Pubblicazioni

2022

• Galluzzi S, Mega A, Di Fede G, Muscio C, Fascendini S, Benussi L, Tagliavini F, Frisoni GB, Di Maria E; Italian-DIAfN Working Group. Psychological Impact of Predictive Genetic Testing for Inherited Alzheimer Disease and Frontotemporal Dementia: The IT-DIAfN Protocol. Alzheimer Dis Assoc Disord. 2022 Apr-Jun 01;36(2):118-124.
• Gandoglia I, Strada L, Poleggi A, Castaldi A, Del Sette M, Di Maria E. Penetrance of the V203I variant of the PRNP gene: report of a patient with stroke-like onset of Creutzfeld-Jacob Disease and review of published cases. Prion. 2022 Dec;16(1):19-22.
• Ruaud L, Drunat S, Elmaleh-Bergès M, Ernault A, Guilmin Crepon S; MCPH Consortium, El Ghouzzi V, Auvin S, Verloes A, Passemard S. Neurological outcome in WDR62 primary microcephaly. Dev Med Child Neurol. 2022 Apr;64(4):509-517. (Di Maria E)

2021

• Bredrup C, Cristea I, Safieh LA, Di Maria E, Gjertsen BT, Tveit KS, Thu F, Bull N, Edward DP, Hennekam RCM, Høvding G, Haugen OH, Houge G, Rødahl E, Bruland O. Temperature-dependent autoactivation associated with clinical variability of PDGFRB Asn666 substitutions. Hum Mol Genet. 2021 Mar 25;30(1):72-77.
• Di Maria E, Martini P, Gennarelli M. Naringerin as candidate drug against SARS-CoV-2: The role for TPC2 genomic variants in COVID-19. Pharmacol Res. 2021 Feb;164:105402. doi: 10.1016/j.phrs.2020.105402. Epub 2020 Dec 24. Erratum in: Pharmacol Res. 2021 Jun;168:105597.

2020

• Di Maria E, Latini A, Borgiani P, Novelli G. Genetic variants of the human host influencing the coronavirus-associated phenotypes (SARS, MERS and COVID-19): rapid systematic review and field synopsis. Hum Genomics. 2020 Sep 11;14(1):30.
• Izzotti A, Ceccaroli C, Geretto M, Grillo Ruggieri F, Schenone S, Di Maria E. Predicting Response to Neoadjuvant Therapy in Colorectal Cancer Patients the Role of Messenger-and Micro-RNA Profiling. Cancers (Basel). 2020 Jun 22;12(6):E1652.
• Mega A, Galluzzi S, Bonvicini C, Fostinelli S, Gennarelli M, Geroldi C, Zanetti O, Benussi L, Di Maria E, Frisoni GB. Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol. Alzheimers Res Ther. 2020 Nov 17;12(1):152.

2019

• Bonvicini C, Scassellati C, Benussi L, Di Maria E, Maj C, Ciani M, Fostinelli  S, Mega A, Bocchetta M, Lanzi G, Giacopuzzi E, Ferraboli S, Pievani M, Fedi V, Defanti CA, Giliani S; Alzheimer’s Disease Neuroimaging Initiative, Frisoni GB, Ghidoni R, Gennarelli M. Next Generation Sequencing Analysis in Early Onset Dementia Patients. J Alzheimers Dis. 2019;67(1):243-256.
• Del Monte P, Cuttica CM, Marugo A, Foppiani L, Audenino D, Godowicz TT, Elli FM, Mantovani G, Di Maria E. Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman. Case Rep Endocrinol. 2019 Jan 9;2019:8456239.
• Oosterloo M, Bijlsma EK, van Kuijk SM, Minkels F, de Die-Smulders CE; REGISTRY Investigators of the European Huntington's Disease Network; Registry Steering committee; Language coordinators; EHDN's associate site in Singapore. Clinical and genetic characteristics of late-onset Huntington's disease. Parkinsonism Relat Disord. 2019 Apr;61:101-105. (Di Maria E.)

2018

• Pitini E, De Vito C, Marzuillo C, D'Andrea E, Rosso A, Federici A, Di Maria E, Villari P. How is genetic testing evaluated? A systematic review of the literature. Eur J Hum Genet. 2018 May;26(5):605-615.

2016

• Bocchetta M, Mega A, Bernardi L, Di Maria E, Benussi L, Binetti G, Borroni B, Colao R, Di Fede G, Fostinelli S, Galimberti D, Gennarelli M, Ghidoni R, Piaceri I, Pievani M, Porteri C, Redaelli V, Rossi G, Suardi S, Babiloni C, Scarpini E, Tagliavini F, Padovani A, Nacmias B, Sorbi S, Frisoni GB, Bruni AC; SINdem Collaborators. Genetic Counseling and Testing for Alzheimer's Disease and Frontotemporal Lobar Degeneration: An Italian Consensus Protocol. J Alzheimers Dis. 2016 Jan 29;51(1):277-91.
• Castori M, Morlino S, Sana ME, Paradisi M, Tadini G, Angioni A, Malacarne M,Grammatico P, Iascone M, Forzano F. Clinical and molecular characterization of two patients with palmoplantar keratoderma-congenital alopecia syndrome type 2. Clin Exp Dermatol. 2016 Aug;41(6):632-5.
• Cho SY, Bae JS, Kim NK, Forzano F, Girisha KM, Baldo C, Faravelli F, Cho TJ, Kim D, Lee KY, Ikegawa S, Shim JS, Ko AR, Miyake N, Nishimura G, Superti-Furga A, Spranger J, Kim OH, Park WY, Jin DK. BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia. Am J Hum Genet. 2016 Jun 2;98(6):1243-8.
• D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry. 2016 Jan;73(1):20-30.
• Heinen CA, Jongejan A, Watson PJ, Redeker B, Boelen A, Boudzovitch-Surovtseva O, Forzano F, Hordijk R, Kelley R, Olney AH, Pierpont ME, Schaefer GB, Stewart F, van Trotsenburg AS, Fliers E, Schwabe JW, Hennekam RC. A specific mutation in TBL1XR1 causes Pierpont syndrome. J Med Genet. 2016 Jan 14. pii: jmedgenet-2015-103233.
• Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B. Responsible implementation of expanded carrier screening. Eur J Hum Genet. 2016 Jun;24(6):e1-e12.

2015

• Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet. 2015 Mar 18. [Epub ahead of print]
• Dondorp W, de Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, Peterlin B, Radojkovic D, Rogowski W, Soller M, Tibben A, Tranebjærg L, van El CG, Cornel MC. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015 Apr 1. [Epub ahead of print]
• Levet S, Ouarné M, Ciais D, Coutton C, Subileau M, Mallet C, Ricard N, Bidart M, Debillon T, Faravelli F, Rooryck C, Feige JJ, Tillet E, Bailly S. BMP9 and BMP10 are necessary for proper closure of the ductus arteriosus. Proc Natl Acad Sci U S A. 2015 Jun 23;112(25):E3207-15.
• Maillard AM, Ruef A, Pizzagalli F, Migliavacca E, Hippolyte L, Adaszewski S, Dukart J, Ferrari C, Conus P, Männik K, Zazhytska M, Siffredi V, Maeder P, Kutalik Z, Kherif F, Hadjikhani N; 16p11.2 European Consortium, Beckmann JS, Reymond A, Draganski B, Jacquemont S; 16p11 2 European Consortium. The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity. Mol Psychiatry. 2015 Feb;20(1):140-7. (Forzano F)
• Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2015 Feb;87(2):148-54.
• Severin F, Borry P, Cornel MC, Daniels N, Fellmann F, Victoria Hodgson S, Howard HC, John J, Kääriäinen H, Kayserili H, Kent A, Koerber F, Kristoffersson U, Kroese M, Lewis C, Marckmann G, Meyer P, Pfeufer A, Schmidtke J, Skirton H, Tranebjærg L, Rogowski WH; EuroGentest and ESHG/PPPC Priority Consortium. Points  to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness. Eur J Hum Genet. 2015 Jun;23(6):729-35.
• Verloes A, Di Donato N, Masliah-Planchon J, Jongmans M, Abdul-Raman OA, Albrecht B, Allanson J, Brunner H, Bertola D, Chassaing N, David A, Devriendt K,  Eftekhari P, Drouin-Garraud V, Faravelli F, Faivre L, Giuliano F, Guion Almeida L, Juncos J, Kempers M, Eker HK, Lacombe D, Lin A, Mancini G, Melis D, Lourenço CM, Siu VM, Morin G, Nezarati M, Nowaczyk MJ, Ramer JC, Osimani S, Philip N, Pierpont ME, Procaccio V, Roseli ZS, Rossi M, Rusu C, Sznajer Y, Templin L, Uliana V, Klaus M, Van Bon B, Van Ravenswaaij C, Wainer B, Fry AE, Rump A, Hoischen A, Drunat S, Rivière JB, Dobyns WB, Pilz DT. Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum  Genet. 2015 Mar;23(3):292-301.

• Vetro A, Dehghani MR, Kraoua L, Giorda R, Beri S, Cardarelli L, Merico M, Manolakos E, Bustamante AP, Castro A, Radi O, Camerino G, Brusco A, Sabaghian M,  Sofocleous C, Forzano F, Palumbo P, Palumbo O, Calvano S, Zelante L, Grammatico P, Giglio S, Basly M, Chaabouni M, Carella M, Russo G, Bonaglia MC, Zuffardi O. Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and  SOX3. Eur J Hum Genet. 2015 Aug;23(8):1025-32.

2014

• Baroncini A, Sinibaldi L, Bernardini L, Cavalli P, Faravelli F, Gentile M, Lituania M, Volpe P, Camurri L, Novelli A, Dallapiccola B. Chromosomal microarray as first-tier approach in low-risk pregnancies: detection rate should not be the  only criterion for its application. Ultrasound Obstet Gynecol. 2014 Mar;43(3):357-8.
• Giordano L, Desnick RJ, Molinaro A, Uliana V, Forzano F, Edelmann L, Nazarenko I, Pinelli L, Accorsi P, Faravelli F. Setleis syndrome: genetic and clinical findings in a new case with epilepsy. Pediatr Neurol. 2014 Apr;50(4):389-91.
• Mastroiacovo P, Nilsen RM, Leoncini E, Gastaldi P, Allegri V, Boiani A, Faravelli F, Ferrazzoli F, Guala A, Madrigali V, Scarano G. Prevalence of maternal preconception risk factors: an Italian multicenter survey. Ital J Pediatr. 2014 Nov 23;40:91. doi: 10.1186/s13052-014-0091-5. PubMed PMID: 25416843.
• Micale L, Augello B, Maffeo C, Selicorni A, Zucchetti F, Fusco C, De Nittis P, Pellico MT, Mandriani B, Fischetto R, Boccone L, Silengo M, Biamino E, Perria C,  Sotgiu S, Serra G, Lapi E, Neri M, Ferlini A, Cavaliere ML, Chiurazzi P, Monica MD, Scarano G, Faravelli F, Ferrari P, Mazzanti L, Pilotta A, Patricelli MG, Bedeschi MF, Benedicenti F, Prontera P, Toschi B, Salviati L, Melis D, Di Battista E, Vancini A, Garavelli L, Zelante L, Merla G. Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of kabuki syndrome patients. Hum Mutat. 2014 Jul;35(7):841-50.

2013

• Battistella G, Niederhauser J, Fornari E, Hippolyte L, Gronchi Perrin A, Lesca G, Forzano F, Hagmann P, Vingerhoets FJ, Draganski B, Maeder P, Jacquemont S. Brain structure in asymptomatic FMR1 premutation carriers at risk for fragile X-associated tremor/ataxia syndrome. Neurobiol Aging. 2013 Jun;34(6):1700-7.
• Cinotti E, Ferrero G, Paparo F, Papadia M, Faravelli F, Rongioletti F, Traverso C, Di Maria E. Arthropathy, osteolysis, keloids, relapsing conjunctival pannus and gingival overgrowth: a variant of polyfibromatosis? Am J Med  Genet A.  2013 Jun;161(6):1214-20.
• Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina  E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mari F, Buoni S, Mostardini R, Grosso S, Pantaleoni C, Doz M, Poch-Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E. Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype. Am J Med Genet A. 2013 Feb;161A(2):273-84.
• de Souza MA, McAllister C, Suttie M, Perrotta C, Mattina T, Faravelli F, Forzano F, Holland A, Hammond P. Growth hormone, gender and face shape in Prader-Willi syndrome. Am J Med Genet A. 2013 Oct;161(10):2453-63.
• Garavelli L, Piemontese MR, Cavazza A, Rosato S, Wischmeijer A, Gelmini C, Albertini E, Albertini G, Forzano F, Franchi F, Carella M, Zelante L, Superti-Furga A. Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci. Am J Med Genet A. 2013 Nov;161(11):2894-901.
• Handley MT, Morris-Rosendahl DJ, Brown S, Macdonald F, Hardy C, Bem D, Carpanini SM, Borck G, Martorell L, Izzi C, Faravelli F, Accorsi P, Pinelli L, Basel-Vanagaite L, Peretz G, Abdel-Salam GM, Zaki MS, Jansen A, Mowat D, Glass I, Stewart H, Mancini G, Lederer D, Roscioli T, Giuliano F, Plomp AS, Rolfs A, Graham JM, Seemanova E, Poo P, García-Cazorla A, Edery P, Jackson IJ, Maher ER, Aligianis IA. Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.  Hum Mutat. 2013 May;34(5):686-96.
• Hens K, Van El CE, Borry P, Cambon-Thomsen A, Cornel MC, Forzano F, Lucassen A, Patch C, Tranebjaerg L, Vermeulen E, Salvaterra E, Tibben A, Dierickx K. Developing a policy for paediatric biobanks: principles for good practice. Eur J  Hum Genet. 2012 Jun 20.
• Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P. Craniofacial characteristics of fragile X syndrome in mouse and man. Eur J Hum Genet. 2013 Aug;21(8):816-23.
• Liegel RP, Handley MT, Ronchetti A, Brown S, Langemeyer L, Linford A, Chang B, Morris-Rosendahl DJ, Carpanini S, Posmyk R, Harthill V, Sheridan E, Abdel-Salam GM, Terhal PA, Faravelli F, Accorsi P, Giordano L, Pinelli L, Hartmann B, Ebert AD, Barr FA, Aligianis IA, Sidjanin DJ. Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans. Am J Hum Genet. 2013 Dec 5;93(6):1001-14.
• MacLeod R, Tibben A, Frontali M, Evers-Kiebooms G, Jones A, Martinez-Descales  A, Roos RA; Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clin Genet. 2013 Mar;83(3):221-31. (Di Maria E)
• Mandrile G, Dubois A, Hoffman JD, Uliana V, Di Maria E, Malacarne M, Coviello D, Faravelli F, Zwolinski S, Hellens S, Wright M, Forzano F. 3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? Eur J Med Genet. 2013 Apr;56(4):216-21.
• Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, Hurst J, Kini U, Nowaczyk MJ, Afenjar A, Albrecht B, Allanson JE, Balestri P, Ben-Omran T, Brancati F, Cordeiro I, da Cunha BS, Delaney LA, Destrée A, Fitzpatrick D, Forzano F, Ghali N, Gillies G, Harwood K, Hendriks YM, Héron D, Hoischen A, Honey EM, Hoefsloot LH, Ibrahim J, Jacob CM, Kant SG, Kim CA, Kirk EP, Knoers NV, Lacombe D, Lee C, Lo IF, Lucas LS, Mari F, Mericq V, Moilanen JS, Møller ST, Moortgat S, Pilz DT, Pope K, Price S, Renieri A, Sá J, Schoots J, Silveira EL, Simon ME, Slavotinek A, Temple IK, van der Burgt I, de Vries BB, Weisfeld-Adams JD, Whiteford ML, Wierczorek D, Wit JM, Yee CF, Beaulieu CL, White SM, Bulman DE, Bongers E, Brunner H, Feingold M, Boycott KM. The phenotype of floating-harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013 Apr 27;8(1):63.
• Revencu N, Boon LM, Dompmartin A, Rieu P, Busch WL, Dubois J, Forzano F, van Hagen JM, Halbach S, Kuechler A, Lachmeijer AM, Lähde J, Russell L, Simola KO, Mulliken JB, Vikkula M. Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth. Mol Syndromol. 2013 Apr;4(4):173-8.
• Simone B, Mazzucco W, Gualano MR, Agodi A, Coviello D, Dagna Bricarelli F, Dallapiccola B, Di Maria E, Federici A, Genuardi M, Varesco L, Ricciardi W, Boccia S; GENISAP Network. The policy of public health genomics in Italy. Health  Policy. 2013 May;110(2-3):214-9.
• Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium, Rahman N. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.  Am J Med Genet A. 2013 Dec;161A(12):2972-80. (Faravelli F)
• Travaglini L, Brancati F, Silhavy J, Iannicelli M, Nickerson E, Elkhartoufi N, Scott E, Spencer E, Gabriel S, Thomas S, Ben-Zeev B, Bertini E, Boltshauser E, Chaouch M, Cilio MR, de Jong MM, Kayserili H, Ogur G, Poretti A, Signorini S, Uziel G, Zaki MS; International JSRD Study Group, Johnson C, Attié-Bitach T, Gleeson JG, Valente EM. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. Eur J Hum Genet. 2013 Oct;21(10):1074-8. (Faravelli F, Uliana V)

