings