Fromer, Menachem

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

Clonal hematopoiesis and blood-cancer risk inferred from blood DNA sequence

Genovese, G., Kähler, A. K., Handsaker, R. E., Lindberg, J., Rose, S. A., Bakhoum, S. F., Chambert, K., Mick, E., Neale, B. M., Fromer, M., et al. (2014) · New England Journal of Medicine

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 3,531

Synaptic, transcriptional and chromatin genes disrupted in autism

Study, T. D., De Rubeis, S., Autism, H. M. C. F., UK10K Consortium, The Autism Sequencing Consortium, He, X., Goldberg, A. P., Poultney, C. S., Samocha, K., Ercument Cicek, A., et al. (2014) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,746

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. (2018) · Cell

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,323

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

Cited by 2,321

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,734

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

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

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

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

MacArthur, D. G., Balasubramanian, S., Frankish, A., Huang, N., Morris, J., Walter, K., Jostins, L., Habegger, L., Pickrell, J. K., Montgomery, S. B., et al. (2012) · Science

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 1,272

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

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

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

Gusev, A., Lee, S. H., Trynka, G., Finucane, H., Vilhjálmsson, B. J., Xu, H., Zang, C., Ripke, S., Bulik-Sullivan, B., Stahl, E., et al. (2014) · The American Journal of Human Genetics

Genetic Associations and EpidemiologyGenomics and Chromatin Dynamics

Cited by 544

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

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

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

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

Lim, E. T., Uddin, M., De Rubeis, S., Chan, Y., Kamumbu, A. S., Zhang, X., D'Gama, A. M., Kim, S. N., Hill, R. S., Goldberg, A. P., et al. (2017) · Nature Neuroscience

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 299

Increased Frequency of De Novo Copy Number Variants in Congenital Heart Disease by Integrative Analysis of Single Nucleotide Polymorphism Array and Exome Sequence Data

Glessner, J. T., Bick, A. G., Ito, K., Homsy, J. G., Rodriguez-Murillo, L., Fromer, M., Mazaika, E., Vardarajan, B., Italia, M., Leipzig, J., et al. (2014) · Circulation Research

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 268

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

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