Curriculum Vitae MARTINO RUGGIERI

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1 Curriculum Vitae MARTINO RUGGIERI Born in Catania on 21 st April 1962, married, 2 sons Current (University) address: Affiliation: Department of Clinical and Experimental Medicine Section of Pediatrics and Child Neuropsychiatry University of Catania A.O.U. Policlinico-Vittorio Emanuele Via S. Sofia, Catania Tel [office]; [ward] Fax Cell m.ruggieri@unict.it Summary Associate Professor of Paediatrics [since 2009]; Vice-Director [ ], Department of Educational Sciences, University of Catania; Specialty in Paediatrics [Catania, 1995], PhD in paediatric sciences [Catania/Oxford, 2000]; specialty, PhD and postgraduate training in paediatric neurology/neurogenetics [ ] at Dept. Medical Genetics/Paediatric Neurology, JRH, University of Oxford, UK and Dept. Neurology/Neurogenetics, MGH, Harvard University, Boston, USA; board certified (ASN/ANVUR) as Full Professor of Paediatrics and Child Neuropsychiatry [2014]; editor of books: Neurocutaneous Disorders (Springer, 2008, 2015) and Immunemediated Disorders of the Nervous System in Childhood (Springer-Verlag, 2015); author > 200 international peer-reviewed articles [I.F. = 549; h-index = 24; hc = 16]; Deputy Editor: J Brach Plex Periph Nerve Inj [ ]; Associate Editor: Child Nerv Syst [ ] and The Child [since 2012]; member of board: Behavioural Neurology [since 2014] and Prospettive in Pediatria [since 2012]; President, Italian Paediatric Neuroimmunology Study Group (GNIP); Founding member, International Paediatric Multiple Sclerosis Study Group (IPMSSP); Italian member, Society for the Study of Childhood in the Past (SSCP); member of board, Gruppo di Studio di Storia della Pediatria (GSSP), SIP; two complex malformation syndromes bear his name: (a) with skin mosaicism of the cutis tricolor type [Ruggieri-Happle syndrome: Eur J Pediatr 2000; 159: ]; and (b) with mixed/paired vascular nevi [Ruggieri-Leech syndrome: Am J Med Genet 2012; 150A: ]. ACADEMIC DEGREES B.A. (History of Literature), 1984, University of Oxford, UK M.D., 1991, University of Catania Residency in Paediatrics, 1995, University of Catania Ph.D. (Paediatrics), 2000, Universities of Catania and Oxford TRAINING, POST HELD and RESEARCH EXPERIENCE Resident in Paediatrics, Unit of Paediatric Neurology, Department of Paediatrics, University of Catania, Italy, November May 1995 Clinical Research Assistant with senior registrar status, Department of Medical Genetics, Paediatrics and Paediatric Neurology (supervisors Prof. Susan M. Huson; Drs. Mike Pike and Anthony McShane; Dr Philip Anslow], Churchill Hospital, John Radcliffe Hospital, Radcliffe

2 Infirmary, University of Oxford, UK [May Oct 1998; March April 1999] Visiting research fellow, Department of Clinical Neurology, Child Neurology and Neurogenetics [supervisors Dr Bruce Korf, Mia Mc Collin], Massachusetts General Hospital/MGH, Harvard University, Boston, USA, July August 1995 Researcher ( ) - 1 st Researcher ( ), Institute of Neurological Sciences, CNR, Catania Assistant Professor in Paediatrics (MED/38), Faculty of Medicine and Surgery, University of Catania ( ) Associate Professor of Paediatrics (MED/38), Department of Educational Sciences, University of Catania (since November 2009) Vice-Director, Department of Educational Sciences, University of Catania (November November 2014) CURRENT POSITION Associate Professor of Paediatrics (MED/38), Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania (since January 2015) Board Certified (ASN/ANVUR) as Full Professor of Paediatrics and Child Neuropsychiatry (6G1: February 2014) GRANTS I conducted clinical research according to GCP and I authorize the use of my personal data according to D.Lgs. n 196/2003 CNR, A (Roma, 1996): Studio clinico e genetico della NF1 segmentale Oxfordshire Health Services Research (Oxford, GB ): Segmental NF1 Medical Research Council (Oxford, ): Neonatal spinal cord lesions ASSERT Angelman Lay Group (London, ): Angelman sindrome and epilepsy Ministry of Health, National/Regional Projects ( ): Oncogeni nella NF1 National Institute of Health (Boston, ): Sclerosi multipla infantile CNR, Commessa Ricerca a Tema Libero (Rome, 2006): Sindromi neurocutanee CNR, Commessa Ricerca a Tema Libero (Rome, 2008): Le neurofibromatosi AST onlus (Rome, 2012): mrna targeting specific pathways in tuberous sclerosis AST onlus (Rome, 2013): mrna targeting specific pathways in tuberous sclerosis EDITORIAL BOARDS : Deputy Editor: Journal of Brachial Plexus & Peripheral Nerve Injury/JBP&PNI : Associate/Advisory Editor: Child s Nervous System 2012: Advisory Editor: The Child. A Journal of Paediatrics 2012: Member of the Scientific Committee: Prospettive in Pediatria [Official Journal of the Italian Society of Paediatrics - SIP] 2014: Advisory Editor: Behavioural Neurology RESEARCH PAPERS [WOS/Scopus/Medline] 210 original papers in peer-reviewed journal in Scopus/Pubmed: 1 editorial, 20 reviews, 189 original papers; Total IF = ; Average IF = 2.842; H-index = 24; Contemporary H-index = 15 Total citations = 2,236

