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Genetics

D-Index
55
Citations
14074
World Ranking
3564
National Ranking
424

Overview

Alan Pittman is affiliated with St George's, University of London in the United Kingdom. Their research spans multiple areas within biochemistry, genetics, and molecular biology, with a strong focus on medical applications.

The primary fields of study for this researcher include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these broader categories, their subfields of study focus on:

  • Molecular Biology
  • Genetics
  • Epidemiology
  • Cardiology and Cardiovascular Medicine
  • Cell Biology

Their research addresses several main topics:

  • Genomics and Rare Diseases
  • CRISPR and Genetic Engineering
  • RNA regulation and disease
  • Genetics and Neurodevelopmental Disorders
  • Mitochondrial Function and Pathology
  • Parkinson's Disease Mechanisms and Treatments
  • Skin and Cellular Biology Research

Several recent papers illustrate the scope of their work:

  • "Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification," 2020, The American Journal of Human Genetics
  • "Regulation of mitophagy by the NSL complex underlies genetic risk for Parkinson's disease at 16q11.2 and MAPT H1 loci," 2022, Brain
  • "MIR-NATs repress MAPT translation and aid proteostasis in neurodegeneration," 2021, Nature
  • "Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways," 2022, Nature Communications
  • "Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia," 2021, Journal of Clinical Investigation

Frequent co-authors in their publications include:

  • Henry Houlden
  • Nicholas Wood
  • John Hardy
  • Marta Futema
  • Satyamaanasa Polubothu

Alan Pittman has published regularly in journals such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Journal of Investigative Dermatology
  • Brain
  • Genetics in Medicine
  • Journal of Clinical Investigation

Best Publications

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

    David R Williams;Rohan de Silva;Dominic C Paviour;Alan M Pittman

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

    Ian P.M. Tomlinson;Emily Webb;Luis Carvajal-Carmona;Peter Broderick

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

    Wouter van Rheenen;Aleksey Shatunov;Annelot M. Dekker;Russell L. McLaughlin

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

    Peter Broderick;Luis Carvajal-Carmona;Luis Carvajal-Carmona;Alan M. Pittman;Emily Webb

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

    Richard S. Houlston;Emily Webb;Peter Broderick;Alan M. Pittman

  • The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease.

    Rina Bandopadhyay;Ann E. Kingsbury;Mark R. Cookson;Andrew R. Reid

  • Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis

    Janel O Johnson;Erik P Pioro;Ashley Boehringer;Ruth Chia

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

    Maria Chiara Di Bernardo;Dalemari Crowther-Swanepoel;Peter Broderick;Emily Webb

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

    David R Williams;Janice L Holton;Catherine Strand;Alan M Pittman

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

    Richard S Houlston;Jeremy Peter Cheadle;Sara E. Dobbins;Albert Tenesa

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

    Charles Shaw-Smith;Alan M Pittman;Lionel Willatt;Howard Martin

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

    Emma Jaeger;Emily Webb;Kimberley Howarth;Luis Carvajal-Carmona

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

    Egor Dolzhenko;Joke J.F.A. van Vugt;Richard J. Shaw;Mitchell A. Bekritsky

  • Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration

    A. M. Pittman;A. J. Myers;P. Abou-Sleiman;H. C. Fung

  • The H1c haplotype at the MAPT locus is associated with Alzheimer's disease

    A.J. Myers;M. Kaleem;L. Marlowe;A.M. Pittman

  • The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts

    Amanda J. Myers;Alan M. Pittman;Alice S. Zhao;Kristen Rohrer

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

    Daniah Trabzuni;Selina Wray;Jana Vandrovcova;Adaikalavan Ramasamy;Adaikalavan Ramasamy

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

    Lara Al-Olabi;Satyamaanasa Polubothu;Satyamaanasa Polubothu;Katherine Dowsett;Katrina A. Andrews

  • Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

    Ian P. M. Tomlinson;Luis G. Carvajal-Carmona;Sara E. Dobbins;Albert Tenesa

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

    Esther Meyer;Keren J Carss;Keren J Carss;Julia Rankin;John M E Nichols

Frequent Co-Authors

John Hardy
John Hardy University College London
Andrew J. Lees
Andrew J. Lees University College London
Nicholas W. Wood
Nicholas W. Wood University College London
Henry Houlden
Henry Houlden University College London
Richard S. Houlston
Richard S. Houlston Institute of Cancer Research
Peter Broderick
Peter Broderick Institute of Cancer Research
Kailash P. Bhatia
Kailash P. Bhatia University College London
Michael G. Hanna
Michael G. Hanna University College London
Amanda J. Myers
Amanda J. Myers University of Miami
Tamas Revesz
Tamas Revesz University College London

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