Francesco Brancati
Università degli Studi dell'Aquila
H-index: 55
Europe-Italy
Top articles of Francesco Brancati
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome | Proceedings of the National Academy of Sciences | Elise Pisan Chiara De Luca Francesco Brancati Rossana Sanchez Russo Dong Li | 2024/3/19 |
Patient perspective in perceived comparative genetic mutation risk: An exploratory review | Eleonora Cilli Federica Guerra Jessica Ranieri Francesco Brancati Dina Di Giacomo | 2024/2/10 | |
Genetics of familial adult myoclonus epilepsy: from linkage studies to noncoding repeat expansions | Mark A Corbett Christel Depienne Liana Veneziano Karl Martin Klein Francesco Brancati | 2023/6 | |
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome | European Journal of Human Genetics | Paola Fortugno Rosanna Monetta Valeria Cinquina Chiara Rigon Francesca Boaretto | 2023/5 |
Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses | Human Reproduction | S Caroselli M Figliuzzi L Picchetta F Cogo P Zambon | 2023/4/1 |
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type. | European Journal of Paediatric Dentistry | V Quinzi C De Luca F Giovannetti A Splendiani D Cocciadiferro | 2023/12/1 |
BRCA genetic result disclosure for women with Breast Cancer: influence of+/-predisposition genetic mutation | Mediterranean Journal of Clinical Psychology | Jessica Ranieri Federica Guerra Eleonora Cilli Francesco Brancati Dina Di Giacomo | 2023/8/31 |
Corrigendum to “Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology”[International Journal of Cardiology … | International Journal of Cardiology | Silvia Castelletti Alessandro Zorzi Enrico Ballardini Cristina Basso Alessandro Biffi | 2023/1/1 |
2p25.3 microduplications involving MYT1L: further phenotypic characterization through an assessment of 16 new cases and a literature review | Malek Bouassida Matthieu Egloff Jonathan Levy Nicolas Chatron Laura Bernardini | 2023/8 | |
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay | Human Genetics and Genomics Advances | Dianne Laboy Cintron Alison M Muir Abbey Scott Marie McDonald Kristin G Monaghan | 2022/1/13 |
204-LB: An Unusual Case of Autoantibody-Negative Ketosis-Prone Diabetes (KPD) Secondary to Marked Insulin Resistance | Diabetes | Marco Infante Pasquale Diperna Marina Passeri Rosanna Monetta Franco Papola | 2022/6/1 |
Molecular genetic testing in athletes: Why and when a position statement from the Italian Society of Sports Cardiology | Silvia Castelletti Alessandro Zorzi Enrico Ballardini Cristina Basso Alessandro Biffi | 2022/10/1 | |
ARTICLE De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway | Maria Asif Emrah Kaygusuz Marwan Shinawi Anna Nickelsen Tzung-Chien Hsieh | 2022 | |
Molecular and functional studies of novel genetic variants of TP63 an SAMD11 genes unravel their potential role in the pathogenesis of primary ovarian insufficiency | Endocrine Abstracts | Raffaella Rossetti Silvia Moleri Fabiana Guizzardi Marco Bonomi Anna Marozzi | 2022/5/7 |
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease | Genetics in Medicine | Elisa Calì Sheng-Jia Lin Clarissa Rocca Yavuz Sahin Aisha Al Shamsi | 2022/10/1 |
Genome-wide DNA methylation analysis of a cohort of 41 patients affected by Oculo-Auriculo-Vertebral Spectrumpatients affected by Oculo-Auriculo-Vertebral Spectrum (OAVS) | International Journal of Molecular Sciences | Valentina Guida Luciano Calzari Maria Teresa Fadda Francesca Piceci-Sparascio Maria Cristina Digilio | 2021/1/26 |
Atypical Progeroid Syndrome with Familial Partial Lipodystrophy due to a Missense c. 1045 C> T LMNA Mutation: A Case Report and an Innovative Therapeutic Approach | Archives of Clinical and Medical Case Reports | Benedetta Russo Marika Menduni Andrea Mari Caterina Pelosini Francesco Brancati | 2022 |
RIPK4 regulates cell–cell adhesion in epidermal development and homeostasis | Human Molecular Genetics | Paola Fortugno Rosanna Monetta Manuel Belli Elisabetta Botti Francesco Angelucci | 2022/8/1 |
Mutations in PYCR1 cause cutis laxa with progeroid features (vol 41, pg 1016, 2009) | Nature genetics | Bruno Reversade Nathalie Escande-Beillard Aikaterini Dimopoulou Björn Fischer Serene C Chng | 2009/8/2 |
De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway | Human Genetics and Genomics Advances | Maria Asif Emrah Kaygusuz Marwan Shinawi Anna Nickelsen Tzung-Chien Hsieh | 2022/7/14 |
