Stefano Giuseppe Caraffi

ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 24

Top Venues

Genes

American journal of medical genetics. Part A

European journal of human genetics : EJHG

International journal of molecular sciences

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

Publications

Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. International journal of molecular sciences 25 (2) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Benedetta Cavirani, Carlotta Spagnoli, Stefano Giuseppe Caraffi, Anna Cavalli, Carlo Alberto Cesaroni, Gianni Cutillo, Valentina De Giorgis, Daniele Frattini, Giulia Bruna Marchetti, Silvia Masnada, Angela Peron, Susanna Rizzi, Costanza Varesio, Luigina Spaccini, Aglaia Vignoli, Maria Paola Canevini, Pierangelo Veggiotti, Livia Garavelli, Carlo Fusco
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study. International journal of molecular sciences 25 (2) (2024)
Chiara Brugnoli, Susanna Rizzi, Carlo Alberto Cesaroni, Carlotta Spagnoli, Giovanna Pregnolato, Stefano Giuseppe Caraffi, Manuela Napoli, Rosario Pascarella, Roberta Zuntini, Francesca Peluso, Livia Garavelli, Eleonora Chiarotto, Alberta Leon, Daniele Frattini, Carlo Fusco
Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature. American journal of medical genetics. Part A (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG 32 (6) (2024)
Stefano Giuseppe Caraffi, Liselot van der Laan, Kathleen Rooney, Slavica Trajkova, Roberta Zuntini, Raissa Relator, Sadegheh Haghshenas, Michael A Levy, Chiara Baldo, Giorgia Mandrile, Carolyn Lauzon, Duccio Maria Cordelli, Ivan Ivanovski, Anna Fetta, Elena Sukarova-Angelovska, Alfredo Brusco, Lisa Pavinato, Verdiana Pullano, Marcella Zollino, Haley McConkey, Tartaglia Marco, Giovanni Battista Ferrero, Bekim Sadikovic, Livia Garavelli
Identification of the DNA methylation signature of Mowat-Wilson syndrome. European journal of human genetics : EJHG (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)
Viola Trevisani, Eleonora Balestri, Manuela Napoli, Stefano Giuseppe Caraffi, Maria Chiara Baroni, Francesca Peluso, Colonna Anna, Lorenzo Lughetti, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Diprosopus: A Rare Case of Craniofacial Duplication and a Systematic Review of the Literature. Genes 14 (9) (2023)
Irene Ambrosetti, Laura Bernardini, Marzia Pollazzon, Maria Grazia Giuffrida, Valentina Guida, Francesca Peluso, Maria Chiara Baroni, Valeria Polizzi, Manuela Napoli, Simonetta Rosato, Gabriele Trimarchi, Chiara Gelmini, Stefano Giuseppe Caraffi, Anita Wischmeijer, Daniele Frattini, Antonio Novelli, Livia Garavelli
Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes. Genes 14 (8) (2023)
Stefano Giuseppe Caraffi, Marzia Pollazzon, Muhammad Farooq, Ambrin Fatima, Lars Allan Larsen, Roberta Zuntini, Manuela Napoli, Livia Garavelli
MCPH1: A Novel Case Report and a Review of the Literature. Genes 13 (4) (2022)
Simonetta Rosato, Sheila Unger, Belinda Campos-Xavier, Stefano Giuseppe Caraffi, Laura Beltrami, Marzia Pollazzon, Ivan Ivanovski, Marco Castori, Maria Paola Bonasoni, Giuseppina Comitini, Peter G J Nikkels, Kristin Lindstrom, Christine Umandap, Andrea Superti-Furga, Livia Garavelli
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features. Genes 13 (2) (2022)
Francesca Peluso, Stefano Giuseppe Caraffi, Roberta Zuntini, Gabriele Trimarchi, Ivan Ivanovski, Lara Valeri, Veronica Barbieri, Maria Marinelli, Alessia Pancaldi, Nives Melli, Claudia Cesario, Emanuele Agolini, Elena Cellini, Francesca Clementina Radio, Antonella Crisafi, Manuela Napoli, Renzo Guerrini, Marco Tartaglia, Antonio Novelli, Giancarlo Gargano, Orsetta Zuffardi, Livia Garavelli
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples. Genes 12 (7) (2021)
