Letter: Note on the analysis of twin data

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Journal of medical genetics·2009

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Clinical genetics·2008

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

Clinical genetics·2007

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Journal of medical genetics·2005

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

Journal of medical genetics·2003

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Clinical genetics·2003

Systematic and proactive evaluation of AIRE missense variant effects.

American journal of human genetics·2026

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

American journal of human genetics·2026

Cell villages and Dirichlet modeling map human cell fitness genetics.

American journal of human genetics·2026

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

American journal of human genetics·2026

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

American journal of human genetics·2026

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

American journal of human genetics·2026

Ataxin-2 regulates the synaptonemal complex to ensure chromosome pairing during female meiosis.

Genetics·2026

Partitioning of parental histones between leading and lagging strands is modulated by DNA polymerase dosage.

Nucleic acids research·2026

How Topoisomerases Relax and Disentangle the Genome During DNA Replication.

Journal of molecular biology·2026

Ctf18-dependent localization of interstitial telomeric sequence to nuclear pore complexes prevents chromosome fragility.

Nucleic acids research·2026

Nuclear compartmentalization at the G1/S transition plays a key role in DNA replication control.

Nature communications·2026

SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia.

Animal genetics·2026

Related Experiment Videos

Letter: Note on the analysis of twin data

Related Concept Videos

Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia.

Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA(Ser(UCN)) in sensorineural hearing loss.

A novel locus for autosomal dominant non-syndromic deafness, DFNA53, maps to chromosome 14q11.2-q12.

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.

USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele.

Systematic and proactive evaluation of AIRE missense variant effects.

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

Cell villages and Dirichlet modeling map human cell fitness genetics.

Mismapping of sequencing reads from polymorphic duplications generates spurious trans-eQTLs.

Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia.

Allele frequency trajectories across age groups reveal ongoing natural selection shaping disease susceptibility.

Ataxin-2 regulates the synaptonemal complex to ensure chromosome pairing during female meiosis.

Partitioning of parental histones between leading and lagging strands is modulated by DNA polymerase dosage.

How Topoisomerases Relax and Disentangle the Genome During DNA Replication.

Ctf18-dependent localization of interstitial telomeric sequence to nuclear pore complexes prevents chromosome fragility.

Nuclear compartmentalization at the G1/S transition plays a key role in DNA replication control.

SOAT1 Nonsense Variant in a Cat With Sebaceous Gland Dysplasia.

Related Experiment Videos

Letter: Note on the analysis of twin data

Related Concept Videos

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