Sklar, Pamela

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

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia

Kirov, G., Pocklington, A. J., Holmans, P., Ivanov, D., Ikeda, M., Ruderfer, D., Moran, J., Chambert, K., Toncheva, D., Georgieva, L., et al. (2012) · Molecular Psychiatry

Genomic variations and chromosomal abnormalitiesSchizophrenia research and treatment

Cited by 844

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

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders

Study, S. S., Singh, T., Study, I., Study, D., UK10 K Consortium, Kurki, M. I., Curtis, D., Purcell, S. M., Crooks, L., McRae, J., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 452

The PsychENCODE project

Akbarian, S., Liu, C., Knowles, J. A., Vaccarino, F. M., Farnham, P. J., Crawford, G. E., Jaffe, A. E., Pinto, D., Dracheva, S., Geschwind, D. H., et al. (2015) · Nature Neuroscience

Genomics and Chromatin DynamicsGenetic Associations and Epidemiology

Cited by 451

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

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

Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer’s disease susceptibility

Raj, T., Li, Y. I., Wong, G., Humphrey, J., Wang, M., Ramdhani, S., Wang, Y.-C., Ng, B., Gupta, I., Haroutunian, V., et al. (2018) · Nature Genetics

RNA Research and SplicingAlzheimer's disease research and treatments

Cited by 410

Gene Ontology Analysis of GWA Study Data Sets Provides Insights into the Biology of Bipolar Disorder

Holmans, P., Green, E. K., Pahwa, J. S., Ferreira, M. A. R., Purcell, S. M., Sklar, P., Owen, M. J., O'Donovan, M. C., & Craddock, N. (2009) · The American Journal of Human Genetics

Bioinformatics and Genomic NetworksGenetic Associations and Epidemiology

Cited by 378

Exome sequencing and the genetic basis of complex traits

Kiezun, A., Garimella, K., Do, R., Stitziel, N. O., Neale, B. M., McLaren, P. J., Gupta, N., Sklar, P., Sullivan, P. F., Moran, J. L., et al. (2012) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 372

Polygenic dissection of diagnosis and clinical dimensions of bipolar disorder and schizophrenia

Ruderfer, D. M., Fanous, A. H., Ripke, S., McQuillin, A., Amdur, R. L., Schizophrenia Working Group of the Psychiatric Genomics Consortium, Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Cross-Disorder Working Group of the Psychiatric Genomics Consortium, Gejman, P. V., O'Donovan, M. C., et al. (2014) · Molecular Psychiatry

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 364

Evaluating historical candidate genes for schizophrenia

Farrell, M. S., Werge, T., Sklar, P., Owen, M. J., Ophoff, R. A., O'Donovan, M. C., Corvin, A., Cichon, S., & Sullivan, P. F. (2015) · Molecular Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 315

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

Chen, R., Shi, L., Hakenberg, J., Naughton, B., Sklar, P., Zhang, J., Zhou, H., Tian, L., Prakash, O., Lemire, M., et al. (2016) · Nature Biotechnology

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 310

Extremely low-coverage sequencing and imputation increases power for genome-wide association studies

Pasaniuc, B., Rohland, N., McLaren, P. J., Garimella, K., Zaitlen, N., Li, H., Gupta, N., Neale, B. M., Daly, M. J., Sklar, P., et al. (2012) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Phylogenetic Studies

Cited by 299

GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores

Mullins, N., Bigdeli, T. B., Børglum, A. D., Coleman, J. R. I., Demontis, D., Mehta, D., Power, R. A., Ripke, S., Stahl, E. A., Starnawska, A., et al. (2019) · American Journal of Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

Cited by 270

Population genetic study of the brain-derived neurotrophic factor (BDNF) gene

Petryshen, T. L., Sabeti, P. C., Aldinger, K. A., Fry, B., Fan, J. B., Schaffner, S. F., Waggoner, S. G., Tahl, A. R., & Sklar, P. (2010) · Molecular Psychiatry

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 267

A Role for Noncoding Variation in Schizophrenia

Roussos, P., Mitchell, A. C., Voloudakis, G., Fullard, J. F., Pothula, V. M., Tsang, J., Stahl, E. A., Georgakopoulos, A., Ruderfer, D. M., Charney, A., et al. (2014) · Cell Reports

Genetic Associations and EpidemiologySchizophrenia research and treatment

Cited by 251

Combined Analysis from Eleven Linkage Studies of Bipolar Disorder Provides Strong Evidence of Susceptibility Loci on Chromosomes 6q and 8q

McQueen, M. B., Devlin, B., Faraone, S. V., Nimgaonkar, V. L., Sklar, P., Smoller, J. W., Abou Jamra, R., Albus, M., Bacanu, S.-A., Baron, M., et al. (2005) · The American Journal of Human Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 245

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Mullins, N., Kang, J., Campos, A. I., Coleman, J. R. I., Edwards, A. C., Galfalvy, H., Levey, D. F., Lori, A., Shabalin, A., Starnawska, A., et al. (2022) · Biological Psychiatry

Suicide and Self-Harm StudiesGenetic Associations and Epidemiology

Cited by 238

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability

Singh, T., Walters, J. T. R., Johnstone, M., Curtis, D., Suvisaari, J., Torniainen, M., Rees, E., Iyegbe, C., Blackwood, D., McIntosh, A. M., et al. (2017) · Nature Genetics

Schizophrenia research and treatmentGenomics and Rare Diseases

Cited by 231

Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression

Huang, J., Perlis, R. H., Lee, P. H., Rush, A. J., Fava, M., Sachs, G. S., Lieberman, J., Hamilton, S. P., Sullivan, P., Sklar, P., et al. (2010) · American Journal of Psychiatry

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 213

Recurrence risks for schizophrenia in a Swedish National Cohort

LICHTENSTEIN, P., BJÖRK, C., HULTMAN, C. M., SCOLNICK, E., SKLAR, P., & SULLIVAN, P. F. (2006) · Psychological Medicine

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 197

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

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