Functional impact of global rare copy number variation in autism spectrum disorders D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico, R Regan, J Conroy, ... Nature 466 (7304), 368-372, 2010 | 2313 | 2010 |
A genome-wide scan for common alleles affecting risk for autism R Anney, L Klei, D Pinto, R Regan, J Conroy, TR Magalhaes, C Correia, ... Human molecular genetics 19 (20), 4072-4082, 2010 | 718 | 2010 |
Casirivimab and imdevimab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial RECOVERY Collaborative Group, PW Horby, M Mafham, L Peto, ... Medrxiv, 2021.06. 15.21258542, 2021 | 548* | 2021 |
Individual common variants exert weak effects on the risk for autism spectrum disorders R Anney, L Klei, D Pinto, J Almeida, E Bacchelli, G Baird, N Bolshakova, ... Human molecular genetics 21 (21), 4781-4792, 2012 | 445 | 2012 |
InnateDB: facilitating systems‐level analyses of the mammalian innate immune response DJ Lynn, GL Winsor, C Chan, N Richard, MR Laird, A Barsky, JL Gardy, ... Molecular systems biology 4 (1), 218, 2008 | 419 | 2008 |
Deep sequencing of 10,000 human genomes A Telenti, LCT Pierce, WH Biggs, J Di Iulio, EHM Wong, MM Fabani, ... Proceedings of the National Academy of Sciences 113 (42), 11901-11906, 2016 | 406 | 2016 |
Incidence of acquired demyelination of the CNS in Canadian children B Banwell, J Kennedy, D Sadovnick, DL Arnold, S Magalhaes, ... Neurology 72 (3), 232-239, 2009 | 394 | 2009 |
Profound perturbation of the metabolome in obesity is associated with health risk ET Cirulli, L Guo, CL Swisher, N Shah, L Huang, LA Napier, EF Kirkness, ... Cell metabolism 29 (2), 488-500. e2, 2019 | 277 | 2019 |
A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah, R Anney, ... Human genetics 131, 565-579, 2012 | 229 | 2012 |
The human noncoding genome defined by genetic diversity J Di Iulio, I Bartha, EHM Wong, HC Yu, V Lavrenko, D Yang, I Jung, ... Nature genetics 50 (3), 333-337, 2018 | 156 | 2018 |
Abnormal B cell memory subsets dominate HIV-specific responses in infected individuals L Kardava, S Moir, N Shah, W Wang, R Wilson, CM Buckner, BH Santich, ... The Journal of clinical investigation 124 (7), 3252-3262, 2014 | 145 | 2014 |
Identification of misclassified ClinVar variants via disease population prevalence N Shah, YCC Hou, HC Yu, R Sainger, CT Caskey, JC Venter, A Telenti The American Journal of Human Genetics 102 (4), 609-619, 2018 | 131 | 2018 |
Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults BA Perkins, CT Caskey, P Brar, E Dec, DS Karow, AM Kahn, YCC Hou, ... Proceedings of the National Academy of Sciences 115 (14), 3686-3691, 2018 | 97 | 2018 |
Towards the identification of a genetic basis for L andau‐K leffner s yndrome J Conroy, PA McGettigan, D McCreary, N Shah, K Collins, B Parry‐Fielder, ... Epilepsia 55 (6), 858-865, 2014 | 70 | 2014 |
Systematic analysis of cell-to-cell expression variation of T lymphocytes in a human cohort identifies aging and genetic associations Y Lu, A Biancotto, F Cheung, E Remmers, N Shah, JP McCoy, JS Tsang Immunity 45 (5), 1162-1175, 2016 | 53 | 2016 |
An unsupervised learning approach to identify novel signatures of health and disease from multimodal data I Shomorony, ET Cirulli, L Huang, LA Napier, RR Heister, M Hicks, ... Genome medicine 12, 1-14, 2020 | 42 | 2020 |
Acetaminophen (paracetamol) use modifies the sulfation of sex hormones IV Cohen, ET Cirulli, MW Mitchell, TJ Jonsson, J Yu, N Shah, TD Spector, ... EBioMedicine 28, 316-323, 2018 | 41 | 2018 |
A crowdsourcing approach for reusing and meta-analyzing gene expression data N Shah, Y Guo, KV Wendelsdorf, Y Lu, R Sparks, JS Tsang Nature biotechnology 34 (8), 803-806, 2016 | 34 | 2016 |
Management of major bleeds in patients with immune thrombocytopenia S Mithoowani, A Cervi, N Shah, R Ejaz, E Sirotich, R Barty, N Li, I Nazy, ... Journal of Thrombosis and Haemostasis 18 (7), 1783-1790, 2020 | 29 | 2020 |
Enrichment, isolation and identification of hydrocarbon degrading bacteria M Udgire, N Shah, M Jadhav International Journal of Current Microbiology and Applied Sciences 4 (6 …, 2015 | 28 | 2015 |