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Year Citation  Score
2016 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, ... ... Spritz RA, et al. Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants. Nature Genetics. PMID 27723757 DOI: 10.1038/ng.3680  0.48
2016 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, ... ... Spritz RA, et al. Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape. Plos Genetics. 12: e1006174. PMID 27560698 DOI: 10.1371/journal.pgen.1006174  0.48
2016 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. Proceedings of the National Academy of Sciences of the United States of America. PMID 26787886 DOI: 10.1073/pnas.1525001113  0.48
2015 Jin Y, Hayashi M, Fain PR, Suzuki T, Fukai K, Oiso N, Tanemura A, Holcomb CL, Rastrou M, Erlich HA, Spritz RA. Major association of vitiligo with HLA-A*02:01 in Japanese. Pigment Cell & Melanoma Research. 28: 360-2. PMID 25645285 DOI: 10.1111/pcmr.12356  0.48
2015 Green RM, Feng W, Phang T, Fish JL, Li H, Spritz RA, Marcucio RS, Hooper J, Jamniczky H, Hallgrímsson B, Williams T. Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Disease Models & Mechanisms. 8: 31-43. PMID 25381013 DOI: 10.1242/dmm.017616  0.48
2014 Hallgrimsson B, Mio W, Marcucio RS, Spritz R. Let's face it--complex traits are just not that simple. Plos Genetics. 10: e1004724. PMID 25375250 DOI: 10.1371/journal.pgen.1004724  0.48
2014 Manyama M, Larson JR, Liberton DK, Rolian C, Smith FJ, Kimwaga E, Gilyoma J, Lukowiak KD, Spritz RA, Hallgrimsson B. Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania. Bmc Oral Health. 14: 93. PMID 25070002 DOI: 10.1186/1472-6831-14-93  0.48
2014 Chang D, Gao F, Slavney A, Ma L, Waldman YY, Sams AJ, Billing-Ross P, Madar A, Spritz R, Keinan A. Accounting for eXentricities: Analysis of the X Chromosome in GWAS reveals X-linked genes implicated in autoimmune diseases Plos One. 9. DOI: 10.1371/journal.pone.0113684  0.48
2013 Lazova R, Laberge GS, Duvall E, Spoelstra N, Klump V, Sznol M, Cooper D, Spritz RA, Chang JT, Pawelek JM. A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer. Plos One. 8: e66731. PMID 23840523 DOI: 10.1371/journal.pone.0066731  0.48
2013 Spritz RA. Modern vitiligo genetics sheds new light on an ancient disease Journal of Dermatology. 40: 310-318. PMID 23668538 DOI: 10.1111/1346-8138.12147  0.48
2013 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-1β processing via the NLRP1 inflammasome Proceedings of the National Academy of Sciences of the United States of America. 110: 2952-2956. PMID 23382179 DOI: 10.1073/pnas.1222808110  0.48
2013 Biggins SW, Trotter J, Gralla J, Burton JR, Bambha KM, Dodge J, Brocato M, Cheng L, McQueen M, Forman L, Chang M, Kam I, Everson G, Spritz RA, Klintmalm G, et al. Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. Journal of Hepatology. 58: 969-76. PMID 23333445 DOI: 10.1016/j.jhep.2012.12.027  0.48
2013 Ferrara TM, Jin Y, Gowan K, Fain PR, Spritz RA. Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B) Journal of Investigative Dermatology. 133: 1677-1679. PMID 23321921 DOI: 10.1038/jid.2013.5  0.48
2013 Birlea SA, Ahmad FJ, Uddin RM, Ahmad S, Pal SS, Begum R, Laddha NC, Dwivedi M, Shoab Mansuri M, Jin Y, Gowan K, Riccardi SL, Holland PJ, Ben S, Fain PR, ... Spritz RA, et al. Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. The Journal of Investigative Dermatology. 133: 1369-72. PMID 23303446 DOI: 10.1038/jid.2012.501  0.48
2013 Lazova R, LaBerge GS, Duvall E, Spoelstra N, Klump V, Sznol M, Cooper D, Spritz RA, Chang JT, Pawelek JM. A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer Plos One. 8. DOI: 10.1371/journal.pone.0066731  0.48
