| Year |
Citation |
Score |
| 2023 |
Bacchelli E, Viggiano M, Ceroni F, Visconti P, Posar A, Scaduto M, Sandoni L, Baravelli I, Cameli C, Rochat M, Maresca A, Vaisfeld A, Gentilini D, Calzari L, Carelli V, ... ... Maestrini E, et al. Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder. Research Square. PMID 37961520 DOI: 10.21203/rs.3.rs-3468592/v1 |
0.515 |
|
| 2022 |
Caporali L, Fiorini C, Palombo F, Romagnoli M, Baccari F, Zenesini C, Visconti P, Posar A, Scaduto MC, Ormanbekova D, Battaglia A, Tancredi R, Cameli C, Viggiano M, Olivieri A, ... ... Maestrini E, et al. Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder. Frontiers in Genetics. 13: 953762. PMID 36419830 DOI: 10.3389/fgene.2022.953762 |
0.426 |
|
| 2022 |
Viggiano M, D'Andrea T, Cameli C, Posar A, Visconti P, Scaduto MC, Colucci R, Rochat MJ, Ceroni F, Milazzo G, Fucile S, Maestrini E, Bacchelli E. Contribution of Variants in Autism Spectrum Disorder Susceptibility. Frontiers in Psychiatry. 13: 858238. PMID 35350424 DOI: 10.3389/fpsyt.2022.858238 |
0.417 |
|
| 2021 |
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, ... ... Maestrini E, et al. An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder. Journal of Cellular and Molecular Medicine. PMID 33476483 DOI: 10.1111/jcmm.16161 |
0.49 |
|
| 2020 |
Lin BD, Colas F, Nijman IJ, Medic J, Brands W, Parr JR, van Eijk KR, Klauck SM, Chiocchetti AG, Freitag CM, Maestrini E, Bacchelli E, Coon H, Vicente A, Oliveira G, et al. The role of rare compound heterozygous events in autism spectrum disorder. Translational Psychiatry. 10: 204. PMID 32572023 DOI: 10.1038/S41398-020-00866-7 |
0.48 |
|
| 2020 |
Bacchelli E, Cameli C, Viggiano M, Igliozzi R, Mancini A, Tancredi R, Battaglia A, Maestrini E. An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray. Scientific Reports. 10: 3198. PMID 32081867 DOI: 10.1038/S41598-020-59922-3 |
0.586 |
|
| 2019 |
Loi E, Moi L, Blois S, Bacchelli E, Vega Benedetti AF, Cameli C, Fadda R, Maestrini E, Carta M, Doneddu G, Zavattari P. ELMOD3-SH2D6 gene fusion as a possible co-star actor in autism spectrum disorder scenario. Journal of Cellular and Molecular Medicine. PMID 31800155 DOI: 10.1111/Jcmm.14733 |
0.561 |
|
| 2019 |
Bacchelli E, Loi E, Cameli C, Moi L, Benedetti AFV, Blois S, Fadda A, Bonora E, Mattu S, Fadda R, Chessa R, Maestrini E, Doneddu G, Zavattari P. Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and Identifies as a Functionally Relevant Candidate Gene. Journal of Clinical Medicine. 8. PMID 30736458 DOI: 10.3390/Jcm8020212 |
0.595 |
|
| 2018 |
Cameli C, Bacchelli E, De Paola M, Giucastro G, Cifiello S, Collo G, Cainazzo MM, Pini LA, Maestrini E, Zoli M. Genetic variation in CHRNA7 and CHRFAM7A is associated with nicotine dependence and response to varenicline treatment. European Journal of Human Genetics : Ejhg. PMID 30089821 DOI: 10.1038/S41431-018-0223-2 |
0.311 |
|
| 2018 |
Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, ... ... Maestrini E, et al. Analysis of shared heritability in common disorders of the brain. Science (New York, N.Y.). 360. PMID 29930110 DOI: 10.1126/Science.Aap8757 |
0.44 |
|
| 2016 |
Bacchelli E, Cainazzo MM, Cameli C, Guerzoni S, Martinelli A, Zoli M, Maestrini E, Pini LA. A genome-wide analysis in cluster headache points to neprilysin and PACAP receptor gene variants. The Journal of Headache and Pain. 17: 114. PMID 27957625 DOI: 10.1186/S10194-016-0705-Y |
0.372 |
|
| 2016 |
