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MAURIZIO CLEMENTI CURRICULUM VITAE

DATI ANAGRAFICI

Nato a Venezia il 25/6/1949. Coniugato, due figli. Residenza: 35127 Padova, via Soler 7A, tel. 049 8021325 Lavoro: Servizio di Genetica ed Epidemiologia Clinica, Dipartimento di Medicina di Laboratorio, AO Padova, Dip. SDB Università di PAdova 35128 Padova, via Giustiniani 3, tel. 049 8213572, e-mail maurizio.clementi@unipd.it

EDUCAZIONE PREUNIVERSITARIA ED ACCADEMICA

Diploma di maturità classica, luglio 1968, Liceo classico "Marco Foscarini" di Venezia. Laurea in Medicina e Chirurgia, 11 luglio 1974 presso l'Università di Padova Abilitazione alla professione medica nella sessione invernale dell'A.A. 1973-1974. Specializzazione in Clinica Pediatrica (20.11.1976), Università degli studi di Padova (massimo dei voti e lode) Specializzazione in Genetica Medica (24.10.1981), Università di Roma "La Sapienza" (massimo dei voti e lode) Idoneità a primario pediatra, Roma, Settembre 1987. Idoneità a Professore di II fascia SSD MED/03, Università di Padova, 2000 Idoneità a Professore di I fascia SSD MED/03, Università di Catania, 2007

INCARICHI

Medico interno, Clinica Pediatrica, Università di Padova 1/8/74-19/1/77 e 16/6/77-13/9/77. Esercitatore di Clinica Pediatrica, Università di Padova, per gli A.A. 1975/76 e 1976/77. Assistente incaricato, Clinica Pediatrica, Università di Padova, dal 20/1/77 al 30/3/77 (1^ Cattedra); dal 31/3/77 al 15/6/77 (2^ Cattedra), dal 14/9/77 al 31/7/80 (Cattedra di Puericultura). Aiuto Universitario con compiti assistenziali dal 1988. Ricercatore confermato Universitario (gruppo disciplinare F03X Genetica Medica) dall'1/8/1980 al 30/9/200, Università di Padova. Professore Associato di Genetica Medica (MED/03) dal 1/10/2000, Università di Padova, Facoltà di Medicina e Chirurgia Professore Ordinario di Genetica Medica (MED/03) dal 1/12/2008, Università di Padova, Facoltà di Medicina e Chirurgia Direttore U.O.C. Genetica ed Epidemiologica Clinica, Azienda Ospedale Università di Padova

SOGGIORNI DI STUDIO

-1980-81: Istituto di Zoologia e Genetica, Università di Ferrara (Pr. I.Barrai) -1985: Centre de Génétique Medicale, Università di Marsiglia (Dr. S.Aymé) -1990: Genetic Epidemiology, Università di Southampton (Pr. NE Morton). -1991: Human Genetics, Università di Munster (Prof. IH Pawlowitzki) -1993: Genetic Epidemiology, Università di Southampton (Pr. NE Morton). -1996: Genetic Epidemiology, Università di Southampton (Pr. NE Morton).

COMITATI/INCARICHI

Società scientifiche Presidente ENFG (European NeuroFibromatosis Group) dal 2014 a tuttora Direttivo Nazionale dell'Associazione Italiana di Genetica Medica per il quadriennio 1993-97 Direttivo Nazionale (segretario nazionale) della Società Italiana di Genetica Umana (S.I.G.U.) per il quadriennio 2001-2005

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Direttivo ENTIS (European Network of Teratology Information Services) dal 1996 al 2001 Presidente ENTIS (European Network of Teratology Information Services) dal 2001 al 2006 Council ETS (European Teratology Society) dal 2003 al 2006 Direttivo SITOR (Società Italiana di Tossicologia Riproduttiva) dal 2005 al 2009 Coordinatore del gruppo di lavoro della Consulenza Genetica della Società Italiana di Genetica Umana dal 1998 al 2000 Coordinatore del progetto “farmaci-malformazioni” dell’EUROCAT

INCARICI ACCADEMICI

Direttore della Scuola di Specializzazione in Genetica Medica dell’Università di Padova dall’AA 2004-5 Direttore della Scuola di Specializzazione in Genetica Medica dell’Università di Padova, Bologna, Verona, Ferrara e Trieste dall’AA 2009-2015 Membro della commissione scientifica di Facoltà AA 1997-99 Membro della commissione Biblioteche ed Enti AA 1999-2000 Direttore del Centro Per l’Informazione Genetica (CEPIG) dell’Azienda Ospedaliera di Padova Coordinatore Commissione scientifica ECM della Facoltà di Medicina e Chirurgia AA 2009-10 MINISTERI/ASSOCIAZIONI/GRUPPI DI LAVORO Rappresentante Italiano per il COMP (Comitato Orphan Drugs) presso European Medicine Agency dal 2009 al 2013 Referee del Ministero della Salute per la Educazione continua in Medicina Referee del Ministero della Università per la valutazione progetti di ricerca (ex 40%) Esperto Nazionale dell’Agenzia Italiana del Farmaco (AIFA) Esperto Nazionale per l’AIFA presso l’European MEdicine Agency (EMEA) Membro del Comitato organizzatore e/o scientifico di numerosi Congressi Italiani, Regionali e Internazionali Comitato scientifico del Centro Regionale specializzato di epidemiologia e prevenzione delle malformazioni congenite dal 1981 Direttore del Centro Regionale specializzato di epidemiologia e prevenzione delle malformazioni congenite dal 2010 Comitato scientifico dell’Associazione AISEA dal 2004 Comitato scientifico dell’Associazione LINFA "Lottiamo Insieme per la Neurofibromatosi"dal 1990 al 2015 Project Management Group del progetto BIOMED2 sull'identificazione prenatale delle anomalie morfologiche

FONDI DI RICERCA

MURST PRIN 40%

(AA.1999-2002) Emilina gene family: analisi di linkage e ricerca di mutazioni in sindromi malformative candidate (Responsabile U.O.) (AA 2005-2006, Coordinatore Nazionale) Esposizione a farmaci antifungini in epoca embriofetale e valutazione del rischio teratogeno. studio sperimentale su animali e prospettico nell'uomo. MURST 60% (AA.1986-2005) [ricerche di genetica applicata] progetti Regione Veneto FinalizzatI (1996-98, 2000-2001) [ricerche di genetica applicata] Telethon (1996) [modello ereditario della palatoschisi] AIRC (1996-97) [modello ereditario del cancro gastrico] Fondazione Cassa Risparmio di Venezia (1999, 2000, 2001) [geni, farmaci e malformazioni] Ministero della Salute ex-art 12 per la Regione Molise (Responsabile scientifico Nazionale della ricerca) (AA 2004-2006) [analisi di geni modificatori nella NF1] AIFA progetto Farmaci e Gravidanza Progetto InterReg Italia-Slovenia

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REFEREE/EDITORIAL BOARD

Referee di Riviste Internazionali: (Am J Med Genet, Eur J Hum Genet, Genet Community, BJOB, EJOG, Reproductive Toxicology, Teratology) Membro dell’Editorial board di Reproductive Toxicology dal 2004 al 2008

SOCIETA'

Associazione Italiana di Genetica Medica Società Italiana di Genetica Umana European Society of Human Genetics International Genetic Epidemiology Society (dal 1993) American Society of Human Genetics (dal 1996) Società Italiana di Pediatria (dal 1977 al 1992) Associazione di Genetica Italiana (dal 1980 al 2000) BORSE DI STUDIO

contratto di studio ERASMUS per una visita di studio in Inghilterra (1990) premio "Cultura ed handicap" (1990). Premio NNFF – Neurofibromatosi Foundation (2000)

COLLABORAZIONI CLINICO-SCIENTIFICHE PIU’ RILEVANTI

Nazionali

• Università di Tor Vergata (G. Novelli)

• Università di Verona (Genetica Medica)

• CNR Catania (M. Ruggieri)

• Università di Milano (L. Larizza, P. Riva)

• Università di Genova (E. Bonioli)

• Università di Udine (M. Baraldo)

• Università Cattolica Roma (M. De Santis) Internazionali

• Università di Southampton - UK (NE Morton, A Collins - Genetic Epidemiology)

• Università di Strasbourg - F (C.Stoll - Genetica Medica)

• Università di Newcastle - UK (P.McElhatton, SIT)

• Università di Gerusalemme e Tel Aviv – Israele (A. Ornoy, P. Merlob)

• Gruppo lavoro Biomed 2 Ecografia prenatale, [PMG e coordinatore scientifico] (Barcellona, Bilbao, Catania, Firenze, Graz, Groningen, Kiev, Mainz, Parigi, Oxford, Odensa, Rotterdam, Southampton, Strasburgo)

• Università di Milano (L.Larizza - Genetica Medica, S.Milani - Istituto Tumori)

• ENTIS (14 SIT Europei)

• EUROCAT

• Progetto Italia-Slovenia interREG

ATTIVITA' DIDATTICA

La sua attivita` didattica si e` svolta dal 1981 ad ora in accordo alla posizione accademica nei seguenti punti:

CORSI DI LAUREA UNIVERSITA’ DI PADOVA -Insegnamento "Genetica” (dall’AA 2002-3 ad oggi) II anno Facoltà di Medicina e Chirurgia, laurea specialistica a ciclo unico in Medicina e Chirurgia -Insegnamento "Genetica medica (corso integrato di medicina interna)” (AA 2001-2, 2002-3, 2003-4, 2004-5) 6 anno Facoltà di Medicina e Chirurgia, laurea specialistica a ciclo unico in Medicina e Chirurgia

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-Insegnamento "Genetica Medica (corso integrato di Genomica funzionale e genetica medica)" (AA 2001-2, 2002-3, 2003-4, 2004-5) corso di laurea Biotecnologie Mediche -Insegnamento "Genetica Medica" (AA 1994-95, 1995-96, 1996-97, 1997-98, 1998-99, 1999-2000, 200-1) CI "BIOLOGIA e GENETICA", Diploma/corso di laurea Ortottista ed Assistente in Oftalmologia -Insegnamento "Genetica Medica" (AA 1995-96, 1996-97, 1997-98, 1998-99, 1999-2000, 2000-1) CI "BIOLOGIA e GENETICA", Diploma/corso di laurea Logopedia -Insegnamento “Tecnologie ricombinanti” (AA 1997-98, 1998-99, 1999-2000) CI

"CITOGENETICA e GENETICA MEDICA", Diploma/corso di laurea Tecnici di Laboratorio Sede Bolzano

-Insegnamento " Tecniche di Genetica Medica " (AA 1999-2000) III anno, II semestre, Diploma Universitario/laurea Tecnici di Laboratorio

-Insegnamento "Genetica Medica" (AA 1995-96, 1996-97, 1997-98, 1998-99, 1999-2000, 2000-1) CI "BIOLOGIA e GENETICA", Diploma/corso di laurea Fisioterapia - Conegliano

SCUOLE DI SPECIALIZZAZIONE UNIVERSITA’ DI PADOVA -titolare dell’insegnamento “Genetica Medica” (dall’A.A. 1990-91 ad ora) presso le scuole:

Dermatologia e Venereologia, Ematologia, Genetica Medica, Patologia Clincia, Immunologia Clinica, Neuropsichiatria infantile, Ortopedia e Traumatologia, Pediatria,

