My Bibliography

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Zhang W, Young JI, Gomez L, Schmidt MA, Lukacsovich D, Varma A, Chen XS, Kunkle B, Martin ER, Wang L. Critical evaluation of the reliability of DNA methylation probes on the Illumina MethylationEPIC v1.0 BeadChip microarrays. Epigenetics. 2024 Dec;19(1):2333660. doi: 10.1080/15592294.2024.2333660. Epub 2024 Apr 2. PubMed PMID: 38564759; PubMed Central PMCID: PMC10989698.

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Rebelo AP, Abad C, Dohrn MF, Li JJ, Tieu EK, Medina J, Yanick C, Huang J, Zotter B, Young JI, Saporta M, Scherer SS, Walz K, Zuchner S. SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. Brain. 2024 Sep 3;147(9):3131-3143. doi: 10.1093/brain/awae079. PubMed PMID: 38538210.

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Lukacsovich D, O'Shea D, Huang H, Zhang W, Young J, Chen XS, Dietrich ST, Kunkle B, Martin E, Wang L. MIAMI-AD (Methylation in Aging and Methylation in AD): an integrative knowledgebase that facilitates explorations of DNA methylation across sex, aging, and Alzheimer's disease. Database (Oxford). 2024 Jul 19;2024. doi: 10.1093/database/baae061. PubMed PMID: 39028752; PubMed Central PMCID: PMC11259044.

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Abad C, Robayo MC, Muñiz-Moreno MDM, Bernardi MT, Otero MG, Kosanovic C, Griswold AJ, Pierson TM, Walz K, Young JI. Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning. Transl Psychiatry. 2024 Jan 18;14(1):33. doi: 10.1038/s41398-023-02678-x. PubMed PMID: 38238293; PubMed Central PMCID: PMC10796954.

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Rebelo AP, Abad C, Dohrn MF, Li JJ, Tieu E, Medina J, Yanick C, Huang J, Zotter B, Young JI, Saporta M, Scherer SS, Walz K, Zuchner S. Sord deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights. bioRxiv. 2023 Dec 7;. doi: 10.1101/2023.12.05.570001. PubMed PMID: 38106042; PubMed Central PMCID: PMC10723320.

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Lukacsovich D, O'Shea D, Huang H, Zhang W, Young JI, Steven Chen X, Dietrich ST, Kunkle B, Martin ER, Wang L. MIAMI-AD (Methylation in Aging and Methylation in AD): an integrative knowledgebase that facilitates explorations of DNA methylation across sex, aging, and Alzheimer's disease. medRxiv. 2023 Dec 5;. doi: 10.1101/2023.12.04.23299412. PubMed PMID: 38105943; PubMed Central PMCID: PMC10723513.

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Celis K, Moreno MDMM, Rajabli F, Whitehead P, Hamilton-Nelson K, Dykxhoorn DM, Nuytemans K, Wang L, Flanagan M, Weintraub S, Geula C, Gearing M, Dalgard CL, Jin F, Bennett DA, Schuck T, Pericak-Vance MA, Griswold AJ, Young JI, Vance JM. Ancestry-related differences in chromatin accessibility and gene expression of APOE ε4 are associated with Alzheimer's disease risk. Alzheimers Dement. 2023 Sep;19(9):3902-3915. doi: 10.1002/alz.13075. Epub 2023 Apr 10. PubMed PMID: 37037656; PubMed Central PMCID: PMC10529851.

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Zhang W, Young JI, Gomez L, Schmidt MA, Lukacsovich D, Varma A, Chen XS, Martin ER, Wang L. Distinct CSF biomarker-associated DNA methylation in Alzheimer's disease and cognitively normal subjects. Alzheimers Res Ther. 2023 Apr 10;15(1):78. doi: 10.1186/s13195-023-01216-7. PubMed PMID: 37038196; PubMed Central PMCID: PMC10088180.

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Ferrier FJ, Saul I, Khoury N, Ruiz AJ, Lao EJP, Escobar I, Dave KR, Young JI, Perez-Pinzon MA. Post cardiac arrest physical exercise mitigates cell death in the septal and thalamic nuclei and ameliorates contextual fear conditioning deficits in rats. J Cereb Blood Flow Metab. 2023 Mar;43(3):446-459. doi: 10.1177/0271678X221137539. Epub 2022 Nov 11. PubMed PMID: 36369732; PubMed Central PMCID: PMC9941858.