3 RESEARCH PAPERS [not appearing in WOS/Scopus/Medline] 150 papers in international and national peer-reviewed journals not appearing in Scopus/Pubmed 62 chapters in international/national books. AD HOC REVIEWER 33 peer-reviewed Journals including: New Engl J Med, Lancet, Lancet Neurology, Ann Neurol, Neurology, J Med Gen, Clin Genet, Pediatrics, J Pediatr, Am J Med Genet, Dev Med Child Neurol, Arch Dis Child, Eur J Ped Neurol, Ped Neurol, Neuropediatrics, Acta Paediatr EDITOR BOOKS [National] Neurologia pediatrica - Masson/Elsevier, 2001; 2 ed., 2006 Le Neurofibromatosi - ANF, Parma, 2000; 2 ed Sclerosi Tuberosa - AST, Rome, 2009 Neurologia e Psichiatria dello sviluppo, Elsevier/Masson, 2012 EDITOR BOOKS [International] Neurocutaneous disorders - Springer-Verlag, 2008 EDITOR BOOKS - in preparation [International] Immune-mediated disorders of the nervous system in childhood, Springer-Verlag, 2014 Neurocutaneous disorders, 2 nd ed. (revised), Springer-Verlag, 2015 History of Paediatrics: growing up in ancient world, Elsevier, 2015 Two complex malformation syndromes bear his name: Ruggieri-Leech (mixed vascular nevi) syndrome Ruggieri-Happle (cutis tricolor) syndrome

4 Research papers [peer-reviewed] [ISI/WOS, Scopus, PubMed] (September) 1. Int J Ped Othorhinolar 1994;30:79-84 IF = Dev Brain Dysf 1994;17: Neuropediatrics 1994;25:1 IF = Neuroradiology 1994;1: IF = [4.797] 5.Pediatr Radiol 1995;25: IF = Am J Med Genet 1995;59: IF = Pediatr Radiol 1995;25:S1: IF = Ital J Pediatr 1995;21:88-96 IF = Ital J Pediatr 1995;21: IF = Am J Hum Genet 1995;57:S321 IF = [18.817] 11. Am J Med Genet 1996;61: IF = Genes Chromos Cancer 1996;15: IF = Eur Heart J 1996;17:968 IF = Neurology 1996;45: IF = Clin Dysmorph 1996;5: IF = Clin Pediatr 1996;35: IF = Clin Pediatr 1996;35: IF = J Neurosurg 1996;85: IF = Ann Neurol 1996;40:302 IF = Ann Neurol 1996;40: IF = [58.897] 21. Curr Pediatr 1997;7: [Invited review] 22. Ped Dermatol 1997;14: IF = J Med Genet 1997;34: IF = J Neuroimmunol 1997;76: IF = Am J Med Genet 1997;71: IF = Clin Pediatr 1997;36: IF = Clin Dysmorph 1997;6: IF = Ital J Pediatr 1997;23: IF = Genet Counsel 1997;8: IF = Genet Counsel 1997;8: IF = Genet Counsel 1997;8: IF = Am J Hum Genet 1997;61(S1):A349 IF = [26.854] 33. Pediatrics 1998;101: IF = Br J Radiol 1998;71: IF = Hum Genet 1998;102: IF = Postgr Med J 1998;74: IF = Arch Dis Child 1998;79: IF = Ital J Pediatr 1998;24:XVII-XVIII IF = [17.157] 39. Dev Med Child Neurol 1999;41: IF = Or Surg Or Med Or Pathol Oral Rad 1999;87: IF = J Pediatr Orthop 1999;19: IF = Dev Med Child Neurol 1999;41: IF = Acta Paed 1999;88: IF = Neurology 1999;53: IF = Minerva Pediatr 1999;51: IF = 0.723

