Alessandro De Luca

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 42

Top Venues

European journal of human genetics : EJHG

American journal of medical genetics. Part A

Human mutation

Diagnostics (Basel, Switzerland)

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

Publications

Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Frustaci, Alessandro De Luca, Romina Verardo, Valentina Guida, Maria Alfarano, Camilla Calvieri, Luigi Sansone, Matteo Antonio Russo, Cristina Chimenti
Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease. Biomedicines 12 (5) (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)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG (2024)
Andrea Frustaci, Alessandro De Luca, Romina Verardo, Valentina Guida, Maria Alfarano, Camilla Calvieri, Luigi Sansone, Matteo Antonio Russo, Cristina Chimenti
Novel ATP2A2 Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease. Biomedicines 12 (5) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (2024)
Andrea Gazzin, Federico Fornari, Marcello Niceta, Chiara Leoni, Maria Lisa Dentici, Diana Carli, Anna Maria Villar, Giulio Calcagni, Elena Banaudi, Stefania Massuras, Simona Cardaropoli, Elena Airulo, Paola Daniele, Emanuele Monda, Giuseppe Limongelli, Chiara Riggi, Giuseppe Zampino, Maria Cristina Digilio, Alessandro De Luca, Tartaglia Marco, Giovanbattista Giovanni Battista Ferrero, Alessandro Mussa
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant. European journal of human genetics : EJHG 32 (8) (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)
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)
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)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Andrea Frustaci, Rosario Cianci, Romina Verardo, Bruna Cerbelli, Maria Cecilia D'Asdia, Alessandro De Luca
Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation. Journal of clinical medicine 12 (22) (2023)
Francesca Piceci-Sparascio, Lucia Micale, Barbara Torres, Valentina Guida, Federica Consoli, Isabella Torrente, Annamaria Onori, Emanuela Frustaci, Maria Cecilia D'Asdia, Francesco Petrizzelli, Laura Bernardini, Cecilia Mancini, Fiorenza Soli, Dario Cocciadiferro, Daniele Guadagnolo, Gioia Mastromoro, Carolina Putotto, Franco Fontana, Nicola Brunetti-Pierri, Antonio Novelli, Antonio Pizzuti, Bruno Marino, Maria Cristina Digilio, Tommaso Mazza, Bruno Dallapiccola, Victor Luis Ruiz-Perez, Tartaglia Marco, Marco Castori, Alessandro De Luca
Clinical variability in DYNC2H1-related skeletal ciliopathies includes Ellis-van Creveld syndrome. European journal of human genetics : EJHG (2023)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Lucrezia Perri, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (2023)
Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Tommaso Verdolotti, Tommaso Biagini, Tommaso Mazza, Alessandro De Luca, Perri Lucrezia, Valentina Trevisan, Elisabetta Flex, Tartaglia Marco, Giuseppe Zampino
Further case of enlarged spinal nerve roots in KRAS-related Noonan syndrome. Clinical genetics (2023)
