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Items: 1 to 50 of 217

1.

Deep Genotype Imputation Captures Virtually All Heritability of Autoimmune Vitiligo.

Roberts GHL, Santorico SA, Spritz RA.

Hum Mol Genet. 2020 Jan 15. pii: ddaa005. doi: 10.1093/hmg/ddaa005. [Epub ahead of print]

PMID:
31943001
2.

The genetic architecture of vitiligo.

Roberts GHL, Santorico SA, Spritz RA.

Pigment Cell Melanoma Res. 2020 Jan;33(1):8-15. doi: 10.1111/pcmr.12848. Epub 2019 Dec 4. Review.

PMID:
31743585
3.

Family Clustering of Autoimmune Vitiligo Results Principally from Polygenic Inheritance of Common Risk Alleles.

Roberts GHL, Paul S, Yorgov D, Santorico SA, Spritz RA.

Am J Hum Genet. 2019 Aug 1;105(2):364-372. doi: 10.1016/j.ajhg.2019.06.013. Epub 2019 Jul 18.

4.

Pediatric to Adult Shift in Vitiligo Onset Suggests Altered Environmental Triggering.

Jin Y, Santorico SA, Spritz RA.

J Invest Dermatol. 2020 Jan;140(1):241-243.e4. doi: 10.1016/j.jid.2019.06.131. Epub 2019 Jun 28. No abstract available.

PMID:
31260671
5.

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.

Pouget JG; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Han B, Wu Y, Mignot E, Ollila HM, Barker J, Spain S, Dand N, Trembath R, Martin J, Mayes MD, Bossini-Castillo L, López-Isac E, Jin Y, Santorico SA, Spritz RA, Hakonarson H, Polychronakos C, Raychaudhuri S, Knight J.

Hum Mol Genet. 2019 Oct 15;28(20):3498-3513. doi: 10.1093/hmg/ddz145.

6.

Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression.

Jin Y, Roberts GHL, Ferrara TM, Ben S, van Geel N, Wolkerstorfer A, Ezzedine K, Siebert J, Neff CP, Palmer BE, Santorico SA, Spritz RA.

Nat Commun. 2019 Jan 23;10(1):391. doi: 10.1038/s41467-019-08337-4.

7.

The triennial International Pigment Cell Conference (IPCC).

Box NF, Larue L, Manga P, Montoliu L, Spritz RA, Filipp FV.

J Transl Med. 2018 Oct 3;16(1):252. doi: 10.1186/s12967-018-1609-1.

8.

Frontiers in pigment cell and melanoma research.

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.

Pigment Cell Melanoma Res. 2018 Nov;31(6):728-735. doi: 10.1111/pcmr.12728. Epub 2018 Oct 3.

9.

Genome-Wide Association of PVT1 with Vitiligo.

Ben S, Jin Y, Santorico SA, Spritz RA.

J Invest Dermatol. 2018 Aug;138(8):1884-1886. doi: 10.1016/j.jid.2018.02.025. Epub 2018 Mar 2. No abstract available.

10.

Facial shape manifestations of growth faltering in Tanzanian children.

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.

J Anat. 2018 Feb;232(2):250-262. doi: 10.1111/joa.12748. Epub 2017 Nov 28.

11.

Body size and allometric variation in facial shape in children.

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.

Am J Phys Anthropol. 2018 Feb;165(2):327-342. doi: 10.1002/ajpa.23356. Epub 2017 Nov 27.

12.

Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families.

Shah K, Mehmood S, Jan A, Abbe I, Hussain Ali R, Khan A, Chishti MS, Lee K, Ahmad F, Ansar M; University of Washington Center for Mendelian Genomics, Shahzad S, Nickerson DA, Bamshad MJ, Coucke PJ, Santos-Cortez RLP, Spritz RA, Leal SM, Ahmad W.

Int J Dermatol. 2017 Dec;56(12):1406-1413. doi: 10.1111/ijd.13778.

13.

Systems biology of facial development: contributions of ectoderm and mesenchyme.

Hooper JE, Feng W, Li H, Leach SM, Phang T, Siska C, Jones KL, Spritz RA, Hunter LE, Williams T.

Dev Biol. 2017 Jun 1;426(1):97-114. doi: 10.1016/j.ydbio.2017.03.025. Epub 2017 Mar 29.

14.

Genetics of Vitiligo.

Spritz RA, Andersen GH.

