Dr. med. Alessandra Ferrarini

BIBLIOGRAPHY (peer-reviewed scientific journals)

Hirsch factor: 10 (ISI; 8 June 2020)

- ORIGINAL ARTICLES (AND SYSTEMATIC REVIEWS)

1. Zollino M, Lecce R, Selicorni A, Murdolo M, Mancuso I, Marangi G, Zampino G, Garavelli L, Ferrarini A, Rocchi M, Opitz JM, Neri G. A double cryptic chromosome imbalance is an important factor to explain phenotypic variability in Wolf-Hirschhorn syndrome. Eur J Hum Genet 2004;12:797-804.
2. Bartoli F, Martinez JM, Ferrarini A, Recaldini E, Bianchetti MG. Poor adherence to the prophylactic use of vitamin D3 in Switzerland. J Pediatr Endocrinol Metab 2006;19:281-282.
3. Robbiani JH, Simonetti G, Crosazzo L, Ferrarini A, Pronzini F, Bianchetti MG. False positive dipstick for urinary blood in childhood. J Nephrol 2006;19:605-606.
4. Van der Aa N, Rooms L, Vandeweyer G, van den Ende J, Reyniers E, Fichera M, Romano C, Delle Chiaie B, Mortier G, Menten B, Destrée A, Maystadt I, Männik K, Kurg A, Reimand T, McMullan D, Oley C, Brueton L, Bongers EM, van Bon BW, Pfund R, Jacquemont S, Ferrarini A, Martinet D, Schrander-Stumpel C, Stegmann AP, Frints SG, de Vries BB, Ceulemans B, Kooy RF.nFourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome. Eur J Med Genet 2009;52:94-100.
5. Ferrarini A, Osterheld MC, Vial Y, de Viragh PA, Cotting J, Martinet D, Beckmann JS, Fellmann F. Familial occurrence of an association of multiple intestinal atresia and choanal atresia: a new syndrome? Am J Med Genet A 2009;149A:2661-2665.
6. Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Chèvre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, Béri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sjöström L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, Männik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010;463:671-675.
7. Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 2011; 478: 97-102.
8. Ferrarini A, Auteri-Kaczmarek A, Pica A, Boesch N, Heinimann K, Schafer SC, Vesnaver-Megalo S, Cina V, Beckmann JS, Monnerat C. Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Fam Cancer 2011; 10: 187-192.
9. Gervasini C, Russo S, Cereda A, Parenti I, Masciadri M, Azzollini J, Meli D, Aravena T, Doray B, Ferrarini A, Garavelli L, Selicorni A, Larizza L. Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum. Am J Med Genet A 2013; 161A: 2909-2919.
10. Lava SAG, Simonetti GD, Ferrarini A, Ramelli GP, Bianchetti MG. Regional differences in symptomatic fever management among pediatricians in Switzerland: The results of a cross-sectional Web-based survey. Br J Clin Pharmacol 2013; 75: 236-243.
11. Ferrarini A, Lava SAG, Simonetti GD, Ramelli GP, Bianchetti MG; on behalf of the Swiss Italian Society of Pediatrics. Influenzavirus B-associated acute benign myalgia cruris: An outbreak report and review of the literature. Neuromuscul Disord 2014;24:342-346.
12. Uestuener P, Ferrarini A, Santi M, Mardegan C, Bianchetti MG, Simonetti GD, Milani GP, Lava SAG. Taste acceptability of pulverized brand-name and generic drugs containing amlodipine or candesartan. Int J Pharm 2014;468:196-198.
13. Siegenthaler GM, Rizzi M, Bettinelli A, Simonetti GD, Ferrarini A, Bianchetti MG. Ureteral or vesical involvement in Henoch-Schönlein syndrome: a systematic review of the literature. Pediatr Nephrol 2014; 29: 235-239.
14. Ostini A, Ramelli GP, Mainetti C, Bianchetti MG, Ferrarini A. Recurrent Finkelstein-Seidlmayer disease in four first-degree relatives. Acta Derm Venereol 2015;28:622-623.
15. Jackson CB, Bauer MF, Schaller A, Kotzaeridou U, Ferrarini A, Hahn D, Chehade H, Barbey F, Tran C, Gallati S, Haeberli A, Eggimann S, Bonafé L, Nuoffer JM. A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly. Eur J Pediatr 2016;175:517-525.
16. Capoferri G, Milani GP, Ramelli GP, Ferrarini A, Bianchetti MG. Sporadic acute benign calf myositis: Systematic literature review. Neuromuscul Disord 2018;28:443-449.
17. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental Ddisorders and epilepsy. Am J Hum Genet 2019;104:1210-1222.
18. Ferrarini A, Benetti C, Camozzi P, Ostini A, Simonetti GD, Milani GP, Bianchetti MG, Lava SA. Acute hemorrhagic edema of young children: a prospective case series. Eur J Pediatr 2016;175:557-561.
19. Ostini A, Simonetti GD, Pellanda G, Bianchetti MG, Ferrarini A, Milani GP. Familial Henoch-Schönlein syndrome. J Clin Rheumatol 2016;22:80-81.
20. Bronz G, Gabriel H, Lava SAG, Ramelli GP, Luedeke M, Biskup S, Mainetti C, Ferrarini A. Whole exome sequencing revealed a candidate gene for Finkelstein-Seidlmayer disease. Am J Pediatr 2019;5:196-199.
21. Rinoldi PO, Milani GP, Bianchetti MG, Ferrarini A, Ramelli GP, Lava SAG. Acute hemorrhagic edema of young children: open questions and perspectives. Int J Dermatol Skin Care 2019;1:63-67.
22. O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. Am J Hum Genet. 2019;104(6):1210-1222.
23. Pellanda F, Lava SAG, Milani GP, Bianchetti MG, Ferrarini A, Vanoni F. Immune deposits in skin vessels of patients with acute hemorrhagic edema of young children: a systematic literature review. Pediatr Dermatol 2020;37:120-123.
24. Malhotra A, Ferrarini A et al. De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dsymorphic features. J Med Genet 2020.
25. Lopergolo D, Privitera F, Castello G, Lo Rizzo C, Mencarelli MA, Pinto AM, Ariani F, Curro' A, Lamacchia V, Canitano R, Vaghi E, Ferrarini A, Baltodano GM, Lederer D, Van Maldergem L, Serrano M, Pineda M, Fons-Estupina MDC, Van Esch H, Breckpot J, Kumps C, Callewaer B, Mueller S, Rameli GP, Armstrong J, Renieri A, Mari F. IQSEC2 disorder: a new entity or a Rett spectrum continuum? Clin Genet 2021;99(3):462-474.
26. Betti C, Camozzi P, Gennaro V, Bianchetti MG, Scoglio M, Simonetti GD, Milani GP, Lava SAG, Ferrarini A. Atypical bacterial pathogens and small-vessel leukocytoclastic vasculitis of the skin in children: systematic literature review. Pathogens 2021;10(1):31-.

