67Publications
J Cell Physiol 2021 Jan 11. Epub 2021 Jan 11.
Institute for Maternal and Child Health-IRCCS Burlo Garofolo, Trieste, Italy.
Mol Genet Genomic Med 2020 Dec 24:e1576. Epub 2020 Dec 24.
Medical Genetics, University Hospital of Parma, Parma, Italy.
Am J Med Genet A 2020 Nov 30. Epub 2020 Nov 30.
University of Trieste, Trieste, Italy.
Genes (Basel) 2020 Oct 22;11(11). Epub 2020 Oct 22.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
Epileptic Disord 2020 Oct;22(5):659-663
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste.
J Clin Endocrinol Metab 2020 Oct 1. Epub 2020 Oct 1.
Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.
Ital J Pediatr 2020 Aug 26;46(1):119. Epub 2020 Aug 26.
Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137, Trieste, Italy.
Prenat Diagn 2020 12 28;40(12):1563-1568. Epub 2020 Aug 28.
Department of Medical Genetics, Institute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.
Pediatr Nephrol 2020 Aug 10. Epub 2020 Aug 10.
Paediatric Department, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Paediatric Department, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
Ital J Pediatr 2020 Jun 10;46(1):81. Epub 2020 Jun 10.
Institute for Maternal and Child Health "IRCCS Burlo Garofolo", Trieste, Italy.
J Pediatr 2020 10 6;225:269-270. Epub 2020 Jun 6.
Genetics, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Front Genet 2020 7;11:464. Epub 2020 May 7.
Nephrology, Dialysis and Transplantation Unit, Department of Experimental, Diagnostic and Specialty Medicine (DIMES), S. Orsola-Malpighi University Hospital, Bologna, Italy.
Immunol Lett 2020 Apr 12. Epub 2020 Apr 12.
Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia, Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy.
Epileptic Disord 2019 Oct;21(5):466-470
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo" - Trieste.
J Hum Genet 2019 Nov 11;64(11):1075-1081. Epub 2019 Sep 11.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Inflamm Res 2019 Nov 29;68(11):901-904. Epub 2019 Aug 29.
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137, Trieste, Italy.
Immunol Lett 2019 10 20;214:52-54. Epub 2019 Aug 20.
Institute of Molecular Medicine "Angelo Nocivelli", University of Brescia; Viale Europa 11, 25123, Brescia, Italy; Asst Spedali Civili, Piazzale Spedali Civili 1, 25123, Brescia, Italy. Electronic address:
Arch Dis Child 2020 Nov 10;105(11):1117. Epub 2019 Aug 10.
Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Hum Mutat 2019 12 1;40(12):2286-2295. Epub 2019 Oct 1.
Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Hear Res 2019 09 13;381:107769. Epub 2019 Jul 13.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy; University of Trieste, Department of Medicine, Surgery and Health Sciences, Trieste, Italy.
Calcif Tissue Int 2019 Aug 25;105(2):215-221. Epub 2019 May 25.
Department of Medical Genetics and Rare Orthopaedic Diseases & CLIBI Laboratory, IRCCS Istituto Ortopedico Rizzoli, Bologna, Italy.
Mol Genet Genomic Med 2019 05 28;7(5):e639. Epub 2019 Mar 28.
Congenit Anom (Kyoto) 2019 Nov 5;59(6):197-198. Epub 2019 Mar 5.
MAGI Euregio, Research Division, Via Maso della Pieve, Bolzano, Italy.
Mol Genet Genomic Med 2019 03 9;7(3):e546. Epub 2019 Jan 9.
Front Genet 2018 21;9:681. Epub 2018 Dec 21.
J Paediatr Child Health 2018 Apr 7;54(4):446-448. Epub 2018 Feb 7.
Institute for Maternal and Child Health, Burlo Garofolo Pediatric Institute, Trieste, Italy.
Nat Commun 2017 12 19;8(1):2176. Epub 2017 Dec 19.
INSERM UMR1163, Laboratory of Neurogenetics and Neuroinflammation, Paris, 75015, France.
J Pediatr Hematol Oncol 2018 07;40(5):e323-e326
Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health, IRCCS Burlo Garofolo.
Genome Med 2017 07 19;9(1):67. Epub 2017 Jul 19.
Interuniversity Institute of Bioinformatics in Brussels ULB-VUB, Brussels, 1050, Belgium.
Am J Med Genet A 2017 Jul 14;173(7):1970-1974. Epub 2017 Apr 14.
Department of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
J Ultrasound Med 2016 Jun;35(6):1359-61
Department of Obstetrics and Gynecology, Institute for Maternal and Child Health, Istituto Di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy.
World J Pediatr 2016 May 18;12(2):219-24. Epub 2015 Dec 18.
Unit of Pediatrics, Department of Medical and Surgical Sciences, University of Foggia, Foggia, Italy.
Mutat Res 2015 Nov 10;781:32-6. Epub 2015 Sep 10.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy. Electronic address:
Mol Med Rep 2015 Oct 11;12(4):6128-32. Epub 2015 Aug 11.
Department of Advanced Diagnostic and Clinical Trials, Institute for Maternal and Child Health ‑ IRCCS 'Burlo Garofolo', Trieste, Trieste 34137, Italy.
