Catalogo dei Corsi di studio

ISTRUZIONE

Date Da Novembre 2009 al 11 Luglio 2014
Nome e tipo di istituto di istruzione o formazione Specializzazione in Genetica Medica, presso la Sapienza Università di Roma
Voto 70/70 e lode
Principali materie / abilità professionali oggetto dello studio Genetica Medica
Qualifica conseguita Specialista in Genetica Medica

Date Da Novembre 2005 al 19 Maggio 2009
Nome e tipo di istituto di istruzione o formazione Dottorato in Genetica Medica, presso la Sapienza Università di Roma
Titolo della tesi Innovazioni tecnologiche per lo studio della complessità del genoma umano
Principali materie / abilità professionali oggetto dello studio Genetica Medica
Qualifica conseguita Ph.D in Genetica Medica

Date 21-07-2004
Nome e tipo di istituto di istruzione o formazione Corso di Laurea in Scienze Biologiche presso la Sapienza Università di Roma
Titolo della tesi Analisi mutazionale del gene NF1 in pazienti italiani affetti da neurofibromatosi di tipo 1; analisi funzionale delle varianti di splicing
Qualifica conseguita Laurea In scienze Biologiche, indirizzo Biomolecolare. Votazione: 107/110

Date 1998
Nome e tipo di istituto di istruzione o formazione Istruzione secondaria superiore presso il Liceo Scientifico Statale Morgagni di Roma
Qualifica conseguita Diploma di Maturità Scientifica

ESPERIENZA LAVORATIVA-PROFESSIONALE

Date Dal 10 Ottobre 2022, ad oggi
Nome del datore di lavoro Sapienza Università di Roma, Dipartimento di Medicina Sperimentale, in convenzione con UOC Laboratorio di Genetica Medica A.O. San Camillo-Forlanini (Roma)
Tipo di impiego RTDB, con regime di impegno a tempo pieno, per il settore scientifico disciplinare MED/03

PUBBLICAZIONI
su riviste scientifiche contenute in banche dati internazionali

1. Azzarà A , Rumore R, Brugnoletti F, Tabolacci E , Bottillo I, Sangiorgi E, and Gurrieri F. RADX Gene Variant May Predispose to Familial Asperger Syndrome. Genes (Basel). 2022 (IN PRESS)
IF: 4.141
2. Shi X, Wang H, Zhang R, Liu Z, Guo W, Wang S, Liu X, Lang Y, Bottillo I, Dong B, Shao L. Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome. Mol Genet Genomic Med. 2023 Jan 3:e2128. doi: 10.1002/mgg3.2128PMID: 36597580
IF: 2.473
3. Di Giosaffatte N, Ferraris A, Gaudioso F, Lodato V, Savino E, Celletti C, Camerota F, Bargiacchi S, Laino L, Majore S, Bottillo I, Grammatico P. Congenital Defects in a Patient Carrying a Novel Homozygous AEBP1 Variant: Further Expansion of the Phenotypic Spectrum of Ehlers-Danlos Syndrome Classical-like Type 2? Genes (Basel). 2022 Dec 14;13(12):2358. doi: 10.3390/genes13122358. PMID: 36553625
IF: 4.141
4. Lintas C , Bottillo I , Sacco R, Azzarà A, Cassano I, Ciccone MP, Grammatico P, Gurrieri F. Expanding the Spectrum of KDM5C Neurodevelopmental Disorder: A Novel De Novo Stop Variant in a Young Woman and Emerging Genotype-Phenotype Correlations. Genes (Basel). 2022 Dec 1;13(12):2266. doi: 10.3390/genes13122266. PMID: 36553533 ( These authors contributed equally to this work)
IF: 4.141
5. Bottillo I*, Savino E, Majore S, Mulargia C, Valiante M, Ferraris A, Rossi V, Svegliati F, Ciccone MP, Brusco F, Grammatico B, Di Giacomo G, Bargiacchi S, D'Angelantonio D, Grammatico P Two unrelated cases with biallelic CHEK2 variants:a novel condition with constitutional chromosomal instability? Eur J Hum Genet. 2022 Dec 19. doi: 10.1038/s41431-022-01270-z. PMID: 36529819 (* corresponding author)
IF: 5.351
6. D'Angelantonio D, Majore S, Di Netta T, Zotta F, Parise G, Savino E, Rosignoli S, Bizzarri B, Signore F, Grammatico P, Bottillo I*. Severe Bartter syndrome type 1: Prompt postnatal management thanks to antenatal identification of SLC12A1 pathogenic variants. Arch Pediatr. 2022 Sep 1:S0929-693X(22)00178-6. doi: 10.1016/j.arcped.2022.08.011 (* corresponding author)
IF: 1.820
7. Di Giosaffatte N , Valiante M, Tricarico S, Parise G, De Negri AM, Ricciotti G, Florean L, Paiardini A , Bottillo I* and Grammatico P. A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report. Genes (Basel). 2022 Jul 17;13(7):1268. doi: 10.3390/genes13071268. (* corresponding author)
IF: 4.141