CORSI -esercitatore su nomina Rettoriale insegnamento di Clinica Pediatrica, AA 1975-76 e 1976-77 -docente in numerosi corsi di aggiornamento tra cui:

-"Corso di aggiornamento di Genetica Medica per gli operatori dei Consultori Familiari", Padova, 4-6 Marzo 1982

-"VIII Corso di aggiornamento in cardiologia pediatrica", Padova, Marzo 1988. -"II Corso di aggiornamento di Genetica Medica per gli operatori dei Consultori Familiari",

Vicenza 4-5 Maggio 1990. -"V Corso di formazione e aggiornamento su donna e cardiopatie", Verbania Pallanza, 10-

12/5/1990 -"Stato dell'arte in Foniatria e Logopedia: II modulo di formazione", Milano Luglio 1990. -"1° Corso Multidisciplinare di Ecocardiografia Fetale", Padova Aprile 1993. -"XIV Corso di aggiornamento in cardiologia pediatrica", Abano Terme, Marzo 1994. - III corso di formazione in ecografia ostetrica e ginecologica, Trieste, Settembre 1996 - IV corso di formazione in ecografia ostetrica e ginecologica, Trieste, Settembre 1997 - corso residenziale di Genetica, S.Giovanni Rotondo, Foggia, Giugno 1998 - corso Consulenza Genetica, Sestri Levante, Genova, Ottobre 1998 - corso Consulenza Genetica, Sestri Levante, Genova, novembre 2000 - corso aggiornamento ISS, Luglio 2000, Novembre 2000, Giugno 2001

- Master in anatomia fetoplacentare, Milano Gennaio 2002

- Lezioni ai Seminari della scuola di specializzazione in Genetica Medica di Verona

- III corso di aggiornamento in Genetica Medica, Genova, 2003

- Corso di aggiornamento per psicologi in diagnosi prenatale. Padova 2005

- IV corso di Genetica Cardiovascolare. Venezia Febbraio 2014

- Ecografia Ostetrica. Update. Santorso Marzo 2014

- Corso di Teratologia Clinica. Roma 5 Giugno 2015

- Tiroide donna e Bambino. Padova Marzo 2014

- XXXV corso di Aggiornamento in Cardiologia Pediatrica – Paova Marzo 2016

- Update 2016 in Ostetricia e Ginecologia. S.Donà di Piave Aprile 2016

- Focus: Diagnosi prenatale delle cardiopatie congenite. Padova Settembre 2016

- International Academy of Legal Medicine – Venice (June 2016).

- ATTIVITA' CLINICA

La sua attivita` clinica si e` svolta all'interno della Clinica Pediatrica della Universita` degli Studi di

Padova dall'1.1.1974 a tuttora con diverso ruolo giuridico.

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Dal 1976 al 1980 ha prestato servizio nella Sezione di patologia congenita e malattie gastroenteriche.

Dal 1981 svolge la sua attivita` esclusivamente presso il Servizio di Genetica Medica della Clinica. La sua attività clinica è incentrata dal 1981 a tuttora nella consulenza genetica e nella genetica

clinica rivolta non solo ai ricoverati presso l’Ospedale di Padova, ma anche, tramite un ambulatorio divisionale, ad esterni.

Il suo campo di attività clinica, ben definito dalle pubblicazioni effettuate, è in particolare rivolto al campo della dismorfologia, delle neurofibromatosi, delle malformazioni congenite, e della consulenza genetica pre- e post-natale.

Dal 1989 al 1993 ha prestato attività di consulenza di genetica clinica per le ULSS di Belluno, Arzignano (VI), Rovigo, Dolo (VE), Treviso, Bolzano e Trento nell’ambito di un’attività centro-satellite organizzata nelle regioni Veneto e Trentino Alto Adige.

Dal 1998 al 2004 ha svolto attività di convenzione per la consulenza genetica con l’azienda ospedaliera di Camposampiero (PD) e Belluno.

Dal 2001 svolge attività di convenzione per la consulenza genetica con l’azienda ospedaliera di Tiene (VI).

Nel biennio 1996-98 ha coordinato uno studio sull’epidemiologia e genetica del cancro gastrico che ha coinvolto il servizio di Genetica Clinica di Padova e l’azienda ospedale di Dolo (Anatomia Patologica e Gastroenterologia).

E’ responsabile del servizio di consulenza teratologica (SIT), che fa parte del network Europeo (ENTIS), la cui attività è rivolta non solo a richieste di consulenza provenienti dal Triveneto (circa l’80%), ma anche da altre Regioni Italiane e direttore del CEPIG (Centro Per l’Informazione Genetica).

Dal 1993 è coordinatore dell’attività del laboratorio di biologia molecolare del servizio di genetica di Padova.

Dal 1988 ha la qualifica di aiuto ai fini assistenziali su nomina rettoriale. Dal 2001 è nominato sostituto di unità operativa complessa dell’Azienda Ospedaliera di Padova.

ATTIVITA' SCIENTIFICA

La sua attività scientifica dal 1979 ad oggi consiste in 230 articoli in riviste peer-reviewed (H-Index 45) e oltre 200 tra pubblicazioni in Riviste Italiane ed Estere non recensite e comunicazioni a convegni Nazionali ed Internazionali. L’attività scientifica si può riassumere nei seguenti punti: 1. Genetica Clinica 2. Neurofibromatosi tipo 1 3. Anomalie Cromosomiche 4. Mathematical Genetics 5. Consulenza Genetica 6. Epidemiologia delle malattie genetiche e malformative 7. Teratologia – interazione geni/ambiente

ELENCO DELLE PUBBLICAZIONI in RIVISTE PEER REVIEWED

237. Brainstorm Consortium, Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu D, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nöthen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimäki T, Wedenoja J, Buring JE, Schürks M, Hrafnsdottir M,

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Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsäläinen S, Martin NG, Montgomery GW, Kurki MI, Hämäläinen E, Huang H, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Göbel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg AMJM, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kälviäinen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Møller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Boraska Perica V, Thornton LM, Huckins LM, William Rayner N, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julià A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sánchez-Mora C, Ribasés M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Arias Vasquez A, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Børglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, De Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, De-Luca DM, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Rogé B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Mühleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QS, Nauck M, Schoevers RA, Beekman AT, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosário M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kučinskas V, Lee Chee Keong J, Limborska S, Loughland C, Lönnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stögmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM.

Analysis of shared heritability in common disorders of the brain.

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236. Collantoni E, solmi M, Gallicchio S, Santonastaso P, Meneguzzo P, Carvalho AF, Stubbs B, Clementi M, Pinato C, forzan M, Cassina M, Fontana F, Piva I, Siani R, Salvo P, tenconi E, Veronese N, Correll CU, Favaro A. Catechol-O-Methyltransferase (COMT) Val158Met Polymorphism and Eating Disorders: Data From a New Biobank and Meta-Analysis of Previously Published Studies. Eur Eat Disord Rev. 2017; 25:524-532

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235. Cassina M, Calo’ A, Salviati L, Alghisi A, Montaldi A, Clementi M

Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases . European Journal of Obstetrics & Gynecology and Reproductive Biology. 2018; 221:23-7 234. Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T. In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses. 233. Trevisson E Cassina M, Opocher E, Vicenzi V, Lucchetta M, Parrozzani R, Miglionico G, Mardari R, Viscardi E, Midena E, Clementi M Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1 Journal of Neuro-Oncology 2017; 134: 279-87 232. Burgio F, Benavides-Varela S, Arcara G, Trevisson E, Frizziero D, Clementi M, Semenza C Numerical activities of daily living in adults with neurofibromatosis type 1 Journal of intellectual disability Research, 2017; 61: 1069-77 231 Li D, Chang X, Connolly JJ, Tian, L, Liu, Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim, CE, Li, J, Wang F, Snyder, J, Lemma M, Hou, C, Wei Z, Guo Y, Qiu, H, Mentch, FD, Thomas, KA, Chiavacci RM, Cone, R, Li B, Sleiman, PA, Hakonarson, H, Perica, VB, Franklin, CS, Floyd JAB, Thornton LM, Huckins LM, Southam, L, Rayner, NW, Tachmazidou, I, Schmidt, U, Tozzi, F, Kiezebrink, K, Hebebrand, J Gorwood, P, Adan, RAH, Kas, MJH, Favaro, A, Santonastaso, P, Fernánde-Aranda, F, Gratacos M, Rybakowski, F, Dmitrzak-Weglarz M, Kaprio, J, Keski-Rahkonen, A, Raevuori-Helkamaa, A, Furth EFV, Slof-Opt Landt, MCT, Hudson, JI, Reichborn-Kjennerud T, Knudsen GPS, Monteleone P, Karwautz A, Berrettini WH, Schork, NJ, Ando, T, Inoko H, Esko, T, Fischer, K, Männik, K, Metspalu, A, Baker, JH, DeSocio JE, Hilliard CE, O'Toole, JK, Pantel, J, Szatkiewicz, JP, Zerwas, S, Davis, OSP, Helder, S, Bühren, K, Burghardt R, De Zwaan, M, Egberts, K, Ehrlich, S, Herpertz-Dahlmann, B, Herzog, W, Imgart, H, Scherag, A, Zipfel S, Boni C, Ramoz, N, Versini, A, Danner, UN, Hendriks, J, Koeleman, BPC, Ophoff, RA, Strengman E, Van Elburg AA, Bruson, A, Clementi, M, Degortes, D, Forzan, M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia, S, Lissowska, J, Rajewski, A, Szeszenia-Dabrowska, N, Slopien A, Hauser J, Karhunen L, Meulenbelt, I, Slagboom, PE, Tortorella, A, Maj, M, Dedoussis, G, DIkeos D, Gonidakis F, Tziouvas K, Tsitsika, A, Papezova, H, Slachtova, L, Martaskova, D, Kennedy, JL, Levitan RD, Yilmaz Z, Huemer, J, Koubek, D, Merl, E, Wagner, G, Lichtenstein, P, Breen, G, Cohen-Woods, S, Farmer A, McGuffin P, Cichon, S, Giegling, I, Herms, S, Rujescu, D, Schreiber, S, Wichmann, H-E, DIna, C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal, S, Rabionet, R, Gaborieau, V, DIck, DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold, A, Reinvang, I, Steen, VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova, L, Janout, V, Navratilova, M, Gallinger, S, Pinto, D, Scherer SW, Aschauer H, Carlberg, L, Schosser, A, Alfredsson, L, DIng, B, Klareskog, L, Padyukov, L, Finan, C, Kalsi G, Roberts M, Barrett, JC, Estivill X, Hinney, A, Sullivan, PF, Zeggini, E, Bulik, CM, Brandt, H, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson, C, Kaplan, AS, La Via, MC, Mitchell, J, Strober, M, Rotondo A, Treasure, J, Woodside DB, Keel, PK, Klump, KL, Lilenfeld, L, Bergen, AW, Kaye, W, Magistretti, P A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling Scientific Reports, 2017, 7, art. no. 3847 230. Parrozzani R, Pilotto E, Clementi M, Frizziero L, Leonardi F, Convento E, Miglionico G, Pulze S, Perrini P, Trevisson E, Cassina M, Midena E Retinal Vascular Abnormalities In A Large Cohort of Patients Affected By Neurofibromatosis Type 1: A Study Using Optical Coherence Tomography Angiography. Retina 2017, in press 229. Cassina M. Cerqua C, rossi S, Salviati L, Martini A, Clementi M, Trevisson E. A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. European Journal of Human Genetics, 2017; 25: 371-5 228. Russo S, Calzari L, Mussa A, Mainini Cassina M, Di Candia S, Clementi M et al. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes. Clinical Epigenetics 2016; 8: art.23 227. Cassina M, Cagnoli GA, Zuccarello D, Di Gianantonio E, Clementi M Human teratogens and genetic phenocopies. Understanding pathogenesis through human genes mutation Eur J Med Genet 2017; 60: 22-31

