List of works - Kaitlin E Samocha

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

scientific article

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

scientific article (publication date: 3 August 2014)

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

scientific article

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

scientific article

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

scientific article (publication date: 17 August 2016)

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

scientific article

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

scientific article

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

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

scientific article published in May 2017

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

scientific article published on December 2015

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

scientific article

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

scientific article published on 14 October 2020

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

scientific article

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

article

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors

scientific article published on 2 December 2015

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

scientific article published on 21 March 2016

High-throughput discovery of novel developmental phenotypes

scientific article published on 14 September 2016

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

scientific article published on April 2017

Human knockouts in a cohort with a high rate of consanguinity

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

scientific article

Interpreting de novo Variation in Human Disease Using denovolyzeR.

scientific article published on 6 October 2015

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

scientific article

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

scientific article

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

scientific article published on 17 August 2016

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

scientific article published on 15 May 2017

Quantifying prion disease penetrance using large population control cohorts

scientific article published on January 2016

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

scientific article published on 31 October 2016

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

scientific article published on 13 February 2017

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

scientific article published on 21 March 2009

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

scientific article

Searching for missing heritability: designing rare variant association studies

scientific article published on 17 January 2014

Synaptic, transcriptional and chromatin genes disrupted in autism

scientific article

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

scientific article

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

scientific article

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

scientific article published on 27 May 2020

List of works by Kaitlin E Samocha

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

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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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

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

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

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

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

De Novo Coding Variants Are Strongly Associated with Tourette Disorder

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

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

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

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

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

Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors

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

High-throughput discovery of novel developmental phenotypes

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

Human knockouts in a cohort with a high rate of consanguinity

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

Interpreting de novo Variation in Human Disease Using denovolyzeR.

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

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

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

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

Quantifying prion disease penetrance using large population control cohorts

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

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

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

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

Searching for missing heritability: designing rare variant association studies

Synaptic, transcriptional and chromatin genes disrupted in autism

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

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

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