McCarroll, Steven A.

Mapping copy number variation by population-scale genome sequencing

1000 Genomes Project, Mills, R. E., Walter, K., Stewart, C., Handsaker, R. E., Chen, K., Alkan, C., Abyzov, A., Yoon, S. C., Ye, K., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,140

Mapping and sequencing of structural variation from eight human genomes

Kidd, J. M., Cooper, G. M., Donahue, W. F., Hayden, H. S., Sampas, N., Graves, T., Hansen, N., Teague, B., Alkan, C., Antonacci, F., et al. (2008) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 1,119

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Finucane, H. K., Reshef, Y. A., Anttila, V., Slowikowski, K., Gusev, A., Byrnes, A., Gazal, S., Loh, P.-R., Lareau, C., Shoresh, N., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 1,097

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

Marshall, C. R., Howrigan, D. P., Merico, D., Thiruvahindrapuram, B., Wu, W., Greer, D. S., Antaki, D., Shetty, A., Holmans, P. A., Pinto, D., et al. (2017) · Nature Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 1,058

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

Integrated detection and population-genetic analysis of SNPs and copy number variation

McCarroll, S. A., Kuruvilla, F. G., Korn, J. M., Cawley, S., Nemesh, J., Wysoker, A., Shapero, M. H., de Bakker, P. I. W., Maller, J. B., Kirby, A., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 936

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

MAGIC, Heid, I. M., Jackson, A. U., Randall, J. C., Winkler, T. W., Qi, L., Steinthorsdottir, V., Thorleifsson, G., Zillikens, M. C., Speliotes, E. K., et al. (2010) · Nature Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 931

Multi-platform discovery of haplotype-resolved structural variation in human genomes

Chaisson, M. J. P., Sanders, A. D., Zhao, X., Malhotra, A., Porubsky, D., Rausch, T., Gardner, E. J., Rodriguez, O. L., Guo, L., Collins, R. L., et al. (2019) · Nature Communications

Genomic variations and chromosomal abnormalitiesGenomics and Phylogenetic Studies

Cited by 891

A molecular census of arcuate hypothalamus and median eminence cell types

Campbell, J. N., Macosko, E. Z., Fenselau, H., Pers, T. H., Lyubetskaya, A., Tenen, D., Goldman, M., Verstegen, A. M. J., Resch, J. M., McCarroll, S. A., et al. (2017) · Nature Neuroscience

Regulation of Appetite and ObesitySingle-cell and spatial transcriptomics

Cited by 817

Comparative cellular analysis of motor cortex in human, marmoset and mouse

Bakken, T. E., Jorstad, N. L., Hu, Q., Lake, B. B., Tian, W., Kalmbach, B. E., Crow, M., Hodge, R. D., Krienen, F. M., Sorensen, S. A., et al. (2021) · Nature

Single-cell and spatial transcriptomicsNeuroscience and Neuropharmacology Research

Cited by 812

Evolution of cellular diversity in primary motor cortex of human, marmoset monkey, and mouse

Bakken, T. E., Jorstad, N. L., Hu, Q., Lake, B. B., Tian, W., Kalmbach, B. E., Crow, M., Hodge, R. D., Krienen, F. M., Sorensen, S. A., et al. (2020) · Nature

Single-cell and spatial transcriptomicsNeuroscience and Neuropharmacology Research

Cited by 809

Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs

Korn, J. M., Kuruvilla, F. G., McCarroll, S. A., Wysoker, A., Nemesh, J., Cawley, S., Hubbell, E., Veitch, J., Collins, P. J., Darvishi, K., et al. (2008) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 783

Common deletion polymorphisms in the human genome

McCarroll, S. A., Hadnott, T. N., Perry, G. H., Sabeti, P. C., Zody, M. C., Barrett, J. C., Dallaire, S., Gabriel, S. B., Lee, C., Daly, M. J., et al. (2006) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 701

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

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

McCarroll, S. A., Huett, A., Kuballa, P., Chilewski, S. D., Landry, A., Goyette, P., Zody, M. C., Hall, J. L., Brant, S. R., Cho, J. H., et al. (2008) · Nature Genetics

Inflammatory Bowel DiseaseGenetic Associations and Epidemiology

Cited by 655

Copy-number variation and association studies of human disease

McCarroll, S. A., & Altshuler, D. M. (2007) · Nature Genetics

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 622

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

Michaelson, J. J., Shi, Y., Gujral, M., Zheng, H., Malhotra, D., Jin, X., Jian, M., Liu, G., Greer, D., Bhandari, A., et al. (2012) · Cell

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 544

A multimodal cell census and atlas of the mammalian primary motor cortex

BRAIN Initiative Cell Census Network (BICCN), BRAIN Initiative Cell Census Network (BICCN) Corresponding authors, Callaway, E. M., Dong, H.-W., Ecker, J. R., Hawrylycz, M. J., Huang, Z. J., Lein, E. S., Ngai, J., Osten, P., et al. (2021) · Nature

Single-cell and spatial transcriptomicsGenomics and Chromatin Dynamics

Cited by 522

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Merkle, F. T., Ghosh, S., Kamitaki, N., Mitchell, J., Avior, Y., Mello, C., Kashin, S., Mekhoubad, S., Ilic, D., Charlton, M., et al. (2017) · Nature

Pluripotent Stem Cells ResearchCancer Genomics and Diagnostics

Cited by 506

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Gusev, A., Mancuso, N., Won, H., Kousi, M., Finucane, H. K., Reshef, Y., Song, L., Safi, A., Schizophrenia Working Group of the Psychiatric Genomics Consortium, McCarroll, S., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 491

Increased neutrophil extracellular trap formation promotes thrombosis in myeloproliferative neoplasms

Wolach, O., Sellar, R. S., Martinod, K., Cherpokova, D., McConkey, M., Chappell, R. J., Silver, A. J., Adams, D., Castellano, C. A., Schneider, R. K., et al. (2018) · Science Translational Medicine

Myeloproliferative Neoplasms: Diagnosis and TreatmentNeutrophil, Myeloperoxidase and Oxidative Mechanisms

Cited by 481

Comparing genomic expression patterns across species identifies shared transcriptional profile in aging

McCarroll, S. A., Murphy, C. T., Zou, S., Pletcher, S. D., Chin, C.-S., Jan, Y. N., Kenyon, C., Bargmann, C. I., & Li, H. (2004) · Nature Genetics

Genetics, Aging, and Longevity in Model OrganismsGenomics and Phylogenetic Studies

Cited by 454

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia

Genovese, G., Fromer, M., Stahl, E. A., Ruderfer, D. M., Chambert, K., Landén, M., Moran, J. L., Purcell, S. M., Sklar, P., Sullivan, P. F., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 444