| Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... The American Journal of Human Genetics 102 (5), 832-844, 2018 | 286 | 2018 |
| Synergistic genetic interactions between Pkhd1 and Pkd1 result in an ARPKD-like phenotype in murine models RJ Olson, K Hopp, H Wells, JM Smith, J Furtado, MM Constans, ... Journal of the American Society of Nephrology 30 (11), 2113-2127, 2019 | 46 | 2019 |
| 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 | 37 | 2021 |
| Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses DT Kobayashi, RJ Olson, L Sly, CJ Swanson, B Chung, N Naryshkin, ... PLoS One 6 (8), e24269, 2011 | 30 | 2011 |
| HALT Progression of Polycystic Kidney Disease Group; Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease: Monoallelic mutations to DNAJB11 cause atypical … E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... Am J Hum Genet 102 (832-844), 29706351, 2018 | 27 | 2018 |
| Childhood-onset dystonia-causing KMT2B variants result in a distinctive genomic hypermethylation profile A Ciolfi, A Foroutan, A Capuano, L Pedace, L Travaglini, S Pizzi, ... Clinical epigenetics 13 (1), 157, 2021 | 25 | 2021 |
| UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly RE Schnur, S Yousaf, J Liu, WK Chung, L Rhodes, M Marble, ... Genetics in Medicine 23 (9), 1624-1635, 2021 | 9 | 2021 |
| HDAC9 structural variants disrupting TWIST1 transcriptional regulation lead to craniofacial and limb malformations N Hirsch, I Dahan, E D'haene, M Avni, S Vergult, M Vidal-García, P Magini, ... Genome Research 32 (7), 1242-1253, 2022 | 8 | 2022 |
| Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 HC Happ, LG Sadleir, M Zemel, G de Valles-Ibáñez, MS Hildebrand, ... Neurology 100 (6), e603-e615, 2023 | 7 | 2023 |
| De novo PBX1 variant in a patient with glaucoma, kidney anomalies, and developmental delay: An expansion of the CAKUTHED phenotype SL Safgren, RJ Olson, F Pinto e Vairo, ED Bothun, C Hanna, EW Klee, ... American Journal of Medical Genetics Part A 188 (3), 919-925, 2022 | 6 | 2022 |
| Recurrent ganglioneuroma in PTPN11‐associated Noonan syndrome: A case report and literature review JA Morales‐Rosado, H Singh, RJ Olson, BT Larsen, MM Hager, EW Klee, ... American Journal of Medical Genetics Part A 185 (6), 1883-1887, 2021 | 4 | 2021 |
| Genkyst Study, G., Group, HP o. PKD, Consortium for Radiologic Imaging Studies of Polycystic Kidney, D., & Harris, PC (2018). Monoallelic Mutations to DNAJB11 Cause Atypical … E Cornec-Le Gall, RJ Olson, W Besse, CM Heyer, VG Gainullin, JM Smith, ... Am J Hum Genet 102 (5), 832-844, 0 | 4 | |
| Development and applications of a regional environmental data base for southeastern United States RJ Olson, FG Goff Proceedings of the... Biennial International CODATA Conference, 1977 | 3 | 1977 |
| Development and applications of spatial data resources in energy related assessment and planning RJ Olson, FG Goff, JS Olson NASA STI/Recon Technical Report N 77, 23609, 1976 | 3 | 1976 |
| Vitamin d assays JF Zielinski, RJ Olson, MC Mullenix US Patent App. 13/826,747, 2014 | 2 | 2014 |
| Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies JD Stegmann, JC Kalanithy, GC Dworschak, N Ishorst, E Mingardo, ... npj Genomic Medicine 9 (1), 18, 2024 | 1 | 2024 |
| Impact of integrated translational research on clinical exome sequencing EW Klee, MA Cousin, FP e Vairo, JA Morales-Rosado, EL Macke, ... Genetics in Medicine 25 (2), 2023 | 1 | 2023 |
| Detection of outlier methylation from bisulfite sequencing data with novel Bioconductor package BOREALIS GR Oliver, G Jenkinson, RJ Olson, LE Schultz-Rogers, EW Klee bioRxiv, 2022.05. 19.492700, 2022 | 1 | 2022 |
| Semiautomated approach focused on new genomic information results in time and effort-efficient reannotation of negative exome data A Ferrer, P Duffy, RJ Olson, MA Meiners, L Schultz-Rogers, EL Macke, ... Human genetics 143 (5), 649-666, 2024 | | 2024 |
| Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease N Fadra, LE Schultz-Rogers, P Chanana, MA Cousin, EL Macke, A Ferrer, ... BMC genomics 25 (1), 371, 2024 | | 2024 |
