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Page 1
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project; Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S. Do R, et al. Among authors: guella i. Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10. Nature. 2015. PMID: 25487149 Free PMC article.
No association of GBA mutations and multiple system atrophy.
Srulijes K, Hauser AK, Guella I, Asselta R, Brockmann K, Schulte C, Soldà G, Cilia R, Maetzler W, Schols L, Wenning GK, Poewe W, Barone P, Wüllner U, Oertel W, Berg D, Goldwurm S, Gasser T. Srulijes K, et al. Among authors: guella i. Eur J Neurol. 2013 Apr;20(4):e61-2. doi: 10.1111/ene.12086. Eur J Neurol. 2013. PMID: 23490118 No abstract available.
RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, Isidor B, Cogné B, Beysen D, Rollier P, Fradin M, Pasquier L, Guella I, Hickey SE, Benke PJ, Shillington A, Kumps C, Vanakker O, Gerkes EH, Lakhani S, Romanova I, Kanivets I, Brugger M, Vill K, Caylor RC, Skinner C, Tinker RJ, Stödberg T, Nümann A, Haack TB, Deininger N, Hengel H, Jury J, Conrad S, Mercier S, Yoon G, Tsuboyama M, Barcia G, Gitiaux C, Rio M, Bevot A, Redon S, Uguen K, Wonneberger A, Schulz A, Timmann D, Karlowicz DH, Chatron N, Carnevale A, Mahida S, Õunap K, Kury S, Cabet S, Lesca G. Talarico M, et al. Among authors: guella i. Genet Med. 2024 Dec 17:101347. doi: 10.1016/j.gim.2024.101347. Online ahead of print. Genet Med. 2024. PMID: 39707840 Free article.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC, Punetha J, Kalanithy JC, Mingardo E, Erdem HB, Akdemir ZC, Karaca E, Mitani T, Marafi D, Fatih JM, Jhangiani SN, Hunter JV, Dakal TC, Dhabhai B, Dabbagh O, Alsaif HS, Alkuraya FS, Maroofian R, Houlden H, Efthymiou S, Dominik N, Salpietro V, Sultan T, Haider S, Bibi F, Thiele H, Hoefele J, Riedhammer KM, Wagner M, Guella I, Demos M, Keren B, Buratti J, Charles P, Nava C, Héron D, Heide S, Valkanas E, Waddell LB, Jones KJ, Oates EC, Cooper ST, MacArthur D, Syrbe S, Ziegler A, Platzer K, Okur V, Chung WK, O'Shea SA, Alcalay R, Fahn S, Mark PR, Guerrini R, Vetro A, Hudson B, Schnur RE, Hoganson GE, Burton JE, McEntagart M, Lindenberg T, Yilmaz Ö, Odermatt B, Pehlivan D, Posey JE, Lupski JR, Reutter H. Dworschak GC, et al. Among authors: guella i. Genet Med. 2021 Sep;23(9):1715-1725. doi: 10.1038/s41436-021-01196-9. Epub 2021 May 30. Genet Med. 2021. PMID: 34054129 Free PMC article.
Hunting for Familial Parkinson's Disease Mutations in the Post Genome Era.
Bentley SR, Guella I, Sherman HE, Neuendorf HM, Sykes AM, Fowdar JY, Silburn PA, Wood SA, Farrer MJ, Mellick GD. Bentley SR, et al. Among authors: guella i. Genes (Basel). 2021 Mar 17;12(3):430. doi: 10.3390/genes12030430. Genes (Basel). 2021. PMID: 33802862 Free PMC article.
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M, Ferretti A, Bebin E, Huh L, Lesca G, Siekierska A, Takeguchi R, Carneiro M, De Palma L, Guella I, Haginoya K, Shi RM, Kikuchi A, Kobayashi T, Jung J, Lagae L, Milh M, Mathieu ML, Minassian BA, Novelli A, Pietrafusa N, Takeshita E, Tartaglia M, Terracciano A, Thompson ML, Cooper GM, Vigevano F, Villard L, Villeneuve N, Buyse GM, Demos M, Scheffer IE, Specchio N. Trivisano M, et al. Among authors: guella i. Epilepsia. 2020 Jul;61(7):e71-e78. doi: 10.1111/epi.16582. Epub 2020 Jul 9. Epilepsia. 2020. PMID: 32645220 Free PMC article.
Functional impairment of cortical AMPA receptors in schizophrenia.
Zeppillo T, Schulmann A, Macciardi F, Hjelm BE, Föcking M, Sequeira PA, Guella I, Cotter D, Bunney WE, Limon A, Vawter MP. Zeppillo T, et al. Among authors: guella i. Schizophr Res. 2022 Nov;249:25-37. doi: 10.1016/j.schres.2020.03.037. Epub 2020 Jun 6. Schizophr Res. 2022. PMID: 32513544 Free PMC article.
60 results