Kaitlin Samocha
Massachusetts General Hospital
44 papers found
Refreshing results…
A framework for the detection of de novo mutations in family-based sequencing data
Download from www.nature.comHigh-throughput discovery of novel developmental phenotypes
Download from www.nature.comAnalysis of protein-coding genetic variation in 60,706 humans.
Download from www.nature.comPatterns of genic intolerance of rare copy number variation in 59,898 human exomes
Download from www.nature.comQuantifying prion disease penetrance using large population control cohorts
Download from www.researchgate.netDe novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
Download from hdl.handle.netGenetic effect of chemotherapy exposure in children of testicular cancer survivors
Download from aacrjournals.orgInterpreting de novo Variation in Human Disease Using denovolyzeR
Download from hdl.handle.netGenetic risk for autism spectrum disorders and neuropsychiatric variation in the general population
Download from www.nature.comInsights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
Download from dx.doi.orgA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Download from www.nature.comSynaptic, transcriptional and chromatin genes disrupted in autism.
Download from www.nature.comA framework for the interpretation of de novo mutation in human disease
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