Sabrina Rita Giglio (Sabrina Giglio)

Scopus Author ID ResearcherID Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 18

Top Venues

Molecular genetics & genomic medicine

European journal of human genetics : EJHG

Genes

Human genetics

Università degli Studi di Firenze

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

Affiliation History

Università degli Studi di Firenze Nov 01 2005

Italy

Professore Associato :: Department of Biomedical Experimental and Clinical Sciences "Mario Serio"

Publications

Aldesia Provenzano, Andrea La Barbera, Francesco Lai, Andrea Perra, Antonio Farina, Ettore Cariati, Orsetta Zuffardi, Sabrina Rita Giglio
Non-Invasive Detection of a De Novo Frameshift Variant of STAG2 in a Female Fetus: Escape Genes Influence the Manifestation of X-Linked Diseases in Females. Journal of clinical medicine 11 (14) (2022)
Giada Crescioli, Niccolò Lombardi, Laura Vagnoli, Alessandra Bettiol, Laura Giunti, Valentina Cetica, Maria Luisa Coniglio, Aldesia Provenzano, Sabrina Rita Giglio, Roberto Bonaiuti, Alessandro Mugelli, Maurizio Aricò, Andrea Messeri, Niccolò Lombardi, Valentina Maggini
STOP Pain Project-Opioid Response in Pediatric Cancer Patients and Gene Polymorphisms of Cytokine Pathways. Pharmaceutics 14 (3) (2022)
Aldesia Provenzano, Antonio Farina, Anna Seidenari, Francesco Azzaroli, Carla Serra, Anna Nunzia Della Gatta, Orsetta Zuffardi, Sabrina Rita Giglio
Prenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder. Diagnostics (Basel, Switzerland) 11 (10) (2021)
Francesca Peluso, Viviana Palazzo, Giuseppe Indolfi, Francesco Mari, Roberta Pasqualetti, Elena Procopio, Claudia Nesti, Renzo Guerrini, Filippo Santorelli, Sabrina Rita Giglio
Leopard-like retinopathy and severe early-onset portal hypertension expand the phenotype of KARS1-related syndrome: a case report. BMC medical genomics 14 (1) (2021)
Stefano Nistri, Rosina De Cario, Elena Sticchi, Gaia Spaziani, Matteo Della Monica, Sabrina Rita Giglio, Silvia Favilli, Betti Giusti, Pier Luigi Stefàno, Guglielmina Pepe
Differential Diagnosis between Marfan Syndrome and Loeys-Dietz Syndrome Type 4: A Novel Chromosomal Deletion Covering TGFB2. Genes 12 (10) (2021)
Valentina Bruni, Cristina Barbara Spoleti, Andrea La Barbera, Vincenzo Dattilo, Emma Colao, Carmela Votino, Emanuele Bellacchio, Nicola Perrotti, Sabrina Rita Giglio, Rodolfo Iuliano
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions. Genes 12 (9) (2021)
Sabrina Rita Giglio, Giovanni Montini, Francesco Trepiccione, Giovanni Gambaro, Francesco Emma
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment. Journal of nephrology 34 (6) (2021)
Angelica Pagliazzi, Giorgia Mancano, Giulia Forzano, Fabiana di Giovanni, Giulia Gori, Giovanna Traficante, Achille Iolascon, Sabrina Rita Giglio
Genetic counseling during COVID-19 pandemic: Tuscany experience. Molecular genetics & genomic medicine 8 (10) (2020)
Aldesia Provenzano, Andrea La Barbera, Mirko Scagnet, Angelica Pagliazzi, Giovanna Traficante, Marilena Pantaleo, Lucia Tiberi, Debora Vergani, Nehir Edibe Kurtas, Silvia Guarducci, Sara Bargiacchi, Giulia Forzano, Rosangela Artuso, Viviana Palazzo, Ada Kura, Flavio Giordano, Daniele di Feo, Marzia Mortilla, Claudio De Filippi, Gianluca Mattei, Livia Garavelli, Betti Giusti, Lorenzo Genitori, Orsetta Zuffardi, Sabrina Rita Giglio
