Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders MA Levy, H McConkey, J Kerkhof, M Barat-Houari, S Bargiacchi, ... Human Genetics and Genomics Advances 3 (1), 2022 | 100 | 2022 |
ATR plays a direct antiapoptotic role at mitochondria, which is regulated by prolyl isomerase Pin1 BA Hilton, Z Li, PR Musich, H Wang, BM Cartwright, M Serrano, XZ Zhou, ... Molecular cell 60 (1), 35-46, 2015 | 94 | 2015 |
(5′ S)-8, 5′-cyclo-2′-deoxyguanosine is a strong block to replication, a potent pol V-dependent mutagenic lesion, and is inefficiently repaired in Escherichia coli VP Jasti, RS Das, BA Hilton, S Weerasooriya, Y Zou, AK Basu Biochemistry 50 (19), 3862-3865, 2011 | 63 | 2011 |
Unusual sequence effects on nucleotide excision repair of arylamine lesions: DNA bending/distortion as a primary recognition factor V Jain, B Hilton, B Lin, S Patnaik, F Liang, E Darian, Y Zou, AD MacKerell, ... Nucleic acids research 41 (2), 869-880, 2013 | 60 | 2013 |
Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes BA Hilton, J Liu, BM Cartwright, Y Liu, M Breitman, Y Wang, R Jones, ... The FASEB Journal 31 (9), 3882, 2017 | 48 | 2017 |
Conformational and thermodynamic properties modulate the nucleotide excision repair of 2-aminofluorene and 2-acetylaminofluorene dG adducts in the NarI sequence V Jain, B Hilton, S Patnaik, Y Zou, MP Chiarelli, BP Cho Nucleic acids research 40 (9), 3939-3951, 2012 | 45 | 2012 |
Replication factor C1, the large subunit of replication factor C, is proteolytically truncated in Hutchinson–Gilford progeria syndrome H Tang, B Hilton, PR Musich, DZ Fang, Y Zou Aging cell 11 (2), 363-365, 2012 | 34 | 2012 |
A new structural insight into XPA–DNA interactions B Hilton, N Shkriabai, PR Musich, M Kvaratskhelia, S Shell, Y Zou Bioscience reports 34 (6), e00162, 2014 | 31 | 2014 |
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders MA Levy, R Relator, H McConkey, E Pranckeviciene, J Kerkhof, ... Human mutation 43 (11), 1609-1628, 2022 | 30 | 2022 |
Structural and Thermodynamic Insight into Escherichia coli UvrABC-Mediated Incision of Cluster Diacetylaminofluorene Adducts on the NarI Sequence V Jain, B Hilton, B Lin, A Jain, AD MacKerell Jr, Y Zou, BP Cho Chemical research in toxicology 26 (8), 1251-1262, 2013 | 17 | 2013 |
Dissociation dynamics of XPC-RAD23B from damaged DNA is a determining factor of NER efficiency B Hilton, S Gopal, L Xu, S Mazumder, PR Musich, BP Cho, Y Zou PLoS One 11 (6), e0157784, 2016 | 15 | 2016 |
Clinical validation and diagnostic utility of optical genome mapping in prenatal diagnostic testing NS Sahajpal, AK Mondal, T Fee, B Hilton, L Layman, AR Hastie, ... The Journal of Molecular Diagnostics 25 (4), 234-246, 2023 | 13 | 2023 |
Effects of antidepressants on DSP4/CPT-induced DNA damage response in neuroblastoma SH-SY5Y cells Y Wang, BA Hilton, K Cui, MY Zhu Neurotoxicity research 28, 154-170, 2015 | 13 | 2015 |
Chronic myelomonocytic leukemia with ETV6-ABL1 rearrangement and SMC1A mutation MH Cessna, P Paulraj, B Hilton, K Sadre-Bazzaz, P Szankasi, A Cluff, ... Cancer Genetics 238, 31-36, 2019 | 10 | 2019 |
ATR prevents Ca2+ overload‐induced necrotic cell death through phosphorylation‐mediated inactivation of PARP1 without DNA damage signaling Z Li, H Wang‐Heaton, BM Cartwright, Y Makinwa, BA Hilton, PR Musich, ... The FASEB Journal 35 (5), 2021 | 8 | 2021 |
Clinical utility of optical genome mapping and 523-gene next generation sequencing panel for comprehensive evaluation of myeloid cancers NS Sahajpal, AK Mondal, H Singh, A Vashisht, S Ananth, D Saul, ... Cancers 15 (12), 3214, 2023 | 5 | 2023 |
The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development SA Sajan, CM Brown, L Davis‐Keppen, K Burns, E Royer, JAC Coleman, ... American Journal of Medical Genetics Part A 191 (12), 2831-2836, 2023 | 2 | 2023 |
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases J Kerkhof, C Rastin, MA Levy, R Relator, H McConkey, L Demain, ... Genetics in Medicine, 101075, 2024 | 1 | 2024 |
Optical Genome Mapping: Integrating Structural Variations for Precise Homologous Recombination Deficiency Score Calculation NS Sahajpal, AK Mondal, A Vashisht, H Singh, AWC Pang, D Saul, ... Genes 14 (9), 1683, 2023 | 1 | 2023 |
Diagnostic Methods for Ring Chromosomes B Hilton, BR DuPont Human Ring Chromosomes: A Practical Guide for Clinicians and Families, 17-30, 2024 | | 2024 |