| An integrated map of genetic variation from 1,092 human genomes 1000 Genomes Project Consortium Nature 491 (7422), 56, 2012 | 8287 | 2012 |
| WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta CM Laine, KS Joeng, PM Campeau, R Kiviranta, K Tarkkonen, M Grover, ... New England Journal of Medicine 368 (19), 1809-1816, 2013 | 488* | 2013 |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel O Delaneau, J Marchini Nature communications 5 (1), 3934, 2014 | 443 | 2014 |
| The genetic basis of DOORS syndrome: an exome-sequencing study PM Campeau, D Kasperaviciute, JT Lu, LC Burrage, C Kim, M Hori, ... The Lancet Neurology 13 (1), 44-58, 2014 | 289 | 2014 |
| Emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ... Cell 184 (10), 2587-2594. e7, 2021 | 274 | 2021 |
| Measurement of residual-stress distribution by the incremental hole-drilling method A Niku-Lari, J Lu, JF Flavenot Journal of Mechanical Working Technology 11 (2), 167-188, 1985 | 245 | 1985 |
| Long-term COVID-19 symptoms in a large unselected population ET Cirulli, KM Schiabor Barrett, S Riffle, A Bolze, I Neveux, S Dabe, ... medrxiv, 2020.10. 07.20208702, 2020 | 176 | 2020 |
| A recurrent PDGFRB mutation causes familial infantile myofibromatosis YH Cheung, T Gayden, PM Campeau, CA LeDuc, D Russo, VH Nguyen, ... The American Journal of Human Genetics 92 (6), 996-1000, 2013 | 160 | 2013 |
| Population genetic screening efficiently identifies carriers of autosomal dominant diseases JJ Grzymski, G Elhanan, JA Morales Rosado, E Smith, KA Schlauch, ... Nature medicine 26 (8), 1235-1239, 2020 | 154 | 2020 |
| Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts ET Cirulli, S White, RW Read, G Elhanan, WJ Metcalf, F Tanudjaja, ... Nature communications 11 (1), 542, 2020 | 146 | 2020 |
| Thin collagen film scaffolds for retinal epithelial cell culture JT Lu, CJ Lee, SF Bent, HA Fishman, EE Sabelman Biomaterials 28 (8), 1486-1494, 2007 | 145 | 2007 |
| Yunis-Varon syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase PM Campeau, GM Lenk, JT Lu, Y Bae, L Burrage, P Turnpenny, ... The American Journal of Human Genetics 92 (5), 781-791, 2013 | 142 | 2013 |
| Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome PM Campeau, JC Kim, JT Lu, JA Schwartzentruber, OA Abdul-Rahman, ... The American Journal of Human Genetics 90 (2), 282-289, 2012 | 141 | 2012 |
| Variations in KCNQ1 are associated with type 2 diabetes and beta cell function in a Chinese population C Hu, C Wang, R Zhang, X Ma, J Wang, J Lu, W Qin, Y Bao, K Xiang, ... Diabetologia 52, 1322-1325, 2009 | 138 | 2009 |
| Genomic epidemiology identifies emergence and rapid transmission of SARS-CoV-2 B. 1.1. 7 in the United States NL Washington, K Gangavarapu, M Zeller, A Bolze, ET Cirulli, ... MedRxiv, 2021 | 105 | 2021 |
| An integrative variant analysis pipeline for accurate genotype/haplotype inference in population NGS data Y Wang, J Lu, J Yu, RA Gibbs, F Yu Genome research 23 (5), 833-842, 2013 | 102 | 2013 |
| The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms PM Campeau, JT Lu, BC Dawson, IFAC Fokkema, SP Robertson, ... Human mutation 33 (11), 1520-1525, 2012 | 93 | 2012 |
| Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis PM Campeau, JT Lu, G Sule, MM Jiang, Y Bae, S Madan, W Högler, ... Human molecular genetics 21 (22), 4904-4909, 2012 | 91 | 2012 |
| SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads A Bolze, S Luo, S White, ET Cirulli, D Wyman, A Dei Rossi, H Machado, ... Cell Reports Medicine 3 (3), 2022 | 86 | 2022 |
| Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM5 Mutation JR Shapiro, C Lietman, M Grover, JT Lu, SCS Nagamani, BC Dawson, ... Journal of Bone and Mineral Research 28 (7), 1523-1530, 2013 | 85 | 2013 |