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes. Human genetics 140 (4) (2020)
Edoardo Errichiello, Roberto Giorda, Antonella Gambale, Achille Iolascon, Orsetta Zuffardi, Sabrina Rita Giglio
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanism. Molecular genetics & genomic medicine 9 (1) (2020)
Aldesia Provenzano, Viviana Palazzo, Paolo Reho, Angelica Pagliazzi, Annabella Marozza, Antonio Farina, Orsetta Zuffardi, Sabrina Rita Giglio
Noninvasive prenatal diagnosis in a family at risk for Fraser syndrome. Prenatal diagnosis 40 (7) (2020)
Evelise Brizola, Maria Gnoli, Morena Tremosini, Paolo Nucci, Sara Bargiacchi, Andrea La Barbera, Sabrina Rita Giglio, Luca Sangiorgi
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutation. Molecular genetics & genomic medicine 8 (9) (2020)
Elena Cellini, Annalisa Vetro, Valerio Conti, Carla Marini, Viola Doccini, Claudia Clementella, Elena Parrini, Sabrina Rita Giglio, Matteo Della Monica, Marco Fichera, Sebastiano Antonino Musumeci, Renzo Guerrini
Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity. European journal of human genetics : EJHG 27 (6) (2019)
Antonella Gambale, Roberta Russo, Immacolata Andolfo, Lucia Quaglietta, Gianluca De Rosa, Valentina Contestabile, Lucia De Martino, Rita Genesio, Piero Pignataro, Sabrina Rita Giglio, Mario Capasso, Rosanna Parasole, Barbara Pasini, Achille Iolascon
Germline mutations and new copy number variants among 40 pediatric cancer patients suspected for genetic predisposition. Clinical genetics 96 (4) (2019)
Samuela Landini, Benedetta Mazzinghi, Francesca Becherucci, Marco Allinovi, Aldesia Provenzano, Viviana Palazzo, Fiammetta Ravaglia, Rosangela Artuso, Emanuele Bosi, Stefano Stagi, Giulia Sansavini, Francesco Guzzi, Luigi Cirillo, Augusto Vaglio, Luisa Murer, Licia Peruzzi, Andrea Pasini, Marco Materassi, Rosa Maria Roperto, Hans-Johachim Anders, Mario Rotondi, Sabrina Rita Giglio, Paola Romagnani
Reverse Phenotyping after Whole-Exome Sequencing in Steroid-Resistant Nephrotic Syndrome. Clinical journal of the American Society of Nephrology : CJASN 15 (1) (2019)
Maria Clara Bonaglia, Nehir Edibe Kurtas, Edoardo Errichiello, Sara Bertuzzo, Silvana Beri, Mana M Mehrjouy, Aldesia Provenzano, Debora Vergani, Vanna Pecile, Francesca Novara, Paolo Reho, Marilena Carmela Di Giacomo, Giancarlo Discepoli, Roberto Giorda, Micheala A Aldred, Cíntia Barros Santos-Rebouças, Andressa Pereira Goncalves, Diane N Abuelo, Sabrina Rita Giglio, Ivana Ricca, Fabrizia Franchi, Philippos C Patsalis, Carolina Sismani, María Angeles Morí, Julián Nevado, Niels Tommerup, Orsetta Zuffardi
De novo unbalanced translocations have a complex history/aetiology. Human genetics 137 (10) (2018)
Elena Sticchi, Rosina De Cario, Alberto Magi, Sabrina Rita Giglio, Aldesia Provenzano, Stefano Nistri, Guglielmina Pepe, Betti Giusti
Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype. BioMed research international 2018 (2018)
Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Rita Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases. European journal of human genetics : EJHG 25 (6) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Sabrina Rita Giglio (Sabrina Giglio)