Richard Spritz, MD
Professor, Pediatrics-Human Medical Genetics Program

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Languages: English
Department: Pediatrics-Human Medical Genetics Program

Publications

  • Ben S, Jin Y, Santorico SA, Spritz RA. Genome-Wide Association of PVT1 with Vitiligo. J Invest Dermatol. 2018 Aug;138(8):1884-1886. PubMed PMID: 29505758
  • Cole JB, Manyama MF, Nikitovic D, Gonzalez PN, Liberton DK, Wilson WM, Rolian C, Larson JR, Kimwaga E, Mathayo J, Roseman CC, Santorico SA, Lukowiak K, Spritz RA, Hallgrimsson B. Facial shape manifestations of growth faltering in Tanzanian children. J Anat. 2017 Nov 28. [Epub ahead of print] PubMed PMID: 29193055
  • Larson JR, Manyama MF, Cole JB, Gonzalez PN, Percival CJ, Liberton DK, Ferrara TM, Riccardi SL, Kimwaga EA, Mathayo J, Spitzmacher JA, Rolian C, Jamniczky HA, Weinberg SM, Roseman CC, Klein O, Lukowiak K, Spritz RA, Hallgrimsson B. Body size and allometric variation in facial shape in children. Am J Phys Anthropol. 2017 Nov 27. [Epub ahead of print] PubMed PMID: 29178597
  • Box NF, Larue L, Manga P, Montoliu L, Spritz RA, Filipp FV. The triennial International Pigment Cell Conference (IPCC). J Transl Med. 2018 Oct 3;16(1):252. PubMed PMID: 30285864
  • Filipp FV, Birlea S, Bosenberg MW, Brash D, Cassidy PB, Chen S, D'Orazio JA, Fujita M, Goh BK, Herlyn M, Indra AK, Larue L, Leachman SA, Le Poole C, Liu-Smith F, Manga P, Montoliu L, Norris DA, Shellman Y, Smalley KSM, Spritz RA, Sturm RA, Swetter SM, Terzian T, Wakamatsu K, Weber JS, Box NF. Frontiers in pigment cell and melanoma research. Pigment Cell Melanoma Res. 2018 Nov;31(6):728-735. PubMed PMID: 30281213
  • Cole JB, Manyama MF, Nikitovic D, Gonzalez PN, Liberton DK, Wilson WM, Rolian C, Larson JR, Kimwaga E, Mathayo J, Roseman CC, Santorico SA, Lukowiak K, Spritz RA, Hallgrimsson B. Facial shape manifestations of growth faltering in Tanzanian children. J Anat. 2017 Nov 28. [Epub ahead of print] PubMed PMID: 29193055
  • Larson JR, Manyama MF, Cole JB, Gonzalez PN, Percival CJ, Liberton DK, Ferrara TM, Riccardi SL, Kimwaga EA, Mathayo J, Spitzmacher JA, Rolian C, Jamniczky HA, Weinberg SM, Roseman CC, Klein O, Lukowiak K, Spritz RA, Hallgrimsson B. Body size and allometric variation in facial shape in children. Am J Phys Anthropol. 2017 Nov 27. [Epub ahead of print] PubMed PMID: 29178597
  • Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol. 2017 Dec;56(12):1406-1413. PubMed PMID: 29130490
  • Hooper JE, Feng W, Li H, Leach SM, Phang T, Siska C, Jones KL, Spritz RA, Hunter LE, Williams T. Systems biology of facial development: contributions of ectoderm and mesenchyme. Dev Biol. 2017 Jun 1;426(1):97-114. PubMed PMID: 28363736
  • Spritz RA, Andersen GH. Genetics of Vitiligo. Dermatol Clin. 2017 Apr;35(2):245-255. PubMed PMID: 28317533
  • Zhai Z, Liu W, Kaur M, Luo Y, Domenico J, Samson JM, Shellman YG, Norris DA, Dinarello CA, Spritz RA, Fujita M. NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing apoptosis in metastatic melanoma. Oncogene. 2017 Jul 6;36(27):3820-3830. PubMed PMID: 28263976
  • Li M, Cole JB, Manyama M, Larson JR, Liberton DK, Riccardi SL, Ferrara TM, Santorico SA, Bannister JJ, Forkert ND, Spritz RA, Mio W, Hallgrimsson B. Rapid automated landmarking for morphometric analysis of three-dimensional facial scans. J Anat. 2017 Apr;230(4):607-618. PubMed PMID: 28078731
  • Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Human Facial Shape and Size Heritability and Genetic Correlations. Genetics. 2016 Dec 14. [Epub ahead of print] PubMed PMID: 27974501
  • Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2016 Dec 13. [Epub ahead of print] PubMed PMID: 27965375
  • Jin Y, Andersen GH, Santorico SA, Spritz RA. Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo. J Invest Dermatol. 2016 Oct 5. [Epub ahead of print] PubMed PMID: 27720759
  • Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA. Homozygous SLCO2A1 Translation Initiation Codon Mutation in a Pakistani Family with Recessive Isolated Congenital Nail Clubbing (ICNC). Br J Dermatol. 2016 Sep 28. [Epub ahead of print] PubMed PMID: 27681482
  • 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 Jan 19. [Epub ahead of print] 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 Jan 19. [Epub ahead of print] PubMed PMID: 26787886
  • Percival CJ, Liberton DK, Pardo-Manuel de Villena F, Spritz R, Marcucio R, Hallgrímsson B. Genetics of murine craniofacial morphology: diallel analysis of the eight founders of the Collaborative Cross. J Anat. 2016 Jan;228(1):96-112. PubMed PMID: 26426826
  • Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrimsson B, Spritz RA. Human Facial Shape and Size Heritability and Genetic Correlations. Genetics. 2016 Dec 14. [Epub ahead of print] PubMed PMID: 27974501
  • Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA. Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix. J Med Genet. 2016 Dec 13. [Epub ahead of print] PubMed PMID: 27965375
  • 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
  • Jin Y, Andersen GH, Santorico SA, Spritz RA. Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo. J Invest Dermatol. 2016 Oct 5. [Epub ahead of print] PubMed PMID: 27720759
  • Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA. Homozygous SLCO2A1 Translation Initiation Codon Mutation in a Pakistani Family with Recessive Isolated Congenital Nail Clubbing (ICNC). Br J Dermatol. 2016 Sep 28. [Epub ahead of print] PubMed PMID: 27681482
  • 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
  • Pavlicev M, Mitteroecker P, Gonzalez PM, Rolian C, Jamniczky H, Villena FP, Marcucio R, Spritz R, Hallgrimsson B. Development Shapes a Consistent Inbreeding Effect in Mouse Crania of Different Line Crosses. J Exp Zool B Mol Dev Evol. 2016 Dec;326(8):474-488. PubMed PMID: 28097826
  • Brinkley JF, Fisher S, Harris MP, Holmes G, Hooper JE, Jabs EW, Jones KL, Kesselman C, Klein OD, Maas RL, Marazita ML, Selleri L, Spritz RA, van Bakel H, Visel A, Williams TJ, Wysocka J, Chai Y. The FaceBase Consortium: a comprehensive resource for craniofacial researchers. Development. 2016 Jul 15;143(14):2677-88. PubMed PMID: 27287806
  • Gonzalez PN, Pavlicev M, Mitteroecker P, Pardo-Manuel de Villena F, Spritz RA, Marcucio RS, Hallgrímsson B. Genetic structure of phenotypic robustness in the collaborative cross mouse diallel panel. J Evol Biol. 2016 Sep;29(9):1737-51. PubMed PMID: 27234063
  • Ben S, Cooper-DeHoff RM, Flaten HK, Evero O, Ferrara TM, Spritz RA, Monte AA. Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method. Hum Genomics. 2016 Apr 23;10:11. PubMed PMID: 27108086
  • 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 Jan 19. [Epub ahead of print] 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 Jan 19. [Epub ahead of print] PubMed PMID: 26787886
  • Percival CJ, Liberton DK, Pardo-Manuel de Villena F, Spritz R, Marcucio R, Hallgrímsson B. Genetics of murine craniofacial morphology: diallel analysis of the eight founders of the Collaborative Cross. J Anat. 2016 Jan;228(1):96-112. PubMed PMID: 26426826
  • Shellman YG, Lambert KA, Brauweiler A, Fain P, Spritz RA, Martini M, Janssen KP, Box NF, Terzian T, Rewers M, Horvath A, Stratakis CA, Robinson WA, Robinson SE, Norris DA, Artinger KB, Pacheco TR. SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. J Invest Dermatol. 2015 Dec;135(12):3192-4. PubMed PMID: 26203640
  • do Rego Borges A, Sá J, Hoshi R, Viena CS, Mariano LC, de Castro Veiga P, Medrado AP, Machado RA, de Aquino SN, Messetti AC, Spritz RA, Coletta RD, Reis SR. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry. Am J Med Genet A. 2015 Oct;167A(10):2344-9. PubMed PMID: 26198054
  • 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 Res. 2015 May;28(3):360-2. PubMed PMID: 25645285
  • 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 facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Dis Model Mech. 2014 Nov 7. [Epub ahead of print] PubMed PMID: 25381013
