43194-Vetrini, Francesco
Faculty

Francesco Vetrini, PhD

Visiting Clinical Assistant Professor of Medical & Molecular Genetics

Phone 317-278-2111
Address
IB 337
MMGE
IN
Indianapolis, IN

Bio

Dr. Francesco Vetrini earned his doctorate in Medical Genetics at the Second University Naples (Italy), and completed a postdoctoral fellowship at Baylor College of Medicine, Houston, TX.

Dr. Vetrini joined the MMGE department in 2018 as a fellow in the ABMGG Laboratory Genetics and Genomics Fellowship program, recently completed. Currently, as a Visiting Assistant Professor, he holds a dual appointment as Leader of Clinical Genomic Services of the URDC (Undiagnosed Rare Disease Center) and co-Director of the MMGE Covid-19 Testing Laboratory.  

During his Ph.D. studies in Medical Genetics between Italy (Telethon Institute/Second University of Naples) and later as a post-doc/senior scientist in the USA (Baylor College of Medicine and Jan and Dan Duncan Neurological Institute, Houston, TX), Dr. Vetrini gained extensive experience in both in vitro and in vivo models of genetic disorders, gene therapy with viral vectors for metabolic disorders and neurodegeneration. Before joining the MMGE department, he worked at Baylor Genetics as a Clinical Genomics Scientist, leading a team involved in clinical NGS data analysis, interpretation, and variant curation.  

During the past few years, he has been involved in novel disease gene discovery and characterization and has collaborated with UDN and other international institutions aimed at the characterization of molecular mechanisms underlying novel rare genetic syndromes.   

As the Leader of Clinical Genomic Services of the URDC, his major focuses are the development of protocols for genomic assessment of patients by integrating Genomics and Transcriptomics, the development of collaborations for functional studies of candidate genes and variants of clinical and therapeutic interest, co-leading the Medical Genetics Genome Board with Dr. Erin Conboy. Dr.Vetrini’s overarching goal is to end the diagnostic odyssey for patients and families by using an integrated multi-omics approach, which not only will improve our understanding of the molecular basis of genetic disorders but will ultimately improve patient care while providing the families with definitive answers.

As co-director of the MMGE Covid-19 Testing Laboratory, Dr. Vetrini oversees the operational and personnel management of the lab, tracks performance data and metrics, performs troubleshooting, leads/assists research projects, and validates proficiency testing. In his free time, he enjoys reading, playing guitar, and spending time with his family in outdoor activities.

Key Publications

Shibao C., Phillips JA, Joy DC, Hamid R, Vetrini F, Sheehan J, Yang Y, Black B, Robertson D, Biaggioni I. Familial Autonomic Ganglionopathy Caused by Rare CHRNA3 Genetic Variants (2021, In press: MS ID#: NEUROLOGY/2019/047589)

Younger G*, Vetrini F*, Weaver DD, Lynnes TC, Treat K, Pratt VM, Torres-Martinez W. EVEN-PLUS syndrome: A case report with novel variants in HSPA9 and evidence of HSPA9 gene dysfunction. Am J Med Genet A. 2020 Nov;182(11):2501-2507. doi: 10.1002/ajmg.a.61808. Epub 2020 Sep 1. PMID: 32869452.* equal contribution

Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network, Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, WesterfieldM, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. PMID: 33232675; PMCID: PMC7820627.

Prior TW, Bayrak-Toydemir P, Lynnes TC, Mao R, Metcalf JD, Muralidharan K, Iwata-Otsubo A, Pham HT, Pratt VM, Qureshi S, Requesens D, Shen J, Vetrini F, Kalman L. Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A Genetic Testing Reference Materials Coordination Program Collaborative Project. J Mol Diagn. 2021 Jan;23(1):103-110. doi: 10.1016/j.jmoldx.2020.10.011. Epub 2020 Nov 14. PMID: 33197628.

Cao Y, Manning M, Pope K, He W, Vetrini F, Siskind C, Rosenfeld JA, Yang Y, Xiao R. Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia. Clin Genet. 2021 Mar;99(3):477-480. doi: 10.1111/cge.13870. Epub 2020 Nov 13. PMID: 33188530.

Castelluccio VJ*, Vetrini F*, Lynnes T, Jones J, Holloway L, Belonis A, Breman AM, Graham BH, Sapp K, Wilson T, Schwartz CE, Pratt VM, Weaver DD. An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3. Am J Med Genet A. 2019 Dec;179(12):2357-2364. doi: 10.1002/ajmg.a.61353. Epub 2019 Sep 12. PMID: 31512387.*equal contribution.

Yuan B, Wang L, Liu P, Shaw C, Dai H, Cooper L, Zhu W, Anderson SA, Meng L, Wang X, Wang Y, Xia F, Xiao R, Braxton A, Peacock S, Schmitt E, Ward PA, Vetrini F, He W, Chiang T, Muzny D, Gibbs RA, Beaudet AL, Breman AM, Smith J, Cheung SW, Bacino CA, Eng CM, Yang Y, Lupski JR, Bi W. CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 Oct;22(10):1633-1641. doi: 10.1038/s41436-020-0864-8. Epub 2020 Jun 24. PMID: 32576985.

Liu P, Meng L, Normand EA, Xia F, Song X, Ghazi A, Rosenfeld J, Magoulas PL, Braxton A, Ward P, Dai H, Yuan B, Bi W, Xiao R, Wang X, Chiang T, Vetrini F, He W, Cheng H, Dong J, Gijavanekar C, Benke PJ, Bernstein JA, Eble T, Eroglu Y, Erwin D, Escobar L, Gibson JB, Gripp K, Kleppe S, Koenig MK, Lewis AM, Natowicz M, Mancias P, Minor L, Scaglia F, Schaaf CP, Streff H, Vernon H, Uhles CL, Zackai EH, Wu N, Sutton VR, Beaudet AL, Muzny D, Gibbs RA, Posey JE, Lalani S, Shaw C, Eng CM, Lupski JR, Yang Y. Reanalysis of Clinical Exome Sequencing Data. N Engl J Med. 2019 Jun 20;380(25):2478-2480. doi: 10.1056/NEJMc1812033. PMID: 31216405; PMCID: PMC6934160.

Dharmadhikari AV, Ghosh R, Yuan B, Liu P, Dai H, Al Masri S, Scull J, Posey JE, Jiang AH, He W, Vetrini F, Braxton AA, Ward P, Chiang T, Qu C, Gu S, Shaw CA, Smith JL, Lalani S, Stankiewicz P, Cheung SW, Bacino CA, Patel A, Breman AM, Wang X, Meng L, Xiao R, Xia F, Muzny D, Gibbs RA, Beaudet AL, Eng CM, Lupski JR, Yang Y, Bi W. Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases. Genome Med. 2019 May 17;11(1):30. doi: 10.1186/s13073-019-0639-5. PMID: 31101064; PMCID: PMC6525387.

Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study, Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Erratum in: Genome Med. 2019 Mar 25;11(1):16. PMID: 30819258; PMCID: PMC6393995.

Karolak JA, Vincent M, Deutsch G, Gambin T, Cogné B, Pichon O, Vetrini F, Mefford HC, Dines JN, Golden-Grant K, Dipple K, Freed AS, Leppig KA, Dishop M, Mowat D, Bennetts B, Gifford AJ, Weber MA, Lee AF, Boerkoel CF, Bartell TM, Ward-Melver C, Besnard T, Petit F, Bache I, Tümer Z, Denis-Musquer M, Joubert M, Martinovic J, Bénéteau C, Molin A, Carles D, André G, Bieth E, Chassaing N, Devisme L, Chalabreysse L, Pasquier L, Secq V, Don M, Orsaria M, Missirian C, Mortreux J, Sanlaville D, Pons L, Küry S, Bézieau S, Liet JM, Joram N, Bihouée T, Scott DA, Brown CW, Scaglia F, Tsai AC, Grange DK, Phillips JA 3rd, Pfotenhauer JP, Jhangiani SN, Gonzaga-Jauregui CG, Chung WK, Schauer GM, Lipson MH, Mercer CL, van Haeringen A, Liu Q, Popek E, Coban Akdemir ZH, Lupski JR, Szafranski P, Isidor B, Le Caignec C, Stankiewicz P. Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway. Am J Hum Genet. 2019 Feb 7;104(2):213-228. doi: 10.1016/j.ajhg.2018.12.010. Epub 2019 Jan 10. PMID: 30639323; PMCID: PMC6369446.

Rehman AU, Najafi M, Kambouris M, Al-Gazali L, Makrythanasis P, Rad A, Maroofian R, Rajab A, Stark Z, Hunter JV, Bakey Z, Tokita MJ, He W, Vetrini F, Petersen A, Santoni FA, Hamamy H, Wu K, Al-Jasmi F, Helmstädter M, Arnold SJ, Xia F, Richmond C, Liu P, Karimiani EG, Karami Madani G, Lunke S, El-Shanti H, Eng CM, Antonarakis SE, Hertecant J, Walkiewicz M, Yang Y, Schmidts M. Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function. Hum Mutat. 2019 Mar;40(3):267-280. doi: 10.1002/humu.23694. Epub 2018 Dec 25. PMID: 30520571; PMCID: PMC6370506.

Normand EA, Braxton A, Nassef S, Ward PA, Vetrini F, He W, Patel V, Qu C, Westerfield LE, Stover S, Dharmadhikari AV, Muzny DM, Gibbs RA, Dai H, Meng L, Wang X, Xiao R, Liu P, Bi W, Xia F, Walkiewicz M, Van den Veyver IB, Eng CM, Yang Y. Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder. Genome Med. 2018 Sep 28;10(1):74. doi: 10.1186/s13073-018-0582-x. PMID: 30266093; PMCID: PMC6162951.

Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. PMID: 30349862; PMCID: PMC6186933.

Zhu W, Li J, Chen S, Zhang J, Vetrini F, Braxton A, Eng CM, Yang Y, Xia F, Keller KL, Okinaka-Hu L, Lee C, Holder JL Jr, Bi W. Two de novo novel mutations in one SHANK3 allele in a patient with autism and moderate intellectual disability. Am J Med Genet A. 2018 Apr;176(4):973-979. doi: 10.1002/ajmg.a.38622. Epub 2018 Feb 9. PMID: 29423971; PMCID: PMC5956516.

Meng L, Pammi M, Saronwala A, Magoulas P, Ghazi AR, Vetrini F, Zhang J, He W, Dharmadhikari AV, Qu C, Ward P, Braxton A, Narayanan S, Ge X, Tokita MJ, Santiago-Sim T, Dai H, Chiang T, Smith H, Azamian MS, Robak L, Bostwick BL, Schaaf CP, Potocki L, Scaglia F, Bacino CA, Hanchard NA, Wangler MF, Scott D, Brown C, Hu J, Belmont JW, Burrage LC, Graham BH, Sutton VR, Craigen WJ, Plon SE, Lupski JR, Beaudet AL, Gibbs RA, Muzny DM, Miller MJ, Wang X, Leduc MS, Xiao R, Liu P, Shaw C, Walkiewicz M, Bi W, Xia F, Lee B, Eng CM, Yang Y, Lalani SR. Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. JAMA Pediatr. 2017 Dec 4;171(12):e173438. doi: 10.1001/jamapediatrics.2017.3438. Epub 2017 Dec 4. PMID: 28973083; PMCID: PMC6359927.

Stankiewicz P, Khan TN, Szafranski P, Slattery L, Streff H, Vetrini F, Bernstein JA, Brown CW, Rosenfeld JA, Rednam S, Scollon S, Bergstrom KL, Parsons DW, Plon SE, Vieira MW, Quaio CRDC, Baratela WAR, Acosta Guio JC, Armstrong R, Mehta SG, Rump P, Pfundt R, Lewandowski R, Fernandes EM, Shinde DN, Tang S, Hoyer J, Zweier C, Reis A, Bacino CA, Xiao R, Breman AM, Smith JL; Deciphering Developmental Disorders Study, Katsanis N, Bostwick B, Popp B, Davis EE, Yang Y. Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21. PMID: 28942966; PMCID: PMC5630163.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Erratum in: Hum Genet. 2017 Jun 28;: PMID: 28251352; PMCID: PMC5543723.

