Lorenzo Sinibaldi

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 22

Top Venues

European journal of human genetics : EJHG

Genes

Diagnostics (Basel, Switzerland)

International journal of molecular sciences

Ospedale Pediatrico Bambino Gesù

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

Affiliation History

Ospedale Pediatrico Bambino Gesù Feb 19 2018

Italy

MD, PhD :: Medical Genetics

Publications

Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Giulio Calcagni, Federica Ferrigno, Alessio Franceschini, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Chiara Minotti, Alessia Micalizzi, Viola Alesi, Antonio Novelli, Anwar Baban, Giovanni Parlapiano, Domenico A Coviello, Paolo Versacci, Carolina Putotto, Marcello Chinali, Fabrizio Drago, Andrea Bartuli, Bruno Marino, Maria Cristina Digilio
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome. Diagnostics (Basel, Switzerland) 14 (6) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo, Giacomo Garone, Michaela Veronika Gonfiantini, Davide Vecchio, Lorenzo Sinibaldi, Flaminia Frascarelli, Viola Ceccatelli, Sara Petrillo, Fiorella Piemonte, Gabriele Piccolo, Antonio Novelli, Daniela Longo, Stefano Pro, Adele D'Amico, Enrico Silvio Bertini, Francesco Nicita
Spectrum of ERCC6 -Related Cockayne Syndrome (Type B): From Mild to Severe Forms. Genes 15 (4) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovesea, Giorgia Catino, Valerio Mei, Daniele Pompili, Ester Sallicandro, Roberto Falasca, Maria Teresa Liambo, Maria Vittoria Faggiano, Maria Cristina Roberti, Maddalena Di Donato, Anna Vitelli, Serena Russo, Rosalinda Giannini, Alessia Micalizzi, Nicola Pietrafusa, Maria Cristina Digilio, Antonio Novelli, Lucia Fusco, Viola Alesi
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism. International journal of molecular sciences 25 (13) (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG (2024)
Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri, Cecilia Mancini, Manuela Priolo, Adeline Alice Bonnard, Camilla Cappelletti, Chiara Leoni, Andrea Ciolfi, Simone Pizzi, Viviana Cordeddu, Cesare Rossi, Marco Ferilli, Mafalda Mucciolo, Vito Luigi Colona, Christine Fauth, Melissa Bellini, Giacomo Biasucci, Lorenzo Sinibaldi, Silvana Briuglia, Andrea Gazzin, Diana Carli, Luigi Memo, Eva Trevisson, Concetta Schiavariello, Maria Luca, Antonio Novelli, Caroline Michot, Anne Sweertvaegher, David Germanaud, Emanuela Scarano, Alessandro De Luca, Giuseppe Zampino, Martin Zenker, Alessandro Mussa, Bruno Dallapiccola, Hélène Cave, Maria Cristina Digilio, Tartaglia Marco
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. European journal of human genetics : EJHG 32 (8) (2024)
Lorenzo Sinibaldi, Giacomo Garone, Alessandra Mandarino, Giancarlo Iarossi, Laura Chioma, Maria Lisa Dentici, Giuseppe Merla, Emanuele Agolini, Alessia Micalizzi, Cecilia Mancini, Marcello Niceta, Marina Macchiaiolo, Daria Diodato, Roberta Onesimo, Rita Blandino, Angelica Bibiana Delogu, Gabriella De Rosa, Valentina Trevisan, Mariella Iademarco, Giuseppe Zampino, Tartaglia Marco, Antonio Novelli, Andrea Bartuli, Maria Christina Digilio, Giulio Calcagni
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness. Clinical genetics (2023)
Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan, Chiara Leoni, Valentina Giorgio, Donato Rigante, Eliza Maria Kuczynska, Francesco Proli, Cristiana Agazzi, Domenico Limongelli, Maria Cistina Digilio, Maria Lisa Dentici, Maria Macchiaiolo, Antonio Novelli, Andrea Bartuli, Lorenzo Sinibaldi, Tartaglia Marco, Giuseppe Zampino
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome. Genes 14 (10) (2023)
Giancarlo Iarossi, Lorenzo Sinibaldi, Chiara Passarelli, Andrea Maria Coppe', Alessandro Cappelli, Gianni Petrocelli, Gino Catena, Chiara Perrone, Benedetto Falsini, Antonio Novelli, Andrea Bartuli, Buzzonetti Luca
A Novel Autosomal Recessive Variant of the NRL Gene Causing Enhanced S-Cone Syndrome: A Morpho-Functional Analysis of Two Unrelated Pediatric Patients. Diagnostics (Basel, Switzerland) 12 (9) (2022)
Lorenzo Sinibaldi, Alessia Micalizzi, Annalisa Serra, Alessandro Crocoli, Francesca Diomedi Camassei, Domenico Barbuti, Maria Lisa Dentici, Alessandra Terracciano, Matteo Mattiuzzo, Antonio Novelli, Maria Cristina Digilio
Osteopathia striata with cranial sclerosis: a new case supporting the link with bilateral Wilms tumor. European journal of human genetics : EJHG 30 (3) (2022)
Giacomo Cinnirella, Rachel L Taylor, Claudio Coco, Francesca Piludu, Antonello Vidiri, Lorenzo Sinibaldi, Uwe Kornak, Graeme Black, Francesco Brancati
Craniosynostosis-microphthalmia syndrome belongs to the spectrum of BCOR-related disorders. Clinical genetics 98 (4) (2020)
Paolo Alfieri, Francesco Scibelli, Lorenzo Sinibaldi, Giovanni Valeri, Cristina Caciolo, Roberta Lucia Novello, Antonio Novelli, Maria Cristina Digilio, Marco Tartaglia, Stefano Vicari
Further insight into the neurobehavioral pattern of children carrying the 2p16.3 heterozygous deletion involving NRXN1: Report of five new cases. Genes, brain, and behavior 19 (7) (2020)
Lorenzo Sinibaldi, Valentina Parisi, Silvia Lanciotti, Paolo Fontana, Alma Kuechler, Genevieve Baujat, Barbara Torres, Judith Koetting, Alessandra Splendiani, Diana Postorivo, Jasmin Beygo, Francesco G Garaci, Valerie Malan, Hermann-Josef Lüdecke, Valentina Guida, Mandy Krumbiegel, Fortunato Lonardo, Antonio Novelli, Beate Albrecht, Chiara Perria, Gioacchino Scarano, Malte Spielmann, Annamaria M Nardone, Agatino Battaglia, Francesco Brancati, Laura Bernardini
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes. Clinical genetics 96 (3) (2019)

Lorenzo Sinibaldi.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Lorenzo Sinibaldi