Human genetics: the last 35 years, the present, and the future

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

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

Neuronal Cell-Specific sc-eQTL and Integrative eQTL-pQTL Mendelian Randomization Prioritize CKAP2 as a Candidate Gene for Major Depressive Disorder.

Journal of molecular neuroscience : MN·2026

LncRNASNHG12 regulates the development of diabetic nephropathy through miR-129-5p/IL6ST axis.

Molecular biology reports·2026

Gene-virus interaction between IFN-γ rs2069705 polymorphism and Epstein-Barr virus in breast cancer susceptibility among Egyptian women.

Biomarkers in medicine·2026

Potential Ferroptosis-Related Genes and Immune Infiltration in Form-Deprivation Myopia: An Integrative Bioinformatics and in vitro Validation Study.

International journal of general medicine·2026

SIRT6 Aggravates Psoriasiform Skin Inflammation Through Modulation of the SOCS2-STAT1/3 Pathway.

Journal of inflammation research·2026

Genome-wide mapping of DCP2-dependent 5' cap footprints in Arabidopsis thaliana.

NAR genomics and bioinformatics·2026

Related Experiment Videos

Human genetics: the last 35 years, the present, and the future

Related Concept Videos

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.

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.

Neuronal Cell-Specific sc-eQTL and Integrative eQTL-pQTL Mendelian Randomization Prioritize CKAP2 as a Candidate Gene for Major Depressive Disorder.

LncRNASNHG12 regulates the development of diabetic nephropathy through miR-129-5p/IL6ST axis.

Gene-virus interaction between IFN-γ rs2069705 polymorphism and Epstein-Barr virus in breast cancer susceptibility among Egyptian women.

Potential Ferroptosis-Related Genes and Immune Infiltration in Form-Deprivation Myopia: An Integrative Bioinformatics and in vitro Validation Study.

SIRT6 Aggravates Psoriasiform Skin Inflammation Through Modulation of the SOCS2-STAT1/3 Pathway.

Genome-wide mapping of DCP2-dependent 5' cap footprints in Arabidopsis thaliana.

Related Experiment Videos

Human genetics: the last 35 years, the present, and the future

Related Concept Videos

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