Torrico B, Chiocchetti AG, Bacchelli E, Trabetti E, Hervás A, Franke B, Buitelaar JK, Rommelse N, Yousaf A, Duketis E, Freitag CM, Caballero-Andaluz R, Martinez-Mir A, Scholl FG, Ribasés M, ... ... Maestrini E, et al. Lack of replication of previous autism spectrum disorder GWAS hits in European populations. Autism Research : Official Journal of the International Society For Autism Research. PMID 27417655 DOI: 10.1002/Aur.1662 |
0.637 |
|
| 2015 |
Torrico B, Fernàndez-Castillo N, Hervás A, Milà M, Salgado M, Rueda I, Buitelaar JK, Rommelse N, Oerlemans AM, Bralten J, Freitag CM, Reif A, Battaglia A, Mazzone L, Maestrini E, et al. Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability. European Journal of Human Genetics : Ejhg. PMID 25782667 DOI: 10.1038/Ejhg.2015.37 |
0.703 |
|
| 2015 |
Bacchelli E, Battaglia A, Cameli C, Lomartire S, Tancredi R, Thomson S, Sutcliffe JS, Maestrini E. Analysis of CHRNA7 rare variants in autism spectrum disorder susceptibility. American Journal of Medical Genetics. Part A. 167: 715-23. PMID 25655306 DOI: 10.1002/Ajmg.A.36847 |
0.528 |
|
| 2014 |
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H, Parr J, ... ... Maestrini E, et al. Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis' European Journal of Human Genetics : Ejhg. PMID 25537359 DOI: 10.1038/Ejhg.2014.275 |
0.427 |
|
| 2014 |
Leblond CS, Nava C, Polge A, Gauthier J, Huguet G, Lumbroso S, Giuliano F, Stordeur C, Depienne C, Mouzat K, Pinto D, Howe J, Lemière N, Durand CM, Guibert J, ... ... Maestrini E, et al. Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments. Plos Genetics. 10: e1004580. PMID 25188300 DOI: 10.1371/Journal.Pgen.1004580 |
0.574 |
|
| 2014 |
Bacchelli E, Ceroni F, Pinto D, Lomartire S, Giannandrea M, D'Adamo P, Bonora E, Parchi P, Tancredi R, Battaglia A, Maestrini E. A CTNNA3 compound heterozygous deletion implicates a role for αT-catenin in susceptibility to autism spectrum disorder. Journal of Neurodevelopmental Disorders. 6: 17. PMID 25050139 DOI: 10.1186/1866-1955-6-17 |
0.544 |
|
| 2014 |
Pinto D, Delaby E, Merico D, Barbosa M, Merikangas A, Klei L, Thiruvahindrapuram B, Xu X, Ziman R, Wang Z, Vorstman JA, Thompson A, Regan R, Pilorge M, Pellecchia G, ... ... Maestrini E, et al. Convergence of genes and cellular pathways dysregulated in autism spectrum disorders. American Journal of Human Genetics. 94: 677-94. PMID 24768552 DOI: 10.1016/J.Ajhg.2014.03.018 |
0.653 |
|
| 2014 |
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, ... ... Maestrini E, et al. Maternally inherited genetic variants of CADPS2 are present in autism spectrum disorders and intellectual disability patients. Embo Molecular Medicine. 6: 795-809. PMID 24737869 DOI: 10.1002/Emmm.201303235 |
0.464 |
|
| 2014 |
Ceroni F, Sagar A, Simpson NH, Gawthrope AJ, Newbury DF, Pinto D, Francis SM, Tessman DC, Cook EH, Monaco AP, Maestrini E, Pagnamenta AT, Jacob S. A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma. Autism Research : Official Journal of the International Society For Autism Research. 7: 254-63. PMID 24634087 DOI: 10.1002/Aur.1365 |
0.553 |
|
| 2014 |
Ceroni F, Simpson NH, Francks C, Baird G, Conti-Ramsden G, Clark A, Bolton PF, Hennessy ER, Donnelly P, Bentley DR, Martin H, Parr J, ... ... Maestrini E, et al. Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. European Journal of Human Genetics : Ejhg. 22: 1165-71. PMID 24518835 DOI: 10.1038/Ejhg.2014.4 |
0.451 |
|
| 2013 |
