List of works - Alan Pittman

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

scientific article

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

scientific article

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

article

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

scientific journal article

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

article

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

article

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

scientific article

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

scientific article

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

scientific article published on 06 November 2019

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

scientific article

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

scientific article

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

scientific article published on 26 December 2007

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

scientific article published on 11 September 2015

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

scientific article

Clinical and genetic characterization of leukoencephalopathies in adults

scientific article

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

scientific article published on 27 August 2007

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

scientific article

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

scientific article published on 16 December 2007

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

scientific article published in May 2017

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

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

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

scientific article published on April 2016

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

scientific article published on 18 March 2019

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

scientific article

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

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

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

scientific article published in February 2010

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

scientific article published on 22 January 2018

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

scientific article published on 23 May 2016

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

scientific article published in April 2007

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

scientific article published on 25 July 2016

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

scientific article published on 2 November 2017

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

scientific article

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

scientific article published on 20 December 2017

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

scientific article published on 20 December 2014

MAPT S305I mutation: implications for argyrophilic grain disease

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

scientific article

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

scientific article published on 19 May 2021

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

scientific article published on 11 May 2011

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

scientific 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

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

scientific article

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

publication published on 01 April 2021

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

scientific article published on 20 February 2018

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

scientific article published in November 2018

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

scientific article

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

scientific article published on 22 February 2018

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

scientific article (publication date: May 2014)

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

scientific article

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

scientific article

Novel CLN3 mutation causing autophagic vacuolar myopathy

scientific article

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

scientific article

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

scientific article

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

scientific article published on 28 July 2016

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

article

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

scientific article

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

scientific article published on 12 December 2011

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

scientific article published in October 2009

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

scientific article

The tau H2 haplotype is almost exclusively Caucasian in origin

scientific article published on 01 October 2004

Untangling the tau gene association with neurodegenerative disorders.

scientific article

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

scientific article published on 31 August 2013

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature.

scientific article

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias

scientific article published on 30 September 2018

List of works by Alan Pittman

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

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

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

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

A genome-wide association study of tag SNPs identify five novel colorectal cancer susceptibility loci

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

A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia

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

Allele-Specific Small Interfering RNA Corrects Aberrant Cellular Phenotype in Keratitis-Ichthyosis-Deafness Syndrome Keratinocytes

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

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

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

CHCHD10 Pro34Ser is not a highly penetrant pathogenic variant for amyotrophic lateral sclerosis and frontotemporal dementia.

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

Clinical and genetic characterization of leukoencephalopathies in adults

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

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

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

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

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

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

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

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

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

Evaluation of germline BMP4 mutation as a cause of colorectal cancer

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

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

GLS loss of function causes autosomal recessive spastic ataxia and optic atrophy.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia

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

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

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy

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

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

MAPT S305I mutation: implications for argyrophilic grain disease

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

MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration

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

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

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

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

Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

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

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

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

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

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

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

Novel CLN3 mutation causing autophagic vacuolar myopathy

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers

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

Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease. ⬇️

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

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

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

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

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

The tau H2 haplotype is almost exclusively Caucasian in origin

Untangling the tau gene association with neurodegenerative disorders.

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

Variation at the TRIM11 locus modifies progressive supranuclear palsy phenotype

Word Recognition and Learning: Effects of Hearing Loss and Amplification Feature.

Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias