Poterba, Timothy

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2020) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

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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

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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

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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

The mutational constraint spectrum quantified from variation in 141,456 humans

Karczewski, K. J., Francioli, L. C., Tiao, G., Cummings, B. B., Alföldi, J., Wang, Q., Collins, R. L., Laricchia, K. M., Ganna, A., Birnbaum, D. P., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,662

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

A structural variation reference for medical and population genetics

Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., et al. (2020) · Nature

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 1,037

Rare coding variants in ten genes confer substantial risk for schizophrenia

Singh, T., Poterba, T., Curtis, D., Akil, H., Al Eissa, M., Barchas, J. D., Bass, N., Bigdeli, T. B., Breen, G., Bromet, E. J., et al. (2022) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 983

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes

Karczewski, K. J., Solomonson, M., Chao, K. R., Goodrich, J. K., Tiao, G., Lu, W., Riley-Gillis, B. M., Tsai, E. A., Kim, H. I., Zheng, X., et al. (2022) · Cell Genomics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 284

Common risk variants identified in autism spectrum disorder

Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R., Won, H., Pallesen, J., Agerbo, E., Andreassen, O. A., Anney, R., et al. (2017) · bioRxiv (Cold Spring Harbor Laboratory)

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

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