Samocha, Kaitlin

kaitlin.samocha@sanger.ac.uk

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

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

Weiner DJ, Wigdor EM, Ripke S, Walters RK, Kosmicki JA et al.

Nature genetics 2017;49;7;978-985

PUBMED: 28504703; PMC: 5552240; DOI: 10.1038/ng.3863
De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

Willsey AJ, Fernandez TV, Yu D, King RA, Dietrich A et al.

Neuron 2017;94;3;486-499.e9

PUBMED: 28472652; DOI: 10.1016/j.neuron.2017.04.024
Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Cassa CA, Weghorn D, Balick DJ, Jordan DM, Nusinow D et al.

Nature genetics 2017;49;5;806-810

PUBMED: 28369035; DOI: 10.1038/ng.3831
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D, Natarajan P, Armean IM, Zhao W, Rasheed A et al.

Nature 2017;544;7649;235-239

PUBMED: 28406212; PMC: 5600291; DOI: 10.1038/nature22034
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K et al.

Nature genetics 2017;49;4;504-510

PUBMED: 28191890; PMC: 5496244; DOI: 10.1038/ng.3789
A framework for the detection of de novo mutations in family-based sequencing data.

Francioli LC, Cretu-Stancu M, Garimella KV, Fromer M, Kloosterman WP et al.

European journal of human genetics : EJHG 2017;25;2;227-233

PUBMED: 27876817; PMC: 5255947; DOI: 10.1038/ejhg.2016.147
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

Shaw ND, Brand H, Kupchinsky ZA, Bengani H, Plummer L et al.

Nature genetics 2017;49;2;238-248

PUBMED: 28067909; PMC: 5473428; DOI: 10.1038/ng.3743
The ExAC browser: displaying reference data information from over 60 000 exomes.

Karczewski KJ, Weisburd B, Thomas B, Solomonson M, Ruderfer DM et al.

Nucleic acids research 2017;45;D1;D840-D845

PUBMED: 27899611; PMC: 5210650; DOI: 10.1093/nar/gkw971

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.

Zou J, Valiant G, Valiant P, Karczewski K, Chan SO et al.

Nature communications 2016;7;13293

PUBMED: 27796292; PMC: 5095512; DOI: 10.1038/ncomms13293
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

Ruderfer DM, Hamamsy T, Lek M, Karczewski KJ, Kavanagh D et al.

Nature genetics 2016;48;10;1107-11

PUBMED: 27533299; PMC: 5042837; DOI: 10.1038/ng.3638
High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD et al.

Nature 2016;537;7621;508-514

PUBMED: 27626380; PMC: 5295821; DOI: 10.1038/nature19356
Analysis of protein-coding genetic variation in 60,706 humans.

Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E et al.

Nature 2016;536;7616;285-91

PUBMED: 27535533; PMC: 5018207; DOI: 10.1038/nature19057
Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

Choi J, Shooshtari P, Samocha KE, Daly MJ and Cotsapas C

PLoS genetics 2016;12;6;e1006121

PUBMED: 27305007; PMC: 4909280; DOI: 10.1371/journal.pgen.1006121
Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors.

Kryukov GV, Bielski CM, Samocha K, Fromer M, Seepo S et al.

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
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Robinson EB, St Pourcain B, Anttila V, Kosmicki JA, Bulik-Sullivan B et al.

Nature genetics 2016;48;5;552-5

PUBMED: 26998691; PMC: 4986048; DOI: 10.1038/ng.3529
Quantifying prion disease penetrance using large population control cohorts.

Minikel EV, Vallabh SM, Lek M, Estrada K, Samocha KE et al.

Science translational medicine 2016;8;322;322ra9

PUBMED: 26791950; PMC: 4774245; DOI: 10.1126/scitranslmed.aad5169

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

Homsy J, Zaidi S, Shen Y, Ware JS, Samocha KE et al.

