Kaitlin Samocha
Massachusetts General Hospital
44 papers found
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A cross-disorder dosage sensitivity map of the human genome
UploadReduced reproductive success is associated with selective constraint on human genes
Download from doi.orgThe contribution of X-linked coding variation to severe developmental disorders
Download from www.nature.comEvidence for 28 genetic disorders discovered by combining healthcare and research data
Download from www.nature.comContribution of retrotransposition to developmental disorders
Download from www.nature.comSchizophrenia risk conferred by protein-coding de novo mutations
UploadDe Novo Coding Variants Are Strongly Associated with Tourette Disorder
Download from europepmc.orgEstimating the selective effects of heterozygous protein-truncating variants from human exome data
Download from www.nature.comHuman knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
Download from www.nature.comThe ExAC browser: displaying reference data information from over 60 000 exomes
Download from doi.orgMissing publications? Search for publications with a matching author name.