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Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.
Aneichyk T, Hendriks WT, Yadav R, Shin D, Gao D, Vaine CA, Collins RL, Domingo A, Currall B, Stortchevoi A, Multhaupt-Buell T, Penney EB, Cruz L, Dhakal J, Brand H, Hanscom C, Antolik C, Dy M, Ragavendran A, Underwood J, Cantsilieris S, Munson KM, Eichler EE, Acuña P, Go C, Jamora RDG, Rosales RL, Church DM, Williams SR, Garcia S, Klein C, Müller U, Wilhelmsen KC, Timmers HTM, Sapir Y, Wainger BJ, Henderson D, Ito N, Weisenfeld N, Jaffe D, Sharma N, Breakefield XO, Ozelius LJ, Bragg DC, Talkowski ME. Aneichyk T, et al. Among authors: yadav r. Cell. 2018 Feb 22;172(5):897-909.e21. doi: 10.1016/j.cell.2018.02.011. Cell. 2018. PMID: 29474918 Free PMC article.
Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1.
Bragg DC, Mangkalaphiban K, Vaine CA, Kulkarni NJ, Shin D, Yadav R, Dhakal J, Ton ML, Cheng A, Russo CT, Ang M, Acuña P, Go C, Franceour TN, Multhaupt-Buell T, Ito N, Müller U, Hendriks WT, Breakefield XO, Sharma N, Ozelius LJ. Bragg DC, et al. Among authors: yadav r. Proc Natl Acad Sci U S A. 2017 Dec 19;114(51):E11020-E11028. doi: 10.1073/pnas.1712526114. Epub 2017 Dec 11. Proc Natl Acad Sci U S A. 2017. PMID: 29229810 Free PMC article.
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Werling DM, Brand H, An JY, Stone MR, Zhu L, Glessner JT, Collins RL, Dong S, Layer RM, Markenscoff-Papadimitriou E, Farrell A, Schwartz GB, Wang HZ, Currall BB, Zhao X, Dea J, Duhn C, Erdman CA, Gilson MC, Yadav R, Handsaker RE, Kashin S, Klei L, Mandell JD, Nowakowski TJ, Liu Y, Pochareddy S, Smith L, Walker MF, Waterman MJ, He X, Kriegstein AR, Rubenstein JL, Sestan N, McCarroll SA, Neale BM, Coon H, Willsey AJ, Buxbaum JD, Daly MJ, State MW, Quinlan AR, Marth GT, Roeder K, Devlin B, Talkowski ME, Sanders SJ. Werling DM, et al. Among authors: yadav r. Nat Genet. 2018 Apr 26;50(5):727-736. doi: 10.1038/s41588-018-0107-y. Nat Genet. 2018. PMID: 29700473 Free PMC article.
Ectopic expression of RAD52 and dn53BP1 improves homology-directed repair during CRISPR-Cas9 genome editing.
Paulsen BS, Mandal PK, Frock RL, Boyraz B, Yadav R, Upadhyayula S, Gutierrez-Martinez P, Ebina W, Fasth A, Kirchhausen T, Talkowski ME, Agarwal S, Alt FW, Rossi DJ. Paulsen BS, et al. Among authors: yadav r. Nat Biomed Eng. 2017 Nov;1(11):878-888. doi: 10.1038/s41551-017-0145-2. Epub 2017 Oct 9. Nat Biomed Eng. 2017. PMID: 31015609 Free PMC article.
Isolated dystonia: clinical and genetic updates.
Domingo A, Yadav R, Ozelius LJ. Domingo A, et al. Among authors: yadav r. J Neural Transm (Vienna). 2021 Apr;128(4):405-416. doi: 10.1007/s00702-020-02268-x. Epub 2020 Nov 27. J Neural Transm (Vienna). 2021. PMID: 33247415 Review.
Tissue-specific and repeat length-dependent somatic instability of the X-linked dystonia parkinsonism-associated CCCTCT repeat.
Campion LN, Mejia Maza A, Yadav R, Penney EB, Murcar MG, Correia K, Gillis T, Fernandez-Cerado C, Velasco-Andrada MS, Legarda GP, Ganza-Bautista NG, Lagarde JBB, Acuña PJ, Multhaupt-Buell T, Aldykiewicz G, Supnet ML, De Guzman JK, Go C, Sharma N, Munoz EL, Ang MC, Diesta CCE, Bragg DC, Ozelius LJ, Wheeler VC. Campion LN, et al. Among authors: yadav r. Acta Neuropathol Commun. 2022 Apr 8;10(1):49. doi: 10.1186/s40478-022-01349-0. Acta Neuropathol Commun. 2022. PMID: 35395816 Free PMC article.
3,547 results