Lee SH, Ripke S, Neale BM, Faraone SV, Purcell SM, Perlis RH, Mowry BJ, Thapar A, Goddard ME, Witte JS, Absher D, Agartz I, Akil H, Amin F, ... ... Maestrini E, et al. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs. Nature Genetics. 45: 984-94. PMID 23933821 DOI: 10.1038/Ng.2711 |
0.553 |
|
| 2012 |
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, ... ... Maestrini E, et al. Individual common variants exert weak effects on the risk for autism spectrum disorderspi. Human Molecular Genetics. 21: 4781-92. PMID 22843504 DOI: 10.1093/Hmg/Dds301 |
0.625 |
|
| 2012 |
Leblond CS, 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, ... ... Maestrini E, et al. Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders. Plos Genetics. 8: e1002521. PMID 22346768 DOI: 10.1371/Journal.Pgen.1002521 |
0.64 |
|
| 2012 |
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, ... ... Maestrini E, et al. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder. Human Genetics. 131: 565-79. PMID 21996756 DOI: 10.1007/S00439-011-1094-6 |
0.697 |
|
| 2010 |
Noor A, Whibley A, Marshall CR, Gianakopoulos PJ, Piton A, Carson AR, Orlic-Milacic M, Lionel AC, Sato D, Pinto D, Drmic I, Noakes C, Senman L, Zhang X, Mo R, ... ... Maestrini E, et al. Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. Science Translational Medicine. 2: 49ra68. PMID 20844286 DOI: 10.1126/Scitranslmed.3001267 |
0.662 |
|
| 2010 |
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, ... ... Maestrini E, et al. A genome-wide scan for common alleles affecting risk for autism. Human Molecular Genetics. 19: 4072-82. PMID 20663923 DOI: 10.1093/Hmg/Ddq307 |
0.635 |
|
| 2010 |
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, ... ... Maestrini E, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature. 466: 368-72. PMID 20531469 DOI: 10.1038/Nature09146 |
0.661 |
|
| 2010 |
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. Linkage and candidate gene studies of autism spectrum disorders in European populations. European Journal of Human Genetics : Ejhg. 18: 1013-9. PMID 20442744 DOI: 10.1038/Ejhg.2010.69 |
0.677 |
|
| 2010 |
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, ... ... Maestrini E, et al. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. Biological Psychiatry. 68: 320-8. PMID 20346443 DOI: 10.1016/J.Biopsych.2010.02.002 |
0.664 |
|
| 2010 |
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, et al. 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. 15: 954-68. PMID 19401682 DOI: 10.1038/Mp.2009.34 |
0.766 |
|
| 2010 |
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. Corrigendum to: Linkage and candidate gene studies of autism spectrum disorders in European populations European Journal of Human Genetics. 18: 1020-1020. DOI: 10.1038/Ejhg.2010.99 |
0.577 |
|
| 2009 |
Weiss LA, Arking DE, Daly MJ, Chakravarti A, Brune CW, West K, O'Connor A, Hilton G, Tomlinson RL, West AB, Cook EH, Green T, Chang SC, Gabriel S, Gates C, ... ... Maestrini E, et al. A genome-wide linkage and association scan reveals novel loci for autism Nature. 461: 802-808. PMID 19812673 DOI: 10.1038/Nature08490 |
0.612 |
|
| 2009 |
Sykes NH, Toma C, Wilson N, Volpi EV, Sousa I, Pagnamenta AT, Tancredi R, Battaglia A, Maestrini E, Bailey AJ, Monaco AP. Copy number variation and association analysis of SHANK3 as a candidate gene for autism in the IMGSAC collection. European Journal of Human Genetics : Ejhg. 17: 1347-53. PMID 19384346 DOI: 10.1038/Ejhg.2009.47 |
0.769 |
|
| 2009 |
