Samocha, Kaitlin
Kaitlin is currently a postdoctoral fellow involved with both the Deciphering Developmental Disorders (DDD) and DECIPHER projects. Her work is focused on studying and understanding the patterns of rare variation that contribute to disease.
Publications
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Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Nature genetics 2017;49;7;978-985
PUBMED: 28504703; PMC: 5552240; DOI: 10.1038/ng.3863
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De Novo Coding Variants Are Strongly Associated with Tourette Disorder.
Neuron 2017;94;3;486-499.e9
PUBMED: 28472652; DOI: 10.1016/j.neuron.2017.04.024
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Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Nature genetics 2017;49;5;806-810
PUBMED: 28369035; DOI: 10.1038/ng.3831
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Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.
Nature 2017;544;7649;235-239
PUBMED: 28406212; PMC: 5600291; DOI: 10.1038/nature22034
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Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Nature genetics 2017;49;4;504-510
PUBMED: 28191890; PMC: 5496244; DOI: 10.1038/ng.3789
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A framework for the detection of de novo mutations in family-based sequencing data.
European journal of human genetics : EJHG 2017;25;2;227-233
PUBMED: 27876817; PMC: 5255947; DOI: 10.1038/ejhg.2016.147
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SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.
Nature genetics 2017;49;2;238-248
PUBMED: 28067909; PMC: 5473428; DOI: 10.1038/ng.3743
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The ExAC browser: displaying reference data information from over 60 000 exomes.
Nucleic acids research 2017;45;D1;D840-D845
PUBMED: 27899611; PMC: 5210650; DOI: 10.1093/nar/gkw971
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Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Nature communications 2016;7;13293
PUBMED: 27796292; PMC: 5095512; DOI: 10.1038/ncomms13293
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Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Nature genetics 2016;48;10;1107-11
PUBMED: 27533299; PMC: 5042837; DOI: 10.1038/ng.3638
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High-throughput discovery of novel developmental phenotypes.
Nature 2016;537;7621;508-514
PUBMED: 27626380; PMC: 5295821; DOI: 10.1038/nature19356
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Analysis of protein-coding genetic variation in 60,706 humans.
Nature 2016;536;7616;285-91
PUBMED: 27535533; PMC: 5018207; DOI: 10.1038/nature19057
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Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.
PLoS genetics 2016;12;6;e1006121
PUBMED: 27305007; PMC: 4909280; DOI: 10.1371/journal.pgen.1006121
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Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors.
Clinical cancer research : an official journal of the American Association for Cancer Research 2016;22;9;2183-9
PUBMED: 26631610; PMC: 4854770; DOI: 10.1158/1078-0432.CCR-15-2317
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Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Nature genetics 2016;48;5;552-5
PUBMED: 26998691; PMC: 4986048; DOI: 10.1038/ng.3529
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Quantifying prion disease penetrance using large population control cohorts.
Science translational medicine 2016;8;322;322ra9
PUBMED: 26791950; PMC: 4774245; DOI: 10.1126/scitranslmed.aad5169
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De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Science (New York, N.Y.) 2015;350;6265;1262-6
PUBMED: 26785492; PMC: 4890146; DOI: 10.1126/science.aac9396
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A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.
Proceedings of the National Academy of Sciences of the United States of America 2015;112;42;E5679-88
PUBMED: 26438848; PMC: 4620870; DOI: 10.1073/pnas.1517932112
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Interpreting de novo Variation in Human Disease Using denovolyzeR.
Current protocols in human genetics 2015;87;7.25.1-15
PUBMED: 26439716; PMC: 4606471; DOI: 10.1002/0471142905.hg0725s87
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Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Neuron 2015;87;6;1215-33
PUBMED: 26402605; PMC: 4624267; DOI: 10.1016/j.neuron.2015.09.016
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The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.
Human mutation 2015;36;5;513-23
PUBMED: 25684150; PMC: 4409520; DOI: 10.1002/humu.22768
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A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nature genetics 2015;47;1;39-46
PUBMED: 25401298; PMC: 4281260; DOI: 10.1038/ng.3144
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Synaptic, transcriptional and chromatin genes disrupted in autism.
Nature 2014;515;7526;209-15
PUBMED: 25363760; PMC: 4402723; DOI: 10.1038/nature13772
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Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
Proceedings of the National Academy of Sciences of the United States of America 2014;111;42;15161-5
PUBMED: 25288738; PMC: 4210299; DOI: 10.1073/pnas.1409204111
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A framework for the interpretation of de novo mutation in human disease.
Nature genetics 2014;46;9;944-50
PUBMED: 25086666; PMC: 4222185; DOI: 10.1038/ng.3050
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Searching for missing heritability: designing rare variant association studies.
Proceedings of the National Academy of Sciences of the United States of America 2014;111;4;E455-64
PUBMED: 24443550; PMC: 3910587; DOI: 10.1073/pnas.1322563111
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Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
PLoS genetics 2013;9;4;e1003443
PUBMED: 23593035; PMC: 3623759; DOI: 10.1371/journal.pgen.1003443
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Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Nature 2012;485;7397;242-5
PUBMED: 22495311; PMC: 3613847; DOI: 10.1038/nature11011
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Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.
Genes, brain, and behavior 2010;9;7;759-67
PUBMED: 20597988; PMC: 3749925; DOI: 10.1111/j.1601-183X.2010.00613.x
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Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.
Genetics 2010;185;3;1033-44
PUBMED: 20439773; PMC: 2907190; DOI: 10.1534/genetics.110.116863
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Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.
Mammalian genome : official journal of the International Mammalian Genome Society 2009;20;4;224-35
PUBMED: 19306044; PMC: 2736561; DOI: 10.1007/s00335-009-9174-9