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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome. Genet Med. 2019 Jun;21(6):1295-1307. doi: 10.1038/s41436-018-0330-z. Epub 2018 Nov 8.
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Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion.Eur J Med Genet. 2020 Mar;63(3):103739. doi: 10.1016/j.ejmg.2019.103739. Epub 2019 Aug 14.
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Glasdegib plus intensive/nonintensive chemotherapy in untreated acute myeloid leukemia: BRIGHT AML 1019 Phase III trials.Future Oncol. 2019 Nov;15(31):3531-3545. doi: 10.2217/fon-2019-0373. Epub 2019 Sep 13.
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A potentially functional variant of ARID1B interacts with physical activity in association with risk of hepatocellular carcinoma.Oncotarget. 2017 May 9;8(19):31057-31064. doi: 10.18632/oncotarget.16074.
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The role of ARID1B, a BAF chromatin remodeling complex subunit, in neural development and behavior.Prog Neuropsychopharmacol Biol Psychiatry. 2019 Mar 8;89:30-38. doi: 10.1016/j.pnpbp.2018.08.021. Epub 2018 Aug 24.
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Expression of ARID1B Is Associated With Poor Outcomes and Predicts the Benefit from Adjuvant Chemotherapy in Bladder Urothelial Carcinoma.J Cancer. 2017 Sep 27;8(17):3490-3497. doi: 10.7150/jca.19109. eCollection 2017.
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Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007.
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Targeting ARID1A-mutant colorectal cancer: depletion of ARID1B increases radiosensitivity and modulates DNA damage response.Sci Rep. 2019 Dec 3;9(1):18207. doi: 10.1038/s41598-019-54757-z.
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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.
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Effects of carvedilol vs bisoprolol on inflammation and oxidative stress in patients with chronic heart failure.J Cardiol. 2020 Feb;75(2):140-147. doi: 10.1016/j.jjcc.2019.07.011. Epub 2019 Aug 21.
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De novo variants in neurodevelopmental disorders with epilepsy.Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
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A system for detecting high impact-low frequency mutations in primary tumors and metastases.Oncogene. 2018 Jan 11;37(2):185-196. doi: 10.1038/onc.2017.322. Epub 2017 Sep 11.
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Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations.Hum Mol Genet. 2009 Jun 15;18(12):2288-96. doi: 10.1093/hmg/ddp135. Epub 2009 Mar 20.
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Similar glycaemic control and less hypoglycaemia during active titration after insulin initiation with glargine 300 units/mL and degludec 100 units/mL: A subanalysis of the BRIGHT study.Diabetes Obes Metab. 2020 Mar;22(3):346-354. doi: 10.1111/dom.13901. Epub 2019 Dec 20.
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Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.Genet Med. 2019 Sep;21(9):2160-2161. doi: 10.1038/s41436-018-0368-y.
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Prognosis related miRNAs, DNA methylation, and epigenetic interactions in lung adenocarcinoma.Neoplasma. 2019 May 23;66(3):487-493. doi: 10.4149/neo_2018_181029N805. Epub 2019 Mar 7.
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Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma.Nat Genet. 2013 Jan;45(1):12-7. doi: 10.1038/ng.2493. Epub 2012 Dec 2.
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De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. J Med Genet. 2017 Feb;54(2):84-86. doi: 10.1136/jmedgenet-2016-103943. Epub 2016 Jul 7.
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Next-generation Sequencing Reveals Recurrent Somatic Mutations in Small Cell Neuroendocrine Carcinoma of the Uterine Cervix.Am J Surg Pathol. 2018 Jun;42(6):750-760. doi: 10.1097/PAS.0000000000001042.
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Insertional Mutagenesis Identifies a STAT3/Arid1b/-catenin Pathway Driving Neurofibroma Initiation.Cell Rep. 2016 Mar 1;14(8):1979-90. doi: 10.1016/j.celrep.2016.01.074. Epub 2016 Feb 18.