Newbury DF, Warburton PC, Wilson N, Bacchelli E, Carone S, 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. 149: 588-97. PMID 19267418 DOI: 10.1002/Ajmg.A.32704 |
0.641 |
|
| 2009 |
Asher JE, Lamb JA, Brocklebank D, Cazier JB, Maestrini E, Addis L, Sen M, Baron-Cohen S, Monaco AP. A whole-genome scan and fine-mapping linkage study of auditory-visual synesthesia reveals evidence of linkage to chromosomes 2q24, 5q33, 6p12, and 12p12. American Journal of Human Genetics. 84: 279-85. PMID 19200526 DOI: 10.1016/J.Ajhg.2009.01.012 |
0.608 |
|
| 2009 |
Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP. MET and autism susceptibility: family and case-control studies. European Journal of Human Genetics : Ejhg. 17: 749-58. PMID 19002214 DOI: 10.1038/Ejhg.2008.215 |
0.763 |
|
| 2008 |
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, ... ... Maestrini E, et al. Analysis of X chromosome inactivation in autism spectrum disorders. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 830-5. PMID 18361425 DOI: 10.1002/Ajmg.B.30688 |
0.677 |
|
| 2007 |
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. 12: 977-9. PMID 17957233 DOI: 10.1038/Sj.Mp.4002069 |
0.689 |
|
| 2007 |
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, ... ... Maestrini E, et al. Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genetics. 39: 319-28. PMID 17322880 DOI: 10.1038/Ng1985 |
0.756 |
|
| 2006 |
Blasi F, Bacchelli E, Pesaresi G, Carone S, Bailey AJ, 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 : the Official Publication of the International Society of Psychiatric Genetics. 141: 220-1. PMID 16508939 DOI: 10.1002/Ajmg.B.30287 |
0.501 |
|
| 2006 |
Bacchelli E, Maestrini E. Autism spectrum disorders: molecular genetic advances. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 142: 13-23. PMID 16419096 DOI: 10.1002/Ajmg.C.30078 |
0.509 |
|
| 2006 |
Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E. SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample. European Journal of Human Genetics : Ejhg. 14: 123-6. PMID 16205742 DOI: 10.1038/Sj.Ejhg.5201444 |
0.772 |
|
| 2005 |
Lamb JA, Barnby G, Bonora E, Sykes N, Bacchelli E, Blasi F, Maestrini E, Broxholme J, Tzenova J, Weeks D, Bailey AJ, Monaco AP. Analysis of IMGSAC autism susceptibility loci: evidence for sex limited and parent of origin specific effects. Journal of Medical Genetics. 42: 132-7. PMID 15689451 DOI: 10.1136/Jmg.2004.025668 |
0.548 |
|
| 2005 |
Bonora E, Lamb JA, Barnby G, Sykes N, Moberly T, Beyer KS, Klauck SM, Poustka F, Bacchelli E, Blasi F, Maestrini E, Battaglia A, Haracopos D, Pedersen L, Isager T, et al. Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. European Journal of Human Genetics : Ejhg. 13: 198-207. PMID 15523497 DOI: 10.1038/Sj.Ejhg.5201315 |
0.693 |
|
| 2004 |
D'Adamo P, Bacchelli E, Blasi F, Lipp HP, Toniolo D, Maestrini E. DNA variants in the human RAB3A gene are not associated with autism. Genes, Brain, and Behavior. 3: 123-4. PMID 15005721 DOI: 10.1111/J.1601-183X.2003.00058.X |
0.472 |
|
| 2003 |
Bacchelli E, Blasi F, Biondolillo M, Lamb JA, Bonora E, Barnby G, Parr J, Beyer KS, Klauck SM, Poustka A, Bailey AJ, Monaco AP, Maestrini E. Screening of nine candidate genes for autism on chromosome 2q reveals rare nonsynonymous variants in the cAMP-GEFII gene. Molecular Psychiatry. 8: 916-24. PMID 14593429 DOI: 10.1038/Sj.Mp.4001340 |
0.69 |
|
| 2002 |
Beyer KS, Blasi F, Bacchelli E, Klauck SM, Maestrini E, Poustka A. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Human Genetics. 111: 305-9. PMID 12384770 DOI: 10.1007/S00439-002-0786-3 |
