Volume 142, Issue 8

Search all Human Genetics articles

August 2023

Special Issue : Neurogenetics and Neurogenomics

Issue Editors:

Elaine T. Lim,
Yingleong Chan

24 articles in this issue

Editorial for the Neurogenetics and Neurogenomics special issue
Elaine T. Lim
Yingleong Chan
Editorial 21 July 2023 Pages: 997 - 999
Part of 1 collection:

Neurogenetics
Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations
Samareh Panjeshahi
Parvaneh Karimzadeh
Mohammad Miryounesi
Original Investigation 19 April 2023 Pages: 1001 - 1016
Part of 1 collection:

Neurogenetics
TMEM151A variants associated with paroxysmal kinesigenic dyskinesia
Hua lin Huang
Qing xia Zhang
Ding Liu
Original Investigation 01 March 2023 Pages: 1017 - 1028
Part of 1 collection:

Neurogenetics
Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Ching-Shiang Chi
Chi-Ren Tsai
Hsiu-Fen Lee
Original Investigation 27 February 2023 Pages: 1029 - 1041
Part of 1 collection:

Neurogenetics
Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion
Peter Sparber
Igor Bychkov
Mikhail Skoblov
Original Investigation 25 April 2023 Pages: 1043 - 1053
Part of 1 collection:

Neurogenetics
Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot
Enza Ferrero
Eleonora Di Gregorio
Alfredo Brusco
Original Investigation Open access 18 May 2023 Pages: 1055 - 1076
Part of 1 collection:

Neurogenetics
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation
Alexandra Frohne
Martin Koenighofer
Thomas Parzefall
Original Investigation Open access 29 November 2022 Pages: 1077 - 1089
Part of 1 collection:

Neurogenetics
Toward a comprehensive catalog of regulatory elements
Kaili Fan
Edith Pfister
Zhiping Weng
Review 19 March 2023 Pages: 1091 - 1111
Part of 1 collection:

Neurogenetics
Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci
Ammarah Ghaffar
The International Headache Genetics Consortium
Dale R. Nyholt
Original Investigation Open access 28 May 2023 Pages: 1113 - 1137
Part of 1 collection:

Neurogenetics
Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis
Kangcheng Liu
Pengfei Wu
Zhipeng You
Original Investigation 28 December 2022 Pages: 1139 - 1148
Part of 1 collection:

Neurogenetics
Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin
Md Rafiqul Islam
The International Headache Genetics Consortium (IHGC)
Dale R. Nyholt
Original Investigation Open access 20 February 2023 Pages: 1149 - 1172
Part of 1 collection:

Neurogenetics
Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis
Salvatore D’Antona
Gita A. Pathak
Renato Polimanti
Original Investigation Open access 11 February 2023 Pages: 1173 - 1183
Part of 1 collection:

Neurogenetics
Migraine, chronic kidney disease and kidney function: observational and genetic analyses
Wenqiang Zhang
Li Zhang
International Headache Genetics Consortium
Original Investigation Open access 12 June 2023 Pages: 1185 - 1200
Part of 1 collection:

Neurogenetics
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development
Seyed Ali Safizadeh Shabestari
Nasna Nassir
Mohammed Uddin
Original Investigation Open access 16 November 2022 Pages: 1201 - 1213
Part of 1 collection:

Neurogenetics
Demographic diversity of genetic databases used in Alzheimer’s disease research
Robert I. Field
Anthony W. Orlando
Arnold J. Rosoff
Original Investigation 24 April 2023 Pages: 1215 - 1220
Part of 1 collection:

Neurogenetics
A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia
Tiina Heinonen
Thomas Flegel
Marjo K. Hytönen
Original Investigation Open access 24 May 2023 Pages: 1221 - 1230
Part of 1 collection:

Neurogenetics
Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics
Kathleen Morrill
Frances Chen
Elinor Karlsson
Review 14 August 2023 Pages: 1231 - 1246
Part of 1 collection:

Neurogenetics
Cellular senescence and neurodegeneration
Kristopher Holloway
Kashfia Neherin
Hong Zhang
Review 28 April 2023 Pages: 1247 - 1262
Part of 1 collection:

Neurogenetics
The exocyst complex in neurological disorders
Dilara O. Halim
Mary Munson
Fen-Biao Gao
Review Open access 22 April 2023 Pages: 1263 - 1270
Part of 1 collection:

Neurogenetics
Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders
Dora Koller
Antonio Benítez-Burraco
Renato Polimanti
Original Investigation 17 March 2023 Pages: 1271 - 1279
Part of 1 collection:

Neurogenetics
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
Pepper Dawes
Liam F. Murray
Elaine T. Lim
Original Investigation 06 March 2023 Pages: 1281 - 1291
Part of 1 collection:

Neurogenetics
Transcriptomic reprogramming for neuronal age reversal
Alexandru M. Plesa
Michael Shadpour
George M. Church
Perspective Open access 01 April 2023 Pages: 1293 - 1302
Part of 1 collection:

Neurogenetics
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
Noemi Candia
Andrés Ibacache
Patricio Olguín
Original Investigation 27 June 2023 Pages: 1303 - 1315
Part of 1 collection:

Neurogenetics
Direct and indirect impact of SARS-CoV-2 on the brain
J. P. S. Peron
Review 01 April 2023 Pages: 1317 - 1326
Part of 1 collection:

Neurogenetics

Volume 142, Issue 8

Editorial for the Neurogenetics and Neurogenomics special issue

Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

TMEM151A variants associated with paroxysmal kinesigenic dyskinesia

Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation

Functional investigation of SCN1A deep-intronic variants activating poison exons inclusion

Spinocerebellar ataxia 38: structure–function analysis shows ELOVL5 G230V is proteotoxic, conformationally altered and a mutational hotspot

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

Toward a comprehensive catalog of regulatory elements

Integrating eQTL and GWAS data characterises established and identifies novel migraine risk loci

Mendelian randomization analysis reveals causal relationships between gut microbiome and optic neuritis

Cross-trait analyses identify shared genetics between migraine, headache, and glycemic traits, and a causal relationship with fasting proinsulin

Phenome-wide genetic-correlation analysis and genetically informed causal inference of amyotrophic lateral sclerosis

Migraine, chronic kidney disease and kidney function: observational and genetic analyses

Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development

Demographic diversity of genetic databases used in Alzheimer’s disease research

A loss-of-function variant in canine GLRA1 associates with a neurological disorder resembling human hyperekplexia

Comparative neurogenetics of dog behavior complements efforts towards human neuropsychiatric genetics

Cellular senescence and neurodegeneration

The exocyst complex in neurological disorders

Enrichment of self-domestication and neural crest function loci in the heritability of neurodevelopmental disorders

oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids

Transcriptomic reprogramming for neuronal age reversal

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila

Direct and indirect impact of SARS-CoV-2 on the brain

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