List of works - Alan Pittman

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

article

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

scientific article

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

article

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

scientific article

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

scientific article

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

scientific article

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

scientific journal article

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

scientific article published on 16 December 2007

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

scientific article

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

scientific article

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

scientific article published on 25 July 2016

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

scientific article

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

scientific article

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

scientific article published on 05 April 2012

Untangling the tau gene association with neurodegenerative disorders.

scientific article

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

scientific article

Detection of long repeat expansions from PCR-free whole-genome sequence data

scientific article

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

scientific article

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

article

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

scientific article published on 23 May 2016

The tau H2 haplotype is almost exclusively Caucasian in origin

scientific article published on 01 October 2004

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

scientific article

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

scientific article published on 31 August 2013

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

scientific article

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

scientific article published on April 2016

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

scientific article published on 27 August 2007

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

scientific article

MAPT S305I mutation: implications for argyrophilic grain disease

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

scientific article

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

scientific article published on 26 December 2007

MLH1-93G > A is a risk factor for MSI colorectal cancer

scientific article published on 11 May 2011

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

scientific article published on 12 December 2011

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

scientific article

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus

scientific article published in February 2010

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

scientific article published on August 27, 2014

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

scientific article published on 20 February 2018

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

scientific article published on 20 December 2014

Clinical and genetic characterization of leukoencephalopathies in adults

scientific article

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer

scientific article published in October 2009

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

scientific article

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

scientific article published on 20 December 2017

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

scientific article published in April 2007

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

scientific article

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Analysis of the genetic variability in Parkinson's disease from Southern Spain.

scientific article

List of works by Alan Pittman

A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3

Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer

A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Characteristics of two distinct clinical phenotypes in pathologically proven progressive supranuclear palsy: Richardson's syndrome and PSP-parkinsonism

Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability

A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

Common genetic variants at the CRAC1 (HMPS) locus on chromosome 15q13.3 influence colorectal cancer risk

Multiple common susceptibility variants near BMP pathway loci GREM1, BMP4, and BMP2 explain part of the missing heritability of colorectal cancer

Pathological tau burden and distribution distinguishes progressive supranuclear palsy-parkinsonism from Richardson's syndrome

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

MAPT expression and splicing is differentially regulated by brain region: relation to genotype and implication for tauopathies

The colorectal cancer risk at 18q21 is caused by a novel variant altering SMAD7 expression

Cumulative impact of common genetic variants and other risk factors on colorectal cancer risk in 42,103 individuals

Untangling the tau gene association with neurodegenerative disorders.

Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia

Detection of long repeat expansions from PCR-free whole-genome sequence data

Allelic variation at the 8q23.3 colorectal cancer risk locus functions as a cis-acting regulator of EIF3H.

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

Fine-mapping of colorectal cancer susceptibility loci at 8q23.3, 16q22.1 and 19q13.11: refinement of association signals and use of in silico analysis to suggest functional variation and unexpected candidate target genes

Refinement of the basis and impact of common 11q23.1 variation to the risk of developing colorectal cancer

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

The tau H2 haplotype is almost exclusively Caucasian in origin

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Validation of next-generation sequencing technologies in genetic diagnosis of dementia

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Clinical and pathological features of an Alzheimer's disease patient with the MAPT Delta K280 mutation

Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion

MAPT S305I mutation: implications for argyrophilic grain disease

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease

MLH1-93G > A is a risk factor for MSI colorectal cancer

The 14q22.2 colorectal cancer variant rs4444235 shows cis-acting regulation of BMP4

Additional rare variant analysis in Parkinson's disease cases with and without known pathogenic mutations: evidence for oligogenic inheritance

Fine-scale mapping of the 6p25.3 chronic lymphocytic leukaemia susceptibility locus

The analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

Investigation of next-generation sequencing technologies as a diagnostic tool for amyotrophic lateral sclerosis.

Clinical and genetic characterization of leukoencephalopathies in adults

The CDH1-160C>A polymorphism is a risk factor for colorectal cancer

Novel CLN3 mutation causing autophagic vacuolar myopathy

A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK

Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease

Genetic variation at the tau locus and clinical syndromes associated with progressive supranuclear palsy

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Analysis of the genetic variability in Parkinson's disease from Southern Spain.