2012

• Accorsi P, Giordano L, Uliana V, Forzano F, Pinelli L, Olioso G, Zenker M, Di  Maria E, Faravelli F. A patient with a skull defect, dysmorphic features, hypopituitarism, and abnormal cortical development. Clin Dysmorphol. 2012 Apr;21(2):74-6.
• Battistuzzi L, Ciliberti R, Forzano F, De Stefano F. Regulating the communication of genetic risk information: the Italian legal approach to questions of confidentiality and disclosure. Clin Genet. 2012 Sep;82(3):205-9.
• Di Maria E, Giorgio E, Uliana V, Bonvicini C, Faravelli F, Cammarata S, Novello MC, Galimberti D, Scarpini E, Zanetti O, Gennarelli M, Tabaton M. Possible influence of a non-synonymous polymorphism located in the NGF precursor  on susceptibility to late-onset Alzheimer's disease and mild cognitive impairment. J Alzheimers Dis. 2012;29(3):699-705.
• Finelli P, Sirchia SM, Masciadri M, Crippa M, Recalcati MP, Rusconi D, Giardino D, Monti L, Cogliati F, Faravelli F, Natacci F, Zoccante L, Bernardina BD, Russo S, Larizza L. Juxtaposition of heterochromatic and euchromatic regions  by chromosomal translocation mediates a heterochromatic long-range position effect associated with a severe neurological phenotype. Mol Cytogenet. 2012 Apr 4;5:16.
• Forzano F, Napoli F, Uliana V, Malacarne M, Viaggi C, Bloise R, Coviello D, Di Maria E, Olivieri I, Di Iorgi N, Faravelli F. 19q13 microdeletion syndrome: Further refining the critical region. Eur J Med Genet. 2012 Jun;55(6-7):429-32.
• Garavelli L, Gargano G, Simonte G, Rosato S, Wischmeijer A, Melli N, Braibanti S, Gelmini C, Forzano F, Pietrobono R, Pomponi MG, Andreucci E, Toutain A, Superti-Furga A, Neri G. Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia. Am J Med Genet A. 2012 Sep;158A(9):2245-9.
• Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E,  Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin  Med Genet. 2012 Aug 15;160C(3):217-29.
• Ghiorzo P, Fornarini G, Sciallero S, Battistuzzi L, Belli F, Bernard L, Bonelli L, Borgonovo G, Bruno W, De Cian F, Decensi A, Filauro M, Faravelli F, Gozza A, Gargiulo S, Mariette F, Nasti S, Pastorino L, Queirolo P, Savarino V, Varesco L, Scarrà GB; Genoa Pancreatic Cancer Study Group. CDKN2A is the main susceptibility gene in Italian pancreatic cancer families. J Med Genet. 2012 Mar;49(3):164-70.
• Giordano L, Viri M, Borgatti R, Lodi M, Accorsi P, Faravelli F, Ferretti MC, Grasso R, Memo L, Prola S, Pruna D, Santucci M, Savasta S, Verrotti A, Romeo A. Seizures and EEG patterns in Pallister-Killian syndrome: 13 New Italian patients. Eur J Paediatr Neurol. 2012 Nov;16(6):636-41.
• Hammond P, Hannes F, Suttie M, Devriendt K, Vermeesch JR, Faravelli F, Forzano F, Parekh S, Williams S, McMullan D, South ST, Carey JC, Quarrell O. Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet.  2012 Jan;20(1):33-40.
• Poretti A, Vitiello G, Hennekam RC, Arrigoni F, Bertini E, Borgatti R, Brancati F, D'Arrigo S, Faravelli F, Giordano L, Huisman TA, Iannicelli M, Kluger G, Kyllerman M, Landgren M, Lees MM, Pinelli L, Romaniello R, Scheer I, Schwarz CE, Spiegel R, Tibussek D, Valente EM, Boltshauser E. Delineation and diagnostic  criteria of Oral-Facial-Digital Syndrome type VI. Orphanet J Rare Dis. 2012 Jan 11;7:4.
• Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Discrepancies in reporting the CAG repeat lengths for Huntington's disease. Eur J Hum Genet. 2012 Jan;20(1):20-6. (Di Maria E)

2011

• Ejarque I, Uliana V, Forzano F, Marciano C, Merla G, Zelante L, Di Maria E, Faravelli F. Is Hardikar syndrome distinct from Kabuki (Niikawa-Kuroki)  syndrome? Clin Genet. 2011 Nov;80(5):493-6.

• Foppiani L, Cella A, Carrara P, Balocco M, Forzano F, Leone D, Ivaldi G, Bacigalupo L, Del Monte P. Osteoporosis in an elderly man as interplay of multiple diseases. Geriatr Gerontol Int. 2011 Jan;11(1):123-6.
• Giorgio E, Caroti C, Mattioli F, Uliana V, Parodi MI, D'Amico M, Fucile C, Marini V, Forzano F, Cassola G, Martelli A, Faravelli F, Di Maria E. Severe fluoropyrimidine-related toxicity: clinical implications of DPYD analysis and UH2/U ratio evaluation. Cancer Chemother Pharmacol. 2011 Aug 11.
• Lepri F, De Luca A, Stella L, Rossi C, Baldassarre G, Pantaleoni F, Cordeddu V, Williams BJ, Dentici ML, Caputo V, Venanzi S, Bonaguro M, Kavamura I, Faienza MF, Pilotta A, Stanzial F, Faravelli F, Gabrielli O, Marino B, Neri G, Silengo MC, Ferrero GB, Torrrente I, Selicorni A, Mazzanti L, Digilio MC, Zampino G, Dallapiccola B, Gelb BD, Tartaglia M. SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. Hum Mutat. 2011 Jul;32(7):760-72.
• Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Cirillo Silengo M, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagni 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, Merla G. Mutation Spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis. 2011 Jun 9;6(1):38.
• Van El CG, Cornel MC; ESHG Public and Professional Policy Committee. Genetic testing and common disorders in a public health framework. Eur J Hum Genet. 2011  Apr;19(4):377-81. Epub 2011 Jan 26. (Forzano F)

