Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer.

Journal of genetic counseling·2015

Metachromatic leukodystrophy--an update.

Neuropediatrics·2010

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Journal of medical genetics·2010

Lysosulfatide regulates the motility of a neural precursor cell line via calcium-mediated process collapse.

Neurochemical research·2008

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Annals of human genetics·2008

Amyloid plaques arise from zinc-enriched cortical layers in APP/PS1 transgenic mice and are paradoxically enlarged with dietary zinc deficiency.

Neuroscience·2007

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

American journal of human genetics·2026

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

American journal of human genetics·2026

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

American journal of human genetics·2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

American journal of human genetics·2026

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

American journal of human genetics·2026

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

American journal of human genetics·2026

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

PLoS genetics·2026

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Neurology. Genetics·2026

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Animals : an open access journal from MDPI·2026

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Animals : an open access journal from MDPI·2026

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

International journal of molecular sciences·2026

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Molecular psychiatry·2026

Related Experiment Videos

Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

Related Concept Videos

The Effect of Genetic Counseling on Knowledge and Perceptions Regarding Risks for Breast Cancer.

Metachromatic leukodystrophy--an update.

Identification of a prevalent founder mutation in an Israeli Muslim Arab village confirms the role of PRCD in the aetiology of retinitis pigmentosa in humans.

Lysosulfatide regulates the motility of a neural precursor cell line via calcium-mediated process collapse.

A mutation analysis of the phenylalanine hydroxylase (PAH) gene in the Israeli population.

Amyloid plaques arise from zinc-enriched cortical layers in APP/PS1 transgenic mice and are paradoxically enlarged with dietary zinc deficiency.

Additive value of polygenic risk and family history for coronary heart disease risk stratification in two diverse US cohorts.

Landscape of parental postzygotic mutations across >11,000 rare disease trios.

Likelihood-based calibration improves the clinical utility of JAG1 functional data for variant classification.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Overlapping Xq13.3 duplications define an X-linked hypotrichosis simplex and implicate TAB3 dosage sensitivity.

Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies.

A generalized test of genotype-phenotype causality in population-sampled nuclear families.

Defining Haplosufficiency in Autosomal Recessive Limb-Girdle Muscular Dystrophy Using Molecular Markers in Disease Carriers.

Low-Coverage Whole-Genome Sequencing Identifies Loci Associated with Birth Weight in East Friesian × Hu Crossbred Sheep.

Integrative MRI and Genomics Analyses Prioritize PACSIN1 as a Candidate Gene for Cerebellar Ataxia in Border Collies.

Bayesian Population-Based Prevalence Estimation of KCNV2-Associated Retinopathy: A Comparative Analysis of Disease-Associated Variant Frequencies in Russian and Global Populations.

Translatable electrophysiological and behavioral abnormalities in a humanized model of SYNGAP1-disorder.

Related Experiment Videos

Multiple mutations in a specific gene in a small geographic area: a common phenomenon?

Related Concept Videos

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