Marzia Pollazzon, Stefano Giuseppe Caraffi, Silvia Faccioli, Simonetta Rosato, Heidi Fodstad, Belinda Campos-Xavier, Emanuele Soncini, Giuseppina Comitini, Daniele Frattini, Teresa Grimaldi, Maria Marinelli, Davide Martorana, Antonio Percesepe, Silvia Sassi, Carlo Fusco, Giancarlo Gargano, Andrea Superti-Furga, Livia Garavelli
Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes 13 (1) (2021)
Licia Lugli, Marzia Pollazzon, Stefania Bigoni, Stefano Giuseppe Caraffi, Alessandra Ferlini, Lorenzo Ferri, Amelia Morrone, Olga Calabrese, Lorenzo Iughetti, Livia Garavelli, Alberto Berardi
Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG". American journal of medical genetics. Part A (2021)
Gabriele Trimarchi, Stefano Giuseppe Caraffi, Francesca Clementina Radio, Sabina Barresi, Gianluca Contrò, Simone Pizzi, Ilenia Maini, Marzia Pollazzon, Carlo Fusco, Silvia Sassi, Davide Nicoli, Manuela Napoli, Rosario Pascarella, Giancarlo Gargano, Orsetta Zuffardi, Marco Tartaglia, Livia Garavelli
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature. Genes 12 (7) (2021)
Gianluca Contrò, Alessia Micalizzi, Sara Giangiobbe, Stefano Giuseppe Caraffi, Roberta Zuntini, Simonetta Rosato, Marzia Pollazzon, Alessandra Terracciano, Manuela Napoli, Susanna Rizzi, Grazia Gabriella Salerno, Francesca Clementina Radio, Marcello Niceta, Elena Parrini, Carlo Fusco, Giancarlo Gargano, Renzo Guerrini, Tartaglia Marco, Antonio Novelli, Orsetta Zuffardi, Livia Garavelli
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum. Genes 12 (8) (2021)
Katarina Cisarova, Livia Garavelli, Stefano Giuseppe Caraffi, Francesca Peluso, Lara Valeri, Giancarlo Gargano, Sara Gavioli, Gabriele Trimarchi, Alberto Neri, Belinda Campos-Xavier, Andrea Superti-Furga
A monoallelic SEC23A variant E599K associated with cranio-lenticulo-sutural dysplasia. American journal of medical genetics. Part A (2021)
Susanna Rizzi, Carlotta Spagnoli, Grazia Gabriella Salerno, Daniele Frattini, Stefano Giuseppe Caraffi, Gabriele Trimarchi, Claudio Moratti, Rosario Pascarella, Livia Garavelli, Carlo Fusco
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review. American journal of medical genetics. Part A 182 (11) (2020)
Sara Giangiobbe, Stefano Giuseppe Caraffi, Ivan Ivanovski, Ilenia Maini, Marzia Pollazzon, Simonetta Rosato, Gabriele Trimarchi, Anna Lauriello, Maria Marinelli, Davide Nicoli, Chiara Baldo, Steven Laurie, Josue A Flores-Daboub, Aldesia Provenzano, Elena Andreucci, Francesca Peluso, Renata Rizzo, Helen Stewart, Katherine Lachlan, Allan Bayat, Manuela Napoli, Giorgia Carboni, Janice Baker, Alyssa Mendel, Gianluca Piatelli, Chiara Pantaleoni, Teresa Mattina, Paolo Prontera, Nancy J Mendelsohn, Sabrina Giglio, Orsetta Zuffardi, Livia Garavelli
Expanding the phenotype of Wiedemann-Steiner syndrome: Craniovertebral junction anomalies. American journal of medical genetics. Part A 182 (12) (2020)
Ivan Ivanovski, Stefano Giuseppe Caraffi, Elisa Magnani, Simonetta Rosato, Marzia Pollazzon, Leslie Matalonga, Simonetta Piana, Davide Nicoli, Chiara Baldo, Sergio Bernasconi, Andrea Frasoldati, Orsetta Zuffardi, Livia Garavelli
Alazami syndrome: the first case of papillary thyroid carcinoma. Journal of human genetics 65 (2) (2019)
Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Cuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djuric, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Lughetti, Didier Lacombe, Massimo Maggi, Baris Malbora, Isabella Mammi, Sebastien Moutton, Rikke Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, Maria Luisa Poch-Olive, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luis Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B Dobyns, Alex R Paciorkowski
Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genetics in medicine : official journal of the American College of Medical Genetics 19 (6) (2016)

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Publication Activity (10 Years)

Top Topics

Top Venues

Stefano Giuseppe Caraffi