Quest for the elusive genetic basis of Tourette syndrome

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

Clinical genetics·2011

Tooth dimensions in hypodontia with a known PAX9 mutation.

Archives of oral biology·2008

Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.

Annals of human genetics·2008

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Clinical genetics·2007

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.

European journal of human genetics : EJHG·2002

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.

Antisense & nucleic acid drug development·2001

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

American journal of human genetics·2026

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

American journal of human genetics·2026

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

American journal of human genetics·2026

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

American journal of human genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

American journal of human genetics·2026

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report.

Frontiers in neuroscience·2026

Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature.

Frontiers in endocrinology·2026

Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets.

Cell reports. Medicine·2026

ADNP-Related Helsmoortel-Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring.

American journal of medical genetics. Part A·2026

Parsing heterogeneity in autism spectrum disorder.

Science (New York, N.Y.)·2026

A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.

Case reports in genetics·2026

Related Experiment Videos

Quest for the elusive genetic basis of Tourette syndrome

Related Concept Videos

A novel g.-1258G>A mutation in a conserved putative regulatory element of PAX9 is associated with autosomal dominant molar hypodontia.

Tooth dimensions in hypodontia with a known PAX9 mutation.

Using population mixtures to optimize the utility of genomic databases: linkage disequilibrium and association study design in India.

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.

Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.

Competitive binding of triplex-forming oligonucleotides in the two alternate promoters of the PMP22 gene.

A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.

CanVar-UK: A collaborative platform for germline interpretation in cancer susceptibility genes.

Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.

Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Beyond exons: Linking noncoding heritability and polygenicity across complex human traits and disorders.

Early-onset parkinsonism as a presenting feature of suspected type 1 Gaucher disease with two pathogenic GBA1 variants: a case report.

Case Report: Proportionate short stature in a three-generation family harboring FGFR3 N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature.

Proteogenomic analysis of pediatric and AYA high-grade glioma reveals age-dependent biology, female-male differences, and kinase targets.

ADNP-Related Helsmoortel-Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring.

Parsing heterogeneity in autism spectrum disorder.

A Novel Pathogenic Frameshift Variant Associated With Holt-Oram Syndrome: A Case Report.

Related Experiment Videos

Quest for the elusive genetic basis of Tourette syndrome

Related Concept Videos

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