McCarroll, Steven A.

Analysis of copy number variations at 15 schizophrenia-associated loci

Rees, E., Walters, J. T. R., Georgieva, L., Isles, A. R., Chambert, K. D., Richards, A. L., Mahoney-Davies, G., Legge, S. E., Moran, J. L., McCarroll, S. A., et al. (2014) · British Journal of Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 443

Quantifying prion disease penetrance using large population control cohorts

Minikel, E. V., Vallabh, S. M., Lek, M., Estrada, K., Samocha, K. E., Sathirapongsasuti, J. F., McLean, C. Y., Tung, J. Y., Yu, L. P. C., Gambetti, P., et al. (2016) · Science Translational Medicine

Prion Diseases and Protein MisfoldingGenomics and Rare Diseases

Cited by 442

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

Kiskinis, E., Sandoe, J., Williams, L. A., Boulting, G. L., Moccia, R., Wainger, B. J., Han, S., Peng, T., Thams, S., Mikkilineni, S., et al. (2014) · Cell stem cell

Amyotrophic Lateral Sclerosis ResearchHereditary Neurological Disorders

Cited by 441

Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations

Loh, P.-R., Genovese, G., Handsaker, R. E., Finucane, H. K., Reshef, Y. A., Palamara, P. F., Birmann, B. M., Talkowski, M. E., Bakhoum, S. F., McCarroll, S. A., et al. (2018) · Nature

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 423

Innovations present in the primate interneuron repertoire

Krienen, F. M., Goldman, M., Zhang, Q., C. H. del Rosario, R., Florio, M., Machold, R., Saunders, A., Levandowski, K., Zaniewski, H., Schuman, B., et al. (2020) · Nature

Single-cell and spatial transcriptomicsNeuroscience and Neuropharmacology Research

Cited by 381

Single-cell RNA sequencing reveals compromised immune microenvironment in precursor stages of multiple myeloma

Zavidij, O., Haradhvala, N. J., Mouhieddine, T. H., Sklavenitis-Pistofidis, R., Cai, S., Reidy, M., Rahmat, M., Flaifel, A., Ferland, B., Su, N. K., et al. (2020) · Nature Cancer

Multiple Myeloma Research and TreatmentsLymphoma Diagnosis and Treatment

Cited by 374

Innovations in Primate Interneuron Repertoire

Krienen, F. M., Goldman, M., Zhang, Q., del Rosario, R., Florio, M., Machold, R., Saunders, A., Levandowski, K., Zaniewski, H., Schuman, B., et al. (2019) · Nature

Single-cell and spatial transcriptomicsNeuroscience and Neuropharmacology Research

Cited by 372

The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay

Kirov, G., Rees, E., Walters, J. T. R., Escott-Price, V., Georgieva, L., Richards, A. L., Chambert, K. D., Davies, G., Legge, S. E., Moran, J. L., et al. (2014) · Biological Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 368

Overexpression of schizophrenia susceptibility factor human complement C4A promotes excessive synaptic loss and behavioral changes in mice

Yilmaz, M., Yalcin, E., Presumey, J., Aw, E., Ma, M., Whelan, C. W., Stevens, B., McCarroll, S. A., & Carroll, M. C. (2021) · Nature Neuroscience

Complement system in diseasesSchizophrenia research and treatment

Cited by 321

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

Werling, D. M., Brand, H., An, J.-Y., Stone, M. R., Zhu, L., Glessner, J. T., Collins, R. L., Dong, S., Layer, R. M., Markenscoff-Papadimitriou, E., et al. (2018) · Nature Genetics

Autism Spectrum Disorder ResearchGenetic Associations and Epidemiology

Cited by 293

The Genetic Landscape of Diamond-Blackfan Anemia

Ulirsch, J. C., Verboon, J. M., Kazerounian, S., Guo, M. H., Yuan, D., Ludwig, L. S., Handsaker, R. E., Abdulhay, N. J., Fiorini, C., Genovese, G., et al. (2018) · The American Journal of Human Genetics

Blood disorders and treatmentsGenomics and Rare Diseases

Cited by 272

Complement genes contribute sex-biased vulnerability in diverse disorders

Schizophrenia Working Group of the Psychiatric Genomics Consortium, Kamitaki, N., Sekar, A., Handsaker, R. E., de Rivera, H., Tooley, K., Morris, D. L., Taylor, K. E., Whelan, C. W., Tombleson, P., et al. (2020) · Nature

