| The mutational constraint spectrum quantified from variation in 141,456 humans KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... Nature 581 (7809), 434-443, 2020 | 8548 | 2020 |
| Genetic effects on gene expression across human tissues GTEx Consortium Lead analysts: Aguet François 1 Brown Andrew A. 2 3 4 Castel ... Nature 550 (7675), 204-213, 2017 | 3667 | 2017 |
| Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ... biorxiv, 531210, 2019 | 1241 | 2019 |
| Dynamic landscape and regulation of RNA editing in mammals MH Tan, Q Li, R Shanmugam, R Piskol, J Kohler, AN Young, KI Liu, ... Nature 550 (7675), 249-254, 2017 | 615 | 2017 |
| 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 | 319 | 2019 |
| The impact of rare variation on gene expression across tissues X Li, Y Kim, EK Tsang, JR Davis, FN Damani, C Chiang, GT Hess, ... Nature 550 (7675), 239-243, 2017 | 283 | 2017 |
| 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 20 (1), 159-163, 2018 | 263 | 2018 |
| Co-expression networks reveal the tissue-specific regulation of transcription and splicing A Saha, Y Kim, ADH Gewirtz, B Jo, C Gao, IC McDowell, BE Engelhardt, ... Genome research 27 (11), 1843-1858, 2017 | 184 | 2017 |
| Impact of the X chromosome and sex on regulatory variation KR Kukurba, P Parsana, B Balliu, KS Smith, Z Zappala, DA Knowles, ... Genome research 26 (6), 768-777, 2016 | 112 | 2016 |
| GRSDB2 and GRS_UTRdb: databases of quadruplex forming G-rich sequences in pre-mRNAs and mRNAs O Kikin, Z Zappala, L D’Antonio, PS Bagga Nucleic acids research 36 (suppl_1), D141-D148, 2007 | 112 | 2007 |
| 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 | 85 | 2018 |
| Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants X Li, A Battle, KJ Karczewski, Z Zappala, DA Knowles, KS Smith, ... The American Journal of Human Genetics 95 (3), 245-256, 2014 | 82 | 2014 |
| Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes JK Goodrich, M Singer-Berk, R Son, A Sveden, J Wood, E England, ... Nature communications 12 (1), 3505, 2021 | 75 | 2021 |
| Identifying cis-mediators for trans-eQTLs across many human tissues using genomic mediation analysis F Yang, J Wang, BL Pierce, LS Chen, F Aguet, KG Ardlie, BB Cummings, ... Genome research 27 (11), 1859-1871, 2017 | 69 | 2017 |
| Population-and individual-specific regulatory variation in Sardinia M Pala, Z Zappala, M Marongiu, X Li, JR Davis, R Cusano, F Crobu, ... Nature genetics 49 (5), 700-707, 2017 | 55 | 2017 |
| Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans S Gudmundsson, KJ Karczewski, LC Francioli, G Tiao, BB Cummings, ... Nature 597 (7874), E3-E4, 2021 | 45 | 2021 |
| Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy KD Kernohan, L Frésard, Z Zappala, T Hartley, KS Smith, J Wagner, H Xu, ... Human mutation 38 (6), 611-614, 2017 | 42 | 2017 |
| Colocalization of Gene Expression and DNA Methylation with Genetic Risk Variants Supports Functional Roles of MUC5B and DSP in Idiopathic Pulmonary Fibrosis R Borie, J Cardwell, IR Konigsberg, CM Moore, W Zhang, SK Sasse, ... American journal of respiratory and critical care medicine 206 (10), 1259-1270, 2022 | 32 | 2022 |
| Non-coding loss-of-function variation in human genomes Z Zappala, SB Montgomery Human heredity 81 (2), 78-87, 2017 | 24 | 2017 |
| PATH-SCAN: a reporting tool for identifying clinically actionable variants R Daneshjou, Z Zappala, K Kukurba, SM Boyle, KE Ormond, TE Klein, ... Biocomputing 2014, 229-240, 2014 | 19 | 2014 |
