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Items: 44

1.

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.

Ganna A, Satterstrom FK, Zekavat SM, Das I, Kurki MI, Churchhouse C, Alfoldi J, Martin AR, Havulinna AS, Byrnes A, Thompson WK, Nielsen PR, Karczewski KJ, Saarentaus E, Rivas MA, Gupta N, Pietiläinen O, Emdin CA, Lescai F, Bybjerg-Grauholm J, Flannick J; GoT2D/T2D-GENES Consortium, Mercader JM, Udler M; SIGMA Consortium Helmsley IBD Exome Sequencing Project; FinMetSeq Consortium; iPSYCH-Broad Consortium, Laakso M, Salomaa V, Hultman C, Ripatti S, Hämäläinen E, Moilanen JS, Körkkö J, Kuismin O, Nordentoft M, Hougaard DM, Mors O, Werge T, Mortensen PB, MacArthur D, Daly MJ, Sullivan PF, Locke AE, Palotie A, Børglum AD, Kathiresan S, Neale BM.

Am J Hum Genet. 2018 Jun 7;102(6):1204-1211. doi: 10.1016/j.ajhg.2018.05.002. Epub 2018 May 31.

2.

Editorial.

Navarro AB, Lescai F.

N Biotechnol. 2018 Jan 25;40(Pt B):185. doi: 10.1016/j.nbt.2017.11.001. No abstract available.

PMID:
29197469
3.

Sequencing and de novo assembly of 150 genomes from Denmark as a population reference.

Maretty L, Jensen JM, Petersen B, Sibbesen JA, Liu S, Villesen P, Skov L, Belling K, Theil Have C, Izarzugaza JMG, Grosjean M, Bork-Jensen J, Grove J, Als TD, Huang S, Chang Y, Xu R, Ye W, Rao J, Guo X, Sun J, Cao H, Ye C, van Beusekom J, Espeseth T, Flindt E, Friborg RM, Halager AE, Le Hellard S, Hultman CM, Lescai F, Li S, Lund O, Løngren P, Mailund T, Matey-Hernandez ML, Mors O, Pedersen CNS, Sicheritz-Pontén T, Sullivan P, Syed A, Westergaard D, Yadav R, Li N, Xu X, Hansen T, Krogh A, Bolund L, Sørensen TIA, Pedersen O, Gupta R, Rasmussen S, Besenbacher S, Børglum AD, Wang J, Eiberg H, Kristiansen K, Brunak S, Schierup MH.

Nature. 2017 Aug 3;548(7665):87-91. doi: 10.1038/nature23264. Epub 2017 Jul 26.

PMID:
28746312
4.

In memory of Professor Brian Frederic Carl Clark: Contributions from friends.

Lescai F, Diderichsen B, Van Montagu M, Cole J.

N Biotechnol. 2017 Sep 25;38(Pt A):3-4. doi: 10.1016/j.nbt.2017.02.005. Epub 2017 Mar 14. No abstract available.

PMID:
28315468
5.

Whole-exome sequencing of individuals from an isolated population implicates rare risk variants in bipolar disorder.

Lescai F, Als TD, Li Q, Nyegaard M, Andorsdottir G, Biskopstø M, Hedemand A, Fiorentino A, O'Brien N, Jarram A, Liang J, Grove J, Pallesen J, Eickhardt E, Mattheisen M, Bolund L, Demontis D, Wang AG, McQuillin A, Mors O, Wang J, Børglum AD.

Transl Psychiatry. 2017 Feb 14;7(2):e1034. doi: 10.1038/tp.2017.3.

6.

Special issue of new biotechnology in memory of professor Brian F.C. Clark (1936-2014).

Lescai F.

N Biotechnol. 2017 Sep 25;38(Pt A):1. doi: 10.1016/j.nbt.2016.11.007. Epub 2016 Nov 30. No abstract available.

PMID:
27915060
7.

