Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report

by Rossi, Jessica, Russo, Marco, Gobbi, Giuseppe, Terracciano, Alessandra, Zuntini, Roberta, Giuseppe Caraffi, Stefano, Novelli, Antonio, Garavelli, Livia, Valzania, Franco, Rizzi, Romana
Published in Brain & development (Tokyo. 1979)

Heterozygous truncating variant of TAOK1 in a boy with periventricular nodular heterotopia: a case report and literature review of TAOK1-related neurodevelopmental disorders

by Cavalli, Anna, Caraffi, Stefano Giuseppe, Rizzi, Susanna, Trimarchi, Gabriele, Napoli, Manuela, Frattini, Daniele, Spagnoli, Carlotta, Garavelli, Livia, Fusco, Carlo
Published in BMC medical genomics

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

by Cavirani, Benedetta, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Cavalli, Anna, Cesaroni, Carlo Alberto, Cutillo, Gianni, De Giorgis, Valentina, Frattini, Daniele, Marchetti, Giulia Bruna, Masnada, Silvia, Peron, Angela, Rizzi, Susanna, Varesio, Costanza, Spaccini, Luigina, Vignoli, Aglaia, Canevini, Maria Paola, Veggiotti, Pierangelo, Garavelli, Livia, Fusco, Carlo
Published in International journal of molecular sciences

Alazami syndrome: the first case of papillary thyroid carcinoma

by Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Magnani, Elisa, Rosato, Simonetta, Pollazzon, Marzia, Matalonga, Leslie, Piana, Simonetta, Nicoli, Davide, Baldo, Chiara, Bernasconi, Sergio, Frasoldati, Andrea, Zuffardi, Orsetta, Garavelli, Livia
Published in Journal of human genetics

Case Report: Sequential postzygotic HRAS mutation and gains of the paternal chromosome 11 carrying the mutated allele in a patient with epidermal nevus and rhabdomyosarcoma: eviden...

by Zuntini, Roberta, Cattani, Chiara, Pedace, Lucia, Miele, Evelina, Caraffi, Stefano Giuseppe, Gardini, Stefano, Ficarelli, Elena, Pizzi, Simone, Radio, Francesca Clementina, Barone, Angelica, Piana, Simonetta, Bertolini, Patrizia, Corradi, Domenico, Marinelli, Maria, Longo, Caterina, Motolese, Alberico, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Published in Frontiers in genetics

MCPH1: A Novel Case Report and a Review of the Literature

by Caraffi, Stefano Giuseppe, Pollazzon, Marzia, Farooq, Muhammad, Fatima, Ambrin, Larsen, Lars Allan, Zuntini, Roberta, Napoli, Manuela, Garavelli, Livia
Published in Genes

Case report: Expanding the phenotype of FOXP1 -related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

by Cesaroni, Carlo Alberto, Pollazzon, Marzia, Mancini, Cecilia, Rizzi, Susanna, Cappelletti, Camilla, Pizzi, Simone, Frattini, Daniele, Spagnoli, Carlotta, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Niceta, Marcello, Radio, Francesca Clementina, Tartaglia, Marco, Garavelli, Livia, Fusco, Carlo
Published in Frontiers in neurology

Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature

by Trevisani, Viola, Balestri, Eleonora, Napoli, Manuela, Caraffi, Stefano Giuseppe, Baroni, Maria Chiara, Peluso, Francesca, Colonna, Anna, Iughetti, Lorenzo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Published in Genes

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

by Ambrosetti, Irene, Bernardini, Laura, Pollazzon, Marzia, Giuffrida, Maria Grazia, Guida, Valentina, Peluso, Francesca, Baroni, Maria Chiara, Polizzi, Valeria, Napoli, Manuela, Rosato, Simonetta, Trimarchi, Gabriele, Gelmini, Chiara, Caraffi, Stefano Giuseppe, Wischmeijer, Anita, Frattini, Daniele, Novelli, Antonio, Garavelli, Livia
Published in Genes

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

by Pollazzon, Marzia, Caraffi, Stefano Giuseppe, Faccioli, Silvia, Rosato, Simonetta, Fodstad, Heidi, Campos-Xavier, Belinda, Soncini, Emanuele, Comitini, Giuseppina, Frattini, Daniele, Grimaldi, Teresa, Marinelli, Maria, Martorana, Davide, Percesepe, Antonio, Sassi, Silvia, Fusco, Carlo, Gargano, Giancarlo, Superti-Furga, Andrea, Garavelli, Livia
Published in Genes

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features

by Rosato, Simonetta, Unger, Sheila, Campos-Xavier, Belinda, Caraffi, Stefano Giuseppe, Beltrami, Laura, Pollazzon, Marzia, Ivanovski, Ivan, Castori, Marco, Bonasoni, Maria Paola, Comitini, Giuseppina, Nikkels, Peter G J, Lindstrom, Kristin, Umandap, Christine, Superti-Furga, Andrea, Garavelli, Livia
Published in Genes

Prenatal Clinical Findings in RASA1 -Related Capillary Malformation-Arteriovenous Malformation Syndrome

by Coccia, Emanuele, Valeri, Lara, Zuntini, Roberta, Caraffi, Stefano Giuseppe, Peluso, Francesca, Pagliai, Luca, Vezzani, Antonietta, Pietrangiolillo, Zaira, Leo, Francesco, Melli, Nives, Fiorini, Valentina, Greco, Andrea, Lepri, Francesca Romana, Pisaneschi, Elisa, Marozza, Annabella, Carli, Diana, Mussa, Alessandro, Radio, Francesca Clementina, Conti, Beatrice, Iascone, Maria, Gargano, Giancarlo, Novelli, Antonio, Tartaglia, Marco, Zuffardi, Orsetta, Bedeschi, Maria Francesca, Garavelli, Livia
Published in Genes

Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature

by Trimarchi, Gabriele, Caraffi, Stefano Giuseppe, Radio, Francesca Clementina, Barresi, Sabina, Contrò, Gianluca, Pizzi, Simone, Maini, Ilenia, Pollazzon, Marzia, Fusco, Carlo, Sassi, Silvia, Nicoli, Davide, Napoli, Manuela, Pascarella, Rosario, Gargano, Giancarlo, Zuffardi, Orsetta, Tartaglia, Marco, Garavelli, Livia
Published in Genes

The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects

by Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea
Published in Molecular genetics and metabolism reports

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)- B4GALT7 and Spondylodysplastic-EDS- B3GALT6

by Caraffi, Stefano Giuseppe, Maini, Ilenia, Ivanovski, Ivan, Pollazzon, Marzia, Giangiobbe, Sara, Valli, Maurizia, Rossi, Antonio, Sassi, Silvia, Faccioli, Silvia, Rocco, Maja Di, Magnani, Cinzia, Campos-Xavier, Belinda, Unger, Sheila, Superti-Furga, Andrea, Garavelli, Livia
Published in Genes

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

by Contrò, Gianluca, Micalizzi, Alessia, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Rosato, Simonetta, Pollazzon, Marzia, Terracciano, Alessandra, Napoli, Manuela, Rizzi, Susanna, Salerno, Grazia Gabriella, Radio, Francesca Clementina, Niceta, Marcello, Parrini, Elena, Fusco, Carlo, Gargano, Giancarlo, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Zuffardi, Orsetta, Garavelli, Livia
Published in Genes

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples

by Peluso, Francesca, Caraffi, Stefano Giuseppe, Zuntini, Roberta, Trimarchi, Gabriele, Ivanovski, Ivan, Valeri, Lara, Barbieri, Veronica, Marinelli, Maria, Pancaldi, Alessia, Melli, Nives, Cesario, Claudia, Agolini, Emanuele, Cellini, Elena, Radio, Francesca Clementina, Crisafi, Antonella, Napoli, Manuela, Guerrini, Renzo, Tartaglia, Marco, Novelli, Antonio, Gargano, Giancarlo, Zuffardi, Orsetta, Garavelli, Livia
Published in Genes

ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection

by Thomas, Ajay X., Link, Nichole, Robak, Laurie A., Demmler‐Harrison, Gail, Pao, Emily C., Squire, Audrey E., Michels, Savannah, Cohen, Julie S., Comi, Anne, Prontera, Paolo, Verrotti di Pianella, Alberto, Di Cara, Giuseppe, Garavelli, Livia, Caraffi, Stefano Giuseppe, Fusco, Carlo, Zuntini, Roberta, Parks, Kendall C., Sherr, Elliott H., Hashem, Mais O., Maddirevula, Sateesh, Alkuraya, Fowzan S., Contractar, Isphana A. F., Neil, Jennifer E., Walsh, Christopher A., Bellen, Hugo J., Chao, Hsiao‐Tuan, Clark, Robin D., Mirzaa, Ghayda M.
Published in Annals of clinical and translational neurology

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy

by Spagnoli, Carlotta, Soliani, Luca, Caraffi, Stefano Giuseppe, Baga, Margherita, Rizzi, Susanna, Salerno, Grazia Gabriella, Frattini, Daniele, Garavelli, Livia, Koskenvuo, Juha, Pisani, Francesco, Fusco, Carlo
Published in Parkinsonism & related disorders

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

by Ivanovski, Ivan, Djuric, Olivera, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Rosato, Simonetta, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P, Ajmone, Paola Francesca, Badura-Stronka, Magdalena, Baldo, Chiara, Baldi, Maddalena, Bayat, Allan, Bigoni, Stefania, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, De Brasi, Daniele, Devriendt, Koenraad, Dinulos, Mary Beth, Hjortshøj, Tina Duelund, Epifanio, Roberta, Faravelli, Francesca, Fiumara, Agata, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Kuburovic, Vladimir, Kutkowska-Kazmierczak, Anna, Lacombe, Didier, Lo Rizzo, Caterina, Luchetti, Anna, Malbora, Baris, Mammi, Isabella, Mari, Francesca, Montorsi, Giulia, Moutton, Sebastien, Møller, Rikke S, Muschke, Petra, Nielsen, Jens Erik Klint, Obersztyn, Ewa, Pantaleoni, Chiara, Pellicciari, Alessandro, Pisanti, Maria Antonietta, Prpic, Igor, Poch-Olive, Maria Luisa, Raviglione, Federico, Renieri, Alessandra, Ricci, Emilia, Rivieri, Francesca, Santen, Gijs W, Savasta, Salvatore, Scarano, Gioacchino, Schanze, Ina, Selicorni, Angelo, Silengo, Margherita, Smigiel, Robert, Spaccini, Luigina, Sorge, Giovanni, Szczaluba, Krzysztof, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zenker, Martin, Conidi, Andrea, Zollino, Marcella, Rauch, Anita, Zweier, Christiane, Garavelli, Livia
Published in Genetics in medicine