Evolutionarily conserved noncoding DNA in the human genome: how much and what for?

Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).

Genes, brain, and behavior·2008

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Journal of medical genetics·2005

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

The Journal of neuroscience : the official journal of the Society for Neuroscience·2004

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Molecular psychiatry·2003

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

Neuroscience·2003

Identification of epilepsy genes in human and mouse.

Annual review of genetics·2001

The impact of sex, age, and genetic ancestry on DNA methylation across tissues.

Genome research·2026

A sequence-based classifier distinguishes phenotype-associated genes from other gene models in plants.

Genome research·2026

An RNA polymerase III tissue and tumor atlas uncovers context-specific activities linked to 3D epigenome regulatory mechanisms.

Genome research·2026

Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.

Genome research·2026

High-accuracy SNV calling for bacterial isolates using deep learning with AccuSNV.

Genome research·2026

Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.

Genome research·2026

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

Scientific reports·2026

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

The Lancet. Microbe·2026

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

Frontiers in genetics·2026

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

Journal of clinical medicine·2026

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

HLA·2026

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Molecular syndromology·2026

Related Experiment Videos

Evolutionarily conserved noncoding DNA in the human genome: how much and what for?

Related Concept Videos

Exaggerated emotional behavior in mice heterozygous null for the sodium channel Scn8a (Nav1.6).

Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.

Sodium channels SCN1A, SCN2A and SCN3A in familial autism.

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels.

Identification of epilepsy genes in human and mouse.

The impact of sex, age, and genetic ancestry on DNA methylation across tissues.

A sequence-based classifier distinguishes phenotype-associated genes from other gene models in plants.

An RNA polymerase III tissue and tumor atlas uncovers context-specific activities linked to 3D epigenome regulatory mechanisms.

Biobank-scale genotype similarity search and dynamic patient-matched cohort creation with GenoSiS.

High-accuracy SNV calling for bacterial isolates using deep learning with AccuSNV.

Complete sequencing of medaka genomes reveals the architecture of centromeric satellites, giant mobile elements, and sex chromosomes.

MORF4L1, encoding a chromatin remodeler, is mutated in a recognizable dysmorphic neurodevelopmental disorder.

First nationwide full-genome characterisation of human-derived Andes virus in Chile: a retrospective genomic epidemiology study.

Integrated hearing and genetic screening for neonatal deafness in a resource-limited region: insights from Qingyuan, China.

A Novel <i>FN1</i> Nucleotide Variant c.3051G>C (p.Trp1017Cys) in a Pediatric Patient with Fibronectin Glomerulopathy: Case Report and Literature Review.

The Novel HLA-DQA1*01:204 Allele Identified in Asian Female Donor by Next-Generation Sequencing.

Detailed Clinical Report of Four Individuals from a Nusayri Family with a Rare TNXB Variant: Classical-Like and Hypermobile Types of Ehlers-Danlos Syndrome.

Related Experiment Videos

Evolutionarily conserved noncoding DNA in the human genome: how much and what for?

Related Concept Videos

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