2012 Luo Y, Ellis LZ, Dallaglio K, Takeda M, Robinson WA, Robinson SE, Liu W, Lewis KD, McCarter MD, Gonzalez R, Norris DA, Roop DR, Spritz RA, Ahn NG, Fujita M. Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance. The Journal of Investigative Dermatology. 132: 2440-50. PMID 22622430 DOI: 10.1038/jid.2012.161  0.48
2012 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, ... ... Spritz RA, et al. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nature Genetics. 44: 676-80. PMID 22561518 DOI: 10.1038/ng.2272  0.48
2012 Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I, Lan CCE, Goh BK, Anbar T, Silva de Castro C, Lee AY, Parsad D, Van Geel N, Le Poole IC, Oiso N, Benzekri L, ... Spritz R, et al. Revised classification/nomenclature of vitiligo and related issues: The Vitiligo Global Issues Consensus Conference Pigment Cell and Melanoma Research. 25: E1-E13. PMID 22417114 DOI: 10.1111/j.1755-148X.2012.00997.x  0.48
2012 Jin Y, Ferrara T, Gowan K, Holcomb C, Rastrou M, Erlich HA, Fain PR, Spritz RA. Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation Journal of Investigative Dermatology. 132: 1730-1733. PMID 22402439 DOI: 10.1038/jid.2012.37  0.48
2012 Panagiotou OA, Ioannidis JPA, Hirschhorn JN, Abecasis GR, Frayling TM, McCarthy MI, Lindgren CM, Beaty TH, Eriksson N, Polychronakos C, Kathirensan S, Plenge RM, Spritz R, Payami H, Martin ER, et al. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations International Journal of Epidemiology. 41: 273-286. PMID 22253303 DOI: 10.1093/ije/dyr178  0.48
2012 Spritz RA. Six decades of vitiligo genetics: Genome-wide studies provide insights into autoimmune pathogenesis Journal of Investigative Dermatology. 132: 268-273. PMID 21993561 DOI: 10.1038/jid.2011.321  0.48
2011 Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatology Online Journal. 17: 13. PMID 22136869  0.48
2011 Spritz RA. The genetics of vitiligo. The Journal of Investigative Dermatology. 131: E18-20. PMID 22094401  0.48
2011 Weatherley-White RC, Ben S, Jin Y, Riccardi S, Arnold TD, Spritz RA. Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African cohort American Journal of Medical Genetics, Part A. 155: 2422-2425. PMID 22043487 DOI: 10.1002/ajmg.a.34191  0.48
2011 Spritz RA. Recent progress in the genetics of generalized vitiligo Journal of Genetics and Genomics. 38: 271-278. PMID 21777851 DOI: 10.1016/j.jgg.2011.05.005  0.48
2011 Hochheiser H, Aronow BJ, Artinger K, Beaty TH, Brinkley JF, Chai Y, Clouthier D, Cunningham ML, Dixon M, Donahue LR, Fraser SE, Hallgrimsson B, Iwata J, Klein O, Marazita ML, ... ... Spritz R, et al. The FaceBase Consortium: a comprehensive program to facilitate craniofacial research. Developmental Biology. 355: 175-82. PMID 21458441 DOI: 10.1016/j.ydbio.2011.02.033  0.48
2011 Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, ... ... Spritz RA, et al. Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. The Journal of Investigative Dermatology. 131: 1308-12. PMID 21326295 DOI: 10.1038/jid.2011.12  0.48
2011 Birlea SA, Jin Y, Bennett DC, Herbstman DM, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, Taïeb A, Jouary T, Ezzedine K, van Geel N, ... ... Spritz RA, et al. Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. The Journal of Investigative Dermatology. 131: 371-81. PMID 21085187 DOI: 10.1038/jid.2010.337  0.48
2011 Spritz R. Misdiagnosis of "neurofibromatosis" in patients with piebaldism Dermatology Online Journal. 17.  0.48
2010 Spritz RA. Shared genetic relationships underlying generalized vitiligo and autoimmune thyroid disease. Thyroid : Official Journal of the American Thyroid Association. 20: 745-754. PMID 20578892  0.48
