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Publications by Takashi Shiihara

Mutations in KEOPS-complex Genes Cause Nephrotic Syndrome With Primary Microcephaly

Nature Genetics

English

De Novo Mutations in GNAO1, Encoding a Gαo Subunit of Heterotrimeric G Proteins, Cause Epileptic Encephalopathy

American Journal of Human Genetics

English

Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome

American Journal of Human Genetics

English

Correspondence: A Further Case of Opsoclonus–myoclonus Syndrome Associated With Mycoplasma Pneumoniae Infection

European Journal of Pediatrics

English

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Sequencing Studies in Human Genetics: Design and Interpretation

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Evolution of Genetic and Genomic Features Unique to the Human Lineage

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Recent Human Adaptation: Genomic Approaches, Interpretation and Insights

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ChIP–seq and Beyond: New and Improved Methodologies to Detect and Characterize Protein–DNA Interactions

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Sex and the Singular DM Domain: Insights Into Sexual Regulation, Evolution and Plasticity

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Putting Gene Essentiality Into Context

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Promoter-Proximal Pausing of RNA Polymerase II: Emerging Roles in Metazoans

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Stress and the Epigenetic Landscape: A Link to the Pathobiology of Human Diseases?

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Autoimmune Diseases — Connecting Risk Alleles With Molecular Traits of the Immune System

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Bayesian Molecular Clock Dating of Species Divergences in the Genomics Era

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