8. Di Giosaffatte N, Bottillo I*, Laino L, Iaquinta G, Ferraris A, Garzia M, Bargiacchi S, Mulargia C, Angelitti MR, Palumbo F, Grammatico B, Bartolelli C, Salerno MG, Rigacci L, Grammatico P. Discordant cfDNA-NIPT result unraveling a trisomy 12 chronic lymphocytic leukemia in a 37 years old pregnant woman. Prenat Diagn. 2022 May 4 (* corresponding author)
IF:2.33

9. Nicolazzo C, Gelibter A, Bottillo I, Belardinilli F, Pisegna S, De Renzi G, Marinelli D, Grammatico P, Cortesi E, Giannini G, Gazzaniga P. Comparison of Two Blood-Based Genotyping Tests to Investigate the KRAS G12C Mutation in Patients with Non-Small-Cell Lung Cancer at Failure of First-Line Treatments. Diagnostics (Basel). 2021 Nov 25;11(12):2196. doi: 10.3390/diagnostics11122196. PMID: 34943432
IF: 3.706

10. Digilio MC, Dentici ML, Loddo S, Laino L, Calcagni G, Genovese S, Capolino R, Bottillo I, Calvieri G, Dallapiccola B, Marino B, Novelli A, Versacci P. Congenital heart defects in the recurrent 2q13 deletion syndrome. Eur J Med Genet. 2021 Nov 8:104381. doi: 10.1016/j.ejmg.2021.104381
IF: 2.708

11. Zhang R, Chen Z, Song Q, Wang S, Liu Z, Zhao X, Shi X, Guo W, Lang Y, Bottillo I, Shao L. Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay.
Hum Mutat. 2021 Sep;42(9):1153-1164. doi: 10.1002/humu.24246. Epub 2021 Jun 30.
IF: 4.878

12. Nicolazzo C, Barault L, Caponnetto S, De Renzi G, Belardinilli F, Bottillo I, Bargiacchi S, Macagno M, Grammatico P, Giannini G, Cortesi E, Di Nicolantonio F, Gazzaniga P. True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. Cancer Lett. 2021 Mar 17;S0304-3835(21)00119-1. doi: 10.1016/j.canlet.2021.03.014. Online ahead of print.
IF: 8.679

13. Pontecorvi P, Bernardini L, Capalbo A, Ceccarelli S, Megiorni F, Vescarelli E, Bottillo I, Preziosi N, Fabbretti M, Perniola G, Benedetti Panici P, Pizzuti A, Grammatico P, Marchese C. Protein-protein interaction network analysis applied to DNA copy number profiling suggests new perspectives on the aetiology of Mayer-Rokitansky-Küster-Hauser syndrome. Sci Rep. 2021 Jan 11;11(1):448
IF: 4.379

