Martin, Alicia R.

A global reference for human genetic variation

The 1000 Genomes Project Consortium, authors, C., Auton, A., Abecasis, G. R., Steering committee, Altshuler, D. M., Durbin, R. M., Abecasis, G. R., Bentley, D. R., Chakravarti, A., et al. (2015) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 18,247

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

Trubetskoy, V., Pardiñas, A. F., Qi, T., Panagiotaropoulou, G., Awasthi, S., Bigdeli, T. B., Bryois, J., Chen, C.-Y., Dennison, C. A., Hall, L. S., et al. (2022) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 2,964

Clinical use of current polygenic risk scores may exacerbate health disparities

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2019) · Nature Genetics

Race, Genetics, and SocietyGenetic Associations and Epidemiology

Cited by 2,821

Current clinical use of polygenic scores will risk exacerbating health disparities

Martin, A. R., Kanai, M., Kamatani, Y., Okada, Y., Neale, B. M., & Daly, M. J. (2018) · Nature Genetics

Race, Genetics, and SocietyGenetic Associations and Epidemiology

Cited by 2,813

Identification of common genetic risk variants for autism spectrum disorder

Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, Grove, J., BUPGEN, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, 23andMe Research Team, Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., et al. (2019) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 2,421

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Satterstrom, F. K., Kosmicki, J. A., Wang, J., Breen, M. S., De Rubeis, S., An, J.-Y., Peng, M., Collins, R., Grove, J., Klei, L., et al. (2020) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,321

Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder

ADHD Working Group of the Psychiatric Genomics Consortium (PGC), Demontis, D., Early Lifecourse & Genetic Epidemiology (EAGLE) Consortium, 23andMe Research Team, Walters, R. K., Martin, J., Mattheisen, M., Als, T. D., Agerbo, E., Baldursson, G., et al. (2019) · Nature Genetics

Attention Deficit Hyperactivity DisorderGenetic Associations and Epidemiology

Cited by 2,203

Genome-wide association studies

Uffelmann, E., Huang, Q. Q., Munung, N. S., de Vries, J., Okada, Y., Martin, A. R., Martin, H. C., Lappalainen, T., & Posthuma, D. (2021) · Nature Reviews Methods Primers

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,849

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

Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations

Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 1,391

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Lee, P. H., Anttila, V., Won, H., Feng, Y.-C. A., Rosenthal, J., Zhu, Z., Tucker-Drob, E. M., Nivard, M. G., Grotzinger, A. D., Posthuma, D., et al. (2019) · Cell

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,381

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Gandal, M. J., Haney, J. R., Parikshak, N. N., Leppa, V., Ramaswami, G., Hartl, C., Schork, A. J., Appadurai, V., Buil, A., Werge, T. M., et al. (2018) · Science

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 1,095

Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

Peterson, R. E., Kuchenbaecker, K., Walters, R. K., Chen, C.-Y., Popejoy, A. B., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R. J., Brick, L., et al. (2019) · Cell

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 797

A roadmap to increase diversity in genomic studies

Fatumo, S., Chikowore, T., Choudhury, A., Ayub, M., Martin, A. R., & Kuchenbaecker, K. (2022) · Nature Medicine

Race, Genetics, and SocietyEthics in Clinical Research

Cited by 707

Improving polygenic prediction in ancestrally diverse populations

Ruan, Y., Lin, Y.-F., Feng, Y.-C. A., Chen, C.-Y., Lam, M., Guo, Z., Initiatives, S. G. A., Ahn, Y. M., Akiyama, K., Arai, M., et al. (2022) · Nature Genetics

Genetic Associations and EpidemiologyGenetic and phenotypic traits in livestock

Cited by 707

Comparative genetic architectures of schizophrenia in East Asian and European populations

Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lam, M., Indonesia Schizophrenia Consortium, Genetic REsearch on schizophreniA neTwork-China and the Netherlands (GREAT-CN), Chen, C.-Y., Li, Z., Martin, A. R., Bryois, J., Ma, X., Gaspar, H., et al. (2019) · Nature Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 655

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci

Nievergelt, C. M., Maihofer, A. X., Klengel, T., Atkinson, E. G., Chen, C.-Y., Choi, K. W., Coleman, J. R. I., Dalvie, S., Duncan, L. E., Gelernter, J., et al. (2019) · Nature Communications

Posttraumatic Stress Disorder ResearchGenetic Associations and Epidemiology

Cited by 635

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability

Duncan, L. E., Ratanatharathorn, A., Aiello, A. E., Almli, L. M., Amstadter, A. B., Ashley-Koch, A. E., Baker, D. G., Beckham, J. C., Bierut, L. J., Bisson, J., et al. (2018) · Molecular Psychiatry

Posttraumatic Stress Disorder ResearchGenetic Associations and Epidemiology

Cited by 425

Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Polygenic Risk Score Task Force of the International Common Disease Alliance, Adeyemo, A., Balaconis, M. K., Darnes, D. R., Fatumo, S., Granados Moreno, P., Hodonsky, C. J., Inouye, M., Kanai, M., Kato, K., et al. (2021) · Nature Medicine

Genetic Associations and EpidemiologyRace, Genetics, and Society

Cited by 413

Signals of polygenic adaptation on height have been overestimated due to uncorrected population structure in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W. K., Hirschhorn, J. N., Daly, M. J., Patterson, N., et al. (2018) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 360

Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies

Sohail, M., Maier, R. M., Ganna, A., Bloemendal, A., Martin, A. R., Turchin, M. C., Chiang, C. W., Hirschhorn, J., Daly, M. J., Patterson, N., et al. (2019) · eLife

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 359

Genetic Control of Chromatin States in Humans Involves Local and Distal Chromosomal Interactions

Grubert, F., Zaugg, J. B., Kasowski, M., Ursu, O., Spacek, D. V., Martin, A. R., Greenside, P., Srivas, R., Phanstiel, D. H., Pekowska, A., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 319

Problems with Using Polygenic Scores to Select Embryos

Turley, P., Meyer, M. N., Wang, N., Cesarini, D., Hammonds, E., Martin, A. R., Neale, B. M., Rehm, H. L., Wilkins-Haug, L., Benjamin, D. J., et al. (2021) · New England Journal of Medicine

Prenatal Screening and DiagnosticsAssisted Reproductive Technology and Twin Pregnancy

Cited by 187

An Unexpectedly Complex Architecture for Skin Pigmentation in Africans

Martin, A. R., Lin, M., Granka, J. M., Myrick, J. W., Liu, X., Sockell, A., Atkinson, E. G., Werely, C. J., Möller, M., Sandhu, M. S., et al. (2017) · Cell

melanin and skin pigmentationGenetic Associations and Epidemiology

Cited by 156