Foto del docente

Elena Bacchelli

Associate Professor

Department of Pharmacy and Biotechnology

Academic discipline: BIOS-14/A Genetics

Publications

Bonora E;Graziano C;Minopoli F;Bacchelli E;Magini P;Diquigiovanni C;Lomartire S;Bianco F;Vargiolu M;Parchi P;Marasco E;Mantovani V;Rampoldi L;Trudu M;Parmeggiani A;Battaglia A;Mazzone L;Tortora G;Maestrini E;Seri M;Romeo G;IMGSAC, Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., «EMBO MOLECULAR MEDICINE», 2014, 6, pp. 795 - 809 [Scientific article]Open Access

Casey JP; Magalhaes T; Conroy JM; Regan R; Shah N; Anney R; Shields DC; Abrahams BS; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bolton PF; Bourgeron T; Brennan S; Cali P; Correia C; Corsello C; Coutanche M; Dawson G; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Foley S; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Green J; Guter SJ; Hakonarson H; Holt R; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Lamb JA; Leboyer M; Le Couteur A; Leventhal BL; Lord C; Lund SC; Maestrini E; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Miller J; Minopoli F; Mirza GK; Munson J; Nelson SF; Nygren G; Oliveira G; Pagnamenta AT; Papanikolaou K; Parr JR; Parrini B; Pickles A; Pinto D; Piven J; Posey DJ; Poustka A; Poustka F; Ragoussis J; Roge B; Rutter ML; Sequeira AF; Soorya L; Sousa I; Sykes N; Stoppioni V; Tancredi R; Tauber M; Thompson AP; Thomson S;, A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder., «HUMAN GENETICS», 2012, 131, pp. 565 - 579 [Scientific article]

Leblond C.S.; Heinrich J.; Delorme R.; Proepper C.; Betancur C.; Huguet G.; Konyukh M.; Chaste P| Ey E.; Rastam M.; Anckarsäter H.; Nygren G.; Gillberg IC.; Melke J.; Toro R.; Regnault B.; Fauchereau F.; Mercati O.; Lemière N.; Skuse D.; Poot M.; Holt R.; Monaco A.P.; Järvelä I.; Kantojärvi K.; Vanhala R.; Curran S.; Collier D.A.; Bolton P.; Chiocchetti A.; Klauck S.M.; Poustka F.; Freitag C.M.; Waltes R.; Kopp M.; Duketis E.; Bacchelli E.; Minopoli F.; Ruta L.; Battaglia A.; Mazzone L.; Maestrini E.; Sequeira A.F.; Oliveira B.; Vicente A.; Oliveira G.; Pinto D.; Scherer S.W.; Zelenika D.; Delepine M.; Lathrop M.; Bonneau D.; Guinchat V.; Devillard F.; Assouline B.; Mouren M.C.; Leboyer M.; Gillberg C.; Boeckers T.M.; Bourgeron T., Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders., «PLOS GENETICS», 2012, 8, Article number: e1002521 , pp. 1 - 17 [Scientific article]

Anney R; Klei L; Pinto D; Almeida J; Bacchelli E; Baird G; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Casey J; Conroy J; Correia C; Corsello C; Crawford EL; de Jonge M; Delorme R; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Gilbert J; Gillberg C; Glessner JT; Green A; Green J; Guter SJ; Heron EA; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Jacob S; Kenny GP; Kim C; Kolevzon A; Kustanovich V; Lajonchere CM; Lamb JA; Law-Smith M; Leboyer M; Le Couteur A; Leventhal BL; Liu XQ; Lombard F; Lord C; Lotspeich L; Lund SC; Magalhaes TR; Mantoulan C; McDougle CJ; Melhem NM; Merikangas A; Minshew NJ; Mirza GK; Munson J; Noakes C; Nygren G; Papanikolaou K; Pagnamenta AT; Parrini B; Paton T; Pickles A; Posey DJ; Poustka F; Ragoussis J; Regan R; Roberts W; Roeder K; Roge B; Rutter ML; Schlitt S; Shah N; Sheffield VC; Soorya L; Sousa I; Stoppioni V; Sykes N; Tancredi R; Thompson AP; Thomson S; Tryfon A; Tsiantis J; Van Engeland H; Vincent , Individual common variants exert weak effects on the risk for autism spectrum disorders., «HUMAN MOLECULAR GENETICS», 2012, 21, pp. 4781 - 4792 [Scientific article]

