Responsibilities in genetic counseling for the deaf

A population-based study of coarctation of the aorta: comparisons of infants with and without associated ventricular septal defect.

Teratology·2001

Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.

American journal of medical genetics·1996

Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group.

Teratology·1994

Genetic epidemiologic study of hearing loss in an adult population.

American journal of medical genetics·1994

Congenital heart disease in adolescents and adults. Teratology, genetics, and recurrence risks.

Cardiology clinics·1993

Linkage analysis and predicting genetic disease.

Clinics in laboratory medicine·1992

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

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Hormone molecular biology and clinical investigation·2026

Beyond serum testosterone: Sexual experience delays the decline of sexual behavior and preserves cellular density in the medial preoptic area of gonadectomized male rats.

Behavioural processes·2026

Correction: Editorial Note: How sex chromosomes get trapped into nonrecombination.

PLoS biology·2026

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

eLife·2026

Male predominance and pubertal resolution in vernal Keratoconjunctivitis: Exploring associations with ocular surface sex steroid intracrinology.

The ocular surface·2026

Social isolation upregulates takeout expression in female Drosophila melanogaster to promote sucrose preference.

PLoS genetics·2026

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A population-based study of coarctation of the aorta: comparisons of infants with and without associated ventricular septal defect.

Gonadal (ovarian) dysgenesis in 46,XX individuals: frequency of the autosomal recessive form.

Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group.

Genetic epidemiologic study of hearing loss in an adult population.

Congenital heart disease in adolescents and adults. Teratology, genetics, and recurrence risks.

Linkage analysis and predicting genetic disease.

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.

First-trimester serum SHBG and vaspin as combined biomarkers for predicting gestational diabetes mellitus: a case-control accuracy study.

Beyond serum testosterone: Sexual experience delays the decline of sexual behavior and preserves cellular density in the medial preoptic area of gonadectomized male rats.

Correction: Editorial Note: How sex chromosomes get trapped into nonrecombination.

Divergent C. elegans toxin alleles are suppressed by distinct mechanisms.

Male predominance and pubertal resolution in vernal Keratoconjunctivitis: Exploring associations with ocular surface sex steroid intracrinology.

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