Analysis of segregation patterns between sibships within families ascertained in different ways

Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.

Transplantation proceedings·2010

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

Clinical genetics·1992

Comments on estimations of risks to translocation carriers.

American journal of medical genetics·1989

The incomplete, multiple ascertainment model: assumptions, applications, and alternative models.

Genetic epidemiology·1989

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects.

Human genetics·1987

Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data".

Clinical genetics·1986

Ancestry-Stratified Variant Classification in Monogenic Diabetes Genes: Annotation Coverage and Differential Curation Burden.

Annals of human genetics·2026

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Annals of human genetics·2026

Structural Variations of Alu Elements in the Kuwaiti Population: Laying the Foundations for Forensic Medicine.

Annals of human genetics·2026

Trans-Ancestry Psychiatric Genomics in Admixed Populations: Advances, Challenges, and Future Directions.

Annals of human genetics·2026

Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets.

Annals of human genetics·2026

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

Annals of human genetics·2026

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

Brain : a journal of neurology·2026

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics·2026

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Therapeutic advances in rare disease·2026

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Journal of human genetics·2026

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

Science (New York, N.Y.)·2026

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Analysis of segregation patterns between sibships within families ascertained in different ways

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Fatal hyperammonemia after renal transplant due to late-onset urea cycle deficiency: a case report.

Experiences with risk estimates for carriers of chromosomal reciprocal translocations.

Comments on estimations of risks to translocation carriers.

The incomplete, multiple ascertainment model: assumptions, applications, and alternative models.

A reanalysis of the New York State prenatal diagnosis data on Down's syndrome and paternal age effects.

Comments on methods and results in: Sherman et al., "Segregation analysis of balanced pericentric inversions in pedigree data".

Ancestry-Stratified Variant Classification in Monogenic Diabetes Genes: Annotation Coverage and Differential Curation Burden.

Population-Level Nucleotide Diversity and Genetic Differentiation at SOD1 Across Global Human Populations.

Structural Variations of Alu Elements in the Kuwaiti Population: Laying the Foundations for Forensic Medicine.

Trans-Ancestry Psychiatric Genomics in Admixed Populations: Advances, Challenges, and Future Directions.

Evidence of a Protective Effect of Metformin on Abdominal Aortic Aneurysm Risk: Insights From an Observational Study and Mendelian Randomisation Analysis Using Putative Metformin Targets.

Utility of Urine-Derived Cells for Characterizing Aberrant Splicing Caused by a Novel Deep Intronic L1CAM Variant.

AGG repeat expansion and aggregation of BIN1 in multiple system atrophy.

[Optical genome mapping analysis of a Chinese pedigree with a complex balanced translocation involving four chromosomes].

[Pathogenicity analysis and prenatal genetic counseling for five Chinese pedigrees harboring a hemizygous c.-32C>G variant of FGF13 gene].

Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disorders.

Systematic genotype-phenotype mapping and transcriptomic analyses highlight SEMA6A as a candidate for neuronal migration defects in 5q22-q23 deletions.

Autism mutations rewire protein interaction networks to drive neurodevelopmental pathology.

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Analysis of segregation patterns between sibships within families ascertained in different ways

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