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226. Lucchetta, M., Manara, R., Perilongo, G., Clementi, M., Trevisson, E. Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1. Radiologia Medica, 2016;121:214-7. 225. Solmi, M., Gallicchio, D., Collantoni, E., Correll, C.U., Clementi, M., Pinato, C., Forzan, M., Cassina, M., Fontana, F., Giannunzio, V., Piva, I., Siani, R., Salvo, P., Santonastaso, P., Tenconi, E., Veronese, N., Favaro, A. Serotonin transporter gene polymorphism in eating disorders: Data from a new biobank and META-analysis of previous studies. World Journal of Biological Psychiatry, 2016;19:1-14. 224. Davanzo, R., Bua, J., De Cunto, A., Farina, M.L., De Ponti, F., Clavenna, A., Mandrella, S., Sagone, A., Clementi, M. Advising Mothers on the Use of Medications during Breastfeeding : A Need for a Positive Attitude Journal of Human Lactation, 2016;32:15-9. 223. Collantoni, E., Michelon, S., Tenconi, E., Degortes, D., Titton, F., Manara, R., Clementi, M., Pinato, C., Forzan, M., Cassina, M., Santonastaso, P., Favaro, A. Functional connectivity correlates of response inhibition impairment in anorexia nervosa. Psychiatry Research – Neuroimaging, 2016;247:9-16. 222. Tenconi, E., Degortes, D., Clementi, M., Collantoni, E., Pinato, C., Forzan, M., Cassina, M., Santonastaso, P., Favaro, A. Clinical and genetic correlates of decision making in anorexia nervosa. Journal of Clinical and Experimental Neuropsychology, 2016;38:327-37. 221. Cassina, M., Ruol, M., Pertile, R., Midrio, P., Piffer, S., Vicenzi, V., Saugo, M., Stocco, C.F., Gamba, P., Clementi, M. Prevalence, characteristics, and survival of children with esophageal atresia: A 32-year population-based study including 1,417,724 consecutive newborns. Birth Defects Research Part A - Clinical and Molecular Teratology, . 2016; 106:542-8 220. Virzì, G.M., Manani, S.M., Cantaluppi, V., Brocca, A., de Cal, M., Tantillo, I., Mason, G., Ramponi, F., Berti, S., Crepaldi, C., Clementi, M., Ronco, C. The role of cell-free plasma DNA in peritoneal dialysis patients with peritonitis. Peritoneal Dialysis International. 2015;35:755-8. 219. Kuechler A, Zink AM, Wieland T, Lùdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlech J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kaeiminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Loss of function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. European Journal of Human Genetics. 2015;23:753-60. 218. Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Cristina Diglio M, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. p.Arg1809Cys substitution in neurofibromin is associated with a distintive NF1 phenotype without neurofibromas. European Journal of Human Genetics. 2015;23:1068-71. 217. Trevisson E, Ludwig K, Casarin A, DiMeglio A, Greggio NA, Manara R, Lenzini E, Clementi M, Salviati L Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome. J Dermatol Sci. 2015;78:158-60. 216. Clementi A, Virzì GM, Brocca A, De Cal M. Pastori S, Clementi M, Granata A, Vescovo G, Ronco C, Advances in the phathogenesis of cardiorenal syndrome type 3. Oxid Med Cell Longev. 2015;2015:148082. doi: 10.1155/2015/148082

215.Trevisson E, Clementi M, Salviati L, Is There a link between COQ6 and schwannomatosis?. GenetMed. 2015;17:312-3.

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214. Giorgi G, Casarin A, Trevisson E, Donà M, Cassina M, Graziano C, Picci L, Clementi M, Salviati L.

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene

splicing assay. Clin. Chem. Lab. Med. 2015;53:1719-23.

213. Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M. FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome. Am J Med Genet A. 2015;167:1418-20. 212. Winterfeld, U; Klinger, G; Panchaud, A; Stephens, S; Arnon, J; Malm, H; te Winkel, B; Clementi M; Pistelli, A; Manáková, E; Eleftheriou, G; Merlob, P; Kaplan, Y]; Buclin, T; Rothuizen, L . Pregnancy outcome following maternal exposure to mirtazapine. Journal of Clinical Psychopharmacology 2015;35:250-9. 211. Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas, P, Zuffardi O, Salviati L, Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

European Journal of Human Genetics. 2015;23:1254-8. 210. Parrozzani R, Clementi M, Frizziero L, Miglionico G, Perrini P, Cavarzeran F, Kotsafti O, Comacchio F, Trevisson E, Convento E, Fusetti S, Midena E, In vivo detection of Choroidal abnormalities related to NF1: Feasibility and comparison with standard NIH diagnostic criteria in pediatric patients. Investigative ophthalmology and Visual Science. 2015;56:6036-42.

209. Zanetti A, Tomanin R, Rampazzo A, Rigon C, Gasparotto N, Cassina M, Clementi M, Scarpa M. A Hunter Patient with a Severe Phenotype Reveals Two Large Deletions and Two Duplications Extending 1.2 Mb Distally to IDS Locus.

Journal of inherited metabolic disorders reports Case and research reports. 2014;17:13-21. 208. Semenza C, Meneghello F, Arcara G, Burgio F, Gnoato F, Facchini S, Benavides-Varela S,Clementi M, Butterworth B. A new clinical tool for assessing numerical abilities in neurological diseases: numerical activities of daily living.

Frontiers in Aging Neuroscience. 2014;6:112. 207. Weber-Schoendorfer C, Chambers C, Wacker E, Beghin D, Bernard N;Network of French Pharmacovigilance Centers, Shechtman S, Johnson D, Cuppers-Maarschalkerweerd B, Pistelli A, Clementi M, Winterfeld U, Eleftheriou G, Pupco A, Kao K, Malm H, Elefant E, Koren G, Vial T, Ornoy A, Meister R, Schaefer C. Pregnancy outcome after methotrexate treatment for rheumatic disease prior to or during early pregnancy: a prospective multicenter cohort study.Arthritis Rheumatology. 2014; 66:1101-10. 206. Cassina M, Donà M, Di Gianantonio E, Litta P, Clementi M. First-trimester exposure to metformin and risk of birth defects: a systematic review and meta-analysis. Human Reproduction Update. 2014;20:656-69. 205. Favaro A, Manara R, Pievani M, Clementi M, Forzan M, Bruson A, Tenconi E, Degortes D, Pinato C, Giannunzio V, Battista Frisoni G, Santonastaso P Neural signatures of the interaction between the 5-HTTLPR genotype and stressful life events in healthy women. Psychiatry Research. 2014;223:157-63. 204.Trevisson E, Forzan M, Salviati L, Clementi M. Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism. Clinical Genetics. 2014;85:386-9. 203. Virzì GM, Bruson A, Corradi V, Gastaldon F, de Cal M, Donà M, Cruz DN, Clementi M, Ronco C High-Resolution Melt as a Screening Method in Autosomal Dominant Polycystic Kidney Disease (ADPKD). Journal of Clinical Laboratory Analysis. 2014;28:328-34.

202. Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H,

Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet RA,

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Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Hellard SL, Mattingsda M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Courtet P, Guillame S, Jaussent I, Barrett JC, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM, Anderson CA, Barrett JC, Floyd JA, Franklin CS, McGinnis R, Soranzo N, Zeggini E, Sambrook J, Stephens J, Ouwehand WH, McArdle WL, Ring SM, Strachan DP, Alexander G, Bulik CM, Collier DA, Conlon PJ, Dominiczak A, Duncanson A, Hill A, Langford C, Lord G, Maxwell AP, Morgan L, Peltonen L, Sandford RN, Sheerin N, Soranzo N, Vannberg FO, Barrett JC, Genotyping DN, Blackburn H, Chen WM, Edkins S, Gillman M, Gray E, Hunt SE, Langford C, Nengut-Gumuscu S, Potter S, Rich SS, Simpkin D, Whittaker P, Sullivan PF, Bulik CM, Collier DA, Tyler-Smith C, Zeggini E, Tachmazidou I Using ancestry-informative markers to identify fine structure across 15 populations of European origin.GCAN. European Journal Human Genetics 2014;22:1190-200. 201. Boraska V, Franklin CS, Floyd JA, Thornton LM, Huckins LM, Southam L, Rayner NW, Tachmazidou I, Klump KL, Treasure J, Lewis CM, Schmidt U, Tozzi F, Kiezebrink K, Hebebrand J, Gorwood P, Adan RA, Kas MJ, Favaro A, Santonastaso P, Fernández-Aranda F, Gratacos M, Rybakowski F, Dmitrzak-Weglarz M, Kaprio J, Keski-Rahkonen A, Raevuori A, Van Furth EF, Slof-Op ‘t Landt MC, Hudson JI, Reichborn-Kjennerud T, Knudsen GP, Monteleone P, Kaplan AS, Karwautz A, Hakonarson H, Berrettini WH, Guo Y, Li D, Schork NJ, Komaki G, Ando T, Inoko H, Esko T, Fischer K, Männik K, Metspalu A, Baker JH, Cone RD, Dackor J, Desocio JE, Hilliard CE, O’Toole JK, Pantel J, Szatkiewicz JP, Taico C, Zerwas S, Trace SE, Davis OS, Helder S, Bühren K, Burghardt R, de Zwaan M, Egberts K, Ehrlich S, Herpertz-Dahlmann B, Herzog W, Imgart H, Scherag A, Scherag S, Zipfel S, Boni C, Ramoz N, Versini A, Brandys MK, Danner UN, de Kovel C, Hendriks J, Koeleman BP, Ophoff RA, Strengman E, van Elburg AA, Bruson A, Clementi M, Degortes D, Forzan M, Tenconi E, Docampo E, Escaramís G, Jiménez-Murcia S, Lissowska J, Rajewski A, Szeszenia-Dabrowska N, Slopien A, Hauser J, Karhunen L, Meulenbelt I, Slagboom PE, Tortorella A, Maj M, Dedoussis G, Dikeos D, Gonidakis F, Tziouvas K, Tsitsika A, Papezova H, Slachtova L, Martaskova D, Kennedy JL, Levitan RD, Yilmaz Z, Huemer J, Koubek D, Merl E, Wagner G, Lichtenstein P, Breen G, Cohen-Woods S, Farmer A, McGuffin P, Cichon S, Giegling I, Herms S, Rujescu D, Schreiber S, Wichmann HE, Dina C, Sladek R, Gambaro G, Soranzo N, Julia A, Marsal S, Rabionet R, Gaborieau V, Dick DM, Palotie A, Ripatti S, Widén E, Andreassen OA, Espeseth T, Lundervold A, Reinvang I, Steen VM, Le Hellard S, Mattingsdal M, Ntalla I, Bencko V, Foretova L, Janout V, Navratilova M, Gallinger S, Pinto D, Scherer SW, Aschauer H, Carlberg L, Schosser A, Alfredsson L, Ding B, Klareskog L, Padyukov L, Courtet P, Guillaume S, Jaussent I, Finan C, Kalsi G, Roberts M, Logan DW, Peltonen L, Ritchie GR, Barrett JC; The Wellcome Trust Case Control Consortium 3, Estivill X, Hinney A, Sullivan PF, Collier DA, Zeggini E, Bulik CM. A genome-wide association study of anorexia nervosa. Molecular Psychiatry 2014;19:1085-94. 200. Paul BM, Consugar MB, Ryan Lee M, Sundsbak JL, Heyer CM, Rossetti S, Kubly VJ, Hopp K, Torres VE, Coto E, Clementi M, Bogdanova N, De Almeida E, Bichet DG, Harris PC. Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families

Kidney International. 2014;85:383-92.

199. Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, Bresin E, Giachino D, De Marchi M, Mari F, Bruttini M, Renieri A, Ariani F. Unbiased Next Generation Sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. Clinical Genetics. 2014;86:252-7. 198. Parrozzani R, Clementi M, Kotsafti O, Miglionico G, Trevisson E, Orlando G, Pilotto E, Midena E. Optical coherence tomography in the diagnosis of optic pathway gliomas Investigative Ophthalmology & Visual Science 2013;54:8112-8. 197. Bruson A, Zattra E, Zonta E, Cassina M, Baldo V, Clementi M, Alaibac M. Analysis of p53 polymorphisms in individuals with multiple melanocytic nevi. European Journal of Dermatology. 2013;23:280-1. 196. Cassina M, Dilaghi A, Di Gianantonio E, Cesari E, De Santis M, Mannaioni G, Pistelli A, Maurizio Clementi. Pregnancy outcome in women exposed to antiepileptic drugs: Teratogenic role of maternal epilepsy and its pharmacologic treatment.

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Reproductive toxicology. 2013;39:50-7.

195 Winterfeld U, Allignol A, Panchaud A, Rothuizen LE, Merlob P, Cuppers-Maarschalkerweerd B, Vial T, Stephens S, Clementi M, De Santis M, Pistelli A, Berlin M, Eleftheriou G, Maňáková E, Buclin T. Authors’ response to: Statins in pregnancy: Safety and perspectives of therapeutic applications. An International Journal of Obstetrics and Gynaecology, 2013;120:1440. 194. Morcaldi G, Clementi M, Lama G, Gabrielli O, Vannelli S, Virdis R, Vivarelli R, Boero S, Bonioli E. Evaluation of Tibial Osteopathy Occurrence in Neurofibromatosis Type 1 Italian Patients. American Journal of Medical Genetics 2013;161A:927-34. 193 Cassina M, Donà M, Di Gianantonio E, Clementi M. Pharmacologic treatment of hyperthyroidism during pregnancy. Birth Defects Research Part A Clinical and Molecular Teratology. 2012;94:612-9. 192. De Palma L, Boniver C, Cassina M, Toldo I, Nosadini M, Clementi M, Sartori S. Eating-induced epileptic spasms in a boy with MECP2 duplication syndrome: insights into pathogenesis of genetic epilepsies. Epileptic disorders: international epilepsy journal with videotape 2012;14:414-7. 191. Winterfeld U, Allignol A, Panchaud A, Rothuizen LE, Merlob P, Cuppers-Maarschalkerweerd B, Vial T, Stephens S, Clementi M, De Santis M, Pistelli A, Berlin M, Elefteriou J, Maňáková E, Buclin T Pregnancy outcome following maternal exposure to statins: a multicentre prospective study. BJOG: an international journal of obstetrics and gynaecology 2012;120:463-71. 190. Favaro A, Clementi M, Manara R, Bosello R, Forzan M, Bruson A, Tenconi E, Degortes D, Titton F, Di Salle F, Santonastaso P. Catechol-O-methyltransferase genotype modifies executive functioning and prefrontal functional connectivity in women with anorexia nervosa. Journal Psychiatry Neuroscience. 2012;38:241-8 189. Cassina M, Salviati L, Di Gianantonio E, Clementi M. Genetic susceptibility to teratogens: State of the art. Reproductive Toxicology. 2012;34:186-91. 188. De Sanctis V, Tosetto I, Iughetti L, Antoniazzi F, Clementi M, Toffolutti T, Facchin P, Monti E, Pisanello L, Tonini G, Greggio NA. The shox gene and the short stature. Roundtable on diagnosis and treatment of short stature due to shox haploinsufficiency: how genetics, radiology and anthropometry can help the pediatrician in the diagnostic. Process Padova April 20th, 2011. Pediatric Endocrinology Reviews (PER) 2012;9:627-34. 187. Bar-Oz B, Weber-Schoendorfer C, Berlin M, Clementi M, Di Gianantonio E, de Vries L, De Santis M, Merlob P, Stahl B, Eleftheriou G, Maňáková E, Hubičková-Heringová L, Youngster I, Berkovitch M. The outcomes of pregnancy in women exposed to the new macrolides in the first trimester: a prospective, multicentre, observational study.

Drug Safety: an international journal of medical toxicology and drug experience. 2012;35:589-98.

186. Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, Davidson MM, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L. Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations. Orphanet Journal Rare Disease. 2012;7:21. 185. Novelli A, Grati F R, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone A M, Pecile V, Simoni G, Zuffardi O, Giardino D. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Reply. Ultrasound in Obstetrics & Gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2012;39:600-6.

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184. Bruson A, Sambataro F, Querin G, D'Ascenzo C, Palmieri A, Agostini J, Gaiani A, Angelini C, Galbiati M, Poletti A, Pennuto M, Pegoraro E, Clementi M, Soraru G. CAG repeat length in androgen receptor gene is not associated with amyotrophic lateral sclerosis. European Journal Neurology. 2012;19:1373-5. 183. Hoeltzenbein M, Elefant E, Vial T, Finkel-Pekarsky V, Stephens S, Clementi M, Allignol A, Weber-Schoendorfer C, Schaefer C. Teratogenicity of mycophenolate confirmed in a prospective study of the European Network of Teratology Information Services. American Journal of Medical Genetics A. 2012;158A:588-96. 182. Novelli A, Grati FR, Ballarati L, Bernardini L, Bizzoco D, Camurri L, Casalone R, Cardarelli L, Cavalli P, Ciccone R, Clementi M, Dalprà L, Gentile M, Gelli G, Grammatico P, Malacarne M, Nardone AM, Pecile V, Simoni G, Zuffardi O, Giardino D. Microarray application in prenatal diagnosis: a position statement from the cytogenetics working group of the Italian Society of Human Genetics (SIGU), November 2011. Ultrasound in Obstetrics & Gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2012;39:384-8. 181 Artuso R, Fallerini C, Dosa L, Scionti F, Clementi M, Garosi G, Massella L, Epistolato MC, Mancini R, Mari F, Longo I, Ariani F, Renieri A, Bruttini M. Advances in Alport syndrome diagnosis using next-generation sequencing. European Journal Human Genetics 2012;20:50-7. 180. Orioli IM, Amar E, Arteaga-Vazquez J, Bakker MK, Bianca S, Marengo L, Clementi M, Correa A, Botto LD, Leoncini E, Lowry RB, Martínez-Frías ML, Mastroiacovo P, Morgan M, Pierini A, Ritvanen A, Scarano G, Szabova E, Csaky-Szunyogh M, Castilla EE. Sirenomelia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review. American Journal of Medical Genetics C Seminars in medical genetics.. 2011;157C:358-73. 179. Orioli IM, Amar E, Bakker MK, Béres J, Bianchi F, Canfield MA, Clementi M, Correa A, Botto LD, Landau D, Leoncini E, Li Z, López-Camelo GS, Lowry RB, Bermejo-Sánchez E, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Cyclopia: An epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. American Journal of Medical Genetics part C,Seminar in Medical Genetics 2011;157C:344-57. 178. Mutchinick OM, Luna-Muñoz L, Amar E, Bakker MK, Clementi M, Cocchi G, Dutra MG, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry B, Marengo LK, Martínez-Frías ML, Mastroiacovo P, Métneki J, Morgan M, Pierini A, Rissman A, Ritvanen A, Scarano G, Siffel C, Szabova E, Arteaga-Vázquez J. Conjoined Twins: A Worldwide Collaborative Epidemiological Study of the International Clearinghouse for Birth Defects Surveillance and Research. American Journal of Medical Genetics part C Seminars in Medical Genetics. 2011;157C:274-87. 177. Bermejo-Sánchez E, Cuevas L, Amar E, Bianca S, Bianchi F, Botto LD, Canfield MA, Castilla EE, Clementi M, Cocchi G, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías M-L. Phocomelia: A worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:305-20. 176. Bermejo-Sánchez E, Cuevas L, Amar E, Bakker MK, Bianca S, Bianchi F, Canfield MA, Castilla EE, Clementi M, Cocchi G, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Siffel C, Szabova E, Martínez-Frías M-L. Amelia: A multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:288-304. 175. Botto LD, Feldkamp ML, Amar E, Carey JC, Castilla EE, Clementi M, Cocchi G, de Walle HE, Halliday J, Leoncini E, Li Z, Lowry RB, Marengo LK, Martínez-Frías ML, Merlob P, Morgan M, Muñoz LL, Rissmann A, Ritvanen A, Scarano G, Mastroiacovo P. Acardia: epidemiologic findings and literature review from the International Clearinghouse of Birth Defects

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Surveillance and Research. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:262-73. 174. Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. Cloacal Exstrophy: An Epidemiologic Study from the International Clearinghouse of Birth Defects Surveillance and Research. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:333-43. 173. Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csaky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. Bladder Exstrophy: An Epidemiologic Study from the International Clearinghouse for Birth Defects Surveillance and Research, and an Overview of the Literature. American of Journal Medical Genetics part C Seminnars in Medical Genetics. 2011;157C:321-32. 172 Drera B, Zoppi N, Ritelli M, Barlati S, Colombi M, Tadini G, Venturini M, Calzavara-Pinton P, Wischmeijer A, Nicolazzi MA, Musumeci A, Penco S, Buscemi L, Crivelli S, Danesino C, Clementi M, Viglio S, Valli M. Diagnosis of vascular Ehlers-Danlos syndrome in Italy: Clinical findings and novel COL3A1 mutations. Journal Dermatol Sci. 2011;64:237-40. 171. Toldo I, Bruson A, Casarin A, Salviati L, Boniver C, Sartori S, Montagna P, Battistella PA, Clementi M Polymorphisms of SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage? Journal of Headache and Pain, 2011;12:435-41.

170 . Sorarù G, Clementi M, Forzan M, Orsetti V, D'Ascenzo C, Querin G, Palmieri A, Ermani M, Angelini C,

Pegoraro E. ALS risk but not phenotype is affected by ataxin-2 intermediate length polyglutamine expansion. Neurology, 2011;76:2030-1. 169. Diav-Citrin O, Shechtman S, Halberstadt Y, Finkel-Pekarsky V, Wajnberg R, Arnon J, Di Gianantonio E, Clementi M, Ornoy A. Pregnancy outcome after in utero exposure to angiotensin converting enzyme inhibitors or angiotensin receptor blockers. Reproductive Toxicology 2011;31:540-5. 168. Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Cirillo Silengo M, Reymond A, Gumiero B, Zucchetti F, D’Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L and Merla G. Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet Journal Rare Disease. 2011;9:6-38. 167. Vecchi M, Cassina M, Casarin A, Rigon C, Drigo P, De Palma L, Clementi M. Infantile epilepsy associated with mosaic 2q24 duplication including SCN2A and SCN3A. Seizure. 2011;20:813-6. 166. Westermark K, Byskov Holm B, Söderholm M, Llinares-Garcia J, Rivière F, Aarum S, Butlen-Ducuing F, Tsigkos S, Wilk-Kachlicka A, N'Diamoi C, Borvendég J, Lyons D, Sepodes D, Bloechl-Daum B, Lhoir A, Mariana Todorova, Ioannis Kkolos, Kateřina Kubáčková, Heidrun Bosch-Traberg, Vallo Tillmann, Veijo Saano, Emmanuel Héron, Rembert Elbers, Miranda Siouti, Judit Eggenhofer, Patrick Salmon, Maurizio Clementi, Dainis Krieviņš, Aušra Matulevičiene, Henri Metz, Albert Cilia Vincenti, Albertha Voordouw, Bożenna Dembowska-Bagińska, Ana Corrêa Nunes, Flavia Mirela Saleh, Tatiana Foltánová, Martin Možina, Josep Torrent i Farnell, Björn Beerman, Segundo Mariz, Marie Pauline Evers, Lesley Greene, Sigurdur Thorsteinsson, Lars Gramstad, Maria Mavris, Fabrizia Bignami, Annie Lorence, Belorgey C. European regulation on orphan medicinal products: 10 years of experience and future perspectives. Nature Reviews Drug Discovery 2011;10:341-9. 165. Rigon C, Salviati L, Mandarano R, Donà M, Clementi M.

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6q27 subtelomeric deletions: Is there a specific phenotype? Am J Med Genet A. 2011;155:1213-4. 164. Virzì GM, Corradi V, Panagiotou A, Gastaldon F, N. Cruz D, de Cal M, Clementi M, and Ronco C. ADPKD: Prototype of Cardiorenal Syndrome Type 4. Intenational Journal Nephrology. 2010;2011:490795. 163 Wijers CH, de Blaauw I, Marcelis CL, Wijnen RM, Brunner H, Midrio P, Gamba P, Clementi M, Jenetzky E, Zwink N, Reutter H, Bartels E, Grasshoff-Derr S, Holland-Cunz S, Hosie S, Märzheuser S, Schmiedeke E, Crétolle C, Sarnacki S, Levitt MA, Knoers NV, Roeleveld N, van Rooij IA. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations. Pediatr Surg Int. 2010;26:1093-9 162. Clementi M, Di Gianantonio E, Cassina M, Leoncini E, D. Botto L, Mastroiacovo P, and the SAFE-Med Study Group. Treatment of Hyperthyroidism in Pregnancy and Birth Defects. Journal. Clinical. Endocrinology. Metab. 2010;E337-41 161. Cassina M, Di Gianantonio E, Toldo I, Battistella PA, Clementi M. Migraine therapy during pregnancy and lactation. Expert opinion on drug safety.. 2010;9:937-48. 160. D'Antona D, Ambrosini G, Andrisani A, Raffagnato F, Di Gianantonio E, Clementi M. Pregnancy in immigrants: Are we doing the best we can? European Journal of Obstetrics & Gynecology and Reproductive Biology. 2009;149:122-3. 159. Cassina M, De Santis M, Cesari E, van Eijkeren M, Berkovitch M, Eleftheriou G, Raffagnato F, Di Gianantonio E, Clementi M. First trimester diclofenac exposure and pregnancy out come. Reproductive Toxicology 2010;30:401-4. 158. Losada I, Sartori L, Di Gianantonio E, Clementi M, Doria A Bisphosphonates in patients with autoimmune rheumatic diseases: Can they be used in women of childbearing age? Autoimmunity reviews. v. 2010;9:547-52. 157. Grati FR, Barlocco A, Grimi B, Milani S, Frascoli G, Di Meco AM, Liuti R, Trotta A, Chinetti S, Dulcetti F, Ruggeri AM, De Toffol S, Clementi M, Maggi F, Simoni G. Chromosome abnormalities investigated by non-invasive prenatal testing account for approximately 50% of fetal unbalances associated with relevant clinical phenotypes. American Journal of Medical Genetics, 2010;152A:1434-42. 156. Toldo I, Perissinotto E, Menegazzo F, Boniver C, Sartori S, Salviati L, Clementi M, Montagna P, Battistella PA. Comorbidity between headache and epilepsy in a pediatric headache center. Journal headache Pain, 2010;11:235-40. 155. Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Is CFTR 621+3°>G a cystic fibrosis causino mutation? Journal of Human Genetics. 2010;55:23-6. 154. Casarin A, Rusalen F, Doimo M, Trevisson E, Carraro S, Clementi M, Tenconi R, Baraldi E, Salviati L. X-linked brachytelephalangic chondrodysplasia punctata: a simple trait that is not so simple. American Journal of Medical Genetics A. 2009;149A:2464-8. 153. Cassina M, Fabris L, Okolicsanyi L, Gervasi MT, Memmo A, Tiboni GM, Di Gianantonio E, Clementi M. Therapy of inflammatory bowel diseases in pregnancy and lactation.

Expert opinion on drug safety. 2009;8:695-707.

152. Corradi V, Gastaldon F, Virzì GM, de Cal M, Soni S, Chionh C, Cruz DN, Clementi M, Ronco C. Clinical pattern of adult polycystic kidney disease in a North Eastern region of Italy. Clinical Nephrology 2009;72:259-67. 151. Rigon C, Andrisani A, Forzan M, D'Antona D, Bruson A, Cosmi E, Ambrosini G, Tiboni GM, Clementi M.

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Association study of AMH and AMHRII polymorphisms with unexplained infertility. Fertil Steril. 2010;94:1244-8. 150. Clementi M, Cassina M, Di Gianantonio E. Medications in Pregnancy and lactation. Comment on Medications in pregnancy and lactation: part 1. Teratology. Obstetrics and Gynecology, 2009;114:166. 149. Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garrè M, Clementi M, Bianchi-Scarrà G. Identification of a SUFU Germline Mutation in a Family with Gorlin Sindrome. American Journal of Medical Genetics. Part A. 2009;149A:1539-43. 148. De Santis M, Di Gianantonio E, Cesari E, Ambrosiani G, Straface G, Clementi M First-trimester Itraconazole Exposure and pregnancy outcome. A prospective cohort study of women contacting teratology Information Services in Italy. Drug Safety 2009;32:239-44. 147. Ruggieri M, Iannetti P, Clementi M, Polizzi A, Incorpora G, Spalice A, Pavone P, Pratico AD, Elia M,Gabriele AL, Tenconi R, Pavone L. Neurofibromatosis type 1 and infantile spasms. Childs Nervous System, 2009;25:211-6. 146. Diav-Citrin O, Shechtman S, Weinbaum D, Wajnberg R, Avgil M, Di Gianantonio E, Clementi M, Weber-Schoendorfer C, Schaefer C, Ornoy A Paroxetine and fluoxetine in pregnancy: a prospective, multicentre, controlled, observational study. British Journal of Clinical Pharmacology, 2008;66:695-705. 145. Mantovani A, Maranghi F, La Rocca C, Tiboni GM, Clementi M The role of toxicology to characterize biomarkers for agrochemicals with potential endocrine activities. Reproductive Toxicology, 2008: 26: 1-7 IF 2.362 144. Clementi M, Tiboni GM, Causin R, , La Rocca C, Maranghi F, Raffagnato F, Tenconi R Pesticides and fertility: an epidemiological study in Northeast Italy and review of the literature. Reproductive Toxicology, 2008;26:13-8. IF 2.362 143. Schaefer C, Ornoy A, Clementi M, Meister R, Weber-Schoendorfer C Using observational cohort data for studying drug effects on pregnancy outcome – Methodological considerations. Reproductive Toxicology, 2008;26:36-41. IF 2.362 142. Weber-Schoendorfer C, Hannemann D, Meister R, Elefant E, Cuppers-Maarschalkerweerd B, Arnon J, Vial T, Rodriguez-Pinilla E, Clementi M, Robert-Gnancia E, De Santis M, Malm H, Dolivo A, Schaefer C. The safety of calcium channel blockers during pregnancy: a prospective, multicenter, observational study. Reproductive Toxicology, 2008;26:24-30. IF 2.362 141. Clementi M, Causin R, Marzocchi C, Mantovani A, Tenconi R. A study of the impact of agricultural pesticide use on the prevalence of birth defects in northeast Italy. Reproductive Toxicology, 2007;24:1-8. IF 2.362 140. Goldstein LH, Dolinsky G, Grreenberg R, Schaefer C, Cohen-Kerem R, Diav-Citrim O, Malm H, Reuvers-Lodewijks ME, Rost van Tonningen-van Driel MM, Arnon J, Ornoy A, Clementi M, Di Gianantonio E, Koren G, Braunstein R, Berkovitch M. Pregnancy outcome of women exposed to Azathioprine during Pregnancy. Birth Defects Research (Part A) 2007; 6:701. IF: 2,005 139. Dalla Via P, Opocher E, Pinello ML, Calderone M, Viscardi E, Clementi M, Battistella PA, Laverda AM, Da Dalt L, Perilongo G. Visual outcome of a cohort of children with neurofibromatosis type 1 and optic pathway glioma followed by a pediatric neuro-oncology program. Neuro-oncology 2007;9:430-7. IF 4,185 138. Tartaglia S, Belloni-Fortina A, Piaserico S, Tessari G, Naldi L, Tenconi R, Clementi M The+61 A-G polymorphism of the Epidermal Growth Factor gene is not associated with occurrence of non-melanocytic skin tumors in transplant recipients. Journal Dermatological Science, 2007;46:147-9.

