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Page 1
Complete Genomic Characterization of Global Pathogens, Respiratory Syncytial Virus (RSV), and Human Norovirus (HuNoV) Using Probe-based Capture Enrichment.
Bhamidipati SV, Surathu A, Chao H, Agustinho DP, Xiang Q, Kottapalli K, Santhanam A, Momin Z, Walker K, Menon VK, Weissenberger G, Emerick N, Mahjabeen F, Meng Q, Hu J, Sucgang R, Henke D, Sedlazeck FJ, Khan Z, Metcalf GA, Avadhanula V, Piedra PA, Ramani S, Atmar RL, Estes MK, Petrosino JF, Gibbs RA, Muzny DM, Cregeen SJ, Doddapaneni H. Bhamidipati SV, et al. Among authors: gibbs ra. bioRxiv [Preprint]. 2024 Sep 16:2024.09.16.613242. doi: 10.1101/2024.09.16.613242. bioRxiv. 2024. PMID: 39345650 Free PMC article. Preprint.
Frequency of pharmacogenomic variation and medication exposures among All of Us Participants.
Haddad A, Radhakrishnan A, McGee S, Smith JD, Karnes JH, Venner E, Wheeler MM, Patterson K, Walker K, Kalra D, Kalla SE, Wang Q, Gibbs RA, Jarvik GP, Sanchez J, Musick A, Ramirez AH, Denny JC, Empey PE. Haddad A, et al. Among authors: gibbs ra. medRxiv [Preprint]. 2024 Jun 13:2024.06.12.24304664. doi: 10.1101/2024.06.12.24304664. medRxiv. 2024. PMID: 38946996 Free PMC article. Preprint.
Comprehensive Molecular Characterization of Papillary Renal-Cell Carcinoma.
Cancer Genome Atlas Research Network; Linehan WM, Spellman PT, Ricketts CJ, Creighton CJ, Fei SS, Davis C, Wheeler DA, Murray BA, Schmidt L, Vocke CD, Peto M, Al Mamun AA, Shinbrot E, Sethi A, Brooks S, Rathmell WK, Brooks AN, Hoadley KA, Robertson AG, Brooks D, Bowlby R, Sadeghi S, Shen H, Weisenberger DJ, Bootwalla M, Baylin SB, Laird PW, Cherniack AD, Saksena G, Haake S, Li J, Liang H, Lu Y, Mills GB, Akbani R, Leiserson MD, Raphael BJ, Anur P, Bottaro D, Albiges L, Barnabas N, Choueiri TK, Czerniak B, Godwin AK, Hakimi AA, Ho TH, Hsieh J, Ittmann M, Kim WY, Krishnan B, Merino MJ, Mills Shaw KR, Reuter VE, Reznik E, Shelley CS, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Tickoo S, Burnett K, Crain D, Gardner J, Lau K, Mallery D, Morris S, Paulauskis JD, Penny RJ, Shelton C, Shelton WT, Sherman M, Thompson E, Yena P, Avedon MT, Bowen J, Gastier-Foster JM, Gerken M, Leraas KM, Lichtenberg TM, Ramirez NC, Santos T, Wise L, Zmuda E, Demchok JA, Felau I, Hutter CM, Sheth M, Sofia HJ, Tarnuzzer R, Wang Z, Yang L, Zenklusen JC, Zhang J, Ayala B, Baboud J, Chudamani S, Liu J, Lolla L, Naresh R, Pihl T, Sun Q, Wan Y, Wu Y, Ally A, Balasundaram M, Balu S, Beroukhim R, Boden… See abstract for full author list ➔ Cancer Genome Atlas Research Network, et al. Among authors: gibbs ra. N Engl J Med. 2016 Jan 14;374(2):135-45. doi: 10.1056/NEJMoa1505917. Epub 2015 Nov 4. N Engl J Med. 2016. PMID: 26536169 Free PMC article.
GREGoR: Accelerating Genomics for Rare Diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Gibbs RA, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT, Members GP, Carvalho CMB, Gifford CA, May S, Miller DE, Rehm HL, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB, Diseases GRTETGOR, Consortium. Dawood M, et al. Among authors: gibbs ra. ArXiv [Preprint]. 2024 Dec 18:arXiv:2412.14338v1. ArXiv. 2024. PMID: 39764392 Free PMC article. Preprint.
Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia.
Li R, Gagliano Taliun SA, Liao K, Flickinger M, Sobell JL, Genovese G, Locke AE, Chiu RR, LeFaive J, Martins T, Chapman S, Neumann A, Handsaker RE, Arnett DK, Barnes KC, Boerwinkle E, Braff D, Cade BE, Fornage M, Gibbs RA, Hoth KF, Hou L, Kooperberg C, Loos RJF, Metcalf GA, Montgomery CG, Morrison AC, Qin ZS, Redline S, Reiner AP, Rich SS, Rotter JI, Taylor KD, Viaud-Martinez KA; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Genomic Psychiatry Cohort investigators; Bigdeli TB, Gabriel S, Zollner S, Smith AV, Abecasis G, McCarroll S, Pato MT, Pato CN, Boehnke M, Knowles J, Kang HM, Ophoff RA, Ernst J, Scott LJ. Li R, et al. Among authors: gibbs ra. medRxiv [Preprint]. 2024 Dec 29:2024.12.27.24319111. doi: 10.1101/2024.12.27.24319111. medRxiv. 2024. PMID: 39763555 Free PMC article. Preprint.
Genomic Data and Privacy.
Myers CT, Kumar RD, Pilgram L, Bonomi L, Thomas M, Griffith OL, Fullerton SM, Gibbs RA. Myers CT, et al. Among authors: gibbs ra. Clin Chem. 2025 Jan 3;71(1):10-17. doi: 10.1093/clinchem/hvae184. Clin Chem. 2025. PMID: 39749498 No abstract available.
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Pehlivan D, Bengtsson JD, Bajikar SS, Grochowski CM, Lun MY, Gandhi M, Jolly A, Trostle AJ, Harris HK, Suter B, Aras S, Ramocki MB, Du H, Mehaffey MG, Park K, Wilkey E, Karakas C, Eisfeldt JJ, Pettersson M, Liu L, Shinawi MS, Kimonis VE, Wiszniewski W, Mckenzie K, Roser T, Vianna-Morgante AM, Cornier AS, Abdelmoity A, Hwang JP, Jhangiani SN, Muzny DM, Mitani T, Muramatsu K, Nabatame S, Glaze DG, Fatih JM, Gibbs RA, Liu Z, Lindstrand A, Sedlazeck FJ, Lupski JR, Zoghbi HY, Carvalho CMB. Pehlivan D, et al. Among authors: gibbs ra. Genome Med. 2024 Dec 18;16(1):146. doi: 10.1186/s13073-024-01411-7. Genome Med. 2024. PMID: 39696717 Free PMC article.
The impact of the Turkish population variome on the genomic architecture of rare disease traits.
Coban-Akdemir Z, Song X, Ceballos FC, Pehlivan D, Karaca E, Bayram Y, Mitani T, Gambin T, Bozkurt-Yozgatli T, Jhangiani SN, Muzny DM, Lewis RA, Liu P, Boerwinkle E, Hamosh A, Gibbs RA, Sutton VR, Sobreira N, Carvalho CMB, Shaw CA, Posey JE, Valle D, Lupski JR. Coban-Akdemir Z, et al. Among authors: gibbs ra. Genet Med Open. 2024 Feb 14;2:101830. doi: 10.1016/j.gimo.2024.101830. eCollection 2024. Genet Med Open. 2024. PMID: 39669594 Free PMC article.
896 results