K. Samocha

发表

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

James Zou, Gregory Valiant, Paul Valiant, 2015, bioRxiv.

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

Andrew J. Hill, Ami Levy Moonshine, J. Danesh, 2015, bioRxiv.

Searching for missing heritability: Designing rare variant association studies

M. Daly, E. Lander, S. Schaffner, 2014, Proceedings of the National Academy of Sciences.

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

David P. Nusinow, M. Daly, D. MacArthur, 2017, Nature Genetics.

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, bioRxiv.

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

Parisa Shooshtari, Mark J Daly, Jinmyung Choi, 2015, bioRxiv.

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

M. Daly, C. Cotsapas, K. Samocha, 2015, bioRxiv.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2019, Cell.

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Stephan J Sanders, Alicia R. Martin, K. Roeder, 2018, Cell.

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

Matthew W. Mosconi, Ryan L. Collins, Stephan J Sanders, 2018, bioRxiv.

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

Jeffrey D. Mandell, Michael F. Walker, Stephan J Sanders, 2017, Neuron.

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

Christopher S. Poultney, Jeffrey D. Mandell, Michael F. Walker, 2015, Neuron.

High-throughput discovery of novel developmental phenotypes

Steve D. M. Brown, Lisa X. Yu, Jacqueline K. White, 2017 .

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

Karsten M. Borgwardt, M. Daly, D. MacArthur, 2015, Human mutation.

Synaptic, transcriptional, and chromatin genes disrupted in autism

Christopher S. Poultney, Stephan J Sanders, Stephen J. Guter, 2014, Nature.

The mutational constraint spectrum quantified from variation in 141,456 humans

Irina M. Armean, Judy H. Cho, Y. J. Kim, 2019, Nature.

The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

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

Stephan J Sanders, K. Roeder, M. Daly, 2016, Nature Genetics.

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2020, Nature Communications.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Tariq Ahmad, Patrick F. Sullivan, Andres Metspalu, 2019, bioRxiv.

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

Daniel G. MacArthur, Konrad J. Karczewski, Danish Saleheen, 2017, Nature.

Genome-Wide Association Studies and the Problem of Relatedness Among Advanced Intercross Lines and Other Highly Recombinant Populations

Mark Abney, A. Skol, M. Abney, 2010, Genetics.

The effect of LRRK2 loss-of-function variants in humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Medicine.

Evaluating drug targets through human loss-of-function genetic variation

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2019, Nature.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, bioRxiv.

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

M. Hurles, K. Karczewski, P. Danecek, 2020, medRxiv.

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

Jakob Grove, Anders D. Børglum, Aysu Okbay, 2016, Nature Genetics.

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

David P. Nusinow, M. Daly, D. MacArthur, 2016, Nature Genetics.

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

E. Banks, T. Fennell, K. Karczewski, 2017 .

Integrating healthcare and research genetic data empowers the discovery of 28 novel 1 developmental disorders 2 3

Patrick J. Short, M. Hurles, L. Vissers, 2020 .

Corrigendum: High-throughput discovery of novel developmental phenotypes

Steve D. M. Brown, Jacqueline K. White, Mark W. Moore, 2017, Nature.

Optimising diagnostic yield in highly penetrant genomic disease

M. Hurles, P. Danecek, K. Samocha, 2022, medRxiv.

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

Stephan J Sanders, K. Roeder, M. DePristo, 2014, Nature Genetics.

Human knockouts in a cohort with a high rate of consanguinity

J. Danesh, S. Gabriel, M. Daly, 2015, bioRxiv.

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides

M. Rivas, M. Daly, D. MacArthur, 2017, bioRxiv.

Quantifying prion disease penetrance using large population control cohorts

Patrick F. Sullivan, Karen L. Mohlke, M. Arfan Ikram, 2016, Science Translational Medicine.

Regional missense constraint improves variant deleteriousness prediction

M. Daly, D. MacArthur, B. Neale, 2017, bioRxiv.

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

Daniel G. MacArthur, Daniel Birnbaum, Konrad J. Karczewski, 2016, bioRxiv.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

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

Monkol Lek, Daniel G MacArthur, Menachem Fromer, 2016, Nature Genetics.

Reduced reproductive success is associated with selective constraint on human genes

M. Hurles, K. Samocha, E. Gardner, 2020, Nature.

Genetic risk factors have a substantial impact on healthy life years

M. Pirinen, A. Havulinna, J. Karjalainen, 2022, Nature Medicine.

Sex-biased reduction in reproductive success drives selective constraint on human genes

M. Hurles, G. Kirov, K. Samocha, 2020 .

Schizophrenia risk conferred by protein-coding de novo mutations

M. Daly, S. Mccarroll, N. Laird, 2018 .

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

Evan T. Geller, Emily L. Crawford, K. Roeder, 2012, Nature.

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

Taylor J. Maxwell, J. Cheverud, L. S. Pletscher, 2009, Mammalian Genome.

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Kathryn Roeder, Stephan Ripke, Shannon Gross, 2013, PLoS genetics.

Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations

M. Daly, S. Mccarroll, N. Laird, 2019, Nature Neuroscience.

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

Stephan J Sanders, K. Roeder, M. Daly, 2016, Nature Genetics.

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

Eric Banks, Menachem Fromer, Benjamin M Neale, 2016, European Journal of Human Genetics.

Interpreting de novo Variation in Human Disease Using denovolyzeR

M. Daly, K. Samocha, J. Ware, 2015, Current protocols in human genetics.

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

M. Daly, B. Neale, R. Perlis, 2014, Proceedings of the National Academy of Sciences.

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

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors

B. Neale, L. Garraway, E. V. Van Allen, 2015, Clinical Cancer Research.

Exome Analyses Reveal New Autism Genes in Synaptic, Transcriptional, and Chromatin Networks Supplementary Methods

Christopher S. Poultney, Stephan J Sanders, Evan T. Geller, 2022 .

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

Jakob Grove, Stephan Ripke, Preben Bo Mortensen, 2015, Nature Genetics.

A cross-disorder dosage sensitivity map of the human genome

Ryan L. Collins, Jack M. Fu, Joseph T. Glessner, 2021, Cell.

A structural variation reference for medical and population genetics

Tariq Ahmad, Patrick F. Sullivan, Mark I. McCarthy, 2020, Nature.

A structural variation reference for medical and population genetics

Ryan L. Collins, Jack M. Fu, Beryl B. Cummings, 2020, Nature.

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

Ryan L. Collins, D. MacArthur, Daisuke Sato, 2017, Nature Genetics.

Exome Aggregation Consortium

Adam Kiezun, Sergio Islas-Andrade, Pierre Fontanillas, 2016 .

Contribution of retrotransposition to developmental disorders

Patrick J. Short, M. Hurles, P. Danecek, 2018, Nature Communications.

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature Communications.

Transcript expression-aware annotation improves rare variant interpretation

Jonathan M. Mudge, Ryan L. Collins, Beryl B. Cummings, 2020, Nature.

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

Genetic constraint at single amino acid resolution improves missense variant prioritisation and gene discovery

K. Samocha, J. Ware, N. Whiffin, 2022, medRxiv.

Integrating healthcare and research genetic data empowers the discovery of 49 novel developmental disorders

Patrick J. Short, M. Hurles, L. Vissers, 2019, bioRxiv.

Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F2 and advanced intercross lines

R. Cheng, A. Palmer, K. Samocha, 2010, Genes, brain, and behavior.

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

D. MacArthur, H. Lodish, G. Bell, 2015, Proceedings of the National Academy of Sciences.

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Evaluating drug targets through human loss-of-function genetic variation

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2020, Nature.

Inferring compound heterozygosity from large-scale exome sequencing data.

Michael H. Guo, D. MacArthur, J. Hirschhorn, 2023, Nature genetics.

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

M. Daly, S. Mccarroll, B. Neale, 2020, Nature Neuroscience.

Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders

Firth, M. Hurles, K. Samocha, 2023, medRxiv.

Federated analysis of the contribution of recessive coding variants to 29,745 developmental disorder patients from diverse populations

Klaudia Walter, M. Hurles, P. Danecek, 2023, medRxiv.

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Ryan L. Collins, Beryl B. Cummings, Kristen M. Laricchia, 2021, Nature.

Searching for missing heritability: Designing rare variant association studies

M. Daly, E. Lander, S. Schaffner, 2014, Proceedings of the National Academy of Sciences.

Reduction in reproductive success is associated with selective constraint on human genes

M. Hurles, K. Samocha, E. Gardner, 2022 .

1 Sex-biased reduction in reproductive success drives selective constraint on 2 human genes

M. Hurles, G. Kirov, K. Samocha, 2020 .

Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.

M. Hurles, K. Karczewski, P. Danecek, 2021, American journal of human genetics.

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

Stephan J Sanders, M. Daly, W. Chung, 2015, Science.

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

Evan T. Geller, Emily L. Crawford, K. Roeder, 2012, Nature.

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

Paul Valiant, K. Karczewski, S. Sunyaev, 2016, Nature Communications.

High-throughput discovery of novel developmental phenotypes

Lisa X. Yu, Jacqueline K. White, Juan J. Gallegos, 2016, Nature.

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

Stephan J Sanders, M. Daly, D. Skuse, 2016, Nature Genetics.

Reply to ‘Selective effects of heterozygous protein-truncating variants’

David P. Nusinow, M. Daly, D. MacArthur, 2018, Nature Genetics.

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

M. Daly, D. MacArthur, G. Valiant, 2015, bioRxiv.

The landscape of regional missense mutational intolerance quantified from 125,748 exomes

Kristen M. Laricchia, K. Karczewski, P. Radivojac, 2024, bioRxiv.

Scholarship@Western Scholarship@Western

Massachusetts General Hospital, C. Cotsapas, K. Samocha, 2022 .

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

E. Karlsson, K. Samocha, M. Talkowski, 2024, bioRxiv.

Dissecting the contribution of common variants to risk of rare neurodevelopmental conditions

M. Hurles, P. Danecek, K. Samocha, 2024, medRxiv.