McCauley, Jacob L.

A genomic mutational constraint map using variation in 76,156 human genomes

Chen, S., Francioli, L. C., Goodrich, J. K., Collins, R. L., Kanai, M., Wang, Q., Alföldi, J., Watts, N. A., Vittal, C., Gauthier, L. D., et al. (2024) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,727

Multiple sclerosis genomic map implicates peripheral immune cells and microglia in susceptibility

International Multiple Sclerosis Genetics Consortium, Patsopoulos, N. A., Baranzini, S. E., Santaniello, A., Shoostari, P., Cotsapas, C., Wong, G., Beecham, A. H., James, T., Replogle, J., et al. (2019) · Science

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 1,471

Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci

International MS Genetics Consortium, De Jager, P. L., Jia, X., Wang, J., de Bakker, P. I. W., Ottoboni, L., Aggarwal, N. T., Piccio, L., Raychaudhuri, S., Tran, D., et al. (2009) · Nature Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 800

Interleukin 7 receptor α chain ( IL7R ) shows allelic and functional association with multiple sclerosis

for the Multiple Sclerosis Genetics Group, Gregory, S. G., Schmidt, S., Seth, P., Oksenberg, J. R., Hart, J., Prokop, A., Caillier, S. J., Ban, M., Goris, A., et al. (2007) · Nature Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 657

Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-compulsive behaviors

Sutcliffe, J. S., Delahanty, R. J., Prasad, H. C., McCauley, J. L., Han, Q., Jiang, L., Li, C., Folstein, S. E., & Blakely, R. D. (2005) · The American Journal of Human Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 392

Reconstructing the population genetic history of the Caribbean

Moreno-Estrada, A., Gravel, S., Zakharia, F., McCauley, J. L., Byrnes, J. K., Gignoux, C. R., Ortiz-Tello, P. A., Martínez, R. J., Hedges, D. J., Morris, R. W., et al. (2013) · PLoS Genetics

Forensic and Genetic ResearchGenetic diversity and population structure

Cited by 327

Meta-analysis of Genome-wide Association Studies Identifies 1q22 as a Susceptibility Locus for Intracerebral Hemorrhage

Woo, D., Falcone, G. J., Devan, W. J., Brown, W. M., Biffi, A., Howard, T. D., Anderson, C. D., Brouwers, H. B., Valant, V., Battey, T. W. K., et al. (2014) · The American Journal of Human Genetics

Intracerebral and Subarachnoid Hemorrhage ResearchGenetic Associations and Epidemiology

Cited by 290

Locus for severity implicates CNS resilience in progression of multiple sclerosis

International Multiple Sclerosis Genetics Consortium, Harroud, A., Stridh, P., McCauley, J. L., Saarela, J., van den Bosch, A. M. R., Engelenburg, H. J., Beecham, A. H., Alfredsson, L., Alikhani, K., et al. (2023) · Nature

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 243

A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1

Ma, D., Salyakina, D., Jaworski, J. M., Konidari, I., Whitehead, P. L., Andersen, A. N., Hoffman, J. D., Slifer, S. H., Hedges, D. J., Cukier, H. N., et al. (2009) · Annals of Human Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 221

Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations

Rajabli, F., Feliciano, B. E., Celis, K., Hamilton-Nelson, K. L., Whitehead, P. L., Adams, L. D., Bussies, P. L., Manrique, C. P., Rodriguez, A., Rodriguez, V., et al. (2018) · PLOS Genetics

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 206

Genome-wide and Ordered-Subset linkage analyses provide support for autism loci on 17q and 19p with evidence of phenotypic and interlocus genetic correlates

McCauley, J. L., Li, C., Jiang, L., Olson, L. M., Crockett, G., Gainer, K., Folstein, S. E., Haines, J. L., & Sutcliffe, J. S. (2005) · BMC Medical Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 168

Comprehensive follow-up of the first genome-wide association study of multiple sclerosis identifies KIF21B and TMEM39A as susceptibility loci

The International Multiple Sclerosis Genetics Consortium (IMSGC), McCauley, J. L., Zuvich, R. L., Beecham, A. H., De Jager, P. L., Konidari, I., Whitehead, P. L., Aubin, C., Ban, M., Pobywajlo, S., et al. (2010) · Human Molecular Genetics

Multiple Sclerosis Research StudiesGenetic Associations and Epidemiology

Cited by 106

Association of Apolipoprotein E With Intracerebral Hemorrhage Risk by Race/Ethnicity: A Meta-analysis

Marini, S., Crawford, K., Morotti, A., Lee, M. J., Pezzini, A., Moomaw, C. J., Flaherty, M. L., Montaner, J., Roquer, J., Jimenez-Conde, J., et al. (2019) · JAMA Neurology

Intracerebral and Subarachnoid Hemorrhage ResearchGenetic Associations and Epidemiology

Cited by 68

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27