14. Mosca S, Cardinali G, Flori E, Briganti S, Bottillo I, Mileo AM, Maresca V. The PI3K pathway induced by MSH exerts a negative feed-back on melanogenesis and contributes to the release of pigment. Pigment Cell Melanoma Res. Pigment Cell Melanoma Res 2021 Jan;34(1):72-88
IF:4.172

15. De Simone P, Bottillo I, Valiante M, Iorio A, De Bernardo C, Majore S, D'Angelantonio D, Valentini T, Sperduti I, Piemonte P, Eibenschutz L, Ferrari A, Carbone A, Buccini P, Paiardini A, Silipo V, Frascione P, Grammatico P. A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes. Int J Mol Sci. 2020 Dec 11;21(24):9432
IF: 4.556

16. Wang S, Wang Y, Wang J, Liu Z, Zhang R, Shi X, Han Y, Guo W, Bottillo I, Shao L. Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay. Front Genet. 2020 Nov 5;11:585064
IF:3.789

17. Bottillo I, Valiante M, Menale L, Paiardini A, Papi L, Janson G, Sestini R, Iorio A, De Simone P, Frascione P, Grammatico P. A novel CDKN2A in-frame deletion associated with pancreatic cancer-melanoma syndrome. Dermatol Online J. 2020 Aug 15;26(8)
IF:0.74

18. Pascolini G, Valiante M, Bottillo I, Laino L, Ferraris A, Grammatico P, Fleischer N. Answer to Letter to the Editor regarding the article "Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion". Eur J Med Genet. 2020 Jun 20:103993. doi: 10.1016/j.ejmg.2020.103993.
IF:2.022

19. Malapelle U, Pepe F, Pisapia P, Sgariglia R, Nacchio M, De Luca C, Lacalamita R, Tommasi S, Pinto R, Palomba G, Palmieri G, Vacirca D, Barberis M, Bottillo I, Grammatico P, Grillo LR, Costa V, Smeraglio R, Bruzzese D, Troncone G. Harmonization of Next-Generation Sequencing Procedure in Italian Laboratories: A Multi-Institutional Evaluation of the SiRe® Panel. Front Oncol. 2020 Mar 11;10:236.
IF:2.53

20. Lipari M, Wypasek E, Karpinski M, Tomkiewicz-Pajak L, Laino L, Binni F, Giannarelli D, Rubis P, Petkow-Dimitrow P, Undas A, Grammatico P, Bottillo I*. Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of polish cases affected by hypertrophic cardiomyopathy. Pol Arch Intern Med. 2020 Feb 27;130(2):89-99. doi: 10.20452/pamw.15130. (* corresponding author)
IF:2.882

21. Pascolini G, Valiante M, Bottillo I, Laino L, Fleischer N, Ferraris A, Grammatico P. Striking phenotypic overlap between Nicolaides-Baraitser and Coffin-Siris syndromes in monozygotic twins with ARID1B intragenic deletion. Eur J Med Genet. 2019 Aug 14:103739. doi: 10.1016/j.ejmg.2019.103739.
IF:2.022

22. Han Y, Zhao X, Wang S, Wang C, Tian D, Lang Y, Bottillo I, Wang X, Shao L. Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I. Endocrine. 2019 Jun;64(3):708-718. doi: 10.1007/s12020-019-01856-6. Epub 2019 Feb 21.
IF:3.179

23. Pascolini G, Majore S, Valiante M, Bottillo I, Laino L, Agolini E, Novelli A, Grammatico B, Calvani M, Grammatico P. Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene. Psychiatr Genet. 2019 Jun;29(3):86-90. doi: 10.1097/YPG.0000000000000217.
IF:1.586

24. Zhang R, Wang J, Wang Q, Han Y, Liu X, Bottillo I, Lang Y, Shao L. Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report. BMC Med Genet. 2018 Sep 20;19(1):173. doi: 10.1186/s12881-018-0686-6.
IF:1.913