Whole-exome sequencing implicates DGKH as a risk gene for panic disorder in the Faroese population.

Gregersen NO, Lescai F, Liang J, Li Q, Als T, Buttenschøn HN, Hedemand A, Biskopstø M, Wang J, Wang AG, Børglum AD, Mors O, Demontis D.

Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1013-1022. doi: 10.1002/ajmg.b.32464. Epub 2016 Jun 3.

PMID:
27255576
8.

Whole-Exome Sequencing Reveals Increased Burden of Rare Functional and Disruptive Variants in Candidate Risk Genes in Individuals With Persistent Attention-Deficit/Hyperactivity Disorder.

Demontis D, Lescai F, Børglum A, Glerup S, Østergaard SD, Mors O, Li Q, Liang J, Jiang H, Li Y, Wang J, Lesch KP, Reif A, Buitelaar JK, Franke B.

J Am Acad Child Adolesc Psychiatry. 2016 Jun;55(6):521-3. doi: 10.1016/j.jaac.2016.03.009. No abstract available.

PMID:
27238071
9.

High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.

Poulsen JB, Lescai F, Grove J, Bækvad-Hansen M, Christiansen M, Hagen CM, Maller J, Stevens C, Li S, Li Q, Sun J, Wang J, Nordentoft M, Werge TM, Mortensen PB, Børglum AD, Daly M, Hougaard DM, Bybjerg-Grauholm J, Hollegaard MV.

PLoS One. 2016 Apr 18;11(4):e0153253. doi: 10.1371/journal.pone.0153253. eCollection 2016.

10.

Editorial.

Lescai F, Rudelsheim P.

N Biotechnol. 2015 Dec 25;32(6):533. doi: 10.1016/j.nbt.2015.07.009. No abstract available.

PMID:
26348022
11.

Experimental validation of methods for differential gene expression analysis and sample pooling in RNA-seq.

Rajkumar AP, Qvist P, Lazarus R, Lescai F, Ju J, Nyegaard M, Mors O, Børglum AD, Li Q, Christensen JH.

BMC Genomics. 2015 Jul 25;16:548. doi: 10.1186/s12864-015-1767-y.

12.

The use of whole-exome sequencing to disentangle complex phenotypes.

Williams HJ, Hurst JR, Ocaka L, James C, Pao C, Chanudet E, Lescai F, Stanescu HC, Kleta R; GOSgene, Rosser E, Bacchelli C, Beales P.

Eur J Hum Genet. 2016 Feb;24(2):298-301. doi: 10.1038/ejhg.2015.121. Epub 2015 Jun 10.

13.

STAG3 truncating variant as the cause of primary ovarian insufficiency.

Le Quesne Stabej P, Williams HJ, James C, Tekman M, Stanescu HC, Kleta R, Ocaka L, Lescai F, Storr HL, Bitner-Glindzicz M, Bacchelli C, Conway GS; GOSgene.

Eur J Hum Genet. 2016 Jan;24(1):135-8. doi: 10.1038/ejhg.2015.107. Epub 2015 Jun 10.

14.

Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios.

Besenbacher S, Liu S, Izarzugaza JM, Grove J, Belling K, Bork-Jensen J, Huang S, Als TD, Li S, Yadav R, Rubio-García A, Lescai F, Demontis D, Rao J, Ye W, Mailund T, Friborg RM, Pedersen CN, Xu R, Sun J, Liu H, Wang O, Cheng X, Flores D, Rydza E, Rapacki K, Damm Sørensen J, Chmura P, Westergaard D, Dworzynski P, Sørensen TI, Lund O, Hansen T, Xu X, Li N, Bolund L, Pedersen O, Eiberg H, Krogh A, Børglum AD, Brunak S, Kristiansen K, Schierup MH, Wang J, Gupta R, Villesen P, Rasmussen S.

Nat Commun. 2015 Jan 19;6:5969. doi: 10.1038/ncomms6969.