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Zhang W, Young JI, Gomez L, Schmidt MA, Lukacsovich D, Varma A, Chen XS, Martin ER, Wang L. Distinct CSF biomarker-associated DNA methylation in Alzheimer's disease and cognitively normal subjects. Res Sq. 2023 Feb 21;. doi: 10.21203/rs.3.rs-2391364/v1. PubMed PMID: 36865230; PubMed Central PMCID: PMC9980279.

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Nuytemans K, Lipkin Vasquez M, Wang L, Van Booven D, Griswold AJ, Rajabli F, Celis K, Oron O, Hofmann N, Rolati S, Garcia-Serje C, Zhang S, Jin F, Argenziano M, Grant SFA, Chesi A, Brown CD, Young JI, Dykxhoorn DM, Pericak-Vance MA, Vance JM. Identifying differential regulatory control of APOE ɛ4 on African versus European haplotypes as potential therapeutic targets. Alzheimers Dement. 2022 Oct;18(10):1930-1942. doi: 10.1002/alz.12534. Epub 2022 Jan 3. PubMed PMID: 34978147; PubMed Central PMCID: PMC9250552.

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C Silva T, Zhang W, Young JI, Gomez L, Schmidt MA, Varma A, Chen XS, Martin ER, Wang L. Distinct sex-specific DNA methylation differences in Alzheimer's disease. Alzheimers Res Ther. 2022 Sep 15;14(1):133. doi: 10.1186/s13195-022-01070-z. PubMed PMID: 36109771; PubMed Central PMCID: PMC9479371.

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C Silva T, Young JI, Zhang L, Gomez L, Schmidt MA, Varma A, Chen XS, Martin ER, Wang L. Cross-tissue analysis of blood and brain epigenome-wide association studies in Alzheimer's disease. Nat Commun. 2022 Aug 18;13(1):4852. doi: 10.1038/s41467-022-32475-x. PubMed PMID: 35982059; PubMed Central PMCID: PMC9388493.

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Rajabli F, Beecham GW, Hendrie HC, Baiyewu O, Ogunniyi A, Gao S, Kushch NA, Lipkin-Vasquez M, Hamilton-Nelson KL, Young JI, Dykxhoorn DM, Nuytemans K, Kunkle BW, Wang L, Jin F, Liu X, Feliciano-Astacio BE, Schellenberg GD, Dalgard CL, Griswold AJ, Byrd GS, Reitz C, Cuccaro ML, Haines JL, Pericak-Vance MA, Vance JM. A locus at 19q13.31 significantly reduces the ApoE ε4 risk for Alzheimer's Disease in African Ancestry. PLoS Genet. 2022 Jul;18(7):e1009977. doi: 10.1371/journal.pgen.1009977. eCollection 2022 Jul. PubMed PMID: 35788729; PubMed Central PMCID: PMC9286282.

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Silva TC, Young JI, Martin ER, Chen XS, Wang L. MethReg: estimating the regulatory potential of DNA methylation in gene transcription. Nucleic Acids Res. 2022 May 20;50(9):e51. doi: 10.1093/nar/gkac030. PubMed PMID: 35100398; PubMed Central PMCID: PMC9122535.

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Griswold AJ, Celis K, Bussies PL, Rajabli F, Whitehead PL, Hamilton-Nelson KL, Beecham GW, Dykxhoorn DM, Nuytemans K, Wang L, Gardner OK, Dorfsman DA, Bigio EH, Mesulam MM, Weintraub S, Geula C, Gearing M, McGrath-Martinez E, Dalgard CL, Scott WK, Haines JL, Pericak-Vance MA, Young JI, Vance JM. Increased APOE ε4 expression is associated with the difference in Alzheimer's disease risk from diverse ancestral backgrounds. Alzheimers Dement. 2021 Jul;17(7):1179-1188. doi: 10.1002/alz.12287. Epub 2021 Feb 1. PubMed PMID: 33522086; PubMed Central PMCID: PMC8843031.

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Chen X, Abad C, Chen ZY, Young JI, Gurumurthy CB, Walz K, Liu XZ. Generation and characterization of a P2rx2 V60L mouse model for DFNA41. Hum Mol Genet. 2021 May 31;30(11):985-995. doi: 10.1093/hmg/ddab077. PubMed PMID: 33791800; PubMed Central PMCID: PMC8170843.

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Young JI, Slifer S, Hecht JT, Blanton SH. DNA Methylation Variation Is Identified in Monozygotic Twins Discordant for Non-syndromic Cleft Lip and Palate. Front Cell Dev Biol. 2021;9:656865. doi: 10.3389/fcell.2021.656865. eCollection 2021. PubMed PMID: 34055787; PubMed Central PMCID: PMC8149607.