Dermatol Clin. 2017 Apr;35(2):245-255. doi: 10.1016/j.det.2016.11.013. Review.

15.

NLRP1 promotes tumor growth by enhancing inflammasome activation and suppressing apoptosis in metastatic melanoma.

Zhai Z, Liu W, Kaur M, Luo Y, Domenico J, Samson JM, Shellman YG, Norris DA, Dinarello CA, Spritz RA, Fujita M.

Oncogene. 2017 Jul 6;36(27):3820-3830. doi: 10.1038/onc.2017.26. Epub 2017 Mar 6.

16.

Rapid automated landmarking for morphometric analysis of three-dimensional facial scans.

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.

J Anat. 2017 Apr;230(4):607-618. doi: 10.1111/joa.12576. Epub 2017 Jan 12.

17.

Human Facial Shape and Size Heritability and Genetic Correlations.

Cole JB, Manyama M, Larson JR, Liberton DK, Ferrara TM, Riccardi SL, Li M, Mio W, Klein OD, Santorico SA, Hallgrímsson B, Spritz RA.

Genetics. 2017 Feb;205(2):967-978. doi: 10.1534/genetics.116.193185. Epub 2016 Dec 14.

18.

Recessive progressive symmetric erythrokeratoderma results from a homozygous loss-of-function mutation of KRT83 and is allelic with dominant monilethrix.

Shah K, Ansar M, Mughal ZU, Khan FS, Ahmad W, Ferrara TM, Spritz RA.

J Med Genet. 2017 Mar;54(3):186-189. doi: 10.1136/jmedgenet-2016-104107. Epub 2016 Dec 13.

PMID:
27965375
19.

Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

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.

Nat Genet. 2016 Nov;48(11):1418-1424. doi: 10.1038/ng.3680. Epub 2016 Oct 10.

20.

Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo.

Jin Y, Andersen GHL, Santorico SA, Spritz RA.

J Invest Dermatol. 2017 Feb;137(2):522-524. doi: 10.1016/j.jid.2016.09.021. Epub 2016 Oct 5. No abstract available.

21.

Homozygous SLCO2A1 translation initiation codon mutation in a Pakistani family with recessive isolated congenital nail clubbing.

Shah K, Ferrara TM, Jan A, Umair M, Irfanullah, Khan S, Ahmad W, Spritz RA.

Br J Dermatol. 2017 Aug;177(2):546-548. doi: 10.1111/bjd.15094. Epub 2017 Jun 22. No abstract available.

PMID:
27681482
22.

Genomewide Association Study of African Children Identifies Association of SCHIP1 and PDE8A with Facial Size and Shape.

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.

PLoS Genet. 2016 Aug 25;12(8):e1006174. doi: 10.1371/journal.pgen.1006174. eCollection 2016 Aug.

23.

Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology.

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.

PLoS Genet. 2016 Aug 25;12(8):e1006149. doi: 10.1371/journal.pgen.1006149. eCollection 2016 Aug.

24.

The FaceBase Consortium: a comprehensive resource for craniofacial researchers.

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; FaceBase Consortium, Chai Y.

Development. 2016 Jul 15;143(14):2677-88. doi: 10.1242/dev.135434. Epub 2016 Jun 10.

25.

Genetic structure of phenotypic robustness in the collaborative cross mouse diallel panel.

Gonzalez PN, Pavlicev M, Mitteroecker P, Pardo-Manuel de Villena F, Spritz RA, Marcucio RS, Hallgrímsson B.

J Evol Biol. 2016 Sep;29(9):1737-51. doi: 10.1111/jeb.12906. Epub 2016 Jul 8.

26.

Multiplex SNaPshot-a new simple and efficient CYP2D6 and ADRB1 genotyping method.

Ben S, Cooper-DeHoff RM, Flaten HK, Evero O, Ferrara TM, Spritz RA, Monte AA.

Hum Genomics. 2016 Apr 23;10:11. doi: 10.1186/s40246-016-0073-3.

27.

MHC class II super-enhancer increases surface expression of HLA-DR and HLA-DQ and affects cytokine production in autoimmune vitiligo.

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.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1363-8. doi: 10.1073/pnas.1523482113. Epub 2016 Jan 19.

28.

Autoimmune vitiligo is associated with gain-of-function by a transcriptional regulator that elevates expression of HLA-A*02:01 in vivo.

Hayashi M, Jin Y, Yorgov D, Santorico SA, Hagman J, Ferrara TM, Jones KL, Cavalli G, Dinarello CA, Spritz RA.

Proc Natl Acad Sci U S A. 2016 Feb 2;113(5):1357-62. doi: 10.1073/pnas.1525001113. Epub 2016 Jan 19.

29.

SASH1 Is Involved in an Autosomal Dominant Lentiginous Phenotype.

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.

J Invest Dermatol. 2015 Dec;135(12):3192-3194. doi: 10.1038/jid.2015.292. Epub 2015 Jul 23. No abstract available.

30.

Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry.

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.

Am J Med Genet A. 2015 Oct;167A(10):2344-9. doi: 10.1002/ajmg.a.37181. Epub 2015 Jul 22.

PMID:
26198054
31.

Major association of vitiligo with HLA-A*02:01 in Japanese.

Jin Y, Hayashi M, Fain PR, Suzuki T, Fukai K, Oiso N, Tanemura A, Holcomb CL, Rastrou M, Erlich HA, Spritz RA.

Pigment Cell Melanoma Res. 2015 May;28(3):360-2. doi: 10.1111/pcmr.12356. Epub 2015 Feb 17. No abstract available.

32.

Tfap2a-dependent changes in mouse facial morphology result in clefting that can be ameliorated by a reduction in Fgf8 gene dosage.

Green RM, Feng W, Phang T, Fish JL, Li H, Spritz RA, Marcucio RS, Hooper J, Jamniczky H, Hallgrímsson B, Williams T.

Dis Model Mech. 2015 Jan;8(1):31-43. doi: 10.1242/dmm.017616. Epub 2014 Nov 7.

33.

Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.

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.

Mol Genet Genomic Med. 2014 Sep;2(5):422-9. doi: 10.1002/mgg3.84. Epub 2014 May 20.

34.

Facial morphometrics of children with non-syndromic orofacial clefts in Tanzania.

Manyama M, Larson JR, Liberton DK, Rolian C, Smith FJ, Kimwaga E, Gilyoma J, Lukowiak KD, Spritz RA, Hallgrimsson B.

BMC Oral Health. 2014 Jul 29;14:93. doi: 10.1186/1472-6831-14-93.

35.

A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer.

Lazova R, Laberge GS, Duvall E, Spoelstra N, Klump V, Sznol M, Cooper D, Spritz RA, Chang JT, Pawelek JM.

PLoS One. 2013 Jun 26;8(6):e66731. doi: 10.1371/journal.pone.0066731. Print 2013.

36.

Modern vitiligo genetics sheds new light on an ancient disease.

Spritz RA.

J Dermatol. 2013 May;40(5):310-8. doi: 10.1111/1346-8138.12147. Review.

37.

NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome.

Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA.

Proc Natl Acad Sci U S A. 2013 Feb 19;110(8):2952-6. doi: 10.1073/pnas.1222808110. Epub 2013 Feb 4.

38.

Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation.

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.

J Hepatol. 2013 May;58(5):969-76. doi: 10.1016/j.jhep.2012.12.027. Epub 2013 Jan 15.

39.

Risk of generalized vitiligo is associated with the common 55R-94A-247H variant haplotype of GZMB (encoding granzyme B).

Ferrara TM, Jin Y, Gowan K, Fain PR, Spritz RA.

J Invest Dermatol. 2013 Jun;133(6):1677-9. doi: 10.1038/jid.2013.5. Epub 2013 Jan 15. No abstract available.

40.

Association of generalized vitiligo with MHC class II loci in patients from the Indian subcontinent.

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.

J Invest Dermatol. 2013 May;133(5):1369-72. doi: 10.1038/jid.2012.501. Epub 2013 Jan 10. No abstract available.

41.

Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance.

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.

J Invest Dermatol. 2012 Oct;132(10):2440-2450. doi: 10.1038/jid.2012.161. Epub 2012 May 24.

42.

Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

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.

Nat Genet. 2012 May 6;44(6):676-80. doi: 10.1038/ng.2272.

43.

Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation.

Jin Y, Ferrara T, Gowan K, Holcomb C, Rastrou M, Erlich HA, Fain PR, Spritz RA.

J Invest Dermatol. 2012 Jun;132(6):1730-3. doi: 10.1038/jid.2012.37. Epub 2012 Mar 8. No abstract available.

44.

The genetics of vitiligo.

Spritz RA.

J Invest Dermatol. 2011 Nov 17;131(E1):E18-20. doi: 10.1038/skinbio.2011.7. