| ChIP-Seq and RNA-Seq Reveal an AmrZ-Mediated Mechanism for Cyclic di-GMP Synthesis and Biofilm Development by Pseudomonas aeruginosa CJ Jones, D Newsom, B Kelly, Y Irie, LK Jennings, B Xu, DH Limoli, ... PLoS pathogens 10 (3), e1003984, 2014 | 179 | 2014 |
| Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale … BJ Kelly, JR Fitch, Y Hu, DJ Corsmeier, H Zhong, AN Wetzel, ... Genome biology 16 (1), 6, 2015 | 143 | 2015 |
| Multiomics in primary and metastatic breast tumors from the AURORA US network finds microenvironment and epigenetic drivers of metastasis S Garcia-Recio, T Hinoue, GL Wheeler, BJ Kelly, AC Garrido-Castro, ... Nature Cancer 4 (1), 128-147, 2023 | 42 | 2023 |
| A de novo nonsense mutation in ASXL3 shared by siblings with Bainbridge–Ropers syndrome DC Koboldt, TM Mosher, BJ Kelly, E Sites, D Bartholomew, SE Hickey, ... Molecular Case Studies 4 (3), a002410, 2018 | 39 | 2018 |
| Whole exome sequencing identifies candidate genes associated with hereditary predisposition to uveal melanoma MH Abdel-Rahman, KM Sample, R Pilarski, T Walsh, T Grosel, ... Ophthalmology 127 (5), 668-678, 2020 | 38 | 2020 |
| Detection of brain somatic variation in epilepsy‐associated developmental lesions TA Bedrosian, KE Miller, OE Grischow, KM Schieffer, S LaHaye, H Yoon, ... Epilepsia 63 (8), 1981-1997, 2022 | 36 | 2022 |
| Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder SGM Frints, A Ozanturk, G Rodriguez Criado, U Grasshoff, B De Hoon, ... Molecular psychiatry 24 (11), 1748-1768, 2019 | 27 | 2019 |
| HrrF is the Fur-regulated small RNA in nontypeable Haemophilus influenzae EA Santana, A Harrison, X Zhang, BD Baker, BJ Kelly, P White, Y Liu, ... PLoS One 9 (8), e105644, 2014 | 26 | 2014 |
| Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population JBS Gaither, GE Lammi, JL Li, DM Gordon, HC Kuck, BJ Kelly, JR Fitch, ... GigaScience 10 (4), giab023, 2021 | 20 | 2021 |
| Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience CR Miller, K Lee, RB Pfau, SC Reshmi, DJ Corsmeier, S Hashimoto, ... Molecular Case Studies 6 (3), a005231, 2020 | 19 | 2020 |
| YAP1-FAM118B fusion defines a rare subset of childhood and young adulthood meningiomas KM Schieffer, V Agarwal, S LaHaye, KE Miller, DC Koboldt, T Lichtenberg, ... The American journal of surgical pathology 45 (3), 329-340, 2021 | 17 | 2021 |
| Discovery of clinically relevant fusions in pediatric cancer S LaHaye, JR Fitch, KJ Voytovich, AC Herman, BJ Kelly, GE Lammi, ... BMC Genomics 22 (1), 1-16, 2021 | 16 | 2021 |
| Evidence of pioneer factor activity of an oncogenic fusion transcription factor BD Sunkel, M Wang, S LaHaye, BJ Kelly, JR Fitch, FG Barr, P White, ... IScience 24 (8), 2021 | 16 | 2021 |
| In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis DC Koboldt, RD Kastury, MA Waldrop, BJ Kelly, TM Mosher, ... Molecular Case Studies 4 (5), a003160, 2018 | 16 | 2018 |
| Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism A Tsutiya, Y Nakano, E Hansen-Kiss, B Kelly, M Nishihara, Y Goshima, ... Scientific reports 7 (1), 16812, 2017 | 15 | 2017 |
| Characterization of 1H NMR spectroscopic data and the generation of synthetic validation sets PE Anderson, ML Raymer, BJ Kelly, NV Reo, NJ DelRaso, TE Doom Bioinformatics 25 (22), 2992-3000, 2009 | 14 | 2009 |
| High early death rates, treatment resistance, and short survival of Black adolescents and young adults with AML KT Larkin, D Nicolet, BJ Kelly, K Mrózek, S LaHaye, KE Miller, S Wijeratne, ... Blood Advances 6 (19), 5570-5581, 2022 | 12 | 2022 |
| Gastroblastoma with a novel EWSR1‐CTBP1 fusion presenting in adolescence SC Koo, S LaHaye, BP Kovari, KM Schieffer, MA Ranalli, JH Aldrink, ... Genes, Chromosomes and Cancer 60 (9), 640-646, 2021 | 11 | 2021 |
| Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma KM Schieffer, E Varga, KE Miller, V Agarwal, DC Koboldt, P Brennan, ... European journal of medical genetics 62 (8), 103701, 2019 | 11 | 2019 |
| Exome sequencing in multiplex families with left-sided cardiac defects has high yield for disease gene discovery DM Gordon, D Cunningham, G Zender, PJ Lawrence, JS Penaloza, H Lin, ... PLoS genetics 18 (6), e1010236, 2022 | 10 | 2022 |