2010

• Cocchella A, Malacarne M, Forzano F, Marciano C, Pierluigi M, Perroni L, Faravelli F, Di Maria E. The refinement of the critical region for the 2q31.2q32.3 deletion syndrome indicates candidate genes for mental retardation and speech impairment. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 15
• Di Maria E, Cammarata S, Parodi MI, Borghi R, Benussi L, Galli M, Galimberti D, Ghidoni R, Gonella D, Novello C, Pollero V, Perroni L, Odetti P, Scarpini E, Binetti G, Tabaton M. The H1 haplotype of the tau gene (MAPT) is associated with mild cognitive impairment. J Alzheimers Dis. 2010;19(3):909-14
• Di Maria E, Tenconi R. Is a proper name the proper name? A survey on attitude of clinical geneticists towards eponyms in Italy. Am J Med Genet A. 2010Mar;152A(3):795-6.

• Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G. An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient. Eur J Hum Genet. 2010 Jan;18(1):33-8.

• Foppiani L, Maffè A, Forzano F. CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation. Andrologia. 2010 Oct;42(5):326-30
• Forzano F, Borry P, Cambon-Thomsen A, Hodgson SV, Tibben A, de Vries P, van El C, Cornel M. Italian appeal court: a genetic predisposition to commit murder? Eur J Hum Genet. 2010 May;18(5):519-21.
• Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene. Ultrasound Obstet Gynecol.  2010 Sep;36(3):315-23.
• Grasso M, Cecconi M, Boni S, Forzano F, Barbaresi M, Memo L, Perroni L, Faravelli F, Di Maria E. The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype. Mol Cell Probes. 2010 Apr;24(2):107-9. Epub 2009 Oct 21
• Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group, Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat. 2010 May;31(5):E1319-31. (Faravelli F)
• Lalatta F, Quagliarini D, Folliero E, Cavallari U, Gentilin B, Castorina P, Forzano F, Forzano S, Grosso E, Viassolo V, Naretto VG, Gattone S, Ceriani F, Faravelli F, Gargantini L. Triple X syndrome: characteristics of 42 Italian girls and parental emotional response to prenatal diagnosis. Eur J Pediatr. 2010 May 15.
• Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet. 2010 Jan;47(1):30-7.

2009

• Belligni Elga F, Biamino E, Molinatto C, Messa J, Pierluigi M, Faravelli F, Zuffardi O, Ferrero GB, Cirillo Silengo M.
  Subtelomeric FISH analysis in 76 patients with syndromic development delay intelectual disability. Riv Ital Pediatr. 2009 Apr 27;35(1):9.
• Connell FC, Ostergaard P, Carver C, Brice G,  Williams N, Mansour S, Mortimer PS, Jeffery S, Lymphoedema Consortium
  Analysis of the coding regions of VEGFR3 and VEGFC in Milroy Disease and other primary lymphoedemas. Human Genetics, 2009 Mar;125(2):237
• Drera B, Floriddia G, Forzano F, Barlati S, Zambruno G, Colombi M, Castiglia D.
  Branch point and donor splice-site COL7A1 mutations in mild recessive dystrophic epidermolysis bullosa. Br J Dermatol. 2009 Aug;161(2):464-7.
• Forzano F, Viassolo V, Castagnetta M, Cavani S, Battistuzzi L, Garbati E, Emiliozzi MC, Cecchi A, Faravelli F, Lituania M.
  Prenatal diagnosis of Gollop-Wolfgang Complex. Prenat Diagn. 2009 Jul;29(7):724-6.
• Fusco F, Paciolla M, Pescatore A, Lioi MB, Ayuso C, Faravelli F, Gentile M, Zollino M, D'Urso M, Miano MG, Ursini MV.
  Microdeletion/duplication at the Xq28 IP locus causes a de novo IKBKG/NEMO/IKKgamma exon4_10 deletion in families with  Incontinentia Pigmenti. Hum Mutat. 2009 Sep;30(9):1284-91.
• Garavelli L, Zollino M, Mainardi PC, Gurrieri F, Rivieri F, Soli F, Verri R, Albertini E, Favaron E, Zignani M, Orteschi D, Bianchi P, Faravelli F, Forzano F, Seri M, Wischmeijer A, Turchetti D, Pompilii E, Gnoli M, Cocchi G, Mazzanti L, Bergamaschi R, De Brasi D, Sperandeo MP, Mari F, Uliana V, Mostardini R, Cecconi M, Grasso M, Sassi S, Sebastio G, Renieri A, Silengo M, Bernasconi S, Wakamatsu N, Neri G.
  Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature. Am J Med Genet A. 2009 Mar;149A(3):417-26
• Giardino D, Corti C, Ballarati L, Colombo D, Sala E, Villa N, Piombo G, Pierluigi M, Faravelli F, Guerneri S, Coviello D, Lalatta F, Cavallari U, Bellotti D, Barlati S, Croci G, Franchi F, Savin E, Nocera G, Amico FP, Granata P, Casalone R, Nutini L, Lisi E, Torricelli F, Giussani U, Facchinetti B, Guanti G, Di Giacomo M, Susca FP, Pecile V, Romitti L, Cardarelli L, Racalbuto E, Police MA, Chiodo F, Rodeschini O, Falcone P, Donti E, Grimoldi MG, Martinoli E, Stioui S, Caufin D, Lauricella SA, Tanzariello SA, Voglino G, Lenzini E, Besozzi M, Larizza L, Dalprà L.
  De novo balanced chromosome rearrangements in prenatal diagnosis. Prenat Diagn. 2009 Mar;29(3):257-65.
• Giordano L, Vignoli A, Pinelli L, Brancati F, Accorsi P, Faravelli F, Gasparotti R, Granata T, Giaccone G, Inverardi F, Frassoni C, Dallapiccola B, Valente EM, Spreafico R.
  Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. Am J Med Genet A. 2009 Jul;149A(7):1511-5.
• Grasso M, Cecconi M, Boni S, Forzano F, Barbaresi M, Memo L, Perroni L, Faravelli F, Di Maria E.
  The -413C > G substitution in the promoter of the FMR1 gene is not associated with the fragile X syndrome phenotype. Mol Cell Probes. 2009 Oct 21.
• Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L, Marino B, Ferrero GB, Silengo MC, Memo L, Stanzial F, Faravelli F, Stuppia L, Puxeddu E, Gelb BD, Dallapiccola B, Tartaglia M.
  Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum. Hum Mutat. 2009 Apr;30(4):695-702.
• Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, et al.
  Expanding CEP290 mutational spectrum in ciliopathies. Am J Med Genet A. 2009 Oct;149A(10):2173-80.

