Author details

Full Name

Kaitlin E Samocha

Affiliation

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
38057443	Inferring compound heterozygosity from large-scale exome sequencing data.	Nat Genet	2024
36993580	Inferring compound heterozygosity from large-scale exome sequencing data.	bioRxiv	2023
35322230	Reduced reproductive success is associated with selective constraint on human genes.	Nature	2022
36097220	Genetic risk factors have a substantial impact on healthy life years.	Nat Med	2022
34373650	Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
33536625	Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2021
34022131	Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.	Am J Hum Genet	2021
32461654	The mutational constraint spectrum quantified from variation in 141,456 humans.	Nature	2020
31932770	Exome sequencing in schizophrenia-affected parent-offspring trios reveals risk conferred by protein-coding de novo mutations.	Nat Neurosci	2020
30478437	Reply to 'Selective effects of heterozygous protein-truncating variants'.	Nat Genet	2019
31604926	Contribution of retrotransposition to developmental disorders.	Nat Commun	2019
29858273	Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.	Genome Res	2018
28191890	Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.	Nat Genet	2017
28504703	Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.	Nat Genet	2017
28546579	Corrigendum: SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.	Nat Genet	2017
28369035	Estimating the selective effects of heterozygous protein-truncating variants from human exome data.	Nat Genet	2017
28406212	Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.	Nature	2017
28472652	De Novo Coding Variants Are Strongly Associated with Tourette Disorder.	Neuron	2017
29144450	Corrigendum: High-throughput discovery of novel developmental phenotypes.	Nature	2017
27899611	The ExAC browser: displaying reference data information from over 60 000 exomes.	Nucleic Acids Res	2017
28067909	SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome.	Nat Genet	2017
27876817	A framework for the detection of de novo mutations in family-based sequencing data.	Eur J Hum Genet	2017
27535533	Analysis of protein-coding genetic variation in 60,706 humans.	Nature	2016
27305007	Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.	PLoS Genet	2016
26791950	Quantifying prion disease penetrance using large population control cohorts.	Sci Transl Med	2016
26998691	Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.	Nat Genet	2016
26631610	Genetic Effect of Chemotherapy Exposure in Children of Testicular Cancer Survivors.	Clin Cancer Res	2016
27533299	Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.	Nat Genet	2016
27796292	Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.	Nat Commun	2016
27626380	High-throughput discovery of novel developmental phenotypes.	Nature	2016
26402605	Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.	Neuron	2015
25401298	A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.	Nat Genet	2015
25684150	The evaluation of tools used to predict the impact of missense variants is hindered by two types of circularity.	Hum Mutat	2015
26785492	De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.	Science	2015
26439716	Interpreting de novo Variation in Human Disease Using denovolyzeR.	Curr Protoc Hum Genet	2015
26438848	A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.	Proc Natl Acad Sci U S A	2015
25086666	A framework for the interpretation of de novo mutation in human disease.	Nat Genet	2014
25288738	Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.	Proc Natl Acad Sci U S A	2014
25363760	Synaptic, transcriptional and chromatin genes disrupted in autism.	Nature	2014
24443550	Searching for missing heritability: designing rare variant association studies.	Proc Natl Acad Sci U S A	2014
23593035	Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.	PLoS Genet	2013
22495311	Patterns and rates of exonic de novo mutations in autism spectrum disorders.	Nature	2012
20597988	Fine mapping of QTL for prepulse inhibition in LG/J and SM/J mice using F(2) and advanced intercross lines.	Genes Brain Behav	2010
20439773	Genome-wide association studies and the problem of relatedness among advanced intercross lines and other highly recombinant populations.	Genetics	2010
19306044	Replication of long-bone length QTL in the F9-F10 LG,SM advanced intercross.	Mamm Genome	2009