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Zhang L, Young JI, Gomez L, Silva TC, Schmidt MA, Cai J, Chen X, Martin ER, Wang L. Sex-specific DNA methylation differences in Alzheimer's disease pathology. Acta Neuropathol Commun. 2021 Apr 26;9(1):77. doi: 10.1186/s40478-021-01177-8. PubMed PMID: 33902726; PubMed Central PMCID: PMC8074512.

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Mittal R, Bencie N, Liu G, Eshraghi N, Nisenbaum E, Blanton SH, Yan D, Mittal J, Dinh CT, Young JI, Gong F, Liu XZ. Recent advancements in understanding the role of epigenetics in the auditory system. Gene. 2020 Nov 30;761:144996. doi: 10.1016/j.gene.2020.144996. Epub 2020 Jul 29. Review. PubMed PMID: 32738421; PubMed Central PMCID: PMC8168289.

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Zhang L, Silva TC, Young JI, Gomez L, Schmidt MA, Hamilton-Nelson KL, Kunkle BW, Chen X, Martin ER, Wang L. Epigenome-wide meta-analysis of DNA methylation differences in prefrontal cortex implicates the immune processes in Alzheimer's disease. Nat Commun. 2020 Nov 30;11(1):6114. doi: 10.1038/s41467-020-19791-w. PubMed PMID: 33257653; PubMed Central PMCID: PMC7704686.

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Kannan-Sundhari A, Abad C, Maloof ME, Ayad NG, Young JI, Liu XZ, Walz K. Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival. Front Cell Dev Biol. 2020;8:576654. doi: 10.3389/fcell.2020.576654. eCollection 2020. PubMed PMID: 33015071; PubMed Central PMCID: PMC7509448.

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Seabra CM, Aneichyk T, Erdin S, Tai DJC, De Esch CEF, Razaz P, An Y, Manavalan P, Ragavendran A, Stortchevoi A, Abad C, Young JI, Maciel P, Talkowski ME, Gusella JF. Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons. Mol Autism. 2020 Jun 5;11(1):45. doi: 10.1186/s13229-020-00354-1. PubMed PMID: 32503625; PubMed Central PMCID: PMC7275313.

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Dinh CT, Nisenbaum E, Chyou D, Misztal C, Yan D, Mittal R, Young J, Tekin M, Telischi F, Fernandez-Valle C, Liu XZ. Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2. Otol Neurotol. 2020 Jun;41(5):e529-e537. doi: 10.1097/MAO.0000000000002613. Review. PubMed PMID: 32150022; PubMed Central PMCID: PMC7547625.

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Shieh C, Jones N, Vanle B, Au M, Huang AY, Silva APG, Lee H, Douine ED, Otero MG, Choi A, Grand K, Taff IP, Delgado MR, Hajianpour MJ, Seeley A, Rohena L, Vernon H, Gripp KW, Vergano SA, Mahida S, Naidu S, Sousa AB, Wain KE, Challman TD, Beek G, Basel D, Ranells J, Smith R, Yusupov R, Freckmann ML, Ohden L, Davis-Keppen L, Chitayat D, Dowling JJ, Finkel R, Dauber A, Spillmann R, Pena LDM, Metcalfe K, Splitt M, Lachlan K, McKee SA, Hurst J, Fitzpatrick DR, Morton JEV, Cox H, Venkateswaran S, Young JI, Marsh ED, Nelson SF, Martinez JA, Graham JM Jr, Kini U, Mackay JP, Pierson TM. GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder. Genet Med. 2020 May;22(5):878-888. doi: 10.1038/s41436-019-0747-z. Epub 2020 Jan 17. PubMed PMID: 31949314; PubMed Central PMCID: PMC7920571.

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Marti M, Perez Millan MI, Young JI, Walz K. Intellectual disability, the long way from genes to biological mechanisms. Journal of Translational Genetics and Genomics. 2020 April; (4):104-113. doi: 10.20517/jtgg.2020.10.

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Bussies PL, Rajabli F, Griswold A, Dorfsman DA, Whitehead P, Adams LD, Mena PR, Cuccaro M, Haines JL, Byrd GS, Beecham GW, Pericak-Vance MA, Young JI, Vance JM. Use of local genetic ancestry to assess TOMM40-523' and risk for Alzheimer disease. Neurol Genet. 2020 Apr;6(2):e404. doi: 10.1212/NXG.0000000000000404. eCollection 2020 Apr. PubMed PMID: 32337333; PubMed Central PMCID: PMC7164968.

