Maria Francesca Bedeschi (M F Bedeschi)

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 24

Top Topics

Autism Spectrum Disorder

Genome Wide Association

Top Venues

Journal of the American Heart Association

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

American journal of medical genetics. Part A

This page only lists publications with an associated author ORCID identifier.

Publications

Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Cliffton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 13 (3) (2024)
Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Cliffton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association (2024)
Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Cliffton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 13 (3) (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics (2024)
Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Cliffton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 13 (3) (2024)
Francesca Cogliati, Letizia Straniero, Valeria Rimoldi, Maura Masciadri, Sara Perego, Berardo Rinaldi, Donatella Milani, Davide Gentilini, Lidia Larizza, Rosanna Asselta, Silvia Russo, Maria Francesca Bedeschi
Low-grade parental gonosomal mosaicism in CHD2 siblings with Smith-Magenis-like syndrome. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 195 (6) (2024)
Giada Moresco, Maria Francesca Bedeschi, Marco Venturin, Roberta Villa, Jole Costanza, Alessia Mauri, Carlo Santaniello, Odoardo Picciolini, Laura Messina, Fabio Triulzi, Monica Rosa Miozzo, Ornella Rondinone, Laura Fontana
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing. Genes 15 (8) (2024)
Giada Moresco, Maria Francesca Bedeschi, Marco Venturin, Roberta Villa, Jole Costanza, Alessia Mauri, Carlo Santaniello, Odoardo Picciolini, Laura Messina, Fabio Triulzi, Monica Rosa Miozzo, Ornella Rondinone, Laura Fontana
Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing. Genes 15 (8) (2024)
Delong Liu, Charles J Billington, Neelam Raja, Zoe C Wong, Mark D Levin, Wulfgang Resch, Camille Alba, Daniel N Hupalo, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Pheobe C R Parrish, Russell H Knutsen, Sharon Osgood, Joy A Freeman, Cliffton L Dalgard, Giuseppe Merla, Barbara R Pober, Carolyn B Mervis, Amy E Roberts, Colleen A Morris, Lucy R Osborne, Beth A Kozel
Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome. Journal of the American Heart Association 13 (3) (2024)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Emanuele Coccia, Lara Valeri, Roberta Zuntini, Stefano Giuseppe Caraffi, Francesca Peluso, Luca Pagliai, Antonietta Vezzani, Zaira Pietrangiolillo, Francesco Leo, Nives Melli, Valentina Fiorini, Andrea Greco, Francesca Romana Lepri, Elisa Pisaneschi, Annabella Marozza, Diana Carli, Alessandro Mussa, Francesca Clementina Radio, Beatrice Conti, Maria Iascone, Giancarlo Gargano, Antonio Novelli, Tartaglia Marco, Orsetta Zuffardi, Maria Francesca Bedeschi, Livia Garavelli
Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome. Genes 14 (3) (2023)
Maria Francesca Bedeschi, Stefano Mora, Franco Antoniazzi, Silvio Boero, Roberto Ravasio, Gioacchino Scarano, Angelo Selicorni, M Sessa, F Verdoni, Giuseppe Zampino, Mohamad Maghnie, null null
The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys. Journal of endocrinological investigation (2023)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti-Furga, Livia Garavelli, Edoardo Errichiello
Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3. Clinical genetics (2023)
Beatrice Conti, Berardo Rinaldi, Martina Rimoldi, Roberta Villa, Maria Iascone, Silvana Gangi, Matteo Porro, Paola Francesca Ajmone, Anna Maria Colli, Fabio Mosca, Maria Francesca Bedeschi
Chung-Jansen syndrome can mimic Cornelia de Lange syndrome: Another player among chromatinopathies? American journal of medical genetics. Part A (2023)
Erica Rosina, Lidia Pezzani, Erika Apuril, Laura Pezzoli, Daniela Marchetti, Matteo Bellini, Camilla Lucca, Camilla Meossi, Marta Massimello, Milena Mariani, Agnese Scatigno, Elisa Cattaneo, Lorenzo Colombo, Silvia Maitz, Anna Cereda, Donatella Milani, Luigina Spaccini, Maria Francesca Bedeschi, Angelo Selicorni, Maria Iascone
Comparison of first-tier whole-exome sequencing with a multi-step traditional approach for diagnosing paediatric outpatients: An Italian prospective study. Molecular genetics & genomic medicine (2023)
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales, Roberta Villa, Nicoletta Resta, Daria Carmela Loconte, Simona Boito, Luca Caschera, Laura Bassi, Lorenzo Colombo, Maria Iascone, Maria Francesca Bedeschi
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? Clinical case reports 10 (8) (2022)
Berardo Rinaldi, Roberta Villa, Alessandra Sironi, Livia Garavelli, Palma Finelli, Maria Francesca Bedeschi
Smith-Magenis Syndrome-Clinical Review, Biological Background and Related Disorders. Genes 13 (2) (2022)
Marco Ferilli, Andrea Ciolfi, Lucia Pedace, Marcello Niceta, Francesca Clementina Radio, Simone Pizzi, Evelina Miele, Camilla Cappelletti, Cecilia Mancini, Tiziana Galluccio, Marco Andreani, Maria Iascone, Luigi Chiriatti, Antonio Novelli, Alessia Micalizzi, Marta Matraxia, Lucia Menale, Flavio Faletra, Paolo Prontera, Alba Pilotta, Maria Francesca Bedeschi, Rossella Capolino, Anwar Baban, Marco Seri, Corrado Mammì, Giuseppe Zampino, Maria Cristina Digilio, Bruno Dallapiccola, Manuela Priolo, Tartaglia Marco
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants. Genes 13 (11) (2022)
Alessandra Consales, Giulia Ardemani, Claudia Maria Cinnante, Mariana Rita Catalano, Claudia Giavoli, Roberta Villa, Maria Iascone, Camilla Fontana, Maria Francesca Bedeschi, Monica Fumagalli
Neuroimaging appearance of hypothalamic hamartomas in monozygotic twins with Pallister-Hall syndrome: case report and review of the literature. BMC neurology 22 (1) (2022)
Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli
Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome. International journal of molecular sciences 23 (11) (2022)
Laura Pezzoli, Lidia Pezzani, Ezio Bonanomi, Chiara Marrone, Agnese Scatigno, Anna Cereda, Maria Francesca Bedeschi, Angelo Selicorni, Serena Gasperini, Paolo Bini, Silvia Maitz, Carla Maccioni, Cristina Pedron, Lorenzo Colombo, Daniela Marchetti, Matteo Bellini, Anna Rita Lincesso, Loredana Perego, Monica Pingue, Nunzia Della Malva, Giovanna Mangili, Paolo Ferrazzi, Maria Iascone
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management. Journal of cardiovascular development and disease 9 (1) (2021)
Lucia Micale, Silvia Morlino, Annalisa Schirizzi, Emanuele Agolini, Grazia Nardella, Carmela Fusco, Stefano Castellana, Vito Guarnieri, Roberta Villa, Maria Francesca Bedeschi, Paola Grammatico, Antonio Novelli, Marco Castori
Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia. Genes 11 (12) (2020)