Shaun’s work focuses on developing statistical and computational tools for the design of genetic studies, the detection of gene variants influencing complex human traits and the dissection of these effects in the larger context of other genetic and environmental factors. In particular, Shaun currently works on whole exome resequencing and whole genome association studies of bipolar disorder and schizophrenia and the development of tools for whole genome and exome genetic studies. His first degrees were in experimental psychology, from the University of Oxford and University of London (UCL); his PhD was from the SGDP, Institute of Psychiatry, KCL. Shaun is now based at the Psychiatric & Neurodevelopmental Genetics Unit (PNGU) which is part of the Center for Human Genetic Research (CHGR) at Massachusetts General Hospital (MGH). Shaun am also an Associate Member of the Broad Institute of Harvard and MIT and its Psychiatric Disease Initiative at the Stanley Center.
Ultra-rare disruptive and damaging mutations influence educational attainment in the general population.
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature. 2016;536(7616):285-91 - PMID: 27535533
The genetic architecture of type 2 diabetes.
Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Nat Neurosci. 2016;:ePub - PMID: 26974950
Quantifying prion disease penetrance using large population control cohorts.
Sci Transl Med. 2016;8(322):322ra9 - PMID: 26791950
Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder.
Mol Psychiatry. 2015;:ePub - PMID: 26503763
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Am J Hum Genet. 2015;97(4):576-92 - PMID: 26430803
Partitioning heritability by functional annotation using genome-wide association summary statistics.
The relationship between sleep quality and neurocognition in bipolar disorder.
J Affect Disord. 2015;187:156-162 - PMID: 26339925
New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.
Int J Epidemiol. 2015;:ePub - PMID: 26286434
Analysis of exome sequence in 604 trios for recessive genotypes in schizophrenia.
Transl Psychiatry. 2015;5:e607 - PMID: 26196440
Effect of predicted protein-truncating genetic variants on the human transcriptome.
Science. 2015;348(6235):666-9 - PMID: 25954003
Second-generation PLINK: rising to the challenge of larger and richer datasets.
Clonal Hematopoiesis and Blood-Cancer Risk Inferred from Blood DNA Sequence.
N Engl J Med. 2014;:ePub - PMID: 25426838
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
A Role for Noncoding Variation in Schizophrenia.
Cell Rep. 2014;9(4):1417-1429 - PMID: 25453756
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
Eur J Hum Genet. 2014;:ePub - PMID: 25370044
Synaptic, transcriptional and chromatin genes disrupted in autism.
Cross-Disorder Genome-Wide Analyses Suggest a Complex Genetic Relationship Between Tourette's Syndrome and OCD.
Am J Psychiatry. 2014;:ePub - PMID: 25158072
A framework for the interpretation of de novo mutation in human disease.
De novo CNVs in Bipolar Affective Disorder and Schizophrenia.
Hum Mol Genet. 2014;:ePub - PMID: 25055870
No association between RORA polymorphisms and PTSD in two independent samples.
Mol Psychiatry. 2014;:ePub - PMID: 25048002
Copy number variation in schizophrenia in Sweden.
Mol Psychiatry. 2014;:ePub - PMID: 24776740
Using XHMM Software to Detect Copy Number Variation in Whole-Exome Sequencing Data.
Curr Protoc Hum Genet. 2014;81:7.23.1-7.23.21 - PMID: 24763994
Statistical power and significance testing in large-scale genetic studies.
Nat Rev Genet. 2014;15(5):335-46 - PMID: 24739678
Genetic modifiers and subtypes in schizophrenia: Investigations of age at onset, severity, sex and family history.
Schizophr Res. 2014;154(1-3):48-53 - PMID: 24581549
Genetic Association Analysis of 300 Genes Identifies a Risk Haplotype in SLC18A2 for Posttraumatic Stress Disorder in two Independent Samples.
Neuropsychopharmacology. 2014;:ePub - PMID: 24525708
An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.
De novo mutations in schizophrenia implicate synaptic networks.
Nature. 2014;506(7487):179-84 - PMID: 24463507
A polygenic burden of rare disruptive mutations in schizophrenia.
Nature. 2014;506(7487):185-90 - PMID: 24463508
Comorbidity of Severe Psychotic Disorders With Measures of Substance Use.
JAMA Psychiatry. 2014;71(3):248-54 - PMID: 24382686
A genome wide survey supports the involvement of large copy number variants in schizophrenia with and without intellectual disability.
Am J Med Genet B Neuropsychiatr Genet. 2013;162(8):847-54 - PMID: 24115684
Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese.
Schizophr Bull. 2013;:ePub - PMID: 24043878
Genome-wide association study implicates a novel RNA gene, the lincRNA AC068718.1, as a risk factor for post-traumatic stress disorder in women.
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.