The Encyclopedia of DNA elements (ENCODE): data portal update CA Davis, BC Hitz, CA Sloan, ET Chan, JM Davidson, I Gabdank, ... Nucleic acids research 46 (D1), D794-D801, 2018 | 1704 | 2018 |
Endoreplication: polyploidy with purpose HO Lee, JM Davidson, RJ Duronio Genes & development 23 (21), 2461-2477, 2009 | 639 | 2009 |
ENCODE data at the ENCODE portal CA Sloan, ET Chan, JM Davidson, VS Malladi, JS Strattan, BC Hitz, ... Nucleic acids research 44 (D1), D726-D732, 2016 | 535 | 2016 |
An atlas of dynamic chromatin landscapes in mouse fetal development DU Gorkin, I Barozzi, Y Zhao, Y Zhang, H Huang, AY Lee, B Li, J Chiou, ... Nature 583 (7818), 744-751, 2020 | 272 | 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 | 267 | 2019 |
Resources for the comprehensive discovery of functional RNA elements B Sundararaman, L Zhan, SM Blue, R Stanton, K Elkins, S Olson, X Wei, ... Molecular cell 61 (6), 903-913, 2016 | 143 | 2016 |
A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative V Shashi, K Schoch, R Spillmann, H Cope, QKG Tan, N Walley, L Pena, ... Genetics in Medicine 21 (1), 161-172, 2019 | 77 | 2019 |
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 | 72 | 2018 |
Identification of vertebral fractures by convolutional neural networks to predict nonvertebral and hip fractures: a registry-based cohort study of dual X-ray absorptiometry S Derkatch, C Kirby, D Kimelman, MJ Jozani, JM Davidson, WD Leslie Radiology 293 (2), 405-411, 2019 | 60 | 2019 |
Principles of metadata organization at the ENCODE data coordination center EL Hong, CA Sloan, ET Chan, JM Davidson, VS Malladi, JS Strattan, ... Database 2016, baw001, 2016 | 59 | 2016 |
Yield of whole exome sequencing in undiagnosed patients facing insurance coverage barriers to genetic testing CM Reuter, JN Kohler, D Bonner, D Zastrow, L Fernandez, A Dries, ... Journal of genetic counseling 28 (6), 1107-1118, 2019 | 53 | 2019 |
Ontology application and use at the ENCODE DCC VS Malladi, DT Erickson, NR Podduturi, LD Rowe, ET Chan, JM Davidson, ... Database 2015, bav010, 2015 | 48 | 2015 |
Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling BV Johnson, R Kumar, S Oishi, S Alexander, M Kasherman, MS Vega, ... Biological psychiatry 87 (2), 100-112, 2020 | 45 | 2020 |
Lateral smart-discrete process and devices based on thin-layer silicon-on-insulator T Letavic, J Petruzzello, M Simpson, J Curcio, S Mukherjee, J Davidson, ... Proceedings of the 13th International Symposium on Power Semiconductor …, 2001 | 36 | 2001 |
Further evidence for the involvement of EFL1 in a Shwachman–Diamond-like syndrome and expansion of the phenotypic features QKG Tan, H Cope, RC Spillmann, N Stong, YH Jiang, MT McDonald, ... Molecular Case Studies 4 (5), a003046, 2018 | 33 | 2018 |
Real-time measurements of cAMP production in live Dictyostelium cells A Bagorda, S Das, EC Rericha, D Chen, J Davidson, CA Parent Journal of cell science 122 (21), 3907-3914, 2009 | 32 | 2009 |
Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes LC Burrage, JJ Reynolds, NV Baratang, JB Phillips, J Wegner, ... The American Journal of Human Genetics 104 (3), 422-438, 2019 | 27 | 2019 |
Doctors' age at domestic partnership and parenthood: cohort studies MJ Goldacre, JM Davidson, TW Lambert Journal of the Royal Society of Medicine 105 (9), 390-399, 2012 | 26 | 2012 |
The ENCODE uniform analysis pipelines BC Hitz, JW Lee, O Jolanki, MS Kagda, K Graham, P Sud, I Gabdank, ... Research Square, 2023 | 25 | 2023 |
Systematic mapping of chromatin state landscapes during mouse development DU Gorkin, I Barozzi, Y Zhang, AY Lee, B Li, Y Zhao, A Wildberg, B Ding, ... BioRxiv, 166652, 2017 | 25 | 2017 |