15.

The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes.

Waters AM, Asfahani R, Carroll P, Bicknell L, Lescai F, Bright A, Chanudet E, Brooks A, Christou-Savina S, Osman G, Walsh P, Bacchelli C, Chapgier A, Vernay B, Bader DM, Deshpande C, O' Sullivan M, Ocaka L, Stanescu H, Stewart HS, Hildebrandt F, Otto E, Johnson CA, Szymanska K, Katsanis N, Davis E, Kleta R, Hubank M, Doxsey S, Jackson A, Stupka E, Winey M, Beales PL.

J Med Genet. 2015 Mar;52(3):147-56. doi: 10.1136/jmedgenet-2014-102691. Epub 2015 Jan 6. Erratum in: J Med Genet. 2016 Oct 13;:.

16.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

Thomas AC, Williams H, Setó-Salvia N, Bacchelli C, Jenkins D, O'Sullivan M, Mengrelis K, Ishida M, Ocaka L, Chanudet E, James C, Lescai F, Anderson G, Morrogh D, Ryten M, Duncan AJ, Pai YJ, Saraiva JM, Ramos F, Farren B, Saunders D, Vernay B, Gissen P, Straatmaan-Iwanowska A, Baas F, Wood NW, Hersheson J, Houlden H, Hurst J, Scott R, Bitner-Glindzicz M, Moore GE, Sousa SB, Stanier P.

Am J Hum Genet. 2014 Nov 6;95(5):611-21. doi: 10.1016/j.ajhg.2014.10.007. Epub 2014 Nov 6. Erratum in: Am J Hum Genet. 2015 Jun 4;96(6):1008-9.

17.

Identification and validation of loss of function variants in clinical contexts.

Lescai F, Marasco E, Bacchelli C, Stanier P, Mantovani V, Beales P.

Mol Genet Genomic Med. 2014 Jan;2(1):58-63. doi: 10.1002/mgg3.42. Epub 2013 Oct 11.

18.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice.

Kelberman D, Islam L, Lakowski J, Bacchelli C, Chanudet E, Lescai F, Patel A, Stupka E, Buck A, Wolf S, Beales PL, Jacques TS, Bitner-Glindzicz M, Liasis A, Lehmann OJ, Kohlhase J, Nischal KK, Sowden JC.

Hum Mol Genet. 2014 May 15;23(10):2511-26. doi: 10.1093/hmg/ddt643. Epub 2014 Jan 9.

19.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

Webb EA, AlMutair A, Kelberman D, Bacchelli C, Chanudet E, Lescai F, Andoniadou CL, Banyan A, Alsawaid A, Alrifai MT, Alahmesh MA, Balwi M, Mousavy-Gharavy SN, Lukovic B, Burke D, McCabe MJ, Kasia T, Kleta R, Stupka E, Beales PL, Thompson DA, Chong WK, Alkuraya FS, Martinez-Barbera JP, Sowden JC, Dattani MT.

Brain. 2013 Oct;136(Pt 10):3096-105. doi: 10.1093/brain/awt218. Epub 2013 Sep 10.

20.

Characterisation and validation of insertions and deletions in 173 patient exomes.

Lescai F, Bonfiglio S, Bacchelli C, Chanudet E, Waters A, Sisodiya SM, Kasperavičiūtė D, Williams J, Harold D, Hardy J, Kleta R, Cirak S, Williams R, Achermann JC, Anderson J, Kelsell D, Vulliamy T, Houlden H, Wood N, Sheerin U, Tonini GP, Mackay D, Hussain K, Sowden J, Kinsler V, Osinska J, Brooks T, Hubank M, Beales P, Stupka E.

PLoS One. 2012;7(12):e51292. doi: 10.1371/journal.pone.0051292. Epub 2012 Dec 14.

21.

Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.

