| Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nature medicine 25 (6), 911-919, 2019 | 269 | 2019 |
| Transcriptomic signatures across human tissues identify functional rare genetic variation NM Ferraro, BJ Strober, J Einson, NS Abell, F Aguet, AN Barbeira, ... Science 369 (6509), eaaz5900, 2020 | 117 | 2020 |
| Population-scale tissue transcriptomics maps long non-coding RNAs to complex disease OM de Goede, DC Nachun, NM Ferraro, MJ Gloudemans, AS Rao, ... Cell 184 (10), 2633-2648. e19, 2021 | 112 | 2021 |
| Properties of structural variants and short tandem repeats associated with gene expression and complex traits D Jakubosky, M D’Antonio, MJ Bonder, C Smail, MKR Donovan, ... Nature communications 11 (1), 2927, 2020 | 78 | 2020 |
| De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population MD Kessler, DP Loesch, JA Perry, NL Heard-Costa, D Taliun, BE Cade, ... Proceedings of the National Academy of Sciences 117 (5), 2560-2569, 2020 | 66 | 2020 |
| Genomic answers for children: Dynamic analyses of> 1000 pediatric rare disease genomes ASA Cohen, EG Farrow, AT Abdelmoity, JT Alaimo, SM Amudhavalli, ... Genetics in Medicine 24 (6), 1336-1348, 2022 | 54 | 2022 |
| Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ... Nature Genetics 53 (3), 313-321, 2021 | 47 | 2021 |
| Proficiency testing of standardized samples shows very high interlaboratory agreement for clinical next-generation sequencing–based oncology assays JD Merker, K Devereaux, AJ Iafrate, S Kamel-Reid, AS Kim, JT Moncur, ... Archives of pathology & laboratory medicine 143 (4), 463-471, 2019 | 36 | 2019 |
| Discovery and quality analysis of a comprehensive set of structural variants and short tandem repeats D Jakubosky, EN Smith, M D’Antonio, M Jan Bonder, ... Nature communications 11 (1), 2928, 2020 | 34 | 2020 |
| Nonsense-mediated decay is highly stable across individuals and tissues NA Teran, DC Nachun, T Eulalio, NM Ferraro, C Smail, MA Rivas, ... The American Journal of Human Genetics 108 (8), 1401-1408, 2021 | 22 | 2021 |
| Recruiting primary care practices for practice-based research: a case study of a group-randomized study (TRANSLATE CKD) recruitment process NY Loskutova, C Smail, K Ajayi, WD Pace, CH Fox Family practice 35 (1), 111-116, 2018 | 22 | 2018 |
| Preventing the voltage drop: keeping practice-based research network (PBRN) practices engaged in studies BP Yawn, A Dietrich, D Graham, S Bertram, M Kurland, S Madison, ... The Journal of the American Board of Family Medicine 27 (1), 123-135, 2014 | 21 | 2014 |
| Undiagnosed Diseases Network; Care4Rare Canada Consortium. Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts L Frésard, C Smail, NM Ferraro, NA Teran, X Li, KS Smith, D Bonner, ... Nat Med 25 (6), 911-919, 2019 | 18 | 2019 |
| Effects of multicomponent primary care-based intervention on immunization rates and missed opportunities to vaccinate adults NY Loskutova, C Smail, E Callen, EW Staton, N Nazir, B Webster, ... BMC family practice 21, 1-10, 2020 | 15 | 2020 |
| Systematic assessment of regulatory effects of human disease variants in pluripotent cells MJ Bonder, C Smail, MJ Gloudemans, L Frésard, D Jakubosky, ... bioRxiv, 784967, 2019 | 14 | 2019 |
| Diverse transcriptomic signatures across human tissues identify functional rare genetic variation NM Ferraro, BJ Strober, J Einson, X Li, F Aguet, AN Barbeira, SE Castel, ... BioRxiv, 786053, 2019 | 14 | 2019 |
| Missed opportunities for improving practice performance in adult immunizations: a meta-narrative review of the literature N Loskutova, C Smail, B Webster, K Ajayi, J Wood, J Carroll BMC family practice 18, 1-9, 2017 | 11 | 2017 |
| Integration of rare expression outlier-associated variants improves polygenic risk prediction C Smail, NM Ferraro, Q Hui, MG Durrant, M Aguirre, Y Tanigawa, ... The American Journal of Human Genetics 109 (6), 1055-1064, 2022 | 9 | 2022 |
| Protocol for the asthma tools study: a pragmatic practice-based research network trial BP Yawn, S Bertram, M Kurland, P Wollan, D Graham, D Littlefield, ... Pragmatic and Observational Research, 7-18, 2013 | 8 | 2013 |
| Active remodeling of the chromatin landscape directs extravillous trophoblast cell lineage development KM Varberg, EM Dominguez, B Koseva, RP McNally, A Moreno-Irusta, ... medRxiv, 2022.05. 25.22275520, 2022 | 4 | 2022 |
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford UniversityVerified email at stanford.edu
