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Year Number of Results
2017 1
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2021 3
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Page 1
A cross-disorder dosage sensitivity map of the human genome.
Collins RL, Glessner JT, Porcu E, Lepamets M, Brandon R, Lauricella C, Han L, Morley T, Niestroj LM, Ulirsch J, Everett S, Howrigan DP, Boone PM, Fu J, Karczewski KJ, Kellaris G, Lowther C, Lucente D, Mohajeri K, Nõukas M, Nuttle X, Samocha KE, Trinh M, Ullah F, Võsa U; Epi25 Consortium; Estonian Biobank Research Team; Hurles ME, Aradhya S, Davis EE, Finucane H, Gusella JF, Janze A, Katsanis N, Matyakhina L, Neale BM, Sanders D, Warren S, Hodge JC, Lal D, Ruderfer DM, Meck J, Mägi R, Esko T, Reymond A, Kutalik Z, Hakonarson H, Sunyaev S, Brand H, Talkowski ME. Collins RL, et al. Cell. 2022 Aug 4;185(16):3041-3055.e25. doi: 10.1016/j.cell.2022.06.036. Epub 2022 Aug 1. Cell. 2022. PMID: 35917817 Free PMC article.
X-Linked Dystonia-Parkinsonism: recent advances.
Bragg DC, Sharma N, Ozelius LJ. Bragg DC, et al. Curr Opin Neurol. 2019 Aug;32(4):604-609. doi: 10.1097/WCO.0000000000000708. Curr Opin Neurol. 2019. PMID: 31116117 Free PMC article. Review.
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models.
Tai DJC, Razaz P, Erdin S, Gao D, Wang J, Nuttle X, de Esch CE, Collins RL, Currall BB, O'Keefe K, Burt ND, Yadav R, Wang L, Mohajeri K, Aneichyk T, Ragavendran A, Stortchevoi A, Morini E, Ma W, Lucente D, Hastie A, Kelleher RJ, Perlis RH, Talkowski ME, Gusella JF. Tai DJC, et al. Am J Hum Genet. 2022 Oct 6;109(10):1789-1813. doi: 10.1016/j.ajhg.2022.08.012. Epub 2022 Sep 23. Am J Hum Genet. 2022. PMID: 36152629 Free PMC article.
TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X-linked Dystonia-Parkinsonism.
Al Ali J, Vaine CA, Shah S, Campion L, Hakoum A, Supnet ML, Acuña P, Aldykiewicz G, Multhaupt-Buell T, Ganza NGM, Lagarde JBB, De Guzman JK, Go C, Currall B, Trombetta B, Webb PK, Talkowski M, Arnold SE, Cheah PS, Ito N, Sharma N, Bragg DC, Ozelius L, Breakefield XO. Al Ali J, et al. Mov Disord. 2021 Jan;36(1):206-215. doi: 10.1002/mds.28305. Epub 2020 Sep 25. Mov Disord. 2021. PMID: 32975318 Free PMC article.
Targeting Myeloperoxidase to Reduce Neuroinflammation in X-Linked Dystonia Parkinsonism.
Petrozziello T, Motlagh NJ, Monsanto RZB, Lei D, Murcar MG, Penney EB, Bragg DC, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz E, Ang MC, Diesta CCE, Zhang C, Tanzi RE, Qureshi IA, Chen JW, Sadri-Vakili G. Petrozziello T, et al. CNS Neurosci Ther. 2024 Nov;30(11):e70109. doi: 10.1111/cns.70109. CNS Neurosci Ther. 2024. PMID: 39500625 Free PMC article.
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Mohajeri K, Yadav R, D'haene E, Boone PM, Erdin S, Gao D, Moyses-Oliveira M, Bhavsar R, Currall BB, O'Keefe K, Burt ND, Lowther C, Lucente D, Salani M, Larson M, Redin C, Dudchenko O, Aiden EL, Menten B, Tai DJC, Gusella JF, Vergult S, Talkowski ME. Mohajeri K, et al. Am J Hum Genet. 2022 Nov 3;109(11):2049-2067. doi: 10.1016/j.ajhg.2022.09.015. Epub 2022 Oct 24. Am J Hum Genet. 2022. PMID: 36283406 Free PMC article.
Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons.
Parnell E, Culotta L, Forrest MP, Jalloul HA, Eckman BL, Loizzo DD, Horan KKE, Dos Santos M, Piguel NH, Tai DJC, Zhang H, Gertler TS, Simkin D, Sanders AR, Talkowski ME, Gejman PV, Kiskinis E, Duan J, Penzes P. Parnell E, et al. Biol Psychiatry. 2023 Jul 15;94(2):153-163. doi: 10.1016/j.biopsych.2022.11.005. Epub 2022 Nov 9. Biol Psychiatry. 2023. PMID: 36581494 Free PMC article.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.
MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.
Maza AM, Hincher M, Correia K, Gillis T, Nishiyama A, Penney EB, Domingo A, Yadav R, Murcar MG, Mercado PDV, Han JS, Norenberg EP, Fernandez-Cerado C, Legarda GP, Sy M, Muñoz E, Ang MC, Diesta CCE, Go C, Sharma N, Bragg DC, Talkowski ME, MacDonald ME, Lee JM, Ozelius LJ, Wheeler VC. Maza AM, et al. bioRxiv [Preprint]. 2025 May 16:2025.05.14.653432. doi: 10.1101/2025.05.14.653432. bioRxiv. 2025. PMID: 40463055 Free PMC article. Preprint.
14 results