2010 Jin Y, Birlea SA, Fain PR, Mailloux CM, Riccardi SL, Gowan K, Holland PJ, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M, Leone G, ... ... Spritz RA, et al. Common variants in FOXP1 are associated with generalized vitiligo. Nature Genetics. 42: 576-8. PMID 20526340 DOI: 10.1038/ng.602  0.48
2010 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, ... ... Spritz RA, et al. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. The New England Journal of Medicine. 362: 1686-97. PMID 20410501 DOI: 10.1056/NEJMoa0908547  0.48
2010 Birlea SA, Gowan K, Fain PR, Spritz RA. Genome-wide association study of generalized vitiligo in an isolated european founder population identifies SMOC2, in close proximity to IDDM8 Journal of Investigative Dermatology. 130: 798-803. PMID 19890347 DOI: 10.1038/jid.2009.347  0.48
2010 Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1) Journal of Investigative Dermatology. 130: 774-783. PMID 19727120 DOI: 10.1038/jid.2009.273  0.48
2010 Spritz RA. The genetics of generalized vitiligo: Autoimmune pathways and an inverse relationship with malignant melanoma Genome Medicine. 2. DOI: 10.1186/gm199  0.48
2010 Spritz R. Genetics Vitiligo. 155-163. DOI: 10.1007/978-3-540-69361-1_22  0.48
2009 Feng W, Leach SM, Tipney H, Phang T, Geraci M, Spritz RA, Hunter LE, Williams T. Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences Plos One. 4. PMID 20016822 DOI: 10.1371/journal.pone.0008066  0.48
2009 Sözen MA, Hecht JT, Spritz RA. Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genetic Testing and Molecular Biomarkers. 13: 617-621. PMID 19715471  0.48
2009 Sözen MA, Tolarova MM, Spritz RA. The common MTHFR C677T and A1298C variants are not associated with the risk of non-syndromic cleft lip/palate in northern Venezuela Journal of Genetics and Genomics. 36: 283-288. PMID 19447376 DOI: 10.1016/S1673-8527(08)60116-2  0.48
2009 Leach SM, Tipney H, Feng W, Baumgartner WA, Kasliwal P, Schuyler RP, Williams T, Spritz RA, Hunter L. Biomedical discovery acceleration, with applications to craniofacial development Plos Computational Biology. 5. PMID 19325874 DOI: 10.1371/journal.pcbi.1000215  0.48
2009 Boissy RE, Spritz RA. Frontiers and controversies in the pathobiology of vitiligo: Separating the wheat from the chaff Experimental Dermatology. 18: 583-585. PMID 19320739 DOI: 10.1111/j.1600-0625.2008.00826.x  0.48
2009 Huson DH, Richter DC, Mitra S, Auch AF, Schuster SC. Methods for comparative metagenomics. Bmc Bioinformatics. 10: S12. PMID 19208111 DOI: 10.1186/1471-2105-10-S1-S12  0.48
2009 Birlea SA, Laberge GS, Procopciuc LM, Fain PR, Spritz RA. CTLA4 and generalized vitiligo: Two genetic association studies and a meta-analysis of published data Pigment Cell and Melanoma Research. 22: 230-234. PMID 19175525 DOI: 10.1111/j.1755-148X.2009.00543.x  0.48
2009 Sözen MA, Hecht JT, Spritz RA. Mutation and association analysis of the PVR and PVRL2 genes in patients with non-syndromic cleft lip and palate Genetics and Molecular Biology. 32: 466-469.  0.48
2008 Hutton SM, Spritz RA. Comprehensive analysis of oculocutaneous albinism among non-hispanic caucasians shows that OCA1 Is the most prevalent OCA type Journal of Investigative Dermatology. 128: 2442-2450. PMID 18463683 DOI: 10.1038/jid.2008.109  0.48
2008 Laberge GS, Birlea SA, Fain PR, Spritz RA. The PTPN22-1858C>T (R620W) functional polymorphism is associated with generalized vitiligo in the Romanian population Pigment Cell and Melanoma Research. 21: 206-208. PMID 18426414 DOI: 10.1111/j.1755-148X.2008.00443.x  0.48