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137. Clementi M, Di Gianantonio E, Fabris L, Forabosco P, Strazzabosco M, Tenconi R, Okolicsanyi L. Inheritance of hyperbilirubinemia: evidence for a major autosomal recessive gene. Digestive and Liver Disease 2007;39: 351-5. IF: 2.000 136. Lisi V, Paternoster DM, Stecca A, Micciche F, Fantinato S, Leon A, D’Amante G, Fabbro D, Clementi M Investigation of endothelin-1 type A receptor gene polymorphism (-231 G > A) in preeclampsia susceptibility. Journal Of Maternal-Fetal & Neonatal Medicine 2007;20:145-9. 135. Goldwurm S, Zini M, Mariani L, Tesei S, Miceli R, Sironi F, Clementi M, Bonifati V, Pezzoli G. Evaluation of LRRK2 G2019S penetrance: relevance for genetic counseling in Parkinson disease Neurology 2007;68:1141-3. IF:5,690 134. Clementi M. Special Issue: Introduction 34th Annual Conference of the European Teratology, Society. Reproductive Toxicology. 2006;22:125. IF: 2,362 133. Midrio P, Delle Nogare CD, Di Gianantonio E, Clementi M. Are congenital anorectal malformations more frequent in newborns, conceived with assisted reproductive techniques? Reproductive Toxicology. 2006;22:576-7. IF: 2,362 132. Clementi M, Di Gianantonio Elena. Therapeutic drug monitoring of antithyroid drugs in pregnancy: The knowledge gaps. Therapeutic Drug Monitoring. 2006;28:576. IF:3.032 131. Ostensen M, Khamashta M, Lockshin M, Parke A, Brucato A, Carp H, Doria A, Rai R, Meroni P, Cetin I, Derksen R, Branch W, Motta M, Gordon C, Ruiz-Irastorza G, Spinillo A, Friedman D, Cimaz R, Czeizel A, Piette JC, Cervera R, Levy RA, Clementi M, De Ca. Anti-inflammatory and immunosuppressive drugs and reproduction. Arthritis Research Therapy. 2006;8:209- 318. IF:3,801 130. Furlan A, Vianello F, Clementi M, Prandoni P. Heparin- induced thrombocytopenia occurring in the first trimester of pregnancy: successful treatment with lepirudin. A case report. Haematologica-the Hematology. 2006;91:19-20. IF:5.032 129. Schaefer C, Hannemann D, Meister R, Eléfant E, Paulus W, Vial T, Reuvers M, Robert-Gnansia E, Arnon J, De Santis M, Clementi M, Rodriguez-Pinilla E, Dolivo A, Merlob P. Vitamin K antagonists and pregnancy outcome. Thrombosis and Haemostasis. 2006;95:949-57. IF:2.803 128. Clementi M, Di Gianantonio E, Ponchia R, Petrella M, Andrisani A, Tenconi R . Pregnancy outcome after genetic counselling for prenatal diagnosis of unexpected chromosomal anomaly. European Journal of Obstetrics Gynecology Reproductive Biology. 2006;128:77-80. IF:1,273 127. Lisi, V, Garbo G, Battistella PA, Micciche F, Stecca A, Terrazzino S, Franzoi M, Tripoli E, Leon A, Clementi M. Endothelin receptor A -231 G. A polymorphism: No linkage to primary paediatric headache. Headache. 2006;46:486-91. IF:2,740 126. Lisi, V, Garbo G, Micciche F, Stecca A, Terrazzino S, Franzoi M, Tripoli E, Clementi M, Leon A, Battistella PA. Genetic risk factors in primary pediatric versus adult headache: complexities and problematics. Journal of Headache and Pain. 2005;6:179-181. 125. Clementi M. Di Gianantonio E. Genetic susceptibility to infectious diseases. Reproductive toxicology . 2006;21:345-9. IF: 2,362 124. Castori M, Valente EM, Clementi M, Tormene AP, Brancati F, Caputo V, Dallapiccola B. A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies. Investigative Ophthalmology Visual Science. 2005;46:3539-44. IF:3,766 123. Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.

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Transmission ratio distortion in the spinal muscular atrophy locus - Data from 314 prenatal tests. Neurology. 2005;65:1631-5. IF:5,690 122. De Santis M, Di Gianantonio E, Straface G, Cavaliere AF, Caruso A, Schiavon F, Berletti R, Clementi M. Ionizing radiations in pregnancy and teratogeneis – A review of literature. Reproductive toxicology. 2005;20:323-9. IF:2,362 121. Wiesel A, Queisser-Luft A, Clementi M, Bianca S, Stoll C. Prenatal detection of congenital renal malformations by fetal ultrasonographic examination: An analysis of 709,030 births in 12 European countries. European Journal of Medical Genetics. 2005;48:131-44. IF: 1.614 120. Bar-Oz B, Clementi M, Giantonio ED, Greenberg R, Beer M, Merlob P, Arnon J, Ornoy A, Zimmerman DM, Berkovitch M. Metamizol (dipyrone, optalgin) in pregnancy, is it safe? A prospective comparative study. European Journal of Obstetrics Gynecology Reproductive Biology. 2005;119:176-9 . IF:1,273 119. Diav-Citrin O, Shechtman S, Ornoy S, Arnon J, Schaefer C, Garbis H, Clementi M, Ornoy A. Safety of Haloperidol and Penfluridol in Pregnancy: A Multicenter, Prospective, Controlled Study. Journal of Clinical Psychiatry. 2005; 66:317-22 . IF:5,533 118. D. Wellesley, C. De Vigan, N. Baena, E. Cariati, C. Stoll, P.A. Boyd, M. Clementi. Contribution of ultrasonographic examination to the prenatal detection of trisomy 21: experience from 19 European registers. Annales de Génétique. 2004;47:373-80. IF:0,967 117. Garbis H, Elefant E, Diav-Citrin O, Mastroiacovo P, Schaefer C, Vial T, Clementi M, Valti E, McElhatton P, Smorlesi C, Pinilla Rodriguez E, Robert-Gnansia E, Merlob P, PeikeR G, Pexieder T, Schueler L, Ritvanen A, Mathieu-Nolf M. Pregnancy outcome after exposure to ranitidine and other H2-blockers A collaborative study of the European Network of Teratology Information Services. Reproductive Toxicology. 2005;19:453-8. IF: 2,362 116. Diav Citrin O, Arnon J, Shechtman S, Schaefer C, Tonningen MR, Clementi M, Santis M, Robert Gnansia E, Valti E, Malm H, Ornoy A. The safety of proton pump inhibitors in pregnancy: a multicentre prospective controlled study. Alimentary Pharmacology and Therapeutics. 2005;21:269-75. IF:3,287 115. Clementi M, Bianca S., Tenconi R. Parity and the risk of Down’s syndrome. Reply. Letter to the editor. American Journal of Epidemiology. 2004;160:61. IF:5,241 114. Gervasini C, Venturin M, Orzan F, Friso A, Clementi M, Tenconi R, Larizza L, Riva P . Uncommon Alu-mediated nf1 microdeletion with a breakpoint inside the NF1 gene. Genomics. 2005;85:273-9. IF:3,558 113. Baena N, De-Vigan C, Cariati E, Clementi M, Stoll C, Caballin MR, Guitart M. Turner syndrome: Evaluation of prenatal diagnosis in 19 European registries. American Journal of Medical Genetics part-A. 2004;129A:16-20. IF:2.087 112. Venturin M, Guarnieri P, Natacci F, Stabile M, Tenconi R, Clementi M, Hernandez C, Thompson P, Upadhyaya M, Larizza L, Riva P. Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2. Journal of Medical Genetics. 2004;41:35-41 . IF:5.087 111. Pramparo T, Gregato G, De gregari M, Friso A, Clementi M, arenghi P, Rocchi M, Zuffardi O, Tenconi R. Reciprocal translocation associated with multiple exostoses in seven members of a three generation family and discovered through an infertile male. American Journal of Medical Genetics part A. 2003;123A:79-83. IF:2.063 110. Mammi I, Basile RT, Bellato S,Belli S, Benedicenti F, Boni S, Castellan C, Clementi M, Di Gianantonio E, Petrella M, Turolla L, Tenconi R. Utilization of genetic counseling by parents of a child or fetus with congenital malformation in north-East Italy. American Journal of Medical Genetics part A. 2003;121A:214-8. IF:2.063

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109. Stoll C, Clementi M. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe. Ultrasound in Obstetrics and Gynecology. 2003;21:543-51. IF:2,288 108. N. Baena, C. De Vigan, E. Cariati, M. Clementi, C. Stoll, M.R. Caballin, M. Guitart. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. American Journal of Medical Genetics. 2003;118:319-27. IF:3,659 107. Mason S, Pepe G, Dall’Amico R, Tartaglia S, Casciani S, Greco M, Bencivegna P, Murer L, Rizzoni GF, Tenconi R, Clementi M. Mutational spectrum of the CTNS gene in Italy. European Journal of Human Genetics. 2003;11:503-8. IF:3,697 106. Clementi M, Giavini E, Mantovani A . Avoidance of bioflavonoid supplements during pregnancy. Lancet. 2003;361:261-2. IF:25.800 105. Stoll C, Tenconi R, Clementi M, and Euroscan group. Detection of congenital anomalies by fetal ultrasonographic examination across Europe. Community Genetics. 2001;4:225-32. IF: 0.984 104. Alfred Cuschieri and EUROCAT Working Group (M Clementi et al.). Anorectal Anomalies Associated With or as Part of Other Anomalies. American Journal of Medical Genetics. 2002;110:122-30. 103. Alfred Cuschieri and EUROCAT Working Group (M Clementi et al.). Descriptive epidemiology of isolated anal anomalies: A survey of 4.6 million births in Europe. American Journal of Medical Genetics. 2001;103:207-15. IF:3,659 102. Clementi M, Di Gianantonio E, Ornoy A. Teratology information services in Europe and their contribution to the prevention of congenital anomalies. Community Genetics. 2002;5:5-7. IF: 0.984 101. Schiaffino MV, Dellambra E, Cortese K, Baschirotto C, Bondanza S, Clementi M, Nucci P, Ballabio A, Tacchetti C, De Luca M. Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes. Human Gene Therapy. 2002;13:947-57. IF:4,514 100. Garne E, Häusler M, Barisic I, Gjergja R, Stoll C, Clementi M. Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions. Ultrasound in Obstetrics and Gynecology. 2002;19:329-33. IF:2,288 99. Haeusler MCH, Berghold A, Stoll C, Barisic I, Clementi M. Prenatal ultrasonographic detection of gastrointestinal obstruction: results from 18 European congenital anomaly registries. Prenatal Diagnosis. 2002;22:616-23. IF:1,64 98. De Vigan C, Baena N, Cariati E, Clementi M, Stoll C. Contribution of ultrasonograhic examination to the prenatal detection of chromosomal abnormalities in 19 centres across Europe. Annales de Genetique. 2001;44:209-17. IF:0,961 97. Clementi M, Stoll C. The EUROSCAN study. Ultrasound Obstet Gynecol. 2001;18:297-300. IF:2,288 96. Di Gianantonio, Schaefer C, Mastroiacovo PP, Cournot MP, Benedicenti F, Reuvers M, Occupati B, Robert E, Bellemin B, Addis A, Arnon J, and Clementi M. Adverse effects of prenatal methimazole exposure. Teratology. 2001;64:262-6. IF:1,981 95. Barisic I, Clementi M, HäuslerM, Kern J and Euroscan group. Evaluation of Prenatal Ultrasound Diagnosis of Fetal Abdominal Wall Defects by 19 European Registries. Ultrasound in Obstetrics and Gynecology. 2001;18:309-16. IF:2,288