Ke Mao, Christelle Borel, Muhammad Ansar, Angad Jolly, Periklis Makrythanasis, Christine Froehlich, Justyna Iwaszkiewicz, Bingqing Wang, Xiaopeng Xu, Qiang Li, Xavier Blanc, Hao Zhu, Qi Chen, Fujun Jin, Harinarayana Ankamreddy, Sunita Singh, Hongyuan Zhang, Xiaogang Wang, Peiwei Chen, Emmanuelle Ranza, Sohail Aziz Paracha, Syed Fahim Shah, Valentina Guida, Francesca Piceci-Sparascio, Daniela Melis, Bruno Dallapiccola, Maria Cristina Digilio, Antonio Novelli, Monia Magliozzi, Maria Teresa Fadda, Haley Streff, Keren Machol, Richard Alan Lewis, Vincent Zoete, Gabriella Maria Squeo, Paolo Prontera, Giorgia Mancano, Giulia Gori, Milena Mariani, Angelo Selicorni, Stavroula Psoni, Helen Fryssira, Sofia Douzgou Houge, Sandrine Marlin, Saskia Biskup, Alessandro De Luca, Giuseppe Merla, Shouqin Zhao, Timothy C Cox, Andrew K Groves, James R. Lupski, Qingguo Zhang, Yong-Biao Zhang, Stylianos E Antonarakis
FOXI3 pathogenic variants cause one form of craniofacial microsomia. Nature communications 14 (1) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A 191 (4) (2023)
Gioia Mastromoro, Daniele Guadagnolo, Enrica Marchionni, Barbara Torres, Marina Goldoni, Annamaria Onori, Laura Bernardini, Alessandro De Luca, Isabella Torrente, Antonio Pizzuti
Mosaic genome-wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. American journal of medical genetics. Part A (2023)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Federica Graziola, Sabrina Maffi, Melissa Grasso, Giacomo Garone, Simone Migliore, Eugenia Scaricamazza, Consuelo Ceccarelli, Melissa Casella, Ludovica Busi, Barbara D'Alessio, Alessandro De Luca, Giovanna Stefania Colafati, Umberto Sabatini, Alessandro Capuano, Ferdinando Squitieri
"Spazio Huntington": Tracing the Early Motor, Cognitive and Behavioral Profiles of Kids with Proven Pediatric Huntington Disease and Expanded Mutations > 80 CAG Repeats. Journal of personalized medicine 12 (1) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Gioia Mastromoro, Daniele Guadagnolo, Nader Khaleghi Hashemian, Laura Bernardini, Antonella Giancotti, Gerardo Piacentini, Alessandro De Luca, Antonio Pizzuti
A Pain in the Neck: Lessons Learnt from Genetic Testing in Fetuses Detected with Nuchal Fluid Collections, Increased Nuchal Translucency versus Cystic Hygroma-Systematic Review of the Literature, Meta-Analysis and Case Series. Diagnostics (Basel, Switzerland) 13 (1) (2022)
Alessandro De Luca, Annunziata Morella, Federica Consoli, Sergio Fanelli, Julie R Thibert, Sarah Statt, Gary J Latham, Ferdinando Squitieri
A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT). International journal of molecular sciences 22 (4) (2021)
Valentina Guida, Luciano Calzari, Maria Teresa Fadda, Francesca Piceci-Sparascio, Maria Cristina Digilio, Laura Bernardini, Francesco Brancati, Teresa Mattina, Daniela Melis, Francesca Forzano, Silvana Briuglia, Tommaso Mazza, Sebastiano Bianca, Enza Maria Valente, Leila Bagherjad Salehi, Paolo Prontera, Mario Pagnoni, Romano Tenconi, Bruno Dallapiccola, Giorgio Iannetti, Luigi Corsaro, Alessandro De Luca, Davide Gentilini
Genome-Wide DNA Methylation Analysis of a Cohort of 41 Patients Affected by Oculo-Auriculo-Vertebral Spectrum (OAVS). International journal of molecular sciences 22 (3) (2021)
Alessandra D'Amico, Carmen Rosano, Luca Pannone, Valentina Pinna, Antonia Assunto, Marialetizia Motta, Lorenzo Ugga, Paola Daniele, Roberta Mandile, Lucio Mariniello, Maria Anna Siano, Claudia Santoro, Giulio Piluso, Simone Martinelli, Pietro Strisciuglio, Alessandro De Luca, Tartaglia Marco, Daniela Melis
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Clinical genetics 100 (5) (2021)
Giulio Calcagni, Flaminia Pugnaloni, Maria Cristina Digilio, Marta Unolt, Carolina Putotto, Marcello Niceta, Anwar Baban, Francesca Piceci Sparascio, Fabrizio Drago, Alessandro De Luca, Tartaglia Marco, Bruno Marino, Paolo Versacci