5 46. Neurol Sciences 1999;20: [Invited review] IF = Child s Nerv Syst 1999;15: [Invited review] IF = J Med Genet 1999;36(Suppl1):S69 IF = [28.174] 49. J Med Genet 2000;37:44-49 IF = Arch Dermatol 2000:136: IF = Eur J Pediatr 2000;159: IF = J Neurosurg 2000:93: IF = Eur J Pediatr 2000;159: IF = Am J Med Genet 2000;95:82-84 IF = Pathol Res Pract 2000;196: IF = Virchow Arch 2000;437: IF = Minerva Pediatr 2000;52: IF = J Child Neurol 2000;15: [Invited review] IF = Neurol Sciences 2000;21(4 Suppl) IF = Neurol Sciences 2000;21(4 Suppl) IF = Neurol Sciences 2000;21(4 Suppl) IF = [30.035] 62. Lancet 2001;357: IF = Arch Pathol Lab Med 2001;125: IF = Pediatr Neurol 2001;24: IF = Am J Med Genet 2001;101: IF = Neurology 2001;56: IF = Clin Neurol Neurosurg 2001;103: IF = Eur J Pediatr Neurol 2001;5: IF = Neurology 2001;56: [Editorial] IF = Neurology 2001;56: [Invited review] IF = [73.402] 71. Virch Arch 2002;441: IF = Arch Gerontol Geriat 2002;suppl 8: IF = Arch Gerontol Geriat 2002;suppl 8: IF = Arch Gerontol Geriat 2002;suppl 8: IF = Arch Gerontol Geriat 2002;suppl 8: IF = Arch Gerontol Geriat 2002;suppl 8: IF = Arch Gerontol Geriat 2002;suppl 8: IF = [11.711] 78. Am J Med Genet 2003;116A: IF = J Med Genet 2003; 40: IF = Am J Med Genet 2003;120A: IF = Case Rep Clin Pract Rev 2003;4: Ital J Pediatr 2003;29: IF = Am J Hum Genet 2003;73:577 IF = J Med Genet 2003;40:S36 IF = [27.595] 85. Hum Mutat 2004;23: IF = B Jr Ophthalmol 2004;88: IF = Neurol Science 2004;25(suppl4):S326-S335[Review] IF = Neurol Science 2004;25(suppl4):S346-S349 IF = Neuropediatrics 2004;35: IF = Neurol Scie 2004;25:S65-S66 IF = Mult Scler J 2004;1071:S IF = Epilepsia 2004;45:31 IF = [21.400] 93. Neuropediatrics 2005;36:21-34 IF = Neuropediatrics 2005;36: IF = Acta Paediatr 2005;94: IF = Am J Med Genet 2005;136:357 IF = 2.048

6 97. J Pediatr Endocrinol Metab 2005;18: IF = Ital J Pediatr 2005;31: IF = Neurology 2005;64:A194 IF = [16.352] 100. Pediatr Neurol 2006;34:66-71 IF = [0.957] 101. The Lancet Neurology 2007;6: IF = Pediatr Neurol 2007;37: IF = Pediatr Neurol 2007;36: IF = Am J Gastroenterol 2007:102:1831 IF = Am J Hum Genet 2007;81: IF = [43.937] 106. J Pediatr 2008;152: IF = J Pediatr 2008;153:298-9 IF = Hum Mutat 2008;29:74-82 IF = Epilepsy Res 2008;78: IF = J Clin Gastroenterol 2008;42:715-9 IF = J Pediatr Hematol Oncol 2008;30: IF = Minerva Pediatr 2008;60 : IF = Clin Genet 2008;74: IF = Minerva Pediatr 2008; 60: IF = Neurol Sci 2008;29:495-6 IF = Orthopaedics 2008;31:498 IF = [28.337] 117. Br J Ophthalmol 2009;93: IF = Child s Nerv Syst 2009;25:111-8 IF = Child s Nerv Syst 2009;25:211-6 IF = Child s Nerv Syst 2009;25: IF = Acta Pediatrica 2009;98: IF = Acta Paediatr 2009;99:7 IF = Epilepsy Res 2009;85:89-95 IF = Pediatr Neurol 2009;40:383-6 IF = Acta Paediatr 2009;98: IF = J Pediatr Gastroenterol Nutr 2009;49:202-7 IF = Neuropediatrics 2009; 40: IF = Minerva Pediatr 2009; 61: IF = [19.096] 129. Eur J Pediatr Neurol 2010; 14: IF = Eur J Pediatr 2010; 169: IF = Child s Nerv Syst 2010; 26: IF = Front Biosci 2010; 2: [invited review] IF = Acta Paediatr 2010;99: IF = Dev Med Child Neurol 2010;52: [review] IF = Child s Nerv Syst 2010; 26: IF = Pediatr Neurol 2010;43: IF = Area Pediatrica 2010;11:I-XXIII [review] 138. Neuropediatrics 2010;41:60-65 IF = Curr Neuropharmacol 2010;8:135-4 [review] IF = J Neuroimmunol 2010;223:92-99 IF = [21.459] 141. Childs Nerv Syst 2011:27: IF = Childs Nerv Syst 2011:27: IF = Acta Paediatr 2011;100: IF = Am J Med Genet 2011;155:582-5 IF = Neuropediatrics 2011;41: IF = 1.104

