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

M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...

Nature 536 (7616), 285-291, 2016

Autorizações: US National Institutes of Health, Canadian Institutes of Health Research …

[PDF] unc.edu

Biological insights from 108 schizophrenia-associated genetic loci

C Pantelis, GN Papadimitriou, S Papiol, E Parkhomenko, MT Pato, ...

Nature 511 (7510), 421-427, 2014

Autorizações: US National Institutes of Health, UK Medical Research Council, Wellcome Trust

[HTML] nejm.org

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

G Genovese, AK Kähler, RE Handsaker, J Lindberg, SA Rose, ...

New England Journal of Medicine 371 (26), 2477-2487, 2014

Autorizações: US National Institutes of Health

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...

Nature 515 (7526), 209-215, 2014

Autorizações: US National Institutes of Health, Howard Hughes Medical Institute, Health …

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

BM Neale, Y Kou, L Liu, A Ma’Ayan, KE Samocha, A Sabo, CF Lin, ...

Nature 485 (7397), 242-245, 2012

Autorizações: US National Institutes of Health

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...

Cell 180 (3), 568-584. e23, 2020

Autorizações: US National Science Foundation, US National Institutes of Health, Autism …

De novo mutations in schizophrenia implicate synaptic networks

M Fromer, AJ Pocklington, DH Kavanagh, HJ Williams, S Dwyer, ...

Nature 506 (7487), 179-184, 2014

Autorizações: US National Institutes of Health, UK Medical Research Council, Wellcome Trust

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

S Ripke, C O'dushlaine, K Chambert, JL Moran, AK Kähler, S Akterin, ...

Nature genetics 45 (10), 1150-1159, 2013

Autorizações: US National Institutes of Health, Danish Council for Strategic Research …

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

V Trubetskoy, AF Pardiñas, T Qi, G Panagiotaropoulou, S Awasthi, ...

Nature 604 (7906), 502-508, 2022

Autorizações: Fundação de Amparo à Pesquisa do Estado de São Paulo, US National Institutes …

A polygenic burden of rare disruptive mutations in schizophrenia

SM Purcell, JL Moran, M Fromer, D Ruderfer, N Solovieff, P Roussos, ...

Nature 506 (7487), 185-190, 2014

Autorizações: US National Institutes of Health, Swedish Research Council, UK Medical …

Modeling linkage disequilibrium increases accuracy of polygenic risk scores

BJ Vilhjálmsson, J Yang, HK Finucane, A Gusev, S Lindström, S Ripke, ...

The american journal of human genetics 97 (4), 576-592, 2015

Autorizações: US National Institutes of Health, Danish Council for Independent Research …

A systematic survey of loss-of-function variants in human protein-coding genes

DG MacArthur, S Balasubramanian, A Frankish, N Huang, J Morris, ...

Science 335 (6070), 823-828, 2012

Autorizações: Swiss National Science Foundation, US National Institutes of Health, British …

Gene expression elucidates functional impact of polygenic risk for schizophrenia

M Fromer, P Roussos, SK Sieberts, JS Johnson, DH Kavanagh, ...

Nature neuroscience 19 (11), 1442-1453, 2016

Autorizações: US National Institutes of Health, US Department of Veterans Affairs

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

CR Marshall, DP Howrigan, D Merico, B Thiruvahindrapuram, W Wu, ...

Nature genetics 49 (1), 27-35, 2017

Autorizações: US National Institutes of Health, UK Medical Research Council, National …

Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases

A Gusev, SH Lee, G Trynka, H Finucane, BJ Vilhjálmsson, H Xu, C Zang, ...

The American Journal of Human Genetics 95 (5), 535-552, 2014

Autorizações: US National Institutes of Health, Australian Research Council, National …

Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth

M Fromer, JL Moran, K Chambert, E Banks, SE Bergen, DM Ruderfer, ...

The American Journal of Human Genetics 91 (4), 597-607, 2012

Autorizações: US National Institutes of Health

[PDF] cell.com

Genomic dissection of bipolar disorder and schizophrenia, including 28 subphenotypes

DM Ruderfer, S Ripke, A McQuillin, J Boocock, EA Stahl, JMW Pavlides, ...

Cell 173 (7), 1705-1715. e16, 2018

Autorizações: US National Institutes of Health, National Health and Medical Research …

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

G Genovese, M Fromer, EA Stahl, DM Ruderfer, K Chambert, M Landén, ...

Nature neuroscience 19 (11), 1433-1441, 2016

Autorizações: US National Institutes of Health

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

MA Rivas, M Pirinen, DF Conrad, M Lek, EK Tsang, KJ Karczewski, ...

Science 348 (6235), 666-669, 2015

Autorizações: Swiss National Science Foundation, US National Institutes of Health, Natural …