Cardiac Defects and Genetic Syndromes: Old Uncertainties and New Insights. Genes 12 (7) (2021)
Valentina Guida, Francesca Piceci Sparascio, Laura Bernardini, Francesco Pancheri, Daniela Melis, Dario Cocciadiferro, Mario Pagnoni, Marianna Puzzo, Marina Goldoni, Chiara Barone, Hossein Hozhabri, Carolina Putotto, Maria Grazia Giuffrida, Silvana Briuglia, Orazio Palumbo, Sebastiano Bianca, Franco Stanzial, Francesco Benedicenti, Ariana Kariminejad, Francesca Forzano, Leila Baghernajad Salehi, Teresa Mattina, Francesco Brancati, Marco Castori, Massimo Carella, Maria Teresa Fadda, Giorgio Iannetti, Bruno Dallapiccola, Maria Christina Digilio, Bruno Marino, Tartaglia Marco, Alessandro De Luca
Copy number variation analysis implicates novel pathways in patients with oculo-auriculo-vertebral-spectrum and congenital heart defects. Clinical genetics 100 (3) (2021)
Flavia Cerrato, Angela Sparago, Francesca Ariani, Fulvia Brugnoletti, Luciano Calzari, Fabio Coppedè, Alessandro De Luca, Cristina Gervasini, Emiliano Giardina, Fiorella Gurrieri, Cristiana Lo Nigro, Giuseppe Merla, Monica Miozzo, Silvia Russo, Eugenio Sangiorgi, Silvia M Sirchia, Gabriella Maria Squeo, Silvia Maria Tabano, Elisabetta Tabolacci, Isabella Torrente, Maurizio Genuardi, Giovanni Neri, Andrea Riccio
DNA Methylation in the Diagnosis of Monogenic Diseases. Genes 11 (4) (2020)
Christina Lissewski, Valérie Chune, Francesca Pantaleoni, Alessandro De Luca, Yline Capri, Julia Brinkmann, Francesca Lepri, Paola Daniele, Erika Leenders, Laura Mazzanti, Emanuela Scarano, Francesca Clementina Radio, Kerstin Kutsche, Alma Kuechler, Marion Gérard, Kara Ranguin, Marine Legendre, Yoann Vial, Ineke van der Burgt, Tuula Rinne, Elena Andreucci, Gioia Mastromoro, Maria Cristina Digilio, Hélène Cave, Tartaglia Marco, Martin Zenker
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications. European journal of human genetics : EJHG 29 (1) (2020)
Hossein Hozhabri, Francesca Piceci Sparascio, Hamidreza Sohrabi, Leila Mousavifar, René Roy, Daniela Scribano, Alessandro De Luca, Cecilia Ambrosi, Meysam Sarshar
The Global Emergency of Novel Coronavirus (SARS-CoV-2): An Update of the Current Status and Forecasting. International journal of environmental research and public health 17 (16) (2020)
Julia Brinkmann, Christina Lissewski, Valentina Pinna, Yoann Vial, Francesca Pantaleoni, Francesca Lepri, Paola Daniele, Birute Burnyte, Goran Cuturilo, Christine Fauth, Alper Gezdirici, Dieter Kotzot, Elif Yılmaz Güleç, Violeta Iotova, Denny Schanze, Francis Ramond, Markéta Havlovicová, Gulen Eda Utine, Pelin Ozlem Simsek-Kiper, Milena Stoyanova, Alain Verloes, Alessandro De Luca, Tartaglia Marco, Hélène Cave, Martin Zenker
The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered. European journal of human genetics : EJHG 29 (3) (2020)
Francesca Piceci-Sparascio, Adrian Palencia-Campos, Patricia Soto-Bielicka, Angela D'Anzi, Valentina Guida, Jessica Rosati, Jose A Caparros-Martin, Isabella Torrente, M Cecilia D'Asdia, Paolo Versacci, Silvana Briuglia, Pablo Lapunzina, Tartaglia Marco, Bruno Marino, M Cristina Digilio, Victor L Ruiz-Perez, Alessandro De Luca
Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis-van Creveld syndrome caused by hypomorphic mutations in the EVC gene. Human mutation 41 (12) (2020)
Mariachiara Lodi, Luigi Boccuto, Andrea Carai, Antonella Cacchione, Evelina Miele, Giovanna Stefania Colafati, Francesca Diomedi-Camassei, Luca De Palma, Alessandro De Benedictis, Elisabetta Ferretti, Giuseppina Catanzaro, Agnese Pò, Alessandro De Luca, Martina Rinelli, Francesca Romana Lepri, Emanuele Agolini, Marco Tartaglia, Franco Locatelli, Angela Mastronuzzi