- NARRATIVE REVIEWS

27. Santoro L, Ferrarini A, Crosazzo L, Bianchetti MG. Primary vesicoureteric reflux and reflux nephropathy - new insights. Curr Pediatr Rev 2006;2:173-176.
28. Simonetti GD, Santoro L, Ferrarini A, Crosazzo-Franscini L, Fossali E, Bianchetti MG. Systemic hypertension and proteinuria in childhood chronic renal parenchymal disease. Role of antihypertensive drug management. Paediatr Drugs 2007;9:413-418.
29. Bucher BS, Ferrarini A, Weber N, Bullo M, Bianchetti MG, Simonetti GD. Primary hypertension in childhood. Curr Hypertens Report 2013;15:444-452.
30. Ferrarini A, Jacquemont S, Beck Popovic M, Bonafé L, Martinet D. Puce à ADN: pourqoui et pour qui. Rev Med Suisse 2010;237:390-396.
31. Lava SAG, Simonetti GD, Bianchetti AA, Ferrarini A, Bianchetti MG. Prevention of vitamin D insufficiency in Switzerland: A never-ending story. Int J Pharm 2013;457:353-356.
32. Ferrarini A, Bianchetti AA, Fossali EF, Faré PB, Simonetti GD, Lava SAG, Bianchetti MG. What can we do to make antihypertensive medications taste better for children? Int J Pharm 2013;457:333-336.

- LETTERS - CASE REPORT

33. Ferrarini A, Selicorni A, Cagnoli G, Zollino M, Lecce R, Chines C, Battaglia A. Distinct facial dysmorphism, pre and postnatal growth retardation, microcephaly, seizures, mental retardation and hypotonia. Ital J Pediatr 2003;29:393-397.
34. Selicorni A, Ferrarini A, Cagnoli G, Fratoni A, Bottigelli M, Milani D. Additional case of Tsukahara's syndrome or new syndrome: further delineation of the association of microcephaly and radio-ulnar synostosis Am J Med Genet 2005;132A:189-190.
35. Ferrarini A, Bottigelli M, Milani D, Cagnoli G, Selicorni A. Two new cases of Barraquer-Simons syndrome. Am J Med Gen 2004;126A:427-429.
36. Ferrarini A, Baggi M, Flückiger R, Bianchetti MG. Intraoperative anaphylaxis to a chlorhexidine polymer in chidhood. Paediatr Anaesth 2006;16:705.
37. Baldassarre E, Mendoza Sagaon M, Ferrarini A, Bianchetti MG. Severe systemic adverse reaction to proton pump inhibitors in an infant. Pediatr Pulmonol 2007;42:563-564.
38. Ferrarini A, Blumberg D, Cortesi C, Bianchetti MG. Henoch-Schönlein syndrome and pertussis. Pediatr Infect Dis J 2007;26:661.
39. Ramelli GP, Silacci C, Ferrarini A, Cattaneo C, Visconti P, Pescia G. Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study. Dev Med Child Neurol 2008;50:953-955.
40. Ferrarini A, Ramelli GP, Bianchetti MG, Hedman J, Sharathkumar A, Shapiro A, Bourland C. Index of suspicion. Pediatr Rev 2009;30:479-485.
41. Capobianco S, Lava SA, Bianchetti MG, Martinet D, Belfiore M, Ramelli GP, Ferrarini A. Chromosomal microarray among children with intellectual disability: a useful diagnostic tool for the clinical geneticist. Dev Med Child Neurol 2014;56:290.
42. Ferrarini A, Gaillard M, Guerry F, Ramelli GP, Heidi F, Keddache CV, Wieland I, Beckmann JS, Jaquemont S, Martinet D. Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype. Am J Med Genet A. 2014;164:346-352.
43. Pellanda G, Lava SA, Ferrarini A, Ramelli GP. High prevalence of pathologic copy number variants detected by chromosomal microarray in Swiss-Italian children with autism spectrum disorders. Eur J Paediatr Neurol 2015;19:387-387.
44. Ferrarini A, Milani GP, Bianchetti MG, Lava SAG. Acute hemorrhagic edema of infancy associated with Coxsackie virus infection. Arch Pédiatr 2018;25:244.

Bronz G, Leoni-Foglia C, Lava SG, Simonetti GD, Ferrarini A. Pathologic fracture revealed a rare syndromic form of genetic lipodystrophy. Clin Dysmorphol 2020;29:53-60.

SCHOLARSHIPS - SPONSORSHIPS

2003-2004: Scholarship contributed by associations of parents with children suffering from rare diseases (Cornelia de Lange National Voluntary Association; Italian Wolf-Hirschhorn Syndrome Association) for research and assistance activities.

2004: Scholarship contributed by the association AIDWEB.org-ONLUS, for collaboration in the creation of the AIDWEB website for rare diseases.

2013: Scholarship contributed by Telethon Suisse, for a clinical collaboration with the Medical Genetics Service of the Necker-Enfants Malades hospital (Paris, France).

1.11.2012: Creation of the Pediatric Rare Diseases Fund for diagnostic and research purposes in the field of rare children's diseases (subsidised by the Kiwanis Lugano Foundation for the first year of activity).

SUPERVISION OF MASTER'S THESES FOR OBTAINING A MEDICAL DEGREE

1. Ilaria Parenti (University of Milan, 2016)

2. Sabrina Mueller (University of Basel, 2017)

3. Giogia Pellanda (University of Basel, 2017)

4. Luca Jermini (University of Basel, 2018)

5. Gabriel Bronz (University of Bern, 2018)

REVIEWER ACTIVITIES FOR SCIENTIFIC JOURNALS

European Journal of Pediatrics - Human Genetics - The Journal of Pediatrics

PARTICIPATION IN INTERNATIONAL RESEARCH CONSORTIA

1. Consortium 16p11.2:

- 16p11.2 Locus modulates response to satiety before the onset of obestity. Int J Obes 2016 40:870-876.

- Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes. Mol Psychiatry 2016; 22:836-849.

- Defining the effect of the 16p11.2 duplication on cognition, behaviour, and medical comorbidities. JAMA Psychiatry 2016; 73:20-30.

2. Consortium 15q11.2:

- Estimating the effect size of the 15q11.2 BP1-BP3 deletion and its contribution to neurodevelopmental symtoms: recommendation for practise. J Med Genet 2019;56:701-710.