| Genetic effects on gene expression across human tissues F Aguet, KG Ardlie, BB Cummings, ET Gelfand, G Getz, K Hadley, ... Nature 550 (7675), 204-213, 2017 | 3563 | 2017 |
| The GTEx Consortium atlas of genetic regulatory effects across human tissues GTEx Consortium Science 369 (6509), 1318-1330, 2020 | 3099 | 2020 |
| The impact of sex on gene expression across human tissues M Oliva, M Muńoz-Aguirre, S Kim-Hellmuth, V Wucher, ADH Gewirtz, ... Science 369 (6509), eaba3066, 2020 | 813 | 2020 |
| Directed evolution using dCas9-targeted somatic hypermutation in mammalian cells GT Hess, L Frésard, K Han, CH Lee, A Li, KA Cimprich, SB Montgomery, ... Nature Methods 13 (12), 1036-1042, 2016 | 531 | 2016 |
| A quantitative proteome map of the human body L Jiang, M Wang, S Lin, R Jian, X Li, J Chan, G Dong, H Fang, ... Cell 183 (1), 269-283. e19, 2020 | 349 | 2020 |
| 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 | 301 | 2019 |
| Single-cell epigenomic analyses implicate candidate causal variants at inherited risk loci for Alzheimer’s and Parkinson’s diseases MR Corces, A Shcherbina, S Kundu, MJ Gloudemans, L Frésard, ... Nature genetics 52 (11), 1158-1168, 2020 | 281 | 2020 |
| Long-read genome sequencing identifies causal structural variation in a Mendelian disease JD Merker, AM Wenger, T Sneddon, M Grove, Z Zappala, L Fresard, ... GENETICS in MEDICINE, 2017 | 255 | 2017 |
| Molecular transducers of physical activity consortium (MoTrPAC): mapping the dynamic responses to exercise JA Sanford, CD Nogiec, ME Lindholm, JN Adkins, D Amar, S Dasari, ... Cell 181 (7), 1464-1474, 2020 | 212 | 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 | 138 | 2021 |
| 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 | 131 | 2020 |
| An efficient multiple-testing adjustment for eQTL studies that accounts for linkage disequilibrium between variants JR Davis, L Fresard, DA Knowles, M Pala, CD Bustamante, A Battle, ... The American Journal of Human Genetics 98 (1), 216-224, 2016 | 122 | 2016 |
| Epigenetics and phenotypic variability: some interesting insights from birds L Frésard, M Morisson, JM Brun, A Collin, B Pain, F Minvielle, F Pitel Genetics Selection Evolution 45, 1-12, 2013 | 105 | 2013 |
| Detection of aberrant gene expression events in RNA sequencing data VA Yépez, C Mertes, MF Müller, D Klaproth-Andrade, L Wachutka, ... Nature protocols 16 (2), 1276-1296, 2021 | 99 | 2021 |
| Third Report on Chicken Genes and Chromosomes 2015Prepared by M Schmid, J Smith, DW Burt, BL Aken, PB Antin, AL Archibald, C Ashwell, ... Cytogenetic and genome research 145 (2), 78-179, 2015 | 96 | 2015 |
| Biallelic mutations in ATP5F1D, which encodes a subunit of ATP synthase, cause a metabolic disorder M Oláhová, WH Yoon, K Thompson, S Jangam, L Fernandez, ... The American Journal of Human Genetics 102 (3), 494-504, 2018 | 81 | 2018 |
| Transcriptome-wide investigation of genomic imprinting in chicken L Frésard, S Leroux, B Servin, D Gourichon, P Dehais, M San Cristobal, ... Nucleic acids research 42 (6), 3768-3782, 2014 | 79 | 2014 |
| Diagnosing rare diseases after the exome L Frésard, SB Montgomery Molecular Case Studies 4 (6), a003392, 2018 | 74 | 2018 |
| 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 | 59 | 2021 |
| De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation D Mao, CM Reuter, MRZ Ruzhnikov, AE Beck, EG Farrow, LT Emrick, ... The American Journal of Human Genetics 106 (4), 570-583, 2020 | 57 | 2020 |
Stephen B MontgomeryProfessor, Pathology, Genetics and Biomedical Data Science, Stanford UniversityVerified email at stanford.edu
