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Riccardo Sangermano, Ph.D.


Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Sangermano R, Biswas P, Sullivan LS, Place EM, Borooah S, Straubhaar J, Pierce EA, Daiger SP, Bujakowska KM, Ayaggari R. Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration. Cold Spring Harb Mol Case Stud. 2022 12; 8(7). PMID: 36376065; PMCID: PMC9808551.
    Citations:    Fields:    Translation:Humans
  2. Catomeris AJ, Ballios BG, Sangermano R, Wagner NE, Comander JI, Pierce EA, Place EM, Bujakowska KM, Huckfeldt RM. Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy. Ophthalmic Genet. 2022 06; 43(3):332-339. PMID: 35057699; PMCID: PMC9177531.
    Citations:    Fields:    Translation:Humans
  3. Sangermano R, Deitch I, Peter VG, Ba-Abbad R, Place EM, Zampaglione E, Wagner NE, Fulton AB, Coutinho-Santos L, Rosin B, Dunet V, AlTalbishi A, Banin E, Sousa AB, Neves M, Larson A, Quinodoz M, Michaelides M, Ben-Yosef T, Pierce EA, Rivolta C, Webster AR, Arno G, Sharon D, Huckfeldt RM, Bujakowska KM. Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ Genom Med. 2021 Jun 29; 6(1):53. PMID: 34188062; PMCID: PMC8242099.
  4. Bronstein R, Capowski EE, Mehrotra S, Jansen AD, Navarro-Gomez D, Maher M, Place E, Sangermano R, Bujakowska KM, Gamm DM, Pierce EA. A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families. Hum Mol Genet. 2020 04 15; 29(6):967-979. PMID: 32011687.
    Citations: 6     Fields:    Translation:Humans
  5. Rosa L, Lepanto MS, Cutone A, Ianiro G, Pernarella S, Sangermano R, Musci G, Ottolenghi L, Valenti P. Lactoferrin and oral pathologies: a therapeutic treatment. Biochem Cell Biol. 2021 02; 99(1):81-90. PMID: 32213143.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  6. Khan M, Cornelis SS, Sangermano R, Post IJM, Groesbeek AJ, Amsu J, Gilissen C, Garanto A, Collin RWJ, Cremers FPM. In or Out? New Insights on Exon Recognition through Splice-Site Interdependency. Int J Mol Sci. 2020 03 26; 21(7). PMID: 32225107.
    Citations: 4     Fields:    Translation:HumansCells
  7. Runhart EH, Valkenburg D, Cornelis SS, Khan M, Sangermano R, Albert S, Bax NM, Astuti GDN, Gilissen C, Pott JR, Verheij JBGM, Blokland EAW, Cremers FPM, van den Born LI, Hoyng CB. Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles. Invest Ophthalmol Vis Sci. 2019 10 01; 60(13):4249-4256. PMID: 31618761.
    Citations: 11     Fields:    Translation:Humans
  8. Sangermano R, Pernarella S, Straker M, Lepanto MS, Rosa L, Cutone A, Valenti P, Ottolenghi L. The treatment of black stain associated with of iron metabolism disorders with lactoferrin: a litterature search and two case studies. Clin Ter. 2019 Sep-Oct; 170(5):e373-e381. PMID: 31612196.
    Citations: 3     Fields:    Translation:Humans
  9. Bauwens M, Garanto A, Sangermano R, Naessens S, Weisschuh N, De Zaeytijd J, Khan M, Sadler F, Balikova I, Van Cauwenbergh C, Rosseel T, Bauwens J, De Leeneer K, De Jaegere S, Van Laethem T, De Vries M, Carss K, Arno G, Fakin A, Webster AR, de Ravel de l'Argentière TJL, Sznajer Y, Vuylsteke M, Kohl S, Wissinger B, Cherry T, Collin RWJ, Cremers FPM, Leroy BP, De Baere E. ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants. Genet Med. 2019 08; 21(8):1761-1771. PMID: 30670881; PMCID: PMC6752479.
    Citations: 41     Fields:    Translation:HumansCells
  10. Sangermano R, Garanto A, Khan M, Runhart EH, Bauwens M, Bax NM, van den Born LI, Khan MI, Cornelis SS, Verheij JBGM, Pott JR, Thiadens AAHJ, Klaver CCW, Puech B, Meunier I, Naessens S, Arno G, Fakin A, Carss KJ, Raymond FL, Webster AR, Dhaenens CM, Stöhr H, Grassmann F, Weber BHF, Hoyng CB, De Baere E, Albert S, Collin RWJ, Cremers FPM. Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides. Genet Med. 2019 08; 21(8):1751-1760. PMID: 30643219; PMCID: PMC6752325.
    Citations: 61     Fields:    Translation:HumansCells
  11. Runhart EH, Sangermano R, Cornelis SS, Verheij JBGM, Plomp AS, Boon CJF, Lugtenberg D, Roosing S, Bax NM, Blokland EAW, Jacobs-Camps MHM, van der Velde-Visser SD, Pott JR, Rohrschneider K, Thiadens AAHJ, Klaver CCW, van den Born LI, Hoyng CB, Cremers FPM. The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants. Invest Ophthalmol Vis Sci. 2018 07 02; 59(8):3220-3231. PMID: 29971439.
    Citations: 27     Fields:    Translation:Humans
  12. Albert S, Garanto A, Sangermano R, Khan M, Bax NM, Hoyng CB, Zernant J, Lee W, Allikmets R, Collin RWJ, Cremers FPM. Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. Am J Hum Genet. 2018 04 05; 102(4):517-527. PMID: 29526278.
    Citations: 41     Fields:    Translation:HumansCells
  13. Sangermano R, Khan M, Cornelis SS, Richelle V, Albert S, Garanto A, Elmelik D, Qamar R, Lugtenberg D, van den Born LI, Collin RWJ, Cremers FPM. ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. Genome Res. 2018 01; 28(1):100-110. PMID: 29162642; PMCID: PMC5749174.
    Citations: 57     Fields:    Translation:HumansCells
  14. Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N. MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy. Hum Mol Genet. 2017 01 01; 26(1):33-43. PMID: 28013292.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  15. Sangermano R, Bax NM, Bauwens M, van den Born LI, De Baere E, Garanto A, Collin RW, Goercharn-Ramlal AS, den Engelsman-van Dijk AH, Rohrschneider K, Hoyng CB, Cremers FP, Albert S. Photoreceptor Progenitor mRNA Analysis Reveals Exon Skipping Resulting from the ABCA4 c.5461-10T?C Mutation in Stargardt Disease. Ophthalmology. 2016 06; 123(6):1375-85. PMID: 26976702.
    Citations: 44     Fields:    Translation:HumansCells
  16. Bax NM, Sangermano R, Roosing S, Thiadens AA, Hoefsloot LH, van den Born LI, Phan M, Klevering BJ, Westeneng-van Haaften C, Braun TA, Zonneveld-Vrieling MN, de Wijs I, Mutlu M, Stone EM, den Hollander AI, Klaver CC, Hoyng CB, Cremers FP. Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant. Hum Mutat. 2015 Jan; 36(1):43-7. PMID: 25363634.
    Citations: 33     Fields:    Translation:Humans
  17. Roosing S, van den Born LI, Sangermano R, Banfi S, Koenekoop RK, Zonneveld-Vrieling MN, Klaver CC, van Lith-Verhoeven JJ, Cremers FP, den Hollander AI, Hoyng CB. Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy. Ophthalmology. 2015 Jan; 122(1):170-9. PMID: 25227500.
    Citations: 28     Fields:    Translation:Humans
  18. Strisciuglio C, Corleto VD, Brunetti-Pierri N, Piccolo P, Sangermano R, Rindi G, Martini M, D'Armiento FP, Staiano A, Miele E. Autosomal dominant Ménétrier-like disease. J Pediatr Gastroenterol Nutr. 2012 Dec; 55(6):717-20. PMID: 22711003.
    Citations: 2     Fields:    Translation:Humans
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.