Viggiano M.; Ceroni F.; Visconti P.; Posar A.; Scaduto M.C.; Sandoni L.; Baravelli I.; Cameli C.; Rochat M.J.; Maresca A.; Vaisfeld A.; Gentilini D.; Calzari L.; Carelli V.; Zody M.C.; Maestrini E.; Bacchelli E., Genomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates, «NPJ GENOMIC MEDICINE», 2024, 9, Article number: 21, pp. 1 - 15 [articolo]Open Access
Bacchelli, Elena; Viggiano, Marta; Ceroni1, Fabiola; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Sandoni, Laura; Rochat, Magali J.; Maresca, Alessandra; Vaisfeld, Alessandro; Gentilini, Davide; Calzari, Luciano; Carelli, Valerio; C Zody, Michael; Maestrini, Elena, Genomic analysis of 116 families with Autism Spectrum Disorder: rare de novo and inherited variants further delineate the role of risk genes and highlight new candidates, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2024, 32, pp. 1470 - 1470 [abstract]
Viggiano, Marta; Sandoni, Laura; Ceroni, Fabiola; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Vaisfeld, Alessandro; Bacchelli, Elena; Maestrini, Elena, Investigating the role of rare missense variants in RAB11B in Autism Spectrum Disorder, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2024, 32, pp. 1467 - 1467 [abstract]
Rots, D.; Choufani, S.; Faundes, V.; Dingemans, A. J. M.; Joss, S.; Foulds, N.; Jones, E. A.; Stewart, S.; Vasudevan, P.; Dabir, T.; Park, S. -M.; Jewell, R.; Brown, N.; Pais, L.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C. M. A. V.; Kroes, H. Y.; Stumpel, C. T. R. M.; Ockeloen, C. W.; Diets, I. J.; Nizon, M.; Vincent, M.; Cogne, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E. H.; Mcdougall, C.; Donoghue, S.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G. E.; Vera, M.; Shen, J. J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B. N.; Giltay, J. C.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; de Vries, B. B. A.; Motter, C. S.; Mendelsohn, B. A.; Coffino, S.; Gerkes, E. H.; Afenjar, A.; Visconti, P.; Bacchelli, E.; Maestrini, E.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Adams, H.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M. J.; Rutten, J. W.; Caluseriu, O.; Ve, Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes, «AMERICAN JOURNAL OF HUMAN GENETICS», 2024, 111, pp. 1626 - 1642 [articolo]Open Access
Winsvold, Bendik S; Harder, Aster V E; Ran, Caroline; Chalmer, Mona A; Dalmasso, Maria Carolina; Ferkingstad, Egil; Tripathi, Kumar Parijat; Bacchelli, Elena; Børte, Sigrid; Fourier, Carmen; Petersen, Anja S; Vijfhuizen, Lisanne S; Magnusson, Sigurdur H; O'Connor, Emer; Bjornsdottir, Gyda; Häppölä, Paavo; Wang, Yen-Feng; Callesen, Ida; Kelderman, Tim; Gallardo, Victor J; de Boer, Irene; Olofsgård, Felicia Jennysdotter; Heinze, Katja; Lund, Nunu; Thomas, Laurent F; Hsu, Chia-Lin; Pirinen, Matti; Hautakangas, Heidi; Ribasés, Marta; Guerzoni, Simona; Sivakumar, Prasanth; Yip, Janice; Heinze, Axel; Küçükali, Fahri; Ostrowski, Sisse R; Pedersen, Ole B; Kristoffersen, Espen S; Martinsen, Amy E; Artigas, María S; Lagrata, Susie; Cainazzo, Maria Michela; Adebimpe, Joycee; Quinn, Olivia; Göbel, Carl; Cirkel, Anna; Volk, Alexander E; Heilmann-Heimbach, Stefanie; Skogholt, Anne Heidi; Gabrielsen, Maiken E; Wilbrink, Leopoldine A; Danno, Daisuke; Mehta, Dwij; Guðbjartsson, Daníel F; , Cluster Headache Genomewide Association Study and Meta-Analysis Identifies Eight Loci and Implicates Smoking as Causal Risk Factor, «ANNALS OF NEUROLOGY», 2023, 94, pp. 713 - 726 [articolo]Open Access