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Pierson TM, Otero MG, Grand K, Choi A, Graham JM Jr, Young JI, Mackay JP. The NuRD complex and macrocephaly associated neurodevelopmental disorders. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):548-556. doi: 10.1002/ajmg.c.31752. Epub 2019 Nov 18. Review. PubMed PMID: 31737996.

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Gomez L, Odom GJ, Young JI, Martin ER, Liu L, Chen X, Griswold AJ, Gao Z, Zhang L, Wang L. coMethDMR: accurate identification of co-methylated and differentially methylated regions in epigenome-wide association studies with continuous phenotypes. Nucleic Acids Res. 2019 Sep 26;47(17):e98. doi: 10.1093/nar/gkz590. PubMed PMID: 31291459; PubMed Central PMCID: PMC6753499.

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Young JI, Sivasankaran SK, Wang L, Ali A, Mehta A, Davis DA, Dykxhoorn DM, Petito CK, Beecham GW, Martin ER, Mash DC, Pericak-Vance M, Scott WK, Montine TJ, Vance JM. Genome-wide brain DNA methylation analysis suggests epigenetic reprogramming in Parkinson disease. Neurol Genet. 2019 Aug;5(4):e342. doi: 10.1212/NXG.0000000000000342. eCollection 2019 Aug. PubMed PMID: 31403079; PubMed Central PMCID: PMC6659138.

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Khoury N, Xu J, Stegelmann SD, Jackson CW, Koronowski KB, Dave KR, Young JI, Perez-Pinzon MA. Resveratrol Preconditioning Induces Genomic and Metabolic Adaptations within the Long-Term Window of Cerebral Ischemic Tolerance Leading to Bioenergetic Efficiency. Mol Neurobiol. 2019 Jun;56(6):4549-4565. doi: 10.1007/s12035-018-1380-6. Epub 2018 Oct 20. PubMed PMID: 30343466; PubMed Central PMCID: PMC6475499.

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Fuse MA, Dinh CT, Vitte J, Kirkpatrick J, Mindos T, Plati SK, Young JI, Huang J, Carlstedt A, Franco MC, Brnjos K, Nagamoto J, Petrilli AM, Copik AJ, Soulakova JN, Bracho O, Yan D, Mittal R, Shen R, Telischi FF, Morrison H, Giovannini M, Liu XZ, Chang LS, Fernandez-Valle C. Preclinical assessment of MEK1/2 inhibitors for neurofibromatosis type 2-associated schwannomas reveals differences in efficacy and drug resistance development. Neuro Oncol. 2019 Mar 18;21(4):486-497. doi: 10.1093/neuonc/noz002. PubMed PMID: 30615146; PubMed Central PMCID: PMC6422635.

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Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research (Translational and Applied Genomics Series) 1 ed. San Diego: Elsevier Inc./Academic Press; 2019. 1-226p.

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Pardo PS, Walz K. Tiny Models to Answer Big Questions: The Worm and the Yeast as Tools in Human Genetics Research.. In: Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research 1 ed. San Diego: Elsevier Inc./Academic Press; 2019. p.49-68. 49-68p.

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Canales CP, Walz K. The Mouse, a Model Organism for Biomedical Research.. In: Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research San Diego: Elsevier Inc./Academic Press; 2019. p.119-140.

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Sundhari AK, Reddy SK, Walz K, Gurumurthy CB, Quadros RM. CRISPR-Cas Technology as a Tool to Create Animal Models for Biomedical Research.. In: Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research San Diego: Elsevier Inc./Academic Press; 2019. p.141-154.

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Walz K, Young JI. Models to Understand Human Genomics, Final Considerations.. In: Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research San Diego: Elsevier Inc./Academic Press; 2019. p.191-198.

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Carmona-Mora P, Young JI. Integrative Modeling and Novel Technologies in Human Genomics.. In: Walz K, Young JI, editors. Cellular and Animal Models in Human Genomics Research San Diego: Elsevier Inc./Academic Press; 2019. p.1-18.

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Khoury N, Koronowski KB, Young JI, Perez-Pinzon MA. The NAD(+)-Dependent Family of Sirtuins in Cerebral Ischemia and Preconditioning. Antioxid Redox Signal. 2018 Mar 10;28(8):691-710. doi: 10.1089/ars.2017.7258. Epub 2017 Aug 7. Review. PubMed PMID: 28683567; PubMed Central PMCID: PMC5824497.