2008

• Cecconi M, Forzano F, Rinaldi R, Cappellacci S, Grammatico P, Faravelli F, Dagna Bricarelli F, Di Maria E, Grasso M. A single nucleotide variant in the FMR1 CGG repeat results in a "Pseudodeletion" and is not associated with the fragile X syndrome phenotype. J Mol Diagn. 2008 May;10(3):272-5
• Gordillo M, Vega H, Trainer AH, Hou F, Sakai N, Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E, Hurst JA, Forzano F, Meins M, Set all. The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet. 2008 Jul 15;17(14):2172-80
• Brancati F, Travaglini L, Zablocka D, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM. RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders. Clin Genet. 2008 Aug;74(2):164-70. Epub 2008 Jun 28
• Cecconi M, Forzano F, Garavelli L, Pantaleoni C, Grasso M, Dagna Bricarelli F, Perroni L, Di Maria E, Faravelli F. Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. Am J Med Genet A. 2008 Nov 12
• Foppiani L, Forzano F, Ceccherini I, Bruno W, Ghiorzo P, Caroli F, Quilici P, Bandelloni R, Arlandini A, Sartini G, Cabria M, Del Monte P. Uncommon association of germline mutations of RET proto-oncogene and CDKN2A gene. Eur J Endocrinol. 2008 Mar;158(3):417-22

2007

• Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature. Prenat Diagn. 27(6),495-501  (2007)
• Faravelli F, Murdolo M, Marangi G, Dagna-Bricarelli F, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of  familial recurrence in microdeletion syndromes. Am J Med Genet A. 143(11):1169-73 (2007)
• Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G. Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16. Hum Genet. 122(5),423-30 (2007)
• Della Monica M, Lonardo F, Faravelli F, Pierluigi M, Luquetti DV, De Gregori M, Zuffardi O, Scarano G. A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q. Am J Med Genet A. 143(22)2733-7(2007)
• Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, Faravelli F. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 143A(23),2815-2820 (2007)
• Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics. 90(5), 567-73 (2007)
• Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T, The Childhood Overgrowth Collaboration (includes F.Forzano) and Rahman N. "Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth" Nature Genetics, 39(8),963-5 (2007)
• Foppiani L, Del Monte P, Faravelli F, de Sanctis L, Marugo A, Bernasconi D. Clinical heterogeneity of familial pseudohypoparathyroidism.
  J Endocrinol Invest. 2006 Jan;29(1):94-6

