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Ben Kelly
Ben Kelly
Director of Computational Genomics, The Institute of Genomic Medicine at Nationwide Children's
Email confirmado em nationwidechildrens.org
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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
1812014
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
1472015
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
482023
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
422020
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
392022
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
392018
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
282019
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
262014
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
212021
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
202021
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
192021
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
192020
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
172021
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
162018
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
152017
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
142009
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
132022
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
132021
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
122019
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
112022
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