Ruderfer, Douglas M.

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

Association between Microdeletion and Microduplication at 16p11.2 and Autism

Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesAutism Spectrum Disorder Research

Cited by 1,666

De novo mutations in schizophrenia implicate synaptic networks

Fromer, M., Pocklington, A. J., Kavanagh, D. H., Williams, H. J., Dwyer, S., Gormley, P., Georgieva, L., Rees, E., Palta, P., Ruderfer, D. M., et al. (2014) · Nature

Schizophrenia research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 1,617

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

GERAD1 Consortium, Pardiñas, A. F., CRESTAR Consortium, Holmans, P., Pocklington, A. J., Escott-Price, V., Ripke, S., Carrera, N., Legge, S. E., Bishop, S., et al. (2018) · Nature Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,552

Genome-wide association study identifies 30 loci associated with bipolar disorder

eQTLGen Consortium, Stahl, E. A., BIOS Consortium, the Bipolar Disorder Working Group of the Psychiatric Genomics Consortium, Breen, G., Forstner, A. J., McQuillin, A., Ripke, S., Trubetskoy, V., Mattheisen, M., et al. (2019) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,519

Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology

Mullins, N., Forstner, A. J., O’Connell, K. S., Coombes, B., Coleman, J. R. I., Qiao, Z., Als, T. D., Bigdeli, T. B., Børte, S., Bryois, J., et al. (2021) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,517

Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Multicenter Genetic Studies of Schizophrenia Consortium, Ripke, S., Psychosis Endophenotypes International Consortium, Wellcome Trust Case Control Consortium 2, O'Dushlaine, C., Chambert, K., Moran, J. L., Kähler, A. K., Akterin, S., Bergen, S. E., et al. (2013) · Nature Genetics

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,496

A polygenic burden of rare disruptive mutations in schizophrenia

Purcell, S. M., Moran, J. L., Fromer, M., Ruderfer, D., Solovieff, N., Roussos, P., O’Dushlaine, C., Chambert, K., Bergen, S. E., Kähler, A., et al. (2014) · Nature

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,385

Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4

Psychiatric GWAS Consortium Bipolar Disorder Working Group, Sklar, P., Ripke, S., Scott, L. J., Andreassen, O. A., Cichon, S., Craddock, N., Edenberg, H. J., Nurnberger, J. I., Rietschel, M., et al. (2011) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,344

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

Vilhjálmsson, B. J., Yang, J., Finucane, H. K., Gusev, A., Lindström, S., Ripke, S., Genovese, G., Loh, P.-R., Bhatia, G., Do, R., et al. (2015) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,303

Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder

Wellcome Trust Case Control Consortium, Ferreira, M. A. R., O'Donovan, M. C., Meng, Y. A., Jones, I. R., Ruderfer, D. M., Jones, L., Fan, J., Kirov, G., Perlis, R. H., et al. (2008) · Nature Genetics

Bipolar Disorder and TreatmentGenetic Associations and Epidemiology

Cited by 1,237

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

Gene expression elucidates functional impact of polygenic risk for schizophrenia

Fromer, M., Roussos, P., Sieberts, S. K., Johnson, J. S., Kavanagh, D. H., Perumal, T. M., Ruderfer, D. M., Oh, E. C., Topol, A., Shah, H. R., et al. (2016) · Nature Neuroscience

Schizophrenia research and treatmentGenetic Associations and Epidemiology

Cited by 1,091

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

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

Talkowski, M. E., Rosenfeld, J. A., Blumenthal, I., Pillalamarri, V., Chiang, C., Heilbut, A., Ernst, C., Hanscom, C., Rossin, E., Lindgren, A. M., et al. (2012) · Cell

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 577

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

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

Genetic basis of proteome variation in yeast

Foss, E. J., Radulovic, D., Shaffer, S. A., Ruderfer, D. M., Bedalov, A., Goodlett, D. R., & Kruglyak, L. (2007) · Nature Genetics

Advanced Proteomics Techniques and ApplicationsFungal and yeast genetics research

Cited by 358

Large eQTL meta-analysis reveals differing patterns between cerebral cortical and cerebellar brain regions

Sieberts, S. K., Perumal, T. M., Carrasquillo, M. M., Allen, M., Reddy, J. S., Hoffman, G. E., Dang, K. K., Calley, J., Ebert, P. J., Eddy, J., et al. (2020) · Scientific Data

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 318

Effect of predicted protein-truncating genetic variants on the human transcriptome

Rivas, M. A., Pirinen, M., Conrad, D. F., Lek, M., Tsang, E. K., Karczewski, K. J., Maller, J. B., Kukurba, K. R., DeLuca, D. S., Fromer, M., et al. (2015) · Science

Genomics and Rare DiseasesRNA Research and Splicing

Cited by 313

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 266

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

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 249

GWAS meta-analysis of suicide attempt: identification of 12 genome-wide significant loci and implication of genetic risks for specific health factors

Docherty, A. R., Mullins, N., Ashley-Koch, A. E., Qin, X., Coleman, J. R. I., Shabalin, A., Kang, J., Murnyak, B., Wendt, F., Adams, M., et al. (2023) · American Journal of Psychiatry

Genetic Associations and EpidemiologySuicide and Self-Harm Studies

Cited by 160