2006

• Ferrero GB, Belligni E, Sorasio L, Delmonaco AG, Oggero R, Faravelli F, Pierluigi M, Silengo M.
  Phenotype resembling Donnai-Barrow syndrome in a patient with 9qter;16qter unbalanced translocation.
  Am J Med Genet A. 2006 Apr 15;140(8):892-4
• Perroni L, Faravelli F, Cusano R, Forzano F, De Cassan P, Baldo C, Dagna Bricarelli F.
  Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX): report of the first prenatal diagnosis
  Prenatal Diagnosis, 2006 May;26(5):487-9
• Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, De Backer JF, Oswald GL, Symoens S, Manouvrier S, Roberts AE, Faravelli F, Greco MA, Pyeritz RE, Milewicz DM, Coucke PJ, Cameron DE, Braverman AC, Byers PH, De Paepe AM, Dietz HC.
  Aneurysm syndromes caused by mutations in the TGF-beta receptor.
  N Engl J Med. 2006 Aug 24;355(8):788-98
• Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L.
  Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
  BMC Med Genet. 2006 Oct 19;7:77
• Viassolo V, Lituania M, Marasini M, Dietz H, Benelli F, Forzano F, Faravelli F.
  Fetal aortic root dilation: a prenatal feature of the Loeys-Dietz syndrome.
  Prenat Diagn. 2006 Nov;26(11):1081-3

2005

• Laumonnier F, Holbert S, Ronce N, Faravelli F, Lenzner S, Schwartz CE, Lespinasse J, Van Esch H, Lacombe D, Goizet C, Phan-Dinh Tuy F, van Bokhoven H, Fryns JP, Chelly J, Ropers HH, Moraine C, Hamel BC, Briault S. Mutations in PHF8 are associated with X linked mental retardation and cleft ip/cleft palate. J Med Genet. 2005; 42(10):780-6
• Faravelli F. NSD1 mutations in Sotos syndrome. Am J Med Genet C Semin Med Genet. 2005 15;137(1):24-31
• D'Arrigo S, Grazia BM, Faravelli F, Riva D, Pantaleoni C. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy(PEHO)-like syndrome: what diagnostic characteristics are defining? J Child Neurol. 2005; 20(5):454-6
• Tatton-Brown K, Douglas J, Coleman K, Baujat G, Cole TR, Das S, Horn D, Hughes HE, Temple IK, Faravelli F, Waggoner D, Turkmen S, Cormier-Daire V, Irrthum A, Rahman N, Childhood Overgrowth Collaboration. Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005; 77(2):193-204
• Pastorino L, Cusano R, Baldo C, Forzano F, Nasti S, Di Rocco M, Carta M, Bricarelli FD, Faravelli F, Scarra GB. Nevoid Basal Cell Carcinoma Syndrome in infants: improving diagnosis. Child Care Health Dev. 2005; 31(3):351-4
• Tatton-Brown K, Douglas J, Coleman K, Baujat G, Chandler K, Clarke A, Collins A, Davies S, Faravelli F, Firth H, Garrett C, Hughes H, Kerr B, Liebelt J, Reardon W, Schaefer GB, Splitt M, Temple IK, Waggoner D, Weaver DD, Wilson L, Cole T, Cormier-Daire V, Irrthum A, Rahman N. Childhood Overgrowth Collaboration. Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr;42(4):307-13
• Cecconi M, Forzano F, Milani D, Cavani S, Baldo C, Selicorni A, Pantaleoni C, Silengo M, Ferrero GB, Scarano G, Della Monica M, Fischetto R, Grammatico P, Majore S, Zampino G, Memo L, Cordisco EL, Neri G, Pierluigi M, Bricarelli FD, Grasso M, Faravelli F. Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth. Am J Med Genet A. 2005 30;134(3):247-53
• Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, Barile M, Gliori S, Muggianu M, Ghigliotti G, Lacaita MG, Lo Muzio L, Bianchi-Scarra G.  Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005 25(3):322-3
• Forzano F, P.E.F. Daubeney, S.M White "Midline raphe, sternal cleft, and other midline abnormalities: A new dominant syndrome?" American Journal of Medical Genetics, /2005, 15, 135A:9-12
• Forzano F, P.E.F. Daubeney, S.M White "Midline raphe, sternal cleft, and other midline abnormalities: A new dominant syndrome?" (Am J Med Genet 135A:9-12). Am J Med Genet A. 2005 15;136A(2):227

2004

• Stewart DR, Huang A, Faravelli F, Anderlid BM, Medne L, Ciprero K, Kaur M,Rossi E, Tenconi R, Nordenskjold M, Gripp KW, Nicholson L, Meschino WS, Capua E, Quarrell OW, Flint J, Irons M, Giampietro PF, Schowalter DB, Zaleski CA, Malacarne M, Zackai EH, Spinner NB, Krantz ID. Subtelomeric deletions of chromosome 9q: a novel microdeletion syndrome. Am J Med Genet A. 2004;1;128(4):340-51
• Forzano F, Faravelli F, Di Rocco M. Cerebro-fronto-facial syndrome: report of a further case. Clin Dysmorphol. 2004; 13(2):121-2