Science (New York, N.Y.) 2015;350;6265;1262-6

PUBMED: 26785492; PMC: 4890146; DOI: 10.1126/science.aac9396
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.

Patterson HC, Gerbeth C, Thiru P, Vögtle NF, Knoll M et al.

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
Interpreting de novo Variation in Human Disease Using denovolyzeR.

Ware JS, Samocha KE, Homsy J and Daly MJ

Current protocols in human genetics 2015;87;7.25.1-15

PUBMED: 26439716; PMC: 4606471; DOI: 10.1002/0471142905.hg0725s87
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE et al.

Neuron 2015;87;6;1215-33

PUBMED: 26402605; PMC: 4624267; DOI: 10.1016/j.neuron.2015.09.016
The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.

Grimm DG, Azencott CA, Aicheler F, Gieraths U, MacArthur DG et al.

Human mutation 2015;36;5;513-23

PUBMED: 25684150; PMC: 4409520; DOI: 10.1002/humu.22768
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Muona M, Berkovic SF, Dibbens LM, Oliver KL, Maljevic S et al.

Nature genetics 2015;47;1;39-46

PUBMED: 25401298; PMC: 4281260; DOI: 10.1038/ng.3144

Synaptic, transcriptional and chromatin genes disrupted in autism.

De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K et al.

Nature 2014;515;7526;209-15

PUBMED: 25363760; PMC: 4402723; DOI: 10.1038/nature13772
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

Robinson EB, Samocha KE, Kosmicki JA, McGrath L, Neale BM et al.

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
A framework for the interpretation of de novo mutation in human disease.

Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A et al.

Nature genetics 2014;46;9;944-50

PUBMED: 25086666; PMC: 4222185; DOI: 10.1038/ng.3050
Searching for missing heritability: designing rare variant association studies.

Zuk O, Schaffner SF, Samocha K, Do R, Hechter E et al.

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

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

Liu L, Sabo A, Neale BM, Nagaswamy U, Stevens C et al.

PLoS genetics 2013;9;4;e1003443

PUBMED: 23593035; PMC: 3623759; DOI: 10.1371/journal.pgen.1003443

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Neale BM, Kou Y, Liu L, Ma'ayan A, Samocha KE et al.

Nature 2012;485;7397;242-5

PUBMED: 22495311; PMC: 3613847; DOI: 10.1038/nature11011

Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.

Samocha KE, Lim JE, Cheng R, Sokoloff G and Palmer AA

Genes, brain, and behavior 2010;9;7;759-67

PUBMED: 20597988; PMC: 3749925; DOI: 10.1111/j.1601-183X.2010.00613.x
Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.

Cheng R, Lim JE, Samocha KE, Sokoloff G, Abney M et al.

Genetics 2010;185;3;1033-44

PUBMED: 20439773; PMC: 2907190; DOI: 10.1534/genetics.110.116863

Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.

Norgard EA, Jarvis JP, Roseman CC, Maxwell TJ, Kenney-Hunt JP et al.

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

Dr Kaitlin Samocha | Postdoctoral Fellow

Publications

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.

De Novo Coding Variants Are Strongly Associated with Tourette Disorder.

Estimating the selective effects of heterozygous protein-truncating variants from human exome data.

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.

A framework for the detection of de novo mutations in family-based sequencing data.

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.

The ExAC browser: displaying reference data information from over 60 000 exomes.

Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.

High-throughput discovery of novel developmental phenotypes.

Analysis of protein-coding genetic variation in 60,706 humans.

Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors.

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.

Quantifying prion disease penetrance using large population control cohorts.

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.

Interpreting de novo Variation in Human Disease Using denovolyzeR.

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.

The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.

Synaptic, transcriptional and chromatin genes disrupted in autism.

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.

A framework for the interpretation of de novo mutation in human disease.

Searching for missing heritability: designing rare variant association studies.

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

Patterns and rates of exonic de novo mutations in autism spectrum disorders.

Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.

Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.

Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.

Related Programmes

Kaitlin's Links

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