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Koronowski KB, Khoury N, Saul I, Loris ZB, Cohan CH, Stradecki-Cohan HM, Dave KR, Young JI, Perez-Pinzon MA. Neuronal SIRT1 (Silent Information Regulator 2 Homologue 1) Regulates Glycolysis and Mediates Resveratrol-Induced Ischemic Tolerance. Stroke. 2017 Nov;48(11):3117-3125. doi: 10.1161/STROKEAHA.117.018562. Epub 2017 Oct 10. PubMed PMID: 29018134; PubMed Central PMCID: PMC5654689.

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Rao NR, Abad C, Perez IC, Srivastava AK, Young JI, Walz K. Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice. Biology (Basel). 2017 Apr 27;6(2). doi: 10.3390/biology6020025. PubMed PMID: 28448442; PubMed Central PMCID: PMC5485472.

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Belle K, Shabazz FS, Nuytemans K, Davis DA, Ali A, Young JL, Scott WK, Mash DC, Vance JM, Dykxhoorn DM. Generation of disease-specific autopsy-confirmed iPSCs lines from postmortem isolated Peripheral Blood Mononuclear Cells. Neurosci Lett. 2017 Jan 10;637:201-206. doi: 10.1016/j.neulet.2016.10.065. Epub 2016 Nov 5. PubMed PMID: 27826014; NIHMSID:NIHMS831986.

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Acuña M, González-Hódar L, Amigo L, Castro J, Morales MG, Cancino GI, Groen AK, Young J, Miquel JF, Zanlungo S. Transgenic overexpression of Niemann-Pick C2 protein promotes cholesterol gallstone formation in mice. J Hepatol. 2016 Feb;64(2):361-369. doi: 10.1016/j.jhep.2015.10.002. Epub 2015 Dec 10. PubMed PMID: 26453970.

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Koronowski KB, Dave KR, Saul I, Camarena V, Thompson JW, Neumann JT, Young JI, Perez-Pinzon MA. Resveratrol Preconditioning Induces a Novel Extended Window of Ischemic Tolerance in the Mouse Brain. Stroke. 2015 Aug;46(8):2293-8. doi: 10.1161/STROKEAHA.115.009876. Epub 2015 Jul 9. PubMed PMID: 26159789; PubMed Central PMCID: PMC4519394.

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Young JI, Züchner S, Wang G. Regulation of the Epigenome by Vitamin C. Annu Rev Nutr. 2015;35:545-64. doi: 10.1146/annurev-nutr-071714-034228. Epub 2015 May 6. Review. PubMed PMID: 25974700; PubMed Central PMCID: PMC4506708.

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Itzhak Y, Ergui I, Young JI. Long-term parental methamphetamine exposure of mice influences behavior and hippocampal DNA methylation of the offspring. Mol Psychiatry. 2015 Feb;20(2):232-9. doi: 10.1038/mp.2014.7. Epub 2014 Feb 18. PubMed PMID: 24535458.

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Walz K, Cohen D, Neilsen PM, Foster J 2nd, Brancati F, Demir K, Fisher R, Moffat M, Verbeek NE, Bjørgo K, Lo Castro A, Curatolo P, Novelli G, Abad C, Lei C, Zhang L, Diaz-Horta O, Young JI, Callen DF, Tekin M. Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome. Hum Genet. 2015 Feb;134(2):181-90. doi: 10.1007/s00439-014-1509-2. Epub 2014 Nov 21. PubMed PMID: 25413698.

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Canales CP, Krall P, Kairath P, Perez IC, Fragoso MA, Carmona-Mora P, Ruiz P, Reiser J, Young JI, Walz K. Characterization of a Trpc6 Transgenic Mouse Associated with Early Onset FSGS. Br J Med Med Res. 2015;5(10):1198-2012. doi: 10.9734/bjmmr/2015/12493. Epub 2014 Oct 30. PubMed PMID: 34012910; PubMed Central PMCID: PMC8130885.

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Walz K, Young JI. The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome. Rare Dis. 2014;2(1):e967151. doi: 10.4161/2167549X.2014.967151. eCollection 2014. PubMed PMID: 26942102; PubMed Central PMCID: PMC4755234.

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Camarena V, Cao L, Abad C, Abrams A, Toledo Y, Araki K, Araki M, Walz K, Young JI. Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome. EMBO Mol Med. 2014 Aug;6(8):1003-15. doi: 10.15252/emmm.201404044. PubMed PMID: 25001218; PubMed Central PMCID: PMC4154129.