Su Z, Gay LJ, Strange A, Palles C, Band G, Whiteman DC, Lescai F, Langford C, Nanji M, Edkins S, van der Winkel A, Levine D, Sasieni P, Bellenguez C, Howarth K, Freeman C, Trudgill N, Tucker AT, Pirinen M, Peppelenbosch MP, van der Laan LJ, Kuipers EJ, Drenth JP, Peters WH, Reynolds JV, Kelleher DP, McManus R, Grabsch H, Prenen H, Bisschops R, Krishnadath K, Siersema PD, van Baal JW, Middleton M, Petty R, Gillies R, Burch N, Bhandari P, Paterson S, Edwards C, Penman I, Vaidya K, Ang Y, Murray I, Patel P, Ye W, Mullins P, Wu AH, Bird NC, Dallal H, Shaheen NJ, Murray LJ, Koss K, Bernstein L, Romero Y, Hardie LJ, Zhang R, Winter H, Corley DA, Panter S, Risch HA, Reid BJ, Sargeant I, Gammon MD, Smart H, Dhar A, McMurtry H, Ali H, Liu G, Casson AG, Chow WH, Rutter M, Tawil A, Morris D, Nwokolo C, Isaacs P, Rodgers C, Ragunath K, MacDonald C, Haigh C, Monk D, Davies G, Wajed S, Johnston D, Gibbons M, Cullen S, Church N, Langley R, Griffin M, Alderson D, Deloukas P, Hunt SE, Gray E, Dronov S, Potter SC, Tashakkori-Ghanbaria A, Anderson M, Brooks C, Blackwell JM, Bramon E, Brown MA, Casas JP, Corvin A, Duncanson A, Markus HS, Mathew CG, Palmer CN, Plomin R, Rautanen A, Sawcer SJ, Trembath RC, Viswanathan AC, Wood N, Trynka G, Wijmenga C, Cazier JB, Atherfold P, Nicholson AM, Gellatly NL, Glancy D, Cooper SC, Cunningham D, Lind T, Hapeshi J, Ferry D, Rathbone B, Brown J, Love S, Attwood S, MacGregor S, Watson P, Sanders S, Ek W, Harrison RF, Moayyedi P, de Caestecker J, Barr H, Stupka E, Vaughan TL, Peltonen L, Spencer CC, Tomlinson I, Donnelly P, Jankowski JA; Esophageal Adenocarcinoma Genetics Consortium; Wellcome Trust Case Control Consortium 2.

Nat Genet. 2012 Oct;44(10):1131-6. doi: 10.1038/ng.2408. Epub 2012 Sep 9.

22.

Paraoxonase-1 55 LL Genotype Is Associated with No ST-Elevation Myocardial Infarction and with High Levels of Myoglobin.

Marchegiani F, Spazzafumo L, Cardelli M, Provinciali M, Lescai F, Franceschi C, Antonicelli R.

J Lipids. 2012;2012:601796. doi: 10.1155/2012/601796. Epub 2012 Mar 25.

23.

Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.

Ellinghaus E, Stanulla M, Richter G, Ellinghaus D, te Kronnie G, Cario G, Cazzaniga G, Horstmann M, Panzer Grümayer R, Cavé H, Trka J, Cinek O, Teigler-Schlegel A, ElSharawy A, Häsler R, Nebel A, Meissner B, Bartram T, Lescai F, Franceschi C, Giordan M, Nürnberg P, Heinzow B, Zimmermann M, Schreiber S, Schrappe M, Franke A.

Leukemia. 2012 May;26(5):902-9. doi: 10.1038/leu.2011.302. Epub 2011 Nov 11.

24.

ParkDB: a Parkinson's disease gene expression database.

Taccioli C, Tegnér J, Maselli V, Gomez-Cabrero D, Altobelli G, Emmett W, Lescai F, Gustincich S, Stupka E.

Database (Oxford). 2011 May 18;2011:bar007. doi: 10.1093/database/bar007. Print 2011.

25.

