| 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 | 182 | 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 | 156 | 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 | 88 | 2023 |
| 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 | 50 | 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 | 46 | 2022 |
| 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 | 43 | 2018 |
| 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 | 30 | 2019 |
| 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 | 28 | 2021 |
| 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 |
| 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 | 25 | 2022 |
| 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 | 25 | 2021 |
| 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 | 25 | 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 | 24 | 2020 |
| 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 | 23 | 2021 |
| 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 | 19 | 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 | 19 | 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 | 19 | 2017 |
| 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 | 17 | 2022 |
| Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia T Mihalic Mosher, DA Zygmunt, DC Koboldt, BJ Kelly, LR Johnson, ... European Journal of Human Genetics 27 (10), 1569-1577, 2019 | 16 | 2019 |
| De novo primary central nervous system pure erythroid leukemia/sarcoma with t (1; 16)(p31; q24) NFIA/CBFA2T3 translocation H Liu, TL Guinipero, KM Schieffer, C Carter, S Colace, JR Leonard, ... haematologica 105 (4), e194, 2020 | 15 | 2020 |
