Pittman, Alan

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

Dolzhenko, E., van Vugt, J. J. F. A., Shaw, R. J., Bekritsky, M. A., van Blitterswijk, M., Narzisi, G., Ajay, S. S., Rajan, V., Lajoie, B. R., Johnson, N. H., et al. (2017) · Genome Research

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 388

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

The COGENT Consortium, Houlston, R. S., The CORGI Consortium, The COIN Collaborative Group, The COINB Collaborative Group, Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic factors in colorectal cancer

Cited by 360

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

Trabzuni, D., Wray, S., Vandrovcova, J., Ramasamy, A., Walker, R., Smith, C., Luk, C., Gibbs, J. R., Dillman, A., Hernandez, D. G., et al. (2012) · Human Molecular Genetics

Alzheimer's disease research and treatmentsRNA Research and Splicing

Cited by 252

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

Lubbe, S. J., Escott-Price, V., Gibbs, J. R., Nalls, M. A., Bras, J., Price, T. R., Nicolas, A., Jansen, I. E., Mok, K. Y., Pittman, A. M., et al. (2016) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsLysosomal Storage Disorders Research

Cited by 61

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis

Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., et al. (2016) · Neurobiology of Aging

Inflammatory Myopathies and DermatomyositisAmyotrophic Lateral Sclerosis Research

Cited by 51

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways

Young, W. J., Lahrouchi, N., Isaacs, A., Duong, T., Foco, L., Ahmed, F., Brody, J. A., Salman, R., Noordam, R., Benjamins, J.-W., et al. (2022) · Nature Communications

Cardiac electrophysiology and arrhythmiasGenetic Associations and Epidemiology

Cited by 49

Mutations in XRCC1 cause cerebellar ataxia and peripheral neuropathy

O’Connor, E., Vandrovcova, J., Bugiardini, E., Chelban, V., Manole, A., Davagnanam, I., Wiethoff, S., Pittman, A., Lynch, D. S., Efthymiou, S., et al. (2018) · Journal of Neurology, Neurosurgery & Psychiatry

Genetic Neurodegenerative DiseasesHereditary Neurological Disorders

Cited by 29