Anney R; Klei L; Pinto D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Sykes N; Pagnamenta AT; Almeida J; Bacchelli E; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Carson AR; Casallo G; Casey J; Chu SH; Cochrane L; Corsello C; Crawford EL; Crossett A; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Melhem NM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson SF; Noakes C; Noor A; Nygren G; Oli, A genome-wide scan for common alleles affecting risk for autism., «HUMAN MOLECULAR GENETICS», 2010, 19(20), pp. 4072 - 4082 [Scientific article]

Pagnamenta AT; Bacchelli E; de Jonge MV; Mirza G; Scerri TS; Minopoli F; Chiocchetti A; Ludwig KU; Hoffmann P; Paracchini S; Lowy E; Harold DH; Chapman JA; Klauck SM; Poustka F; Houben RH; Staal WG; Ophoff RA; O'Donovan MC; Williams J; Nöthen MM; Schulte-Körne G; Deloukas P; Ragoussis J; Bailey AJ; Maestrini E; Monaco AP; International Molecular Genetic Study Of Autism Consortium, Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia., «BIOLOGICAL PSYCHIATRY», 2010, 68(4), pp. 320 - 328 [Scientific article]

Pinto D; Pagnamenta AT; Klei L; Anney R; Merico D; Regan R; Conroy J; Magalhaes TR; Correia C; Abrahams BS; Almeida J; Bacchelli E; Bader GD; Bailey AJ; Baird G; Battaglia A; Berney T; Bolshakova N; Bölte S; Bolton PF; Bourgeron T; Brennan S; Brian J; Bryson SE; Carson AR; Casallo G; Casey J; Chung BH; Cochrane L; Corsello C; Crawford EL; Crossett A; Cytrynbaum C; Dawson G; de Jonge M; Delorme R; Drmic I; Duketis E; Duque F; Estes A; Farrar P; Fernandez BA; Folstein SE; Fombonne E; Freitag CM; Gilbert J; Gillberg C; Glessner JT; Goldberg J; Green A; Green J; Guter SJ; Hakonarson H; Heron EA; Hill M; Holt R; Howe JL; Hughes G; Hus V; Igliozzi R; Kim C; Klauck SM; Kolevzon A; Korvatska O; Kustanovich V; Lajonchere CM; Lamb JA; Laskawiec M; Leboyer M; Le Couteur A; Leventhal BL; Lionel AC; Liu XQ; Lord C; Lotspeich L; Lund SC; Maestrini E; Mahoney W; Mantoulan C; Marshall CR; McConachie H; McDougle CJ; McGrath J; McMahon WM; Merikangas A; Migita O; Minshew NJ; Mirza GK; Munson J; Nelson, Functional impact of global rare copy number variation in autism spectrum disorders., «NATURE», 2010, 466(7304), pp. 368 - 372 [Scientific article]

Maestrini E; Pagnamenta AT; Lamb JA; Bacchelli E; Sykes NH; Sousa I; Toma C; Barnby G; Butler H; Winchester L; Scerri TS; Minopoli F; Reichert J; Cai G; Buxbaum JD; Korvatska O; Schellenberg GD; Dawson G; Bildt AD; Minderaa RB; Mulder EJ; Morris AP; Bailey AJ; Monaco AP., High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility., «MOLECULAR PSYCHIATRY», 2010, Epub Apr 28 2009, pp. 1 - 15 [Scientific article]