Low-Grade Gliomas in Patients with Noonan Syndrome: Case-Based Review of the Literature. Diagnostics (Basel, Switzerland) 10 (8) (2020)
Hossein Hozhabri, Mehrdad Talebi, Mohammad Y V Mehrjardi, Alessandro De Luca, Mohammadreza Dehghani
Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. American journal of medical genetics. Part A 182 (5) (2020)
Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, Dusica Babovic-Vuksanovic, Laura Baker, Donald G Basel, Mario Bengala, James T Bennett, Chelsea Chambers, Lola K Clarkson, Maurizio Clementi, Fanny M Cortés, Mitch Cunningham, M Daniela D'Agostino, Martin B Delatycki, Maria C Digilio, Laura Dosa, Silvia Esposito, Stephanie Fox, Mary-Louise Freckmann, Christine Fauth, Teresa Giugliano, Sandra Giustini, Allison Goetsch, Yael Goldberg, Robert S Greenwood, Cristin Griffis, Karen W Gripp, Punita Gupta, Eric Haan, Rachel K Hachen, Tamara L Haygarth, Concepción Hernández-Chico, Katelyn Hodge, Robert J Hopkin, Louanne Hudgins, Sandra Janssens, Kory Keller, Geraldine Kelly-Mancuso, Aaina Kochhar, Bruce R Korf, Andrea M Lewis, Jan Liebelt, Angie Lichty, Robert H Listernick, Michael J Lyons, Isabelle Maystadt, Mayra Martinez Ojeda, Carey McDougall, Lesley K McGregor, Daniela Melis, Nancy Mendelsohn, Malgorzata J M Nowaczyk, June Ortenberg, Karin Panzer, John G Pappas, Mary Ella Pierpont, Giulio Piluso, Valentina Pinna, Eniko K Pivnick, Dinel A Pond, Cynthia M Powell, Caleb Rogers, Noa Ruhrman Shahar, S Lane Rutledge, Veronica Saletti, Sarah A Sandaradura, Claudia Santoro, Ulrich A Schatz, Allison Schreiber, Daryl A Scott, Elizabeth A Sellars, Ruth Sheffer, Elizabeth Siqveland, John M Slopis, Rosemarie Smith, Alberto Spalice, David W Stockton, Haley Streff, Amy Theos, Gail E Tomlinson, Grace Tran, Pamela L Trapane, Eva Trevisson, Nicole J Ullrich, Jenneke Van den Ende, Samantha A Schrier Vergano, Stephanie E Wallace, Michael F Wangler, David D Weaver, Kaleb H Yohay, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen B M Claes, Marica Eoli, Yolanda Martin, Katharina Wimmer, Alessandro De Luca, Eric Legius, Ludwine M Messiaen
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1. Human mutation 41 (1) (2019)
Marialetizia Motta, Antonella Giancotti, Gioia Mastromoro, Balasubramanian Chandramouli, Valentina Pinna, Francesca Pantaleoni, Niccolò Di Giosaffatte, Stefania Petrini, Tommaso Mazza, Valentina D'Ambrosio, Paolo Versacci, Flavia Ventriglia, Giovanni Chillemi, Antonio Pizzuti, Tartaglia Marco, Alessandro De Luca
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy. Human mutation 40 (8) (2019)
Maria G Giuffrida, Gioia Mastromoro, Valentina Guida, Mauro Truglio, Maria Fabbretti, Barbara Torres, Tommaso Mazza, Alessandro De Luca, Mario Roggini, Laura Bernardini, Antonio Pizzuti
A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. American journal of medical genetics. Part A 182 (3) (2019)
Rosangela Ferese, Monica Bonetti, Federica Consoli, Valentina Guida, Anna Sarkozy, Francesca Romana Lepri, Paolo Versacci, Stefano Gambardella, Giulio Calcagni, Katia Margiotti, Francesca Piceci Sparascio, Hossein Hozhabri, Tommaso Mazza, Maria Cristina Digilio, Bruno Dallapiccola, Marco Tartaglia, Bruno Marino, Jeroen den Hertog, Alessandro De Luca
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect. Human mutation 39 (10) (2018)

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Alessandro De Luca