7 146. Pediatr Int 2011;53:964-7 IF = Acta Med Medit 2011;27: IF = Acta Med Medit 2011;27: IF = Acta Med Medit 2011;27: IF = [11.105] 150. Childs Nerv Syst 2012;28:141-5 IF = Brain Dev 2012;34: IF = J Hyperten 2012;30: IF = Int J Immunopathol Pharmacol 2012;25:513-7 IF = J Child Neurol 2012;27: IF = Epilepsia 2012;53:e IF = Brain Dev 2012;34: IF = Neuro Endocrinol Lett 2012;33: IF = The Child 2012;1(1):e The Child 2012;1(2):e The Child 2012;1(2):e Brain Dev 2012;54: IF = Clin Neuroradiol 2012;22: IF = Neurol Sci 2012;33: IF = Am J Med Genet 2012;150A: IF = [25.344] 165. Neurocase 2013;19: IF = Eur J Pediatr Neurol 2013;17: IF = J Pediatr 2013;162:217 IF = Ophthal Genet 2013:34: IF = Pediatr Neurol 2013;48:73-75 IF = Ital J Pediatr 2013;39:3 IF = Neurogenetics 2013;14:89-98 Feb 3 IF = Neuropediatrics 2013;44: IF = J Pediatr 2013;162:1084 IF = Front Neurol 2013;4:113 IF = The Child 2013;1(1):e The Child 2013;1(1):e The Child 2013;1(1):e J Endocrinol Invest 2013;36:1128 IF = J Child Neurol 2013;28: IF = [24.010] 180. Brain Dev 2014;36: IF = Int J Endocrnol 2014;2014: IF = Childs Nerv Syst 2014;30: IF = J Clin Neurosci 2014;21: IF = J Child Neurol 2014;29:58-61 IF = Pediatr Intern 2014;56: IF = Minerva Pediatr 2014;66:17-22 IF = J Pediatr Endocrinol Metab 2014;27: IF = Am J Med Genet 2014;164: IF = Am J Med Genet 2014;164A: IF = Headache 2014;54:1229 IF = Ital J Pediatr 2014;40:79 IF = Clin EEG Neuroscie 2014 Sept 1 [Epub] IF = [18.353] 193. Clin Genet 2015;87: [review] IF = JIMD Report 2015; 15: Nutrients 2015; 7: IF = Neurol Sci 2015; 36: IF = 1.405

8 197. Eur J Pediatr 2015; 174: IF = J Child Neurol 2015; 30: IF = Ital J Pediatr 2015;41:55 IF = Am J Med Genet A 2015 May 1 [Epub ahead print] IF = Intern Emerg Med 2015 Jul 9 [Epub ahead print] IF = Drug Safety - Case Reports 2015 (in press) 203. J Pediatr Neurol 2015 (in press) 204. J Pediatr Neurol 2015 (in press) 205. J Pediatr Neurol 2015 (in press) 206. J Pediatr Neurol 2015 (in press) 207. J Pediatr Neurol 2015 (in press) 208. Mult Scler Demyel Disord 2015 (in press) [review] 209. Semin Pediatr Neurol 2015 (in press) [review] IF = Semin Pediatr Neurol 2015 (in press) [review] IF = [17.930] IMPACT FACTOR (IF) ** TOTAL = [** n. 210 reviews and/or original articles published in international peer-reviewed journals: Medline/Scopus] IF = from Journal Citation Reports, JCR (ISI), IMPACT FACTOR (IF) (AVERAGE) = h-index = 24 (Scopus); h-c 2014 = 15; Research papers appearing in Scopus over last 10 years = 111 Citations (total) = 2,236; normalisation for academic age (1994/2015) = Catania, 4 th September 2015 Professor Martino Ruggieri