Holt R; Barnby G; Maestrini E; Bacchelli E; Brocklebank D; Sousa I; Mulder EJ; Kantojärvi K; Järvelä I; Klauck SM; Poustka F; Bailey AJ; Monaco AP; EU Autism MOLGEN Consortium, Linkage and candidate gene studies of autism spectrum disorders in European populations., «EUROPEAN JOURNAL OF HUMAN GENETICS», 2010, 18(9), pp. 1013 - 1019 [Scientific article]

Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S; International Molecular Genetic Study of Autism Consortium, Lamb JA, Maestrini E, Volpi EV, Mohammed S, Baird G, Monaco AP., Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developmental delays with communication impairment., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART A», 2009, 149, pp. 588 - 597 [Scientific article]

Gong X; Bacchelli E; Blasi F; Toma C; Betancur C; Chaste P; Delorme R; Durand CM; Fauchereau F; Botros HG; Leboyer M; Mouren-Simeoni MC; Nygren G; Anckarsäter H; Rastam M; Gillberg IC; Gillberg C; Moreno-De-Luca D; Carone S; Nummela I; Rossi M; Battaglia A; International Molecular Genetic Study of Autism Consortium (IMGSAC); Jarvela I; Maestrini E; Bourgeron T., Analysis of X chromosome inactivation in autism spectrum disorders., «AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS», 2008, 147B, pp. 830 - 835 [Scientific article]

Toma C; Rossi M; Sousa I; Blasi F; Bacchelli E; Alen R; Vanhala R; Monaco AP; Järvelä I; Maestrini E, Is ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populations., «MOLECULAR PSYCHIATRY», 2007, 12, pp. 977 - 979 [Scientific article]

Autism Genome Project Consortium; Szatmari P; Paterson AD; Zwaigenbaum L; Roberts W; Brian J; Liu XQ; Vincent JB; Skaug JL; Thompson AP; Senman L; Feuk L; Qian C; Bryson SE; Jones MB; Marshall CR; Scherer SW; Vieland VJ; Bartlett C; Mangin LV; Goedken R; Segre A; Pericak-Vance MA; Cuccaro ML; Gilbert JR; Wright HH; Abramson RK; Betancur C; Bourgeron T; Gillberg C; Leboyer M; Buxbaum JD; Davis KL; Hollander E; Silverman JM; Hallmayer J; Lotspeich L; Sutcliffe JS; Haines JL; Folstein SE; Piven J; Wassink TH; Sheffield V; Geschwind DH; Bucan M; Brown WT; Cantor RM; Constantino JN; Gilliam TC; Herbert M; Lajonchere C; Ledbetter DH; Lese-Martin C; Miller J; Nelson S; Samango-Sprouse CA; Spence S; State M; Tanzi RE; Coon H; Dawson G; Devlin B; Estes A; Flodman P; Klei L; McMahon WM; Minshew N; Munson J; Korvatska E; Rodier PM; Schellenberg GD; Smith M; Spence MA; Stodgell C; Tepper PG; Wijsman EM; Yu CE; Roge B; Mantoulan C; Wittemeyer K; Poustka A; Felder B; Klauck SM; Schuster C; Poustka , Mapping autism risk loci using genetic linkage and chromosomal rearrangements, «NATURE GENETICS», 2007, 39, pp. 319 - 328 [Scientific article]

Blasi F.; Bacchelli E.; Pesaresi G.; Carone S.; Bailey A.J.; Maestrini E., Absence of coding mutations in the X-linked genes Neuroligin 3 and Neuroligin 4 in individuals with autism from the IMGSAC collection, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS», 2006, 141, pp. 220 - 221 [Scientific article]

Bacchelli E.; Maestrini E., Autism spectrum disorders: molecular genetic advances, «AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS», 2006, 142, pp. 13 - 23 [Scientific article]

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