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94. Lopez Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. Recombination horspot in NF1 microdeletion paritents. Human Molecular Genetics. 2001;10:1387-92. IF:8.099 93. Bassi MT; Bergen AAB; Bitoun P; Charles SJ; Clementi M; Gosselin R; Hurst J; Lewis RA; Lorenz B; Meitinger T; Messiaen L; Ramesar RS; Ballabio A; Schiaffino MV. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Human Genetics. 2001;108: 51-4. IF:4,331 92. Stoll C, Garne E, Clementi M. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonograhic examination in Europe. Prenatal Diagnosis. 2001;21:243-52. IF:1,64 91. D’Addio M, Pizzigoni A, Baschirotto C, Bassi MT, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Detective intracellular transport and processing of OA1 is a major cause of Ocular Albinism type 1. Human Molecular Genetics. 2000;9:3011-18. IF:8.099 90. Boyd PA, Wellesley DG, De Walle HEK, Tenconi R, Garcia-Minaur S, Zandwijken GRJ, Stolle C, Clementi M. Evaluation of the Prenatal Diagnosis of Neural Tube Defects by fetal ultrasonographic examination in different centres across Europe. Journal of Medical Screening. 2000;7:169-74. IF:1.957 89. Garne E, Stoll C, Clementi M, and Euroscan group. Evaluation of Prenatal Diagnosis of Congenital Heart Diseases by Ultrasound: Experience from 20 European Registries. Ultrasound in Obstetrics and Gynecology. 2001;17:386-91. IF:2,288 88. Stoll C, Wiesel A, Queisser-Luft A, Froster U, Bianca S, Clementi and Euroscan group. Evaluation of the prenatal diagnosis of limb reduction deficiencies. Prenatal Diagnosis. 2000; 20:811-8. IF:1,64 87. Forabosco P, Collins A, Latiano A, Annese V, Clementi M, Andriulli A, Fortina P, Devoto M, Morton NE. Combined Segregation and Linkage Analysis of Inflammatory Bowel Disease in the IBD1 region using Severity to characterise Crohn’s Disease and Ulcerative Colitis. European Journal of Human Genetics. 2000; 8:846-52. IF:3,697 86. Clementi M, Tenconi R, Bianchi F, Stoll C and Euroscan group. Evaluation of Prenatal Diagnosis of Cleft Lip with or without cleft palate and Cleft Palate by Ultrasound: Experience from 20 European Registries. Prenatal Diagnosis. 2000;20:870-5. IF:1,64 85. Floreani A, Molaro M, Sangalli A, Mottes M, Baragiotta A, Naccarato R, Clementi M. BRIC autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q 21 locus: is it a new entity? American Journal of Medical Genetics. 2000;95:450-3. IF:3,659 84. Riva P, Corrado L, Natacci F, Castorina P, Wu BL, Schneider GH, Clementi M, Tenconi R, Korf BR, Larizza L. NF1 microdeletion syndrome: Refined FISH characterization of sporadic and familial deletions with locus-specific probes. American Journal of Human Genetics. 2000;66:100-9. IF:12,629 83. Lopez Correa C, Brems H, Lazaro C, Estivill X, Clementi M, Mason S, Rutkowski JL, Marynen P, Legius E. Molecular studies in 20 submicroscopic NF1 deletions. Human mutation. 1999;14:387-93. IF:6.473 82. Clementi M, Forabosco P, Amadori A, Zamarchi R, De Silvestro G, Di Gianantonio E, Chieco-Bianchi L, Tenconi R. CD4 and CD8 T Lymphocyte Inheritance. Evidence For Major Autosomal Recessive Genes. Human Genetics. 1999;105:337-42. IF:4,331

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81. Clementi M, Tenconi R. Neurofibromatosis type 1 growth charts. Reply to the editor. American Journal of Medical Genetics. 2000;92:228. IF:3,659 80. Clementi M, Milani S, Mammi I, Boni S, Monciotti C, Tenconi R. Neurofibromatosis type 1 growth charts American Journal of Medical Genetics. 1999;87:317-23. IF:3,659 79. Clementi M, Bianca S, Benedicenti F, Tenconi R, and DS working group. Down Syndrome and Parity. Community Genetics. 1999;2:18-22. IF: 0.984 78. Annese V, Latiano A, Bovio P, Forabosco P, Piepoli A, Lombardi G, Andreoli A, Astegiano M, Gionchetti P, iegler G, Sturniolo GC, Clementi M, Rappaport E, Fortina P, Devoto M, Gasparini P, Andriulli A. Genetic analysis in Italian families with inflammatory bowel disease supports linkage to IBD1 locus. A GISC study. European Journal of Human Genetics. 1999;7:567-73. IF:3,697 77. Capon F, Novelli G, Semprini S, Clementi M, Nudo M, Vultaggio P, Botta A, Fabrizi G, Dallapiccola B. Searching for Psoriasis Suscptibility genes in Italy and assignment of a locus to chromosome 1cen-q21. Journal Investigative Dermatology. 1999;112:32-5. IF:4,535 76. Perilongo G, Moras P, Carollo C, Battistella A, Clementi M, Laverda AM, Murgia A. Spontaneous partial regression of low grade glioma in children with neurofibromatosis type 1. A real possibility. Journal of Child Neurology. 1999;14:352-6. IF:1,350 75. Mastroiacovo P, Mazzone T, Addis A, Elephant E, Carlier P, Vial T, Garbis H, Robert E, Bonati M, Ornoy A, Finardi A, Schaffer C, Caramelli L, Rodriguez-Pinilla E, Clementi M . High vitamin A intake in early pregnancy and major malformations: a multicenter prospective controlled study. Teratology. 1999;59:7-11. IF:1,981 74. Clementi M, Di Gianantonio E, Pelo E, Mammi I, Tenconi R. Methimazole embryopathy. Delineation of the phenotype. American Journal of Medical Genetics. 1999;83:43-6. IF:3,659 73. Calzolari E, Bianchi F, Dolk H, Stone D, Milan M, Clementi M, et al. Are omphalocele and Neural Tube Defects related congenital anomalies? Data from 21 Registries in Europe (EUROCAT). American Journal of Medical Genetics. 1997;72:79-84. IF:3,659 72. Mammi I, De Giorgio P, Clementi M, Tenconi R. Cardiovascular Anomaly In Rieger Syndrome: Heterogeneity Or Contiguity? Acta Ophthalmologica.1998;76:509-12. IF:1,458 71. Clementi M, Angi M, Forabosco P, di Gianantonio E, Tenconi R. Inheritance of astigmatism. Evidence for a major autosomal dominant locus. American Journal of Human Genetics. 1998;63:825:30. IF:12,629 70. Superti-Furga A, Tenconi R, Clementi M, Eich G, Steinmann B, Boltshauer E, Giedion A. Schwartz-Jampel syndrome Type 2 and Stuve-Wiedemann syndrome: a case for “lumping”. American Journal of Medical Genetics. 1998;78:150-4. IF:3,659 69. Simonati A, Battistella PA, Guariso G, Clementi M, Rizzuto N. Celiac Disease associated with peripheral neuropathy in a child: a case report. Neuropediatrics. 1998;29:155-8. IF:1,366 68. Forabosco P, Clementi M. Application of complex segregation models to common diseases in: Mathematical Genetics CLEUP Padova. 1996; ISBN 88-7178-473-1. 67. Notarangelo LD, Peitsch, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, et al. CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunology Today. 1996;17:511-6. IF:12,856

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66. Zolezzi F, Valli M, Clementi M, Mammi I, Cetta G, Pignatti PF, Mottes M. Mutation producing alternative splicing of exon 26 in the COL1A2 gene causing type IV osteogenesisi imperfecta with intrafamilial clinical variability. American journal of Medical Genetics. 1997;71:366-70. IF:3,659 65. Clementi M, Tenconi R, Forabosco P, Calzolari E, Milan M . Inheritance of Cleft Palate in Italy. Evidence for a Major Autosomal Recessive Locus. Human Genetics. 1997;100:210-4. IF:4,331 64. Guzzetta V, Defabiani E, Galli G, Colombo C, Corso G, Lecora M, Parenti G, Strisciuglio P, Andria G, Dirocco M, Giannotti S, Lupi L, Selicorni A, Clementi M, Gabrielli O, Pinto L, Rizzo A, Zelante L. Clinical and biochemical screening for Smith Lemli Opitz syndrome. Acta Paediatrica. 1996;85:937-42 . IF:1,297 63. Turco AE, Clementi M, Rossetti S, Tenconi R, Pignatti PF. An Italian family with autosomal dominant polycystic kidney disease unlinked to either the PKD1 or PDK2 gene. American Journal of kidney diseases. 1996;28:759-61. IF:4,072 62. Clementi M, Boni S, Mammi I, Favarato M, Tenconi R. Clinical application of genetic polymorphism in neurofibromatosis type1. Annales de Genetique. 1996;39:92-6. IF:0,961 61. Clementi M, Mammi I, Tenconi R. Family with Branchial Arch Anomalies, Hearing Loss, Ear and Commissural Lip Pits, and Rib Anomalies. A New Autosomal Recessive Condition: Branchio-Oto-Costal Syndrome? American Journal of Medical Genetics . 1997;68:91-3. IF:3,659 60. Mammi I, Iles DE, Smeets D, Clementi M, Tenconi R. Anesthesiologic problems in Williams syndrome. The CACNL2A locus is not involved. Human Genetics . 1996;98:317-20. IF:4,331 59. Amadori A, Zamarchi R, De Silvestro G, Forza G, Cavatton G, Danieli GA, Clementi M, Chieco-Bianchi L. Genetic control of the CD4/CD8 T-Cell ratio in humans. Nature Medicine. 1995;1:1279-83. IF:28.588 58. Calzolari E, Bianchi F, Dolk H, Milan M, Clementi M, et al . Omphalocele and gastroschisis in Europe: A survey of 3 million births 1980-1990. American journal of Medical Genetics. 1995;58:187-94. IF:3,659 57. Clementi M, Battistella PA, Rizzi L, Boni S, Tenconi R. Headache in patients with neurofibromatosis type 1. Headache. 1996;36:10-3. IF:2,740 56. Clementi M, Tenconi R, Collins A, Calzolari E, Milan M . Complex segregation analysis in a sample of consecutive newborns with cleft lip with or without cleft palate in Italy. Human Heredity. 1995;45:157-65. IF:3,662 55. Clementi M, Notari L, Borghi A, Tenconi R. Familial congenital bicuspid aortic valve. a disorder of uncertain inheritance. American journal of Medical Genetics. 1996;62:336-8. IF:3,659 54. Clementi M, Notari L, Tenconi R. Lethal multiple pterygium syndrome. importance of foetal physical examination. Letter to the editor. American journal of Medical Genetics. 1995; 57:119-20. IF:3,659 53. Milan M, Astolfi G, Volpato S, Clementi M, Tenconi R, Boni S, Calzolari E. 766 cases of oral cleft in Italy. Data from Emilia Romagna (IMER) and Northeast Italy (NEI) registers. European Journal of Epidemiology. 1994;10:317-24. IF:1.605 52. Tenconi R, Clementi M, Notari L, Lo Vasco VR. Amniotic band sequence in child of thalidomide victim. Comment on Thalidomide may be a mutagen.