25. Lu J, Zhao X, Paiardini A, Lang Y, Bottillo I, Shao L. Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report. BMC Nephrol. 2018 Jul 13;19(1):181.
IF:2,77

26. Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome. Eur J Hum Genet. 2018 Jun 11. doi: 10.1038/s41431-018-0183-6
IF:4,287

27. Shao L, Cui L, Lu J, Lang Y, Bottillo I, Zhao X. The novel mutation in exon 9 of cullin 3 gene contributes to aberrant splicing in pseudohypoaldosteronism type II. FEBS open bio. Accepted manuscript online: 24 January 2018. DOI: 10.1002/2211-5463.12389
IF:2,143

28. Bottillo I*, La Starza R, Radio FC, Molica C, Pedace L, Pierini T, De Bernardo C, Stingeni L, Bargiacchi S, Paiardini A, Janson G, Mecucci C, Grammatico P. A novel germline mutation in CDK4 codon 24 associated to familial melanoma. Clin Genet. 2017 Nov 10. doi: 10.1111/cge.13129 (* corresponding author)
IF:3,326

29. Gerbino A, Bottillo I*, Milano S, Lipari M, Zio R, Morlino S, Mola MG, Procino G, Re F, Zachara E, Grammatico P, Svelto M, Carmosino M. Functional Characterization of a Novel Truncating Mutation in Lamin A/C Gene in a Family with a Severe Cardiomyopathy with Conduction Defects. Cell Physiol Biochem. 2017;44(4):1559-1577. doi: 10.1159/000485651. Epub 2017 Dec 4 (*Gerbino A. and Bottillo I. share authorship)
IF:5,104

30. Zhao X, Cui L, Lang Y, Liu T, Lu J, Wang C, Tuffery-Giraud S, Bottillo I, Wang X, Shao L. A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria. Sci Rep. 2016 Sep 26;6:33920
IF:4,259

31. Bottillo I*, Giordano C, Cerbelli B, D'Angelantonio D, Lipari M, Polidori T, Majore S, Bertini E, D'Amico A, Giannarelli D, De Bernardo C, Masuelli L, Musumeci F, Avella A, Re F, Zachara E, d'Amati G, Grammatico P. A novel LAMP2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with Danon disease: a case report and literature review. Cardiovasc Pathol. 2016 Sep-Oct;25(5):423-31 (* corresponding author)
IF:2,359

32. Laino L, Bottillo I, Piedimonte C, Bernardini L, Torres B, Grammatico B, Bargiacchi S, Mulargia C, Calvani M, Cardona F, Castori M, Grammatico P. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. Eur J Paediatr Neurol. 2016 Jul 11
IF:2,068

33. Bottillo I*, D Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Majore S, Castori M, Zachara E, Re F, Grammatico P. Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy. Data Brief. 2016 Mar 10;7:607-13 (* corresponding author)
IF:1,43

34. Bottillo I*, D Angelantonio D, Caputo V, Paiardini A, Lipari M, De Bernardo C, Giannarelli D, Pizzuti A, Majore S, Castori M, Zachara E, Re F, Grammatico P. Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. Gene 2016 Feb 15;577(2):227-35 (* corresponding author)
IF:2,319

35. Castori M, Bottillo I, Morlino S, Barone C, Cascone P, Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P and Laino L. Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia and intellectual disability due to a novel ~1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16. Birth Defects Res A Clin Mol Teratol 2016 Jan;106(1):61-83
IF:1,954

36. Wang X, Zhao X, Wang X, Yao J, Zhang F, Lang Y, Tuffery-Giraud S, Bottillo I, Shao L. Two Novel HOGA1 Splicing Mutations Identified in a Chinese Patient with Primary Hyperoxaluria Type 3. Am J Nephrol. 2015 Sep 5;42(1):78-84
IF:2,605