An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.

Lescai F, Chiamenti AM, Codemo A, Pirazzini C, D'Agostino G, Ruaro C, Ghidoni R, Benussi L, Galimberti D, Esposito F, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Santoro A, Forloni G, Scarpini E, Crepaldi G, Gabelli C, Franceschi C.

J Alzheimers Dis. 2011;24(2):235-45. doi: 10.3233/JAD-2011-101764.

PMID:
21263195
26.

The impact of phenocopy on the genetic analysis of complex traits.

Lescai F, Franceschi C.

PLoS One. 2010 Jul 29;5(7):e11876. doi: 10.1371/journal.pone.0011876.

27.

Failure to replicate an association of rs5984894 SNP in the PCDH11X gene in a collection of 1,222 Alzheimer's disease affected patients.

Lescai F, Pirazzini C, D'Agostino G, Santoro A, Ghidoni R, Benussi L, Galimberti D, Federica E, Marchegiani F, Cardelli M, Olivieri F, Nacmias B, Sorbi S, Bagnoli S, Tagliavini F, Albani D, Martinelli Boneschi F, Binetti G, Forloni G, Quadri P, Scarpini E, Franceschi C.

J Alzheimers Dis. 2010;21(2):385-8. doi: 10.3233/JAD-2010-091516.

PMID:
20555150
28.

Systems biology and longevity: an emerging approach to identify innovative anti-aging targets and strategies.

Cevenini E, Bellavista E, Tieri P, Castellani G, Lescai F, Francesconi M, Mishto M, Santoro A, Valensin S, Salvioli S, Capri M, Zaikin A, Monti D, de Magalhães JP, Franceschi C.

Curr Pharm Des. 2010;16(7):802-13. Review.

PMID:
20388091
29.

Identification of single nucleotide polymorphisms in the p21 (CDKN1A) gene and correlations with longevity in the Italian population.

Gravina S, Lescai F, Hurteau G, Brock GJ, Saramaki A, Salvioli S, Franceschi C, Roninson IB.

Aging (Albany NY). 2009 May;1(5):470-80.

30.

Marie Curie fellowships unraveled an interview with Theodosius Lennon, director directorate T, DG Research, European Commission.

Lescai F.

N Biotechnol. 2009 Apr;25(4):186-7. doi: 10.1016/j.nbt.2008.12.003. Epub 2009 Jan 21. No abstract available.

PMID:
19429535
31.

PON1 is a longevity gene: results of a meta-analysis.

Lescai F, Marchegiani F, Franceschi C.

Ageing Res Rev. 2009 Oct;8(4):277-84. doi: 10.1016/j.arr.2009.04.001. Epub 2009 Apr 17. Review.

PMID:
19376276
32.

Human longevity and 11p15.5: a study in 1321 centenarians.

Lescai F, Blanché H, Nebel A, Beekman M, Sahbatou M, Flachsbart F, Slagboom E, Schreiber S, Sorbi S, Passarino G, Franceschi C.

Eur J Hum Genet. 2009 Nov;17(11):1515-9. doi: 10.1038/ejhg.2009.54. Epub 2009 Apr 15.

33.

Helping young independent scientists: the EMBO Young Investigator Programme Interview with Gerlind Wallon, Deputy Executive Director, EMBO Young Investigator Programme.

Lescai F.

N Biotechnol. 2008 Oct-Dec;25(2-3):120-1. doi: 10.1016/j.nbt.2008.08.002. Epub 2008 Aug 19. No abstract available.

PMID:
18723133
34.

Human models of aging and longevity.

Cevenini E, Invidia L, Lescai F, Salvioli S, Tieri P, Castellani G, Franceschi C.

Expert Opin Biol Ther. 2008 Sep;8(9):1393-405. doi: 10.1517/14712598.8.9.1393 . Review.

PMID:
18694357
35.

Association between the interleukin-1beta polymorphisms and Alzheimer's disease: a systematic review and meta-analysis.

Di Bona D, Plaia A, Vasto S, Cavallone L, Lescai F, Franceschi C, Licastro F, Colonna-Romano G, Lio D, Candore G, Caruso C.

Brain Res Rev. 2008 Nov;59(1):155-63. doi: 10.1016/j.brainresrev.2008.07.003. Epub 2008 Jul 21. Review.

PMID:
18675847
36.

A genetic-demographic approach reveals male-specific association between survival and tumor necrosis factor (A/G)-308 polymorphism.

Cardelli M, Cavallone L, Marchegiani F, Oliveri F, Dato S, Montesanto A, Lescai F, Lisa R, De Benedictis G, Franceschi C.

J Gerontol A Biol Sci Med Sci. 2008 May;63(5):454-60.

PMID:
18511747
37.

The Young European Biotech Network (YEBN).

Lescai F.

N Biotechnol. 2008 Jun;25(1):34. doi: 10.1016/j.nbt.2008.04.005. Epub 2008 May 1. No abstract available.

PMID:
18504012
38.

Role of mitochondrial DNA in longevity, aging and age-related diseases in humans: a reappraisal.

Sevini F, Santoro A, Raule N, Lescai F, Franceschi C.

Ital J Biochem. 2007 Dec;56(4):243-53. Review.

PMID:
19192621
39.

Genes, ageing and longevity in humans: problems, advantages and perspectives.

Salvioli S, Olivieri F, Marchegiani F, Cardelli M, Santoro A, Bellavista E, Mishto M, Invidia L, Capri M, Valensin S, Sevini F, Cevenini E, Celani L, Lescai F, Gonos E, Caruso C, Paolisso G, De Benedictis G, Monti D, Franceschi C.

Free Radic Res. 2006 Dec;40(12):1303-23. Review.

PMID:
17090420
40.

Complexity of anti-immunosenescence strategies in humans.

Capri M, Monti D, Salvioli S, Lescai F, Pierini M, Altilia S, Sevini F, Valensin S, Ostan R, Bucci L, Franceschi C.

Artif Organs. 2006 Oct;30(10):730-42. Review.

PMID:
17026572
41.

Genotype of inflammatory cytokines in limbal stem cell graft in Italian patients.

Lescai F, Conti L, Bartolozzi M, Ramazzotti G, Mazzi M, Sarnicola V, Franceschi C.

Biochem Biophys Res Commun. 2005 Jun 24;332(1):95-100.

PMID:
15896304
42.

Young scientist: Italian biotechnologists organize.

Lescai F, Quarta M.

Nature. 2003 Oct 9;425(6958):644. No abstract available.

PMID:
14534594
43.

Neuroinflammation and the genetics of Alzheimer's disease: the search for a pro-inflammatory phenotype.

Franceschi C, Valensin S, Lescai F, Olivieri F, Licastro F, Grimaldi LM, Monti D, De Benedictis G, Bonafè M.

Aging (Milano). 2001 Jun;13(3):163-70. Review.

PMID:
11442299
44.

Do men and women follow different trajectories to reach extreme longevity? Italian Multicenter Study on Centenarians (IMUSCE).

Franceschi C, Motta L, Valensin S, Rapisarda R, Franzone A, Berardelli M, Motta M, Monti D, Bonafè M, Ferrucci L, Deiana L, Pes GM, Carru C, Desole MS, Barbi C, Sartoni G, Gemelli C, Lescai F, Olivieri F, Marchegiani F, Cardelli M, Cavallone L, Gueresi P, Cossarizza A, Troiano L, Pini G, Sansoni P, Passeri G, Lisa R, Spazzafumo L, Amadio L, Giunta S, Stecconi R, Morresi R, Viticchi C, Mattace R, De Benedictis G, Baggio G.

Aging (Milano). 2000 Apr;12(2):77-84. Review.

PMID:
10902049

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