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Oxidative Stress Markers and Severity of Obstructive Sleep Apnea.Adv Exp Med Biol. 2019;1222:27-35. doi: 10.1007/5584_2019_433.
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ARID1B, a member of the human SWI/SNF chromatin remodeling complex, exhibits tumour-suppressor activities in pancreatic cancer cell lines.Br J Cancer. 2013 May 28;108(10):2056-62. doi: 10.1038/bjc.2013.200. Epub 2013 May 9.
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Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.Eur J Hum Genet. 2014 Nov;22(11):1327-9. doi: 10.1038/ejhg.2014.25. Epub 2014 Feb 26.
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Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.Leukemia. 2016 Aug;30(8):1672-81. doi: 10.1038/leu.2016.69. Epub 2016 Apr 11.
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Upregulated expression of AT-rich interactive domain-containing protein 1B predicts poor prognosis in patients with triple-negative breast cancer.Oncol Lett. 2019 Mar;17(3):3289-3295. doi: 10.3892/ol.2019.9961. Epub 2019 Jan 23.
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Noninvasive Detection of Tuberculosis by Oral Swab Analysis.J Clin Microbiol. 2019 Feb 27;57(3):e01847-18. doi: 10.1128/JCM.01847-18. Print 2019 Mar.
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Subcranial and orthognathic surgery for obstructive sleep apnea in achondroplasia.J Craniomaxillofac Surg. 2017 Dec;45(12):2028-2034. doi: 10.1016/j.jcms.2017.09.028. Epub 2017 Oct 5.
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Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.Psychiatr Genet. 2019 Dec;29(6):237-242. doi: 10.1097/YPG.0000000000000225.
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Concurrent ARID1A and ARID1B inactivation in endometrial and ovarian dedifferentiated carcinomas.Mod Pathol. 2016 Dec;29(12):1586-1593. doi: 10.1038/modpathol.2016.156. Epub 2016 Aug 26.
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Undifferentiated Endometrial Carcinomas Show Frequent Loss of Core Switch/Sucrose Nonfermentable Complex Proteins.Am J Surg Pathol. 2018 Jan;42(1):76-83. doi: 10.1097/PAS.0000000000000941.
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Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency. Orphanet J Rare Dis. 2014 Mar 27;9:43. doi: 10.1186/1750-1172-9-43.
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ARID1B alterations identify aggressive tumors in neuroblastoma.Oncotarget. 2017 Jul 11;8(28):45943-45950. doi: 10.18632/oncotarget.17500.
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Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation.Am J Med Genet A. 2016 Dec;170(12):3249-3252. doi: 10.1002/ajmg.a.37861. Epub 2016 Aug 11.
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Ischemia induces early expression of a new transcription factor (6A3-5) in kidney vascular smooth muscle cells: studies in rat and human renal pathology.Am J Pathol. 2003 Dec;163(6):2485-94. doi: 10.1016/S0002-9440(10)63603-6.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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Activation of AIFM2 enhances apoptosis of human lung cancer cells undergoing toxicological stress. Toxicol Lett. 2016 Sep 6;258:227-236.
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Essential role of cell cycle regulatory genes p21 and p27 expression in inhibition of breast cancer cells by arsenic trioxide. Med Oncol. 2011 Dec;28(4):1225-54.
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Transcriptional signature of human macrophages exposed to the environmental contaminant benzo(a)pyrene. Toxicol Sci. 2010 Apr;114(2):247-59.
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Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
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Environmental pollutant induced cellular injury is reflected in exosomes from placental explants. Placenta. 2020 Jan 1;89:42-49. doi: 10.1016/j.placenta.2019.10.008. Epub 2019 Oct 17.
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A trichostatin A expression signature identified by TempO-Seq targeted whole transcriptome profiling. PLoS One. 2017 May 25;12(5):e0178302. doi: 10.1371/journal.pone.0178302. eCollection 2017.
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Characterization of formaldehyde's genotoxic mode of action by gene expression analysis in TK6 cells. Arch Toxicol. 2013 Nov;87(11):1999-2012.
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