37. 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 Digilio M, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas. Eur J Hum Genet. 2014 Nov 5
IF:4,349

38. Castori M, Bottillo I*, Laino L, Morlino S, Grammatico B, Grammatico P. An Additional Patient With 3q27.3 Microdeletion Syndrome. J Child Neurol. 2014 Jul 17 (* corresponding author)
IF:1,717

39. Laino L, Majore S, Preziosi N, Grammatico B, De Bernardo C, Scommegna S, Rapone AM, Marrocco G, Bottillo I*, Grammatico P. Endocr Connect. 2014 Dec;3(4):180-92 Disorders of sex development: a genetic study of patients in a multidisciplinary clinic. (* corresponding author)
IF:2,541

40. Castori M, Bottillo I*, D Angelantonio D, Morlino S, De Bernardo C, Scassellati Sforzolini G, Silvestri E, Grammatico P. A 22-week-old fetus with Nager syndrome and congenital diaphragmatic hernia due to a novel SF3B4 mutation. Mol Syndromol. 2014 Aug;5(5):241-4 (* corresponding author)
IF:3,17

41. Bottillo I, Castori M, De Bernardo C, Fabbri R, Grammatico B, Preziosi N, Scassellati GS, Silvestri E, Spagnuolo A, Laino L, Grammatico P. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report. BMC Res Notes. 2013 Sep 22;6:376
IF:1,88

42. Nicita F, Torrente I, Spalice A, Bottillo I, Papetti L, Pinna V, Ursitti F, Ruggieri M. Spinal neurofibromatosis in a family with classical neurofibromatosis type 1 and a novel NF1 gene mutation. J Clin Neurosci. 2014 Feb;21(2):328-30
IF:1,378

43. Pizzuti A, Bottillo I, Inzana F, Lanari V, Buttarelli F, Torrente I, Giallonardo AT, De Luca A, Dallapiccola B. Familial spinal neurofibromatosis due to a multiexonic NF1 gene deletion. Neurogenetics. 2011 Aug;12(3):233-40
IF:3,86

44. Ruggieri M, Mastrangelo M, Spalice A, Mariani R, Torrente I, Polizzi A, Bottillo I, Di Biase C, Iannetti P. Bilateral (opercular and paracentral lobular) polymicrogyria and neurofibromatosis type 1. Am J Med Genet A. 2011 Mar;155A(3):582-5
IF:2,391

45. Brancati F, Fortugno P, Bottillo I, Lopez M, Josselin E, Boudghene-Stambouli O, Agolini E, Bernardini L, Bellacchio E, Iannicelli M, Rossi A, Dib-Lachachi A, Stuppia L, Palka G, Mundlos S, Stricker S, Kornak U, Zambruno G, Dallapiccola B. Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. Am J Hum Genet. 2010 Aug 13;87(2):265-73
IF:11,680

46. Radio FC, Bernardini L, Loddo S, Bottillo I, Novelli A, Mingarelli R, Dallapiccola B. TBX2 gene duplication associated with complex heart defect and skeletal malformations. Am J Med Genet A. 2010 Aug;152A(8):2061-6
IF:2,505

47. Bottillo I, Torrente I, Lanari V, Pinna V, Giustini S, Divona L, De Luca A, Dallapiccola B. Germline mosaicism in neurofibromatosis type 1 due to a paternally derived multi-exon deletion. Am J Med Genet A. 2010 Jun;152A(6):1467-73
IF:2,505

48. Sinibaldi L, Harifi G, Bottillo I, Iannicelli M, El Hassani S, Brancati F, Dallapiccola B. A novel homozygous splice site mutation in the HPGD gene causes mild primary hypertrophic osteoarthropathy. Clin Exp Rheumatol. 2010 Mar-Apr;28(2):153-7. Epub 2010 May 13. Review
IF:2,358

49. Luigetti M, Pizzuti A, Bartoletti S, Houlden H, Pirro C, Bottillo I, Madia F, Conte A, Tonali PA, Sabatelli M. Triple A syndrome: a novel compound heterozygous mutation in the AAAS gene in an Italian patient without adrenal insufficiency. J Neurol Sci. 2010 Mar 15;290(1-2):150-2. Epub 2010 Jan 6
IF:2,167

50. Bernardini L, Alesi V, Loddo S, Novelli A, Bottillo I, Battaglia A, Digilio MC, Zampino G, Ertel A, Fortina P, Surrey S, Dallapiccola B. High-resolution SNP arrays in mental retardation diagnostics: how much do we gain? Eur J Hum Genet. 2010 Feb;18(2):178-85. Epub 2009 Oct 7
IF:4,380

51. Bernardini L, Sinibaldi L, Capalbo A, Bottillo I, Mancuso B, Torres B, Novelli A, Digilio MC, Dallapiccola B. HDR (Hypoparathyroidism, Deafness, Renal dysplasia) syndrome associated to GATA3 gene duplication. Clin Genet. 2009 Jul;76(1):117-9
IF:3,304

52. Bottillo I, Ahlquist T, Brekke H, Danielsen SA, van den Berg E, Mertens F, Lothe RA, Dallapiccola B. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours. J Pathol. 2009 Apr;217(5):693-701
IF:6,466

53. Carbone A, Bernardini L, Valenzano F, Bottillo I, De Simone C, Capizzi R, Capalbo A, Romano F, Novelli A, Dallapiccola B, Amerio P. Array-based comparative genomic hybridization in early-stage mycosis fungoides: recurrent deletion of tumor suppressor genes BCL7A, SMAC/DIABLO, and RHOF. Genes Chromosomes Cancer. 2008 Dec;47(12):1067-75
IF:3,952

54. Ahlquist T, Bottillo I, Danielsen SA, Meling GI, Rognum TO, Lind GE, Dallapiccola B, Lothe RA. RAS signaling in colorectal carcinomas through alteration of RAS, RAF, NF1, and/or RASSF1A. Neoplasia. 2008 Jul;10(7):680-6, 2 p following 686
IF:5,191

55. Bernardini L, Palka C, Ceccarini C, Capalbo A, Bottillo I, Mingarelli R, Novelli A, Dallapiccola B. Complex rearrangement of chromosomes 7q21.13-q22.1 confirms the ectrodactyly-deafness locus and suggests new candidate genes. Am J Med Genet A. 2008 Jan 15;146A(2):238-44
IF:2,555

56. De Luca A, Bottillo I, Dasdia MC, Morella A, Lanari V, Bernardini L, Divona L, Giustini S, Sinibaldi L, Novelli A, Torrente I, Schirinzi A, Dallapiccola B. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification. J Med Genet. 2007 Dec;44(12):800-8
IF:5,535

57. Sarkozy A, Schirinzi A, Lepri F, Bottillo I, De Luca A, Pizzuti A, Tartaglia M, Digilio MC, Dallapiccola B. Clinical lumping and molecular splitting of LEOPARD and NF1/NF1-Noonan syndromes. Am J Med Genet A. 2007 May 1;143A(9):1009-11
IF:2,440

58. Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Functional analysis of splicing mutations in exon 7 of NF1 gene. BMC Med Genet. 2007 Feb 12;8:4
IF:2,419

59. De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B. NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6):1092-101. Epub 2005 Oct 26
IF:12,649

60. De Luca A, Schirinzi A, Buccino A, Bottillo I, Sinibaldi L, Torrente I, Ciavarella A, Dottorini T, Porciello R, Giustini S, Calvieri S, Dallapiccola B. Novel and recurrent mutations in the NF1 gene in Italian patients with neurofibromatosis type 1. Hum Mutat. 2004 Jun;23(6):629
IF:6,845