Ben Kelly
Ben Kelly
Bioinformatics Scientist Manager, The Institute of Genomic Medicine at Nationwide Children's
Verified email at
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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
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
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
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
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
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
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
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
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), 1-14, 2017
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
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), 102867, 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
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
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
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
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
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
Genome sequencing identifies somatic BRAF duplication c. 1794_1796dupTAC; p. Thr599dup in pediatric patient with low-grade ganglioglioma
KE Miller, B Kelly, J Fitch, N Ross, MR Avenarius, E Varga, DC Koboldt, ...
Molecular Case Studies 4 (2), a002618, 2018
Parallel-processing systems and methods for highly scalable analysis of biological sequence data
JR Fitch, BJ Kelly, P White
US Patent App. 15/528,243, 2017
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
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