0.461 |
|
| 2002 |
Bonora E, Bacchelli E, Levy ER, Blasi F, Marlow A, Monaco AP, Maestrini E. Mutation screening and imprinting analysis of four candidate genes for autism in the 7q32 region. Molecular Psychiatry. 7: 289-301. PMID 11920156 DOI: 10.1038/Sj.Mp.4001004 |
0.66 |
|
| 2001 |
Palferman S, Matthews N, Turner M, Moore J, Hervas A, Aubin A, Wallace S, Michelotti J, Wainhouse C, Paul A, Thompson E, Gupta R, Garner C, Murin M, Freitag C, ... ... Maestrini E, et al. A genomewide screen for autism: strong evidence for linkage to chromosomes 2q, 7q and 16p American Journal of Human Genetics. 69: 570-581. PMID 11481586 DOI: 10.1086/323264 |
0.629 |
|
| 2001 |
Palferman S, Matthews N, Turner M, Moore J, Hervas A, Aubin A, Wallace S, Michelotti J, Wainhouse C, Paul A, Thompson E, Murin M, Gupta R, Garner C, Pickles A, ... ... Maestrini E, et al. Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q Human Molecular Genetics. 10: 973-982. PMID 11392322 DOI: 10.1093/Hmg/10.9.973 |
0.641 |
|
| 2000 |
Maestrini E, Paul A, Monaco AP, Bailey A. Identifying autism susceptibility genes. Neuron. 28: 19-24. PMID 11086979 DOI: 10.1016/S0896-6273(00)00081-7 |
0.686 |
|
| 2000 |
Bailey A, Maestrini E, Paul A, Monaco A. Molecular Genetics of autism: evidence for susceptibility loci European Neuropsychopharmacology. 10: 149-150. DOI: 10.1016/S0924-977X(00)80050-4 |
0.566 |
|
| 1999 |
Maestrini E, Lai C, Marlow A, Matthews N, Wallace S, Bailey A, Cook EH, Weeks DE, Monaco AP. Serotonin transporter (5-HTT) and gamma-aminobutyric acid receptor subunit beta3 (GABRB3) gene polymorphisms are not associated with autism in the IMGSA families. The International Molecular Genetic Study of Autism Consortium. American Journal of Medical Genetics. 88: 492-6. PMID 10490705 DOI: 10.1002/(Sici)1096-8628(19991015)88:5<492::Aid-Ajmg11>3.0.Co;2-X |
0.656 |
|
| 1999 |
Maestrini E, Korge BP, Ocaña-Sierra J, Calzolari E, Cambiaghi S, Scudder PM, Hovnanian A, Monaco AP, Munro CS. A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Human Molecular Genetics. 8: 1237-43. PMID 10369869 DOI: 10.1093/Hmg/8.7.1237 |
0.501 |
|
| 1999 |
Fisher SE, Marlow AJ, Lamb J, Maestrini E, Williams DF, Richardson AJ, Weeks DE, Stein JF, Monaco AP. A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. American Journal of Human Genetics. 64: 146-56. PMID 9915953 DOI: 10.1086/302190 |
0.537 |
|
| 1998 |
Maestrini E, Marlow AJ, Weeks DE, Monaco AP. Molecular genetic investigations of autism. Journal of Autism and Developmental Disorders. 28: 427-37. PMID 9813778 DOI: 10.1023/A:1026056522602 |
0.639 |
|
| 1998 |
Bailey A, Hervas A, Matthews N, Palferman S, Wallace S, Aubin A, Michelotti J, Wainhouse C, Papanikolaou K, Rutter M, Maestrini E, Marlow A, Weeks DE, Lamb J, Francks C, et al. A full genome screen for autism with evidence for linkage to a region on chromosome 7q Human Molecular Genetics. 7: 571-578. PMID 9546821 DOI: 10.1093/Hmg/7.3.571 |
0.608 |
|
| 1996 |
Maestrini E, Monaco AP, McGrath JA, Ishida-Yamamoto A, Camisa C, Hovnanian A, Weeks DE, Lathrop M, Uitto J, Christiano AM. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genetics. 13: 70-7. PMID 8673107 DOI: 10.1038/Ng0596-70 |
0.577 |
|
| 1996 |
Bione S, D'Adamo P, Maestrini E, Gedeon AK, Bolhuis PA, Toniolo D. A novel X-linked gene, G4.5. is responsible for Barth syndrome. Nature Genetics. 12: 385-9. PMID 8630491 DOI: 10.1038/Ng0496-385 |
0.395 |
|