Systemic Lupus Erythematosus ResearchComplement system in diseases

Cited by 238

Comparative transcriptomics reveals human-specific cortical features

Jorstad, N. L., Song, J. H. T., Exposito-Alonso, D., Suresh, H., Castro-Pacheco, N., Krienen, F. M., Yanny, A. M., Close, J., Gelfand, E., Long, B., et al. (2023) · Science

Single-cell and spatial transcriptomicsNeurogenesis and neuroplasticity mechanisms

Cited by 208

Genetically distinct parallel pathways in the entopeduncular nucleus for limbic and sensorimotor output of the basal ganglia

Wallace, M. L., Saunders, A., Huang, K. W., Philson, A. C., Goldman, M., Macosko, E. Z., McCarroll, S. A., & Sabatini, B. L. (2017) · Neuron

Deep Brain Stimulation and Movement DisordersNeuroscience and Neuropharmacology Research

Cited by 205

zCall: a rare variant caller for array-based genotyping

Goldstein, J. I., Crenshaw, A., Carey, J., Grant, G. B., Maguire, J., Fromer, M., O’Dushlaine, C., Moran, J. L., Chambert, K., Stevens, C., et al. (2012) · Bioinformatics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 196

Novel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in Schizophrenia

Pocklington, A. J., Rees, E., Walters, J. T. R., Han, J., Kavanagh, D. H., Chambert, K. D., Holmans, P., Moran, J. L., McCarroll, S. A., Kirov, G., et al. (2015) · Neuron

Schizophrenia research and treatmentGenomic variations and chromosomal abnormalities

Cited by 193

Evidence that duplications of 22q11.2 protect against schizophrenia

Wellcome Trust Case Control Consortium, Rees, E., Kirov, G., Sanders, A., Walters, J. T. R., Chambert, K. D., Shi, J., Szatkiewicz, J., O'Dushlaine, C., Richards, A. L., et al. (2014) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 183

Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

Mukamel, R. E., Handsaker, R. E., Sherman, M. A., Barton, A. R., Zheng, Y., McCarroll, S. A., & Loh, P.-R. (2021) · Science

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 178

Exome sequencing in schizophrenia-affected parent–offspring trios reveals risk conferred by protein-coding de novo mutations

Howrigan, D. P., Rose, S. A., Samocha, K. E., Fromer, M., Cerrato, F., Chen, W. J., Churchhouse, C., Chambert, K., Chandler, S. D., Daly, M. J., et al. (2020) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 168

Common alleles contribute to schizophrenia in CNV carriers

Tansey, K. E., Rees, E., Linden, D. E., Ripke, S., Chambert, K. D., Moran, J. L., McCarroll, S. A., Holmans, P., Kirov, G., Walters, J., et al. (2016) · Molecular Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 132

Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function

Raychaudhuri, S., Korn, J. M., McCarroll, S. A., The International Schizophrenia Consortium, Altshuler, D., Sklar, P., Purcell, S., & Daly, M. J. (2010) · PLoS Genetics

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 131

Natural variation in gene expression and viral susceptibility revealed by neural progenitor cell villages

Wells, M. F., Nemesh, J., Ghosh, S., Mitchell, J. M., Salick, M. R., Mello, C. J., Meyer, D., Pietilainen, O., Piccioni, F., Guss, E. J., et al. (2023) · Cell Stem Cell

Single-cell and spatial transcriptomicsGenetic Associations and Epidemiology

Cited by 116

Transcriptome-wide analysis of differential expression in perturbation atlases

Nadig, A., Replogle, J. M., Pogson, A. N., Murthy, M., McCarroll, S. A., Weissman, J. S., Robinson, E. B., & O’Connor, L. J. (2025) · Nature Genetics

Single-cell and spatial transcriptomicsCRISPR and Genetic Engineering

Cited by 70

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

Nehme, R., Pietiläinen, O., Artomov, M., Tegtmeyer, M., Valakh, V., Lehtonen, L., Bell, C., Singh, T., Trehan, A., Sherwood, J., et al. (2022) · Nature Communications

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 58