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Page 1
The genetic history of Scandinavia from the Roman Iron Age to the present.
Rodríguez-Varela R, Moore KHS, Ebenesersdóttir SS, Kilinc GM, Kjellström A, Papmehl-Dufay L, Alfsdotter C, Berglund B, Alrawi L, Kashuba N, Sobrado V, Lagerholm VK, Gilbert E, Cavalleri GL, Hovig E, Kockum I, Olsson T, Alfredsson L, Hansen TF, Werge T, Munters AR, Bernhardsson C, Skar B, Christophersen A, Turner-Walker G, Gopalakrishnan S, Daskalaki E, Omrak A, Pérez-Ramallo P, Skoglund P, Girdland-Flink L, Gunnarsson F, Hedenstierna-Jonson C, Gilbert MTP, Lidén K, Jakobsson M, Einarsson L, Victor H, Krzewińska M, Zachrisson T, Storå J, Stefánsson K, Helgason A, Götherström A. Rodríguez-Varela R, et al. Among authors: cavalleri gl. Cell. 2023 Jan 5;186(1):32-46.e19. doi: 10.1016/j.cell.2022.11.024. Cell. 2023. PMID: 36608656 Free article.
Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients.
McCormack M, Gui H, Ingason A, Speed D, Wright GEB, Zhang EJ, Secolin R, Yasuda C, Kwok M, Wolking S, Becker F, Rau S, Avbersek A, Heggeli K, Leu C, Depondt C, Sills GJ, Marson AG, Auce P, Brodie MJ, Francis B, Johnson MR, Koeleman BPC, Striano P, Coppola A, Zara F, Kunz WS, Sander JW, Lerche H, Klein KM, Weckhuysen S, Krenn M, Gudmundsson LJ, Stefánsson K, Krause R, Shear N, Ross CJD, Delanty N; EPIGEN Consortium;; Pirmohamed M, Carleton BC; Canadian Pharmacogenomics Network for Drug Safety;; Cendes F, Lopes-Cendes I, Liao WP, O'Brien TJ, Sisodiya SM; EpiPGX Consortium;; Cherny S, Kwan P, Baum L; International League Against Epilepsy Consortium on Complex Epilepsies;; Cavalleri GL. McCormack M, et al. Among authors: cavalleri gl. Neurology. 2018 Jan 23;90(4):e332-e341. doi: 10.1212/WNL.0000000000004853. Epub 2017 Dec 29. Neurology. 2018. PMID: 29288229 Free PMC article.
Donor genetic burden for cerebrovascular risk and kidney transplant outcome.
Collins KE, Gilbert E, Mauduit V, Benson KA, Elhassan EAE, O'Seaghdha C, Hill C, McKnight AJ, Maxwell AP, van der Most PJ, de Borst MH, Guan W, Jacobson PA, Israni AK, Keating BJ, Lord GM, Markkinen S, Helanterä I, Hyvärinen K, Partanen J, Madden SF, Limou S, Cavalleri GL, Conlon PJ. Collins KE, et al. Among authors: cavalleri gl. J Nephrol. 2024 May 29. doi: 10.1007/s40620-024-01973-0. Online ahead of print. J Nephrol. 2024. PMID: 38809363
A WORLDWIDE ENIGMA STUDY ON EPILEPSY-RELATED GRAY AND WHITE MATTER COMPROMISE ACROSS THE ADULT LIFESPAN.
Chen J, Ngo A, Rodríguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Alvim MKM, Bonilha L, Gleichgerrcht E, Focke NK, Kreilkamp B, Domin M, von Podewils F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, Bender B, O'Brien TJ, Sinclair B, Vivash L, Kwan P, Desmond PM, Lui E, Duma GM, Bonanni P, Ballerini A, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kälviäinen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Rüber T, Bauer T, Weber B, Caldairou B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Pardoe H, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Arienzo D, Vos SB, Ryten M, Taylor PN, Duncan JS, Whelan CD, Galovic M, Winston GP, Thomopoulos SI, Thompson PM, Sisodiya SM, Labate A, McDonald CR, Caciagli L, Bernasconi N, Bernasconi A, Larivière S, Schrader D, Bernhardt BC. Chen J, et al. Among authors: cavalleri gl. bioRxiv [Preprint]. 2024 Mar 6:2024.03.02.583073. doi: 10.1101/2024.03.02.583073. bioRxiv. 2024. PMID: 38496668 Free PMC article. Preprint.
Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.
Carton RJ, Doyle MG, Kearney H, Steward CA, Lench NJ, Rogers A, Heinzen EL, McDonald S, Fay J, Lacey A, Beausang A, Cryan J, Brett F, El-Naggar H, Widdess-Walsh P, Costello D, Kilbride R, Doherty CP, Sweeney KJ, O'Brien DF, Henshall DC, Delanty N, Cavalleri GL, Benson KA. Carton RJ, et al. Among authors: cavalleri gl. Epilepsia. 2024 May;65(5):1451-1461. doi: 10.1111/epi.17943. Epub 2024 Mar 16. Epilepsia. 2024. PMID: 38491957
Familial Variability of Disease Severity in Adult Patients With ADPKD.
Elhassan EAE, O'Kelly P, Collins KE, Teltsh O, Ciurli F, Murray SL, Kennedy C, Madden SF, Benson KA, Cavalleri GL, Conlon PJ. Elhassan EAE, et al. Among authors: cavalleri gl. Kidney Int Rep. 2023 Dec 12;9(3):649-660. doi: 10.1016/j.ekir.2023.12.002. eCollection 2024 Mar. Kidney Int Rep. 2023. PMID: 38481516 Free PMC article.
Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders.
Lawrence ES, Gu W, Bohlender RJ, Anza-Ramirez C, Cole AM, Yu JJ, Hu H, Heinrich EC, O'Brien KA, Vasquez CA, Cowan QT, Bruck PT, Mercader K, Alotaibi M, Long T, Hall JE, Moya EA, Bauk MA, Reeves JJ, Kong MC, Salem RM, Vizcardo-Galindo G, Macarlupu JL, Figueroa-Mujíca R, Bermudez D, Corante N, Gaio E, Fox KP, Salomaa V, Havulinna AS, Murray AJ, Malhotra A, Powel FL, Jain M, Komor AC, Cavalleri GL, Huff CD, Villafuerte FC, Simonson TS. Lawrence ES, et al. Among authors: cavalleri gl. Sci Adv. 2024 Feb 9;10(6):eadj5661. doi: 10.1126/sciadv.adj5661. Epub 2024 Feb 9. Sci Adv. 2024. PMID: 38335297 Free PMC article.
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, Johnson MR, Striano P, Lerche H, Furney SJ, Delanty N; Consortium EpiPGX; Sisodiya SM, Cavalleri GL. Boothman I, et al. Among authors: cavalleri gl. Front Neurosci. 2023 Sep 8;17:1156362. doi: 10.3389/fnins.2023.1156362. eCollection 2023. Front Neurosci. 2023. PMID: 37790589 Free PMC article.
149 results