Viggiano, Marta; D'Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, Maria Cristina; Colucci, Roberta; Rochat, Magali J.; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena, Contribution of CACNA1H Variants in Autism Spectrum Disorder Susceptibility, «FRONTIERS IN PSYCHIATRY», 2022, 13, Article number: 858238, pp. 1 - 13 [articolo]Open Access
Viggiano, Marta; D’Andrea, Tiziano; Cameli, Cinzia; Posar, Annio; Visconti, Paola; Scaduto, MARIA CRISTINA; Colucci, Roberta; Ceroni, Fabiola; Milazzo, Giorgio; Fucile, Sergio; Maestrini, Elena; Bacchelli, Elena, Contribution of CACNA1H variants in Autism Spectrum Disorder
Susceptibility, in: Poster abstract book, 2022, pp. 1 - 1 (atti di: Neurodevelopmental disorders: from molecular mechanisms to social inclusion, Bordeaux, France, Dal 18 al 20 maggio 2022) [atti di convegno-abstract]
Viggiano, Marta; Cameli, Cinzia; Posar, Annio; Scaduto, Maria C.; Rochat, Magalì; Visconti, Paola; Bacchelli, Elena; Maestrini, Elena, Contribution of compound heterozygous CACNA1H mutations in autism spectrum disorder susceptibility, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2022, 30, pp. 266 - 267 [abstract]Open Access
Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Romagnoli, Martina; Baccari, Flavia; Zenesini, Corrado; Visconti, Paola; Posar, Annio; Scaduto, Maria Cristina; Ormanbekova, Danara; Battaglia, Agatino; Tancredi, Raffaella; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Maestrini, Elena; Rochat, Magali Jane; Bacchelli, Elena; Carelli, Valerio; Maresca, Alessandra, Dissecting the multifaceted contribution of the mitochondrial genome to autism spectrum disorder, «FRONTIERS IN GENETICS», 2022, 13, pp. 01 - 15 [articolo]Open Access
Caporali, Leonardo; Fiorini, Claudio; Palombo, Flavia; Baccari, Flavia; Romagnoli, Martina; Visconti, Paola; Posar, Annio; Scaduto, MARIA CRISTINA; Maestrini, Elena; Cameli, Cinzia; Viggiano, Marta; Olivieri, Anna; Torroni, Antonio; Bacchelli, Elena; Rochat, Magali; Carelli, Valerio; Maresca, Alessandra, Mitochondrial DNA influences the susceptibility to
Autism Spectrum Disorders and the severity of the clinical
phenotype, «EUROPEAN JOURNAL OF HUMAN GENETICS», 2022, 30, Supplement 1, pp. 267 - 267 [abstract]
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, Bacchelli E, Maestrini E., 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», 2021, 25, pp. 2459 - 2470 [articolo]Open Access
Bacchelli, Elena; Cameli, Cinzia; Viggiano, Marta; Igliozzi, Roberta; Mancini, Alice; Tancredi, Raffaella; Battaglia, Agatino; Maestrini, Elena, An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray, «SCIENTIFIC REPORTS», 2020, 10, pp. 3198 - 3210 [articolo]Open Access
Magali Jane Rochat, Giacomo Distefano, Monica Maffei, Francesco Toni, Annio Posar, Maria Cristina Scaduto, Federica Resca, Cinzia Cameli, Elena Bacchelli, Elena Maestrini, Paola Visconti, Brain magnetic resonance findings in 117 children with autism spectrum disorder under 5 years old., «BRAIN SCIENCES», 2020, 10, Article number: 741, pp. 1 - 15 [articolo]Open Access
Loi E.; Moi L.; Blois S.; Bacchelli E.; Vega Benedetti A.F.; 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», 2020, 24, pp. 2064 - 2069 [articolo]Open Access
Lin B.D.; Colas F.; Nijman I.J.; Medic J.; Brands W.; Parr J.R.; van Eijk K.R.; Klauck S.M.; Chiocchetti A.G.; Freitag C.M.; Maestrini E.; Bacchelli E.; Coon H.; Vicente A.; Oliveira G.; Pagnamenta A.T.; Gallagher L.; Ennis S.; Anney R.; Bourgeron T.; Luykx J.J.; Vorstman J., The role of rare compound heterozygous events in autism spectrum disorder, «TRANSLATIONAL PSYCHIATRY», 2020, 10, Article number: 204, pp. 204 - 211 [articolo]Open Access
