The William Allan Memorial Award Lecture: Genetic nosology: three approaches

The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

JAMA·2001

The sequence of the human genome.

Science (New York, N.Y.)·2001

Implications of the Human Genome Project for medical science.

JAMA·2001

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Clinical genetics·2000

Online Mendelian Inheritance in Man (OMIM).

Human mutation·1999

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

Prenatal diagnosis·1999

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

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

American journal of human genetics·2026

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

American journal of human genetics·2026

A phenotypic paradigm for cerebral palsy genetics.

American journal of human genetics·2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

American journal of human genetics·2026

AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

Rheumatology international·2026

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Obstetric medicine·2026

Bone and Cartilage Staining for Skeletal Preparations.

Methods in molecular biology (Clifton, N.J.)·2026

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Journal of oral microbiology·2026

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Frontiers in nutrition·2026

Heritability - A Paradox of Quantitative Genetics.

Genetics·2026

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The William Allan Memorial Award Lecture: Genetic nosology: three approaches

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The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

The sequence of the human genome.

Implications of the Human Genome Project for medical science.

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Online Mendelian Inheritance in Man (OMIM).

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

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.

Phenome- and laboratory-wide meta-analyses of sickle cell trait reveal multi-system disease associations.

Mutation rate heterogeneity biases variant effect prediction and reveals genuine mutational robustness.

A phenotypic paradigm for cerebral palsy genetics.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

AA amyloidosis in familial Mediterranean fever: a comparative study of clinical and genetic features between Algerian probands and their relatives.

Sitosterolemia in pregnancy: A rare lipid disorder and its obstetric management.

Bone and Cartilage Staining for Skeletal Preparations.

Bidirectional Mendelian randomization between oral microbiota and allergic rhinitis in East Asian populations.

Correlation analysis between eight anthropometric indicators and arterial stiffness in relatively healthy Chinese adults.

Heritability - A Paradox of Quantitative Genetics.

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The William Allan Memorial Award Lecture: Genetic nosology: three approaches

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