Professor Emeritus, Pediatrics-Human Medical Genetics Program
Languages
English
Department
Pediatrics-Human Medical Genetics Program
Professional Titles
Professor and Director
Publications
Jin Y, Birlea SA, Fain PR, Ferrara TM, Ben S, Riccardi SL, Cole JB, Gowan K, Holland PJ, Bennett DC, Luiten RM, Wolkerstorfer A, van der Veen JP, Hartmann A, Eichner S, Schuler G, van Geel N, Lambert J, Kemp EH, Gawkrodger DJ, Weetman AP, Taïeb A, Jouary T, Ezzedine K, Wallace MR, McCormack WT, Picardo M, Leone G, Overbeck A, Silverberg NB, Spritz RA. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet. 2012 May 6;44(6):676-80. PubMed PMID: 22561518
Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA. NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1ß processing via the NLRP1 inflammasome. Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2952-6. PubMed PMID: 23382179
Jin Y, Andersen G, Yorgov D, Ferrara TM, Ben S, Brownson KM, Holland PJ, Birlea SA, Siebert J, Hartmann A, Lienert A, van Geel N, Lambert J, Luiten RM, Wolkerstorfer A, Wietze van der Veen JP, Bennett DC, Taïeb A, Ezzedine K, Kemp EH, Gawkrodger DJ, Weetman AP, Kõks S, Prans E, Kingo K, Karelson M, Wallace MR, McCormack WT, Overbeck A, Moretti S, Colucci R, Picardo M, Silverberg NB, Olsson M, Valle Y, Korobko I, Böhm M, Lim HW, Hamzavi I, Zhou L, Mi QS, Fain PR, Santorico SA, Spritz RA. Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nat Genet. 2016 Nov;48(11):1418-1424. PubMed PMID: 27723757
Cole JB, Manyama M, Kimwaga E, Mathayo J, Larson JR, Liberton DK, Lukowiak K, Ferrara TM, Riccardi SL, Li M, Mio W, Prochazkova M, Williams T, Li H, Jones KL, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape. PLoS Genet. 2016 Aug 25;12(8):e1006174. PubMed PMID: 27560698
Shaffer JR, Orlova E, Lee MK, Leslie EJ, Raffensperger ZD, Heike CL, Cunningham ML, Hecht JT, Kau CH, Nidey NL, Moreno LM, Wehby GL, Murray JC, Laurie CA, Laurie CC, Cole J, Ferrara T, Santorico S, Klein O, Mio W, Feingold E, Hallgrimsson B, Spritz RA, Marazita ML, Weinberg SM. Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. PLoS Genet. 2016 Aug 25;12(8):e1006149. PubMed PMID: 27560520
Cavalli G, Hayashi M, Jin Y, Yorgov D, Santorico SA, Holcomb C, Rastrou M, Erlich H, Tengesdal IW, Dagna L, Neff CP, Palmer BE, Spritz RA, Dinarello CA. MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1363-8. PubMed PMID: 26787888
Hayashi M, Jin Y, Yorgov D, Santorico SA, Hagman J, Ferrara TM, Jones KL, Cavalli G, Dinarello CA, Spritz RA. Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo. Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1357-62. PubMed PMID: 26787886
Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrímsson B, Spritz RA. Human Facial Shape and Size Heritability and Genetic Correlations. Genetics. 2017 Feb;205(2):967-978. PubMed PMID: 27974501
Jin, Y., Roberts, G.H.L., Ferrara, T.M., Ben, S., van Geel, N., Wolkerstorfer, A., Ezzedine, K., Siebert, J., Neff, P., Palmer, B.E., Santorico, S.A., Spritz, R.A. Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression. Nat. Comm., in press
Hallgrímsson B, Aponte JD, Katz DC, Bannister JJ, Riccardi SL, Mahasuwan N, McInnes BL, Ferrara TM, Lipman DM, Neves AB, Spitzmacher JAJ, Larson JR, Bellus GA, Pham AM, Aboujaoude E, Benke TA, Chatfield KC, Davis SM, Elias ER, Enzenauer RW, French BM, Pickler LL, Shieh JTC, Slavotinek A, Harrop AR, Innes AM, McCandless SE, McCourt EA, Meeks NJL, Tartaglia NR, Tsai AC, Wyse JPH, Bernstein JA, Sanchez-Lara PA, Forkert ND, Bernier FP, Spritz RA, Klein OD. Automated syndrome diagnosis by three-dimensional facial imaging. Genet Med. 2020 Oct;22(10):1682-1693. PubMed PMID: 32475986
Spritz RA, Santorico SA. The Genetic Basis of Vitiligo. J Invest Dermatol. 2021 Feb;141(2):265-273. PubMed PMID: 32778407
Roberts GHL, Santorico SA, Spritz RA. Deep genotype imputation captures virtually all heritability of autoimmune vitiligo. Hum Mol Genet. 2020 Mar 27;29(5):859-863. PubMed PMID: 31943001
Roberts GHL, Santorico SA, Spritz RA. The genetic architecture of vitiligo. Pigment Cell Melanoma Res. 2020 Jan;33(1):8-15. PubMed PMID: 31743585
Jin Y, Santorico SA, Spritz RA. Pediatric to Adult Shift in Vitiligo Onset Suggests Altered Environmental Triggering. J Invest Dermatol. 2020 Jan;140(1):241-243.e4. PubMed PMID: 31260671
Roberts GHL, Paul S, Yorgov D, Santorico SA, Spritz RA. Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles. Am J Hum Genet. 2019 Aug 1;105(2):364-372. PubMed PMID: 31327509
Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJ, Hutton SM, Amadi-Myers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med. 2010 May 6;362(18):1686-97. PubMed PMID: 20410501
Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med. 2007 Mar 22;356(12):1216-25. PubMed PMID: 17377159
Chintala S, Li W, Lamoreux ML, Ito S, Wakamatsu K, Sviderskaya EV, Bennett DC, Park YM, Gahl WA, Huizing M, Spritz RA, Ben S, Novak EK, Tan J, Swank RT. Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A. 2005 Aug 2;102(31):10964-9. PubMed PMID: 16037214
Li W, Zhang Q, Oiso N, Novak EK, Gautam R, O'Brien EP, Tinsley CL, Blake DJ, Spritz RA, Copeland NG, Jenkins NA, Amato D, Roe BA, Starcevic M, Dell'Angelica EC, Elliott RW, Mishra V, Kingsmore SF, Paylor RE, Swank RT. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet. 2003 Sep;35(1):84-9. PubMed PMID: 12923531
Suzuki T, Oiso N, Gautam R, Novak EK, Panthier JJ, Suprabha PG, Vida T, Swank RT, Spritz RA. The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A. 2003 Feb 4;100(3):1146-50. PubMed PMID: 12538872
Zhang Q, Zhao B, Li W, Oiso N, Novak EK, Rusiniak ME, Gautam R, Chintala S, O'Brien EP, Zhang Y, Roe BA, Elliott RW, Eicher EM, Liang P, Kratz C, Legius E, Spritz RA, O'Sullivan TN, Copeland NG, Jenkins NA, Swank RT. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003 Feb;33(2):145-53. PubMed PMID: 12548288
Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuis HK, Fong CT, Castellan C, Miterski B, Swank RT, Spritz RA. Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet. 2002 Mar;30(3):321-4. PubMed PMID: 11836498