| 1996 |
Maestrini E, Tamagnone L, Longati P, Cremona O, Gulisano M, Bione S, Tamanini F, Neel BG, Toniolo D, Comoglio PM. A family of transmembrane proteins with homology to the MET-hepatocyte growth factor receptor. Proceedings of the National Academy of Sciences of the United States of America. 93: 674-8. PMID 8570614 DOI: 10.1073/Pnas.93.2.674 |
0.403 |
|
| 1995 |
Rivella S, Tamanini F, Bione S, Mancini M, Herman G, Chatterjee A, Maestrini E, Toniolo D. A comparative transcriptional map of a region of 250 kb on the human and mouse X chromosome between the G6PD and the FLN1 genes. Genomics. 28: 377-82. PMID 7490070 DOI: 10.1006/Geno.1995.1164 |
0.429 |
|
| 1994 |
Patrosso MC, Repetto M, Villa A, Milanesi L, Frattini A, Faranda S, Mancini M, Maestrini E, Toniolo D, Vezzoni P. The exon-intron organization of the human X-linked gene (FLN1) encoding actin-binding protein 280. Genomics. 21: 71-6. PMID 8088819 DOI: 10.1006/Geno.1994.1226 |
0.33 |
|
| 1994 |
Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nature Genetics. 8: 323-7. PMID 7894480 DOI: 10.1038/Ng1294-323 |
0.388 |
|
| 1993 |
Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G, Rivella S, Toniolo D. Transcriptional organization of a 450-kb region of the human X chromosome in Xq28. Proceedings of the National Academy of Sciences of the United States of America. 90: 10977-81. PMID 8248200 DOI: 10.1073/Pnas.90.23.10977 |
0.42 |
|
| 1993 |
Maestrini E, Patrosso C, Mancini M, Rivella S, Rocchi M, Repetto M, Villa A, Frattini A, Zoppè M, Vezzoni P. Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Human Molecular Genetics. 2: 761-6. PMID 7689010 DOI: 10.1093/Hmg/2.6.761 |
0.421 |
|
| 1992 |
Tribioli C, Tamanini F, Patrosso C, Milanesi L, Villa A, Pergolizzi R, Maestrini E, Rivella S, Bione S, Mancini M. Methylation and sequence analysis around EagI sites: identification of 28 new CpG islands in XQ24-XQ28. Nucleic Acids Research. 20: 727-33. PMID 1542569 DOI: 10.1093/Nar/20.4.727 |
0.335 |
|
| 1992 |
Maestrini E, Tamanini F, Kioschis P, Gimbo E, Marinelli P, Tribioli C, D'Urso M, Palmieri G, Poustka A, Toniolo D. An archipelago of CpG islands in Xq28: identification and fine mapping of 20 new CpG islands of the human X chromosome. Human Molecular Genetics. 1: 275-80. PMID 1303198 DOI: 10.1093/Hmg/1.4.275 |
0.426 |
|
| 1991 |
Manoni M, Tribioli C, Lazzari B, DeBellis G, Patrosso C, Pergolizzi R, Pellegrini M, Maestrini E, Rivella S, Vezzoni P. The nucleotide sequence of a CpG island demonstrates the presence of the first exon of the gene encoding the human lysosomal membrane protein lamp2 and assigns the gene to Xq24. Genomics. 9: 551-4. PMID 2032724 DOI: 10.1016/0888-7543(91)90424-D |
0.367 |
|
| 1991 |
Franco B, Guioli S, Pragliola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Graziella Persico M, Camerino G, et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature. 353: 529-36. PMID 1922361 DOI: 10.1038/353529A0 |
0.351 |
|
| 1991 |
Rousseau F, Vincent A, Rivella S, Heitz D, Triboli C, Maestrini E, Warren ST, Suthers GK, Goodfellow P, Mandel JL. Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA). American Journal of Human Genetics. 48: 108-16. PMID 1670748 |
0.37 |
|
| 1990 |
Maestrini E, Rivella S, Tribioli C, Purtilo D, Rocchi M, Archidiacono N, Toniolo D. Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28. Genomics. 8: 664-70. PMID 2177445 DOI: 10.1016/0888-7543(90)90253-Q |
0.355 |
|
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