2008 Birlea SA, Fain PR, Spritz RA. A romanian population isolate with high frequency of vitiligo and associated autoimmune diseases Archives of Dermatology. 144: 310-316. PMID 18347286  0.48
2008 Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in caucasian patients Investigative Ophthalmology and Visual Science. 49: 868-872. PMID 18326704 DOI: 10.1167/iovs.07-0791  0.48
2008 LaBerge GS, Bennett DC, Fain PR, Spritz RA. PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not Journal of Investigative Dermatology. 128: 1757-1762. PMID 18200060 DOI: 10.1038/sj.jid.5701233  0.48
2008 Sözen MA, Tolarova MM, Spritz RA. Study of the CLPTM1 gene in south American non-syndromic cleft lip patients with or without palate European Journal of General Medicine. 5: 134-139.  0.48
2008 Sözen MA, Hecht JT, Spritz RA. Lack of mutations in the PVRL3 gene in North American caucasians with non-syndromic cleft lip/palate Genetics and Molecular Biology. 31: 649-650.  0.48
2007 Jin Y, Bennett DC, Amadi-Myers A, Holland P, Riccardi SL, Gowan K, Fain PR, Spritz RA. Vitiligo-associated multiple autoimmune disease is not associated with genetic variation in AIRE [1] Pigment Cell Research. 20: 402-404. PMID 17850514 DOI: 10.1111/j.1600-0749.2007.00398.x  0.48
2007 Jin Y, Birlea SA, Fain PR, Spritz RA. Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population Journal of Investigative Dermatology. 127: 2558-2562. PMID 17637824 DOI: 10.1038/sj.jid.5700953  0.48
2007 Spritz RA. The genetics of generalized vitiligo and associated autoimmune diseases Pigment Cell Research. 20: 271-278. PMID 17630960 DOI: 10.1111/j.1600-0749.2007.00384.x  0.48
2007 Spritz RA, Arnold TD, Buonocore S, Carter D, Fingerlin T, Odero WW, Wambani JO, Tenge RK, Weatherley-White RC. Distribution of orofacial clefts and frequent occurrence of an unusual cleft variant in the Rift Valley of Kenya Cleft Palate-Craniofacial Journal. 44: 374-377. PMID 17608554 DOI: 10.1597/06-136.1  0.48
2007 Jin Y, Mailloux CM, Gowan K, Riccardi SL, Laberge G, Bennett DC, Fain PR, Spritz RA. NALP1 in vitiligo-associated multiple autoimmune disease New England Journal of Medicine. 356: 1216-1225. PMID 17377159 DOI: 10.1056/NEJMoa061592  0.48
2007 Chintala S, Tan J, Gautam R, Rusiniak ME, Guo X, Li W, Gahl WA, Huizing M, Spritz RA, Hutton S, Novak EK, Swank RT. The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules Blood. 109: 1533-1540. PMID 17062724 DOI: 10.1182/blood-2006-08-040196  0.48
2007 Spritz RA. Melanoblast Development and Associated Disorders The Pigmentary System: Physiology and Pathophysiology: Second Edition. 140-154. DOI: 10.1002/9780470987100.ch6  0.48
2007 Spritz RA. Genetic Hypomelanoses: Disorders Characterized By Congenital White Spotting - Piebaldism, Waardenburg Syndrome, and Related Genetic Disorders of Melanocyte Development - Clinical Aspects The Pigmentary System: Physiology and Pathophysiology: Second Edition. 539-550. DOI: 10.1002/9780470987100.ch29  0.48
2006 Spritz RA. "Out, damned spot!" Journal of Investigative Dermatology. 126: 949-951. PMID 16619012 DOI: 10.1038/sj.jid.5700220  0.48
2006 Fain PR, Babu SR, Bennett DC, Spritz RA. HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and arly disease onset Pigment Cell Research. 19: 51-57. PMID 16420246 DOI: 10.1111/j.1600-0749.2005.00279.x  0.48
2006 Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D, Molina NL, Ramírez S, Pagán-Mercado G, Ortíz I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. The Journal of Investigative Dermatology. 126: 85-90. PMID 16417222 DOI: 10.1038/sj.jid.5700034  0.48
