| Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... Science 347 (6229), 1436-1441, 2015 | 1060 | 2015 |
| Diagnostic utility of exome sequencing for kidney disease EE Groopman, M Marasa, S Cameron-Christie, S Petrovski, VS Aggarwal, ... New England Journal of Medicine 380 (2), 142-151, 2019 | 703 | 2019 |
| Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou, L Bier, E Spiegel, ... The Lancet 393 (10173), 758-767, 2019 | 555 | 2019 |
| An exome sequencing study to assess the role of rare genetic variation in pulmonary fibrosis S Petrovski, JL Todd, MT Durheim, Q Wang, JW Chien, FL Kelly, ... American journal of respiratory and critical care medicine 196 (1), 82-93, 2017 | 234 | 2017 |
| Ultra-rare genetic variation in common epilepsies: a case-control sequencing study AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ... The Lancet Neurology 16 (2), 135-143, 2017 | 186 | 2017 |
| Annotating pathogenic non-coding variants in genic regions S Gelfman, Q Wang, KM McSweeney, Z Ren, F La Carpia, M Halvorsen, ... Nature communications 8 (1), 236, 2017 | 149 | 2017 |
| Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures S Petrovski, S Küry, CT Myers, K Anyane-Yeboa, B Cogné, M Bialer, F Xia, ... The American Journal of Human Genetics 98 (5), 1001-1010, 2016 | 130 | 2016 |
| The burden of candidate pathogenic variants for kidney and genitourinary disorders emerging from exome sequencing HM Rasouly, EE Groopman, R Heyman-Kantor, DA Fasel, A Mitrotti, ... Annals of internal medicine 170 (1), 11-21, 2019 | 78 | 2019 |
| De novo mutations in PPP3CA cause severe neurodevelopmental disease with seizures CT Myers, N Stong, EI Mountier, KL Helbig, S Freytag, JE Sullivan, ... The American Journal of Human Genetics 101 (4), 516-524, 2017 | 62 | 2017 |
| ATAV: a comprehensive platform for population-scale genomic analyses Z Ren, G Povysil, JA Hostyk, H Cui, N Bhardwaj, DB Goldstein BMC bioinformatics 22, 1-15, 2021 | 36 | 2021 |
| A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations X Zhu, R Padmanabhan, B Copeland, J Bridgers, Z Ren, S Kamalakaran, ... PLoS genetics 13 (11), e1007104, 2017 | 35 | 2017 |
| Phenotypic analysis of 303 multiplex families with common epilepsies Epi4K Consortium Brain 140 (8), 2144-2156, 2017 | 35 | 2017 |
| Vianney de Jong ET Cirulli, BN Lasseigne, S Petrovski, PC Sapp, PA Dion, CS Leblond, ... JM, 2015 | 30 | 2015 |
| A new approach for rare variation collapsing on functional protein domains implicates specific genic regions in ALS S Gelfman, S Dugger, CAM Moreno, Z Ren, CJ Wolock, NA Shneider, ... Genome research 29 (5), 809-818, 2019 | 27 | 2019 |
| Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain PM Casillas-Espinosa, KL Powell, M Zhu, CR Campbell, JM Maia, Z Ren, ... PLoS One 12 (7), e0179924, 2017 | 24 | 2017 |
| Association of ultra‐rare coding variants with genetic generalized epilepsy: a case–control whole exome sequencing study M Koko, JE Motelow, KE Stanley, DR Bobbili, RS Dhindsa, P May, ... Epilepsia 63 (3), 723-735, 2022 | 14 | 2022 |
| Genetic insights into childhood-onset schizophrenia: The yield of clinical exome sequencing A Alkelai, L Greenbaum, S Shohat, G Povysil, A Malakar, Z Ren, ... Schizophrenia Research 252, 138-145, 2023 | 9 | 2023 |
| Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data EPG Project, Epi4K Consortium, EuroEPINOMICS-RES Consortium European Journal of Human Genetics 25 (7), 894, 2017 | 7 | 2017 |
| Regional collapsing of rare variation implicates specific genic regions in ALS S Gelfman, S Dugger, CA Martins Moreno, Z Ren, CJ Wolock, ... BioRxiv, 375774, 2018 | 4 | 2018 |
| Rare variant analyses validate known ALS genes in a multi-ethnic population and identifies ANTXR2 as a candidate in PLS TD Pottinger, JE Motelow, G Povysil, CAM Moreno, Z Ren, H Phatnani, ... BMC genomics 25 (1), 651, 2024 | 1 | 2024 |