  • Shellman YG, Lambert KA, Brauweiler A, Fain P, Spritz RA, Martini M, Janssen KP, Box NF, Terzian T, Rewers M, Horvath A, Stratakis CA, Robinson WA, Robinson SE, Norris DA, Artinger KB, Pacheco TR. SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype. J Invest Dermatol. 2015 Dec;135(12):3192-4. PubMed PMID: 26203640
  • do Rego Borges A, Sá J, Hoshi R, Viena CS, Mariano LC, de Castro Veiga P, Medrado AP, Machado RA, de Aquino SN, Messetti AC, Spritz RA, Coletta RD, Reis SR. Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry. Am J Med Genet A. 2015 Oct;167A(10):2344-9. PubMed PMID: 26198054
  • 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 Res. 2015 May;28(3):360-2. PubMed PMID: 25645285
  • 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 facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Dis Model Mech. 2014 Nov 7. [Epub ahead of print] PubMed PMID: 25381013
  • 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. 2014;9(12):e113684. PubMed PMID: 25479423
  • 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 facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage. Dis Model Mech. 2014 Nov 7. [Epub ahead of print] PubMed PMID: 25381013
  • Hallgrimsson B, Mio W, Marcucio RS, Spritz R. Let's face it--complex traits are just not that simple. PLoS Genet. 2014 Nov;10(11):e1004724. PubMed PMID: 25375250
  • Goodwin AF, Larson JR, Jones KB, Liberton DK, Landan M, Wang Z, Boekelheide A, Langham M, Mushegyan V, Oberoi S, Brao R, Wen T, Johnson R, Huttner K, Grange DK, Spritz RA, Hallgrímsson B, Jheon AH, Klein OD. Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia. Mol Genet Genomic Med. 2014 Sep;2(5):422-9. PubMed PMID: 25333067
  • 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. 2014 Jul 29;14:93. PubMed PMID: 25070002
  • 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. 2013;8(6):e66731. PubMed PMID: 23840523
  • Spritz RA. Modern vitiligo genetics sheds new light on an ancient disease. J Dermatol. 2013 May;40(5):310-8. PubMed PMID: 23668538
  • 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
  • Biggins SW, Trotter J, Gralla J, Burton JR Jr, Bambha KM, Dodge J, Brocato M, Cheng L, McQueen M, Forman L, Chang M, Kam I, Everson G, Spritz RA, Klintmalm G, Rosen HR. Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. J Hepatol. 2013 May;58(5):969-76. PubMed PMID: 23333445
  • 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). J Invest Dermatol. 2013 Jun;133(6):1677-9. PubMed PMID: 23321921
  • 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. Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent. J Invest Dermatol. 2013 May;133(5):1369-72. PubMed PMID: 23303446
  • 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. J Invest Dermatol. 2012 Oct;132(10):2440-50. PubMed PMID: 22622430
  • 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
  • Ezzedine K, Lim HW, Suzuki T, Katayama I, Hamzavi I, Lan CC, Goh BK, Anbar T, Silva de Castro C, Lee AY, Parsad D, van Geel N, Le Poole IC, Oiso N, Benzekri L, Spritz R, Gauthier Y, Hann SK, Picardo M, Taieb A, Vitiligo Global Issue Consensus Conference Panelists. Revised classification/nomenclature of vitiligo and related issues: the Vitiligo Global Issues Consensus Conference. Pigment Cell Melanoma Res. 2012 May;25(3):E1-13. PubMed PMID: 22417114
  • 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. J Invest Dermatol. 2012 Jun;132(6):1730-3. PubMed PMID: 22402439
  • Spritz RA. Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis. J Invest Dermatol. 2012 Feb;132(2):268-73. PubMed PMID: 21993561
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Practice Locations

Children's Hospital Colorado
13123 East 16th Ave
Aurora, CO 80045
720-777-1234

Hospital Affiliation
  • Children's Hospital Colorado

Specialty Information

Conditions & Treatments
  • Genetic Conditions and Testing

General Information

Languages: English
Department: Pediatrics-Human Medical Genetics Program
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