2005 Ito S, Suzuki T, Inagaki K, Suzuki N, Takamori K, Yamada T, Nakazawa M, Hatano M, Takiwaki H, Kakuta Y, Spritz RA, Tomita Y. High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein Journal of Investigative Dermatology. 125: 715-720. PMID 16185271 DOI: 10.1111/j.0022-202X.2005.23884.x  0.48
2005 Alkhateeb A, Fain PR, Spritz RA. Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo [4] Journal of Investigative Dermatology. 125: 388-391. PMID 16098053 DOI: 10.1111/j.0022-202X.2005.23822.x  0.48
2005 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 Proceedings of the National Academy of Sciences of the United States of America. 102: 10964-10969. PMID 16037214 DOI: 10.1073/pnas.0502856102  0.48
2005 Laberge G, Mailloux CM, Gowan K, Holland P, Bennett DC, Fain PR, Spritz RA. Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo Pigment Cell Research. 18: 300-305. PMID 16029422 DOI: 10.1111/j.1600-0749.2005.00242.x  0.48
2004 Oiso N, Riddle SR, Serikawa T, Kuramoto T, Spritz RA. The rat Ruby (R) locus is Rab38: Identical mutations in Fawn-hooded and Tester-Moriyama rats derived from an ancestral Long Evans rat sub-strain Mammalian Genome. 15: 307-314. PMID 15112108 DOI: 10.1007/s00335-004-2337-9  0.48
2004 Akahoshi K, Spritz RA, Fukai K, Mitsui N, Matsushima K, Ohashi H. Mosaic Supernumerary inv dup(15) Chromosome with Four Copies of the P Gene in a Boy with Pigmentary Dysplasia American Journal of Medical Genetics. 126: 290-292. PMID 15054844  0.48
2004 Spritz RA, Itin PH, Gutmann DH. Piebaldism and Neurofibromatosis Type 1: Horses of Very Different Colors Journal of Investigative Dermatology. 122: xxxiv-xxxv. PMID 15009761 DOI: 10.1046/j.0022-202X.2004.22235.x  0.48
2004 Spritz RA, Gowan K, Bennett DC, Fain PR. Novel Vitiligo Susceptibility Loci on Chromosomes 7 (AIS2) and 8 (AIS3), Confirmation of SLEV1 on Chromosome 17, and Their Roles in an Autoimmune Diathesis American Journal of Human Genetics. 74: 188-191. PMID 14691733 DOI: 10.1086/381134  0.48
2003 Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, Korf BR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2) gene results in human piebaldism American Journal of Medical Genetics. 122: 125-132. PMID 12955764  0.48
2003 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, et al. Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nature Genetics. 35: 84-9. PMID 12923531 DOI: 10.1038/ng1229  0.48
2003 Spritz RA, Chiang PW, Oiso N, Alkhateeb A. Human and mouse disorders of pigmentation Current Opinion in Genetics and Development. 13: 284-289. PMID 12787791 DOI: 10.1016/S0959-437X(03)00059-5  0.48
2003 Alkhateeb A, Fain PR, Thody A, Bennett DC, Spritz RA. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families Pigment Cell Research. 16: 208-214. PMID 12753387 DOI: 10.1034/j.1600-0749.2003.00032.x  0.48
2003 Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, Bennett DC, Spritz RA. A genomewide screen for generalized vitiligo: Confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci American Journal of Human Genetics. 72: 1560-1564. PMID 12707860 DOI: 10.1086/375451  0.48
2003 Chiang PW, Oiso N, Gautam R, Suzuki T, Swank RT, Spritz RA. The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles Journal of Biological Chemistry. 278: 20332-20337. PMID 12663659 DOI: 10.1074/jbc.M300090200  0.48
2003 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, ... ... Spritz RA, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nature Genetics. 33: 145-53. PMID 12548288 DOI: 10.1038/ng1087  0.48
2003 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 Proceedings of the National Academy of Sciences of the United States of America. 100: 1146-1150. PMID 12538872 DOI: 10.1073/pnas.0237292100  0.48
