| Clonal competition with alternating dominance in multiple myeloma JJ Keats, M Chesi, JB Egan, VM Garbitt, SE Palmer, E Braggio, ... Blood, The Journal of the American Society of Hematology 120 (5), 1067-1076, 2012 | 777 | 2012 |
| Maple syrup urine disease: mechanisms and management PR Blackburn, JM Gass, FPE Vairo, KM Farnham, HK Atwal, S Macklin, ... The application of clinical genetics, 57-66, 2017 | 200 | 2017 |
| Pathogenic DDX3X mutations impair RNA metabolism and neurogenesis during fetal cortical development AL Lennox, ML Hoye, R Jiang, BL Johnson-Kerner, LA Suit, ... Neuron 106 (3), 404-420. e8, 2020 | 144 | 2020 |
| Bi-allelic alterations in AEBP1 lead to defective collagen assembly and connective tissue structure resulting in a variant of Ehlers-Danlos syndrome PR Blackburn, Z Xu, KE Tumelty, RW Zhao, WJ Monis, KG Harris, ... The American Journal of Human Genetics 102 (4), 696-705, 2018 | 129 | 2018 |
| The CRISPR system—keeping zebrafish gene targeting fresh PR Blackburn, JM Campbell, KJ Clark, SC Ekker Zebrafish 10 (1), 116-118, 2013 | 127 | 2013 |
| Activation of P-TEFb by androgen receptor-regulated enhancer RNAs in castration-resistant prostate cancer Y Zhao, L Wang, S Ren, L Wang, PR Blackburn, MS McNulty, X Gao, ... Cell reports 15 (3), 599-610, 2016 | 121 | 2016 |
| KAT6A Syndrome: genotype–phenotype correlation in 76 patients with pathogenic KAT6A variants J Kennedy, D Goudie, E Blair, K Chandler, S Joss, V McKay, A Green, ... Genetics in medicine 21 (4), 850-860, 2019 | 89 | 2019 |
| tp53 deficiency causes a wide tumor spectrum and increases embryonal rhabdomyosarcoma metastasis in zebrafish MS Ignatius, MN Hayes, FE Moore, Q Tang, SP Garcia, PR Blackburn, ... Elife 7, e37202, 2018 | 59 | 2018 |
| CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum EDH Konrad, N Nardini, A Caliebe, I Nagel, D Young, G Horvath, ... Genetics in Medicine 21 (12), 2723-2733, 2019 | 56 | 2019 |
| Effects of Salivary Gland Hypertrophy Virus on the Reproductive Behavior of the Housefly, Musca domestica VU Lietze, CJ Geden, P Blackburn, DG Boucias Applied and Environmental Microbiology 73 (21), 6811-6818, 2007 | 50 | 2007 |
| No evidence of XMRV in prostate cancer cohorts in the Midwestern United States T Sakuma, S Hué, KA Squillace, JM Tonne, PR Blackburn, S Ohmine, ... Retrovirology 8, 1-11, 2011 | 48 | 2011 |
| FusX: a rapid one-step transcription activator-like effector assembly system for genome science AC Ma, MS McNulty, TL Poshusta, JM Campbell, G Martínez-Gálvez, ... Human gene therapy 27 (6), 451-463, 2016 | 47 | 2016 |
| De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability P Nicola, PR Blackburn, KJ Rasmussen, NL Bertsch, EW Klee, L Hasadsri, ... American journal of medical genetics Part A 179 (4), 570-578, 2019 | 44 | 2019 |
| Missense variants in the histone acetyltransferase complex component gene TRRAP cause autism and syndromic intellectual disability B Cogné, S Ehresmann, E Beauregard-Lacroix, J Rousseau, T Besnard, ... The American Journal of Human Genetics 104 (3), 530-541, 2019 | 43 | 2019 |
| Holocarboxylase synthetase deficiency pre and post newborn screening TR Donti, PR Blackburn, PS Atwal Molecular genetics and metabolism reports 7, 40-44, 2016 | 42 | 2016 |
| PIK3CA mutations in lipomatosis of nerve with or without nerve territory overgrowth PR Blackburn, D Milosevic, T Marek, AL Folpe, BM Howe, RJ Spinner, ... Modern Pathology 33 (3), 420-430, 2020 | 37 | 2020 |
| Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, F Pinto e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 23 (3), 498-507, 2021 | 33 | 2021 |
| RNA sequencing identifies a novel USP9X‐USP6 promoter swap gene fusion in a primary aneurysmal bone cyst PR Blackburn, JI Davila, RA Jackson, N Fadra, MA Atiq, BA Pitel, AA Nair, ... Genes, Chromosomes and Cancer 58 (8), 589-594, 2019 | 33 | 2019 |
| PCNT point mutations and familial intracranial aneurysms O Lorenzo-Betancor, PR Blackburn, E Edwards, R Vázquez-do-Campo, ... Neurology 91 (23), e2170-e2181, 2018 | 32 | 2018 |
| TALEN-mediated mutagenesis and genome editing ACH Ma, Y Chen, PR Blackburn, SC Ekker Zebrafish: Methods and Protocols, 17-30, 2016 | 31 | 2016 |