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British Medical Journal. 1994; 309: 1442. IF:9.245 51. Spagnolo A, Bianchi F, Calabro A, Calzolari E, Clementi M, Mastroiacovo PP, Meli P, Petrelli C, Tenconi R. Anophthalmia and benomyl in Italy: a multicenter study based on 940,615 newborns. Reproductive Toxicology. 1994;5:397-403. IF: 2,362 50. Minelli A, Floridia G, Rossi E, Clementi M, Tenconi R, Camurri L, Bernardi F, Hoeller H, Re CP, Maraschio P, Wood S, Zuffardi O, Danesino C. D8S7 is consistently deleted in inverted duplications of the short arm of chromosome-8 (inv dup 8p). Human Genetics. 1993;92:391-6. IF:4,331 49. Clementi M, Tenconi R, Bianchi F, Botto L, Calabro A, Calzolari E, Cianciulli D, Mammi I, Mastroiacovo PP, Meli P, Spagnolo A, Turolla L, Volpato S. Congenital eye malformations: a descriptive epidemiological study in about a million newborns in Italy. BDOAS. 1996;32:411-432. 48. Anglani F, Murgia A, Bedin S, Bresin E, Bernardi F, Clementi M, Tenconi R. A new disease-causing mutation in the GAP-related domain of the NF1 gene. Human Molecular Genetics. 1993;2:1057-59. IF:8.099 47. Cornel MC, Breed, Tenkate LPL, Mantingh A, Ayme S, Becker R, Bianchi F, Calzolari E, Clementi M, Cuschieri A, Garne E, Gillerot Y, Goujard J, et al. . Variation in Prenatal Cytogenetic Diagnosis - Policies in 13 European Countries, 1989-1991. Prenatal Diagnosis. 1994;14:337-44 . IF:1,514 46. Tenconi R, Rossetti A, Turolla L, Clementi M. Iris hamartomas in neurofibromatosis-1. Italian Journal of Ophthalmology. 1993;7:83-86. 45. Angi M, Clementi M, Sardei C, Piattelli E, Bisantis C. Heritability of myopic refractive errors in identical and fraternal twins. Graefe's Archive for Clinical and Experimental Ophthalmology. 1993;231:580-5. IF:1,279 44. Clementi M, Rossetti A, Bellato S, Mammi I, Tenconi R. Is visual field reduction a component manifestation of Osteopathia Striata with Cranial Sclerosis? American Journal of Medical Genetics. 1993; 46:724-726. IF:3,659 43. Calzolari E, Volpato S, Bianchi F, Cianciulli D, Tenconi R, Clementi M, Calabro A, Lungarotti S, Mastroiacovo PP, Botto L, Spagnolo A, Milan M. Omphalocele and gastroschisis: a collaborative study of five Italian congenital malformation registries. Teratology. 1993;47:47-55. IF:1.981 42. Clementi M, Turolla L, Mammi I, Tenconi R. Clinical anophthalmia: an epidemiological study in Northeast Italy based on 368,256 consecutive births. Teratology. 1992;46:551-5. IF:1,981 41. Clementi M, Tenconi R, Turolla L, Silvan C, Bortotto L, Artifoni L. Apparent CHARGE association and chromosomal anomaly: chance or contiguous gene syndrome. American Journal of Medical Genetics. 1991;41:246-250. IF:3,659 40. Clementi M, Bellato S, Turolla L, Orzali A, Tenconi R. Sindrome di Hay-Wells. Presentazione del primo caso italiano. Rivista Italiana di Pediatria. 1991;17:327-329. 39. Anglani F, Tenconi R, Picci L, Murgia A, Scarpa M, Clementi M, Turolla L, Zachello F. Molecular study in neurofibromatosis type 1: linkage and mutation analysis. In: DNA analysis of genetic diseases: state of art in Italy III, vol 3. Ed. Camaschella C, Merlin P, Furbetta M, Pirastu M. 1991; p 11-14. IF:14,954 38. Clementi M, Murgia A, Anglani F, Tenconi R, Turolla L, Picci L, Zacchello F. Linkage analysis of neurofibromatosis type 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17. Human Genetics. 1991;87:91-94. IF:4,331

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37. Tenconi R, Clementi M, Turolla L, Monciotti C, Bordugo A, Rossetti A. Registro Nord Est Italia della neurofibromatosi tipo 1. Studio epidemiologico. Rivista Italiana di Pediatria. 1990;16:567-73. 36. Turolla L, Clementi M, Tenconi R . How wide is the clinical spectrum of the acrocallosal syndrome? Report of a mild case. Journal of Medical Genetics. 1990;27:516-18. IF:5.087 35. Murgia A, Tenconi R, Anglani F, Clementi M, Turolla L, Greggio NA, Zacchello F. Linkage analysis of neurofibromatosis 1. Study of a homogeneous North Italian population with five DNA markers of chromosome 17. Hum Genet. 1991;87:91-4. Oppure: In: DNA analysis of genetic diseases: state of art in Italy II vol 3. Ed.Pirastu M Camaschella C et al. 1989; p 155-8. 34. Clementi M, Barbujani G, Turolla L, Tenconi R . Neurofibromatosis-1: a maximum likelihood estimation of mutation rate. Human Genetics. 1990;84:116-118. IF:4,331 33. Clementi M, Calzolari E, Turolla L, Volpato S, Tenconi R . Neonatal growth patterns in a population of consecutively born Down syndrome children. American Journal of Medical Genetics. 1990;37:71-5. IF:3,659 32. Memo L, Visentin A, D'Elia R, Bortotto L, Clementi M, Tenconi R . Traslocazione X-Y. Descrizione di un nuovo caso. Rivista Italiana di Pediatria. 1989;15:488-491 . 31. Perale R, Talenti E, Lubrano G, Del Maschio M, Clementi M, Saia O. Calcificazioni multiple dei dischi intervertebrali ed altre insolite anomalie in una osservazione neonatale di sindrome da trisomia 13 (malattia di Patau). Radiologia Medica. 1988;76:230-232. 30. Zanardo V, Valerio MC, Talenti E, Longo M, De Ritis L, Clementi M. Artrogriposi distale e relaxatio diaframmatica. Rivista Italiana di Pediatria. 1988;14:423-4. 29. Clementi M, Silvan C, Largajolli G, Tenconi R. Sindrome di Robinow: descrizione di un altro caso italiano. 7 casi su 36 sono italiani. Perché? Rivista Italiana di Pediatria. 1988;14:425-8. 28. Tenconi R, Clementi M, Turolla L . Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns. Journal of Medical Genetics. 1988;25:243-6. IF:5.087 27. Lenzini E, Baccichetti C, Artifoni L, Clementi M, Bernardi F, Bortotto L, Caufin D, Chiafone G, Dalla Fior T, Forabosco A, Pecile V, Piccoli G, Santucci S. Il cariotipo in pazienti con diagnosi clinica di sindrome di Down: Valutazione di un campione di 1588 soggetti. Rivista Italiana di Pediatria. 1987;13: 375-8. 26. Tenconi R, Clementi M, Audino G, Artifoni L, Largaiolli G. Approccio diagnostico al nato morto con anomalia. Studio prospettico di 102 nati. Rivista Italiana di Pediatria. 1986;745-50. 25. Baggio B, Gambaro G, Marchini F, Cicerello E, Tenconi R, Clementi M, Borsatti A. An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. The New England Journal of Medicine. 1986;314:599-604. IF:51.296 24. Tenconi R, Miotti F, Miotti A, Audino G, Ferro R, Clementi M. Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy. American Journal of Medical Genetics. 1986;24:357-64. IF:3,659 23. Luzzatto C, Clementi M, Previtera C, Perrino P. Diagnosi prenatale dei difetti congeniti della parete addominale.

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Minerva Ginecologica. 1986;38: 549-552. 22. Monciotti C, Clementi M, Mastrorilli MP, Milanesi C, Zancan L. La colestasi intraepatica progressiva familiare: due casi. Rivista Italiana di Pediatria. 1986;12: 67-70. 21. Laverda AM, Clementi M, Tenconi R. Chorioretinal coloboma and Joubert syndrome. Reply to the Editor. Journal of Pediatrics. 1985;107:158-9. IF:3,991 20. Baccichetti C, Bortotto L, Artifoni L, Caufin D, Lenzini E, Clementi M. Cytogenetic investigation in 404 couples with repeated pregnancy loss and analysis of reproductive history of the parents. Perspectives in inherited metabolic diseases. 1985; 6:221-228 19. Clementi M, Cardin De Stefani E, Dei Rossi C, Avventi V, Tenconi R. Pachyonychia congenita Jackson-Lawler type: a distinct malformation syndrome. British Journal of Dermatology. 1986;114:367-370. IF:3.334 18. Clementi M, Tenconi R, Milani M, Turolla L. Theoric recurrence risk for neural tube defects in the Veneto Region. Perspectives in inherited metabolic diseases . 1985;6: 171-174. 17. Clementi M, Baccichetti C, Lucci G, Lenzini E, Tenconi R. Il dosaggio della attività disaccaridasiche nel liquido amniotico per la diagnosi prenatale precoce delle anomalie di pervietà e motilità dell'intestino fetale. Minerva Ginecologica. 1985;37: 635-9. 16. Clementi M, Rossetti A, Pesenti P, Tenconi R. Microphthalmia-congenital anterior polar cataract. an autosomal dominant syndrome. Ophthalmic Paediatrics and Genetics. 1985;6:189-92 . 15. Tenconi R, Clementi M, Audino G, Greggio N . External physical examination of stillborns. Letter to the editor. Human Pathology. 1984;15:696-7. IF:2,810 14. Laverda AM, Saia OS, Drigo P, Danieli E, Clementi M, Tenconi R. Chorioretinal coloboma and Joubert syndrome: a non-random association. Journal of Pediatrics. 1984;105:282-4 . IF:3,991 13. Audino G, Tenconi R, Clementi M, Saia OS, Cordioli GP. Popliteal pterygium syndrome presenting with orofacial abnormalities: report of a family. Journal of Maxillofacial Surgery. 1984;12:174-7 . IF 0,7 12. Clementi M, Tenconi R, Turolla L. Further investigations when abdominal wall defects are diagnosed in utero. Letter to the editor. Lancet. 1983;2:1083-4. IF: 25.800 11. Tenconi R, Clementi M, Audino G. Autosomal dominant microcephaly. Letter to the editor. Journal of Pediatrics. 1983; 102:644 . IF:3,991 10. Zancan L, Clementi M, Donzelli F, Previtera C, Tarchini G. Atresia delle vie biliari extraepatiche: problema non solo chirurgico. Minerva Pediatrica. 1982;34:845-52. 9. Clementi M, Tenconi R, Dal Bo Zanon R, Longo M, Girolami A. Transient blocking coagulation inhibitor in a 18-month-old boy. Folia Haematologica Leipzig. 1982;6:954-6 . IF:1,195 8. Baccichetti C, Tenconi R, Clementi M, Basile RT, Preto A . Curve di crescita standard per la sindrome di Down. Studio retrospettivo in 337 soggetti. Rivista Italiana di Pediatria. 1982;8:163-7

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7. Pozzan GB, Tenconi R, Clementi M, Zacchello F. Sindrome di Coffin-Siris. Rivista Italiana di Pediatria. 1982;8:333-6. 6. Pozzan GB, Clementi M, Zancan L, Barbato A, Perale R. Tre fratelli affetti da eventratio diaframmatica congenita. Rivista Italiana di Pediatria. 1982;8:219-22. 5. Tenconi R, Clementi M, Moschini GB, Casara G, Baccichetti C. Chorio-retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome. Clinical Genetics. 1981;20:347-51. IF:3,140 4. Donzelli F, Clementi M, Vido L, Guariso G, Farini R, Zancan L. Sindrome di Shwachman in due lattanti. Rivista Italiana di Pediatria. 1981;7:171-4 . 3. Donzelli F, Colleselli P, Chiarelli S, Narne N, Clementi M, Laverda AM, Zacchello F. La parotite ricorrente scialectasica nell'infanzia: studio di 10 casi. Rivista Italiana di Pediatria. 1980;6:613-9. 2. Baccichetti C, Basile RT, Clementi M, Preto A, Tenconi R. Growth and development in Down's syndrome. A series of 337 children from Veneto, Italy. Burgio GR, Fraccaro M, Tiepolo L, Wolf U, eds. Trisomy 21: an international symposium. Human Genetics . 1981;(suppl 2):232-3. IF:4,331 1. Donzelli F, Baldin F, Clementi M, Zanesco L. Rialimentazione del lattante affetto da gastroenterite acuta. Efficacia del tipo di latte. Minerva Pediatrica. 1979;31:1815-20.