2002 Alkhateeb A, Stetler GL, Old W, Talbert J, Uhlhorn C, Taylor M, Fox A, Miller C, Dills DG, Ridgway EC, Bennett DC, Fain PR, Spritz RA. Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2 Human Molecular Genetics. 11: 661-667. PMID 11912181  0.48
2002 Karim MA, Suzuki K, Fukai K, Oh J, Nagle DL, Moore KJ, Barbosa E, Falik-Borenstein T, Filipovich A, Ishida Y, Kivrikko S, Klein C, Kreuz F, Levin A, Miyajima H, ... ... Spritz RA, et al. Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. American Journal of Medical Genetics. 108: 16-22. PMID 11857544 DOI: 10.1002/ajmg.10184  0.48
2002 Suzuki T, Li W, Zhang Q, Karim A, Novak EK, Sviderskaya EV, Hill SP, Bennett DC, Levin AV, Nieuwenhuiss 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 Nature Genetics. 30: 321-324. PMID 11836498 DOI: 10.1038/ng835  0.48
2001 Akahoshi K, Fukai K, Kato A, Kimiya S, Kubota T, Spritz RA. Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation American Journal of Medical Genetics. 104: 299-302. PMID 11754064 DOI: 10.1002/ajmg.10095  0.48
2001 Spritz RA. The genetics and epigenetics of orofacial clefts Current Opinion in Pediatrics. 13: 556-560. PMID 11753106 DOI: 10.1097/00008480-200112000-00011  0.48
2001 Suzuki T, Li W, Zhang Q, Novak EK, Sviderskaya EV, Wilson A, Bennett DC, Roe BA, Swank RT, Spritz RA. The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human hermansky-pudlak syndrome-3 gene Genomics. 78: 30-37. PMID 11707070 DOI: 10.1006/geno.2001.6644  0.48
2001 Sözen MA, Suzuki K, Tolarova MM, Bustos T, Fernández Iglesias JE, Spritz RA. Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela Nature Genetics. 29: 141-142. PMID 11559849 DOI: 10.1038/ng740  0.48
2001 Oh J, LeCras TD, Spritz RA. Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus Mammalian Genome. 12: 466-468. PMID 11353395 DOI: 10.1007/s003350020046  0.48
2001 Toyofuku K, Wada I, Spritz RA, Hearing VJ. The molecular basis of oculocutaneous albinism type 1 (OCA1): Sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation Biochemical Journal. 355: 259-269. PMID 11284711 DOI: 10.1042/0264-6021:3550259  0.48
2000 Suzuki K, Hu D, Bustos T, Zlotogora J, Richieri-Costa A, Helms JA, Spritz RA. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia Nature Genetics. 25: 427-430. PMID 10932188 DOI: 10.1038/78119  0.48
2000 Spritz RA. Hermansky-Pudlak syndrome and pale ear: Melanosome-making for the millennium Pigment Cell Research. 13: 15-20. PMID 10761991 DOI: 10.1034/j.1600-0749.2000.130104.x  0.48
2000 Oh J, Liu ZX, Feng GH, Raposo G, Spritz RA. The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes Human Molecular Genetics. 9: 375-385. PMID 10655547  0.48
1999 Spritz RA. Multi-organellar disorders of pigmentation: Intracellular traffic jams in mammals, flies and yeast Trends in Genetics. 15: 337-340. PMID 10461199 DOI: 10.1016/S0168-9525(99)01785-0  0.48
1999 Spritz RA, Oh J. HPS gene mutations in Hermansky-Pudlak syndrome. American Journal of Human Genetics. 64: 658. PMID 9973306  0.48
1999 Spritz RA. Multi-organellar disorders of pigmentation: Tied up in traffic Clinical Genetics. 57: 29-37. DOI: 10.1034/j.1399-0004.2000.57si03.x  0.48
1998 Spritz RA, Oh J. Three new mutations in a gene causing Hermansky-Pudlak syndrome. Molecular Genetics and Metabolism. 65: 254. PMID 9851892  0.48
1998 Suzuki K, Bustos T, Spritz RA. Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23 American Journal of Human Genetics. 63: 1102-1107. PMID 9758630 DOI: 10.1086/302072  0.48
1998 Spritz RA. Genetic defects in Chediak-Higashi syndrome and the beige mouse Journal of Clinical Immunology. 18: 97-105. PMID 9533653 DOI: 10.1023/A:1023247215374  0.48
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