Clin Immunol 2015 Jul 1;159(1):33-6. Epub 2015 May 1.
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
J Bone Miner Res 2015 Oct 21;30(10):1814-21. Epub 2015 May 21.
UOS/IRGB, Milan Unit, National Research Council (CNR), Milan, Italy.
J Pediatr 2015 Mar 31;166(3):776. Epub 2014 Dec 31.
University of Trieste, Trieste, Italy; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
J Pediatr 2015 Feb 27;166(2):490-90.e1. Epub 2014 Nov 27.
Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", University of Trieste, Trieste, Italy.
Genet Med 2015 May 18;17(5):396-9. Epub 2014 Sep 18.
1] Department of Medical, Surgical and Health Sciences, University of Trieste, Trieste, Italy [2] Institute for Maternal and Child Health, IRCCS "Burlo Garofolo," Trieste, Italy.
Gene 2014 Jul 14;545(2):290-2. Epub 2014 May 14.
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Arch Dis Child Fetal Neonatal Ed 2014 Nov 19;99(6):F514. Epub 2014 Apr 19.
Pediatric Unit, St 'Maria dei Battuti Hospital', AOSMA, S.Vito al Tagliamento, Italy.
J Pediatr 2014 Jul 3;165(1):201-201.e1. Epub 2014 Apr 3.
Department of Pediatrics, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Clin Endocrinol (Oxf) 2014 Nov 30;81(5):679-88. Epub 2014 Jan 30.
Department of Pediatrics, Metabolic Unit, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Am J Med Genet A 2014 Jan 4;164A(1):170-6. Epub 2013 Dec 4.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
Am J Med Genet A 2014 Jan 22;164A(1):42-7. Epub 2013 Nov 22.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo"-Trieste, Italy.
Gene 2014 Jan 6;534(2):236-9. Epub 2013 Nov 6.
Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Via dell'Istria, 34137 Trieste, Italy; University of Trieste, Trieste, Italy. Electronic address:
Gene 2013 Dec 26;531(2):506-9. Epub 2013 Aug 26.
Institute for Maternal and Child Health, IRCCS Burlo Garofolo, via dell'Istria 65/1, 34137 Trieste, Italy.
Gene 2013 May 16;521(1):160-5. Epub 2013 Mar 16.
Gene 2013 Mar 22;516(1):122-5. Epub 2012 Dec 22.
Medical Genetics, Institute for Maternal and Child Health - IRCCS "Burlo Garofolo", Trieste, Italy.
Eur J Med Genet 2013 Jan 7;56(1):62-5. Epub 2012 Nov 7.
Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Via dell'Istria 65/1, 34137 Trieste, Italy.
Acta Paediatr 2012 Dec 23;101(12):e573-7. Epub 2012 Sep 23.
Ophthalmic Genet 2013 Mar-Jun;34(1-2):115-7. Epub 2012 Jul 30.
PLoS Genet 2012 19;8(7):e1002655. Epub 2012 Jul 19.
Centre for Population Health Sciences, University of Edinburgh, Edinburgh, Scotland, United Kingdom.
J Invest Dermatol 2012 Oct 24;132(10):2422-2429. Epub 2012 May 24.
Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany. Electronic address:
J Hum Genet 2012 May 1;57(5):311-5. Epub 2012 Mar 1.
Dermatology Unit, Ospedale Pediatrico Bambino Gesù-IRCCS, Rome, Italy.
Am J Med Genet A 2012 Feb 2;158A(2):461-4. Epub 2011 Dec 2.
Gene 2012 Jan 28;492(1):315-8. Epub 2011 Oct 28.
Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Nat Genet 2011 Sep 11;43(10):1005-11. Epub 2011 Sep 11.
Department of Health Sciences, University of Leicester, Leicester, UK.
J Pediatr Gastroenterol Nutr 2012 Jan;54(1):122-4
Department of Pediatrics, IRCCS Burlo Garofolo, University of Trieste, Trieste, Italy.
Ophthalmic Genet 2011 Nov 14;32(4):256-8. Epub 2011 Jun 14.
Ophthalmic Genet 2011 Nov 21;32(4):212-6. Epub 2011 Apr 21.
Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
J Appl Genet 2011 Feb 3;52(1):77-80. Epub 2010 Nov 3.
Department of Reproductive Sciences and Development, Institute of Child Health-IRCCS Burlo Garofolo, Via dell'Istria 65, 34137, Trieste, Italy.
Ophthalmic Genet 2010 Jun;31(2):98-100
Institute of Child and Maternal Health Burlo Garofolo, Genetics, Trieste, Italy.
Eur J Med Genet 2009 Jul-Aug;52(4):191-4. Epub 2009 Feb 9.
Medical Genetics, Department of Reproductive and Developmental Sciences, Institute for Maternal and Child Health-IRCCS Burlo Garofolo, University of Trieste, Via dell'Istria 65/1, 34137 Trieste, Italy.
Radiology 2009 Apr 3;251(1):280-6. Epub 2009 Feb 3.
Radiology Unit, Institute of Child Health, Istituto di Ricovero e Cura a Carattere Scientifico, Burlo Garofolo Hospital, Trieste, Italy.
Eur J Hum Genet 2009 Mar 3;17(3):284-6. Epub 2008 Dec 3.