Vetrini F, D'Alessandro LC, Akdemir ZC, Braxton A, Azamian MS, Eldomery MK, Miller K, Kois C, Sack V, Shur N, Rijhsinghani A, Chandarana J, Ding Y, Holtzman J, Jhangiani SN, Muzny DM, Gibbs RA, Eng CM, Hanchard NA, Harel T, Rosenfeld JA, Belmont JW, Lupski JR, Yang Y. Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in Humans. Am J Hum Genet. 2016 Oct 6;99(4):886-893. doi: 10.1016/j.ajhg.2016.07.011. Epub 2016 Sep 8. PMID: 27616478; PMCID: PMC5065643.

Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, Zhu W, Ding Y, Pan S, Vetrini F, Miyake CY, Shinawi M, Gambin T, Eldomery MK, Akdemir ZH, Emrick L, Wilnai Y, Schelley S, Koenig MK, Memon N, Farach LS, Coe BP, Azamian M, Hernandez P, Zapata G, Jhangiani SN, Muzny DM, Lotze T, Clark G, Wilfong A, Northrup H, Adesina A, Bacino CA, Scaglia F, Bonnen PE, Crosson J, Duis J, Maegawa GH, Coman D, Inwood A, McGill J, Boerwinkle E, Graham B, Beaudet A, Eng CM, Hanchard NA, Xia F, Orange JS, Gibbs RA, Lupski JR, Yang Y. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 Feb 4;98(2):347-57. doi: 10.1016/j.ajhg.2015.12.008. Epub 2016 Jan 21. PMID: 26805781; PMCID: PMC4746334.

Pastore N, Nusco E, Piccolo P, Castaldo S, Vaníkova J, Vetrini F, Palmer DJ, Vitek L, Ng P, Brunetti-Pierri N. Improved efficacy and reduced toxicity by ultrasound-guided intrahepatic injections of helper-dependent adenoviral vector in Gunn rats. Hum Gene Ther Methods. 2013 Oct;24(5):321-7. doi: 10.1089/hgtb.2013.108. PMID: 23947957.

Settembre C, De Cegli R, Mansueto G, Saha PK, Vetrini F, Visvikis O, Huynh T, Carissimo A, Palmer D, Klisch TJ, Wollenberg AC, Di Bernardo D, Chan L, Irazoqui JE, Ballabio A. TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop. Nat Cell Biol. 2013 Jun;15(6):647-58. doi: 10.1038/ncb2718. Epub 2013 Apr 21. Erratum in: Nat Cell Biol. 2013 Aug;15(8):1016. PMID: 23604321; PMCID: PMC3699877.

Pastore N, Blomenkamp K, Annunziata F, Piccolo P, Mithbaokar P, Maria Sepe R, Vetrini F, Palmer D, Ng P, Polishchuk E, Iacobacci S, Polishchuk R, Teckman J, Ballabio A, Brunetti-Pierri N. Gene transfer of master autophagy regulator TFEB results in clearance of toxic protein and correction of hepatic disease in alpha-1-anti-trypsin deficiency. EMBO Mol Med. 2013 Mar;5(3):397-412. doi: 10.1002/emmm.201202046. Epub 2013 Feb 4. PMID: 23381957; PMCID: PMC3598080.

Piccolo P, Vetrini F, Mithbaokar P, Grove NC, Bertin T, Palmer D, Ng P, Brunetti-Pierri N. SR-A and SREC-I are Kupffer and endothelial cell receptors for helper-dependent adenoviral vectors. Mol Ther. 2013 Apr;21(4):767-74. doi: 10.1038/mt.2012.287. Epub 2013 Jan 29. PMID: 23358188; PMCID: PMC3616528.

Pastore N, Nusco E, Vaníkova J, Sepe RM, Vetrini F, McDonagh A, Auricchio A, Vitek L, Brunetti-Pierri N. Sustained reduction of hyperbilirubinemia in Gunn rats after adeno-associated virus-mediated gene transfer of bilirubin UDP-glucuronosyltransferase isozyme 1A1 to skeletal muscle. Hum Gene Ther. 2012 Oct;23(10):1082-9. doi: 10.1089/hum.2012.018. Epub 2012 Aug 27. PMID: 22765254.

Settembre C, Zoncu R, Medina DL, Vetrini F, Erdin S, Erdin S, Huynh T, Ferron M, Karsenty G, Vellard MC, Facchinetti V, Sabatini DM, Ballabio A. A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB. EMBO J. 2012 Mar 7;31(5):1095-108. doi: 10.1038/emboj.2012.32. Epub 2012 Feb 17. PMID: 22343943; PMCID: PMC3298007.

Rosewell A, Vetrini F, Ng P. Helper-Dependent Adenoviral Vectors. J Genet Syndr Gene Ther. 2011 Oct 29;Suppl 5:001. doi: 10.4172/2157-7412.s5-001. PMID: 24533227; PMCID: PMC3923448.

Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A. TFEB links autophagy to lysosomal biogenesis. Science. 2011 Jun 17;332(6036):1429-33. doi: 10.1126/science.1204592. Epub 2011 May 26. PMID: 21617040; PMCID: PMC3638014.

Khare R, May SM, Vetrini F, Weaver EA, Palmer D, Rosewell A, Grove N, Ng P, Barry MA. Generation of a Kupffer cell-evading adenovirus for systemic and liver-directed gene transfer. Mol Ther. 2011 Jul;19(7):1254-62. doi: 10.1038/mt.2011.71. Epub 2011 Apr 19. PMID: 21505422; PMCID: PMC3129569.

Vetrini F, Ng P. Liver-directed gene therapy with helper-dependent adenoviral vectors: current state of the art and future challenges. Curr Pharm Des. 2011;17(24):2488-99. doi: 10.2174/138161211797247532. PMID: 21774769.

Prill JM, Espenlaub S, Samen U, Engler T, Schmidt E, Vetrini F, Rosewell A, Grove N, Palmer D, Ng P, Kochanek S, Kreppel F. Modifications of adenovirus hexon allow for either hepatocyte detargeting or targeting with potential evasion from Kupffer cells. Mol Ther. 2011 Jan;19(1):83-92. doi: 10.1038/mt.2010.229. Epub 2010 Oct 19. PMID: 20959811; PMCID: PMC3017454.

Vetrini F, Ng P. Gene therapy with helper-dependent adenoviral vectors: current advances and future perspectives. Viruses. 2010 Sep;2(9):1886-917. doi: 10.3390/v2091886. Epub 2010 Sep 3. PMID: 21994713; PMCID: PMC3186006.

Vetrini F, Brunetti-Pierri N, Palmer DJ, Bertin T, Grove NC, Finegold MJ, Ng P. Vasoactive intestinal peptide increases hepatic transduction and reduces innate immune response following administration of helper-dependent Ad. Mol Ther. 2010 Jul;18(7):1339-45. doi: 10.1038/mt.2010.84. Epub 2010 May 11. PMID: 20461064; PMCID: PMC2911263.

Giordano F, De Marzo A, Vetrini F, Marigo V. Fibroblast growth factor and epidermal growth factor differently affect differentiation of murine retinal stem cells in vitro. Mol Vis. 2007 Oct 2;13:1842-50. PMID: 17960120.
Vetrini F, Tammaro R, Bondanza S, Surace EM, Auricchio A, De Luca M, Ballabio A, Marigo V. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat. 2006 May;27(5):420-6. doi: 10.1002/humu.20303. PMID: 16550551.

Vetrini F, Auricchio A, Du J, Angeletti B, Fisher DE, Ballabio A, Marigo V. The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. Mol Cell Biol. 2004 Aug;24(15):6550-9. doi: 10.1128/MCB.24.15.6550-6559.2004. PMID: 15254223; PMCID: PMC444869.

Titles & Appointments

  • Visiting Clinical Assistant Professor of Medical & Molecular Genetics
  • Leader, Clinical Genomic Services of the URDC
  • Co-Director, MMGE COVID-19 Testing Laboratory
  • Education
    2007 PhD Second University of Naples
    2000 MSc University of Naples Federico II
  • Research
    Novel gene/ syndrome discovery, molecular mechanisms of disease, genotype-phenotype relationship, pharmacogenomics, rare and orphan diseases, polygenic inheritance, the identification of novel candidate genes and variants of potential clinical, diagnostic and therapeutic interest.
  • Professional Organizations
    ACMGG

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