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131 results

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Page 1
Using ERDS to infer copy-number variants in high-coverage genomes.
Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV, Goldstein DB. Zhu M, et al. Among authors: heinzen el. Am J Hum Genet. 2012 Sep 7;91(3):408-21. doi: 10.1016/j.ajhg.2012.07.004. Epub 2012 Aug 30. Am J Hum Genet. 2012. PMID: 22939633 Free PMC article.
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy.
Miller KE, Rivaldi AC, Shinagawa N, Sran S, Navarro JB, Westfall JJ, Miller AR, Roberts RD, Akkari Y, Supinger R, Hester ME, Marhabaie M, Gade M, Lu J, Rodziyevska O, Bhattacharjee MB, Von Allmen GK, Yang E, Lidov HGW, Harini C, Shah MN, Leonard J, Pindrik J, Shaikhouni A, Goldman JE, Pierson CR, Thomas DL, Boué DR, Ostendorf AP, Mardis ER, Poduri A, Koboldt DC, Heinzen EL, Bedrosian TA. Miller KE, et al. Among authors: heinzen el. Nat Genet. 2023 Nov;55(11):1920-1928. doi: 10.1038/s41588-023-01547-z. Epub 2023 Oct 23. Nat Genet. 2023. PMID: 37872450 Free PMC article.
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT. Khoshkhoo S, et al. Among authors: heinzen el. JAMA Neurol. 2023 Jun 1;80(6):578-587. doi: 10.1001/jamaneurol.2023.0473. JAMA Neurol. 2023. PMID: 37126322 Free PMC article.
A genome-wide investigation of SNPs and CNVs in schizophrenia.
Need AC, Ge D, Weale ME, Maia J, Feng S, Heinzen EL, Shianna KV, Yoon W, Kasperaviciūte D, Gennarelli M, Strittmatter WJ, Bonvicini C, Rossi G, Jayathilake K, Cola PA, McEvoy JP, Keefe RS, Fisher EM, St Jean PL, Giegling I, Hartmann AM, Möller HJ, Ruppert A, Fraser G, Crombie C, Middleton LT, St Clair D, Roses AD, Muglia P, Francks C, Rujescu D, Meltzer HY, Goldstein DB. Need AC, et al. Among authors: heinzen el. PLoS Genet. 2009 Feb;5(2):e1000373. doi: 10.1371/journal.pgen.1000373. Epub 2009 Feb 6. PLoS Genet. 2009. PMID: 19197363 Free PMC article.
Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.
Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB. Ge D, et al. Among authors: heinzen el. Nature. 2009 Sep 17;461(7262):399-401. doi: 10.1038/nature08309. Epub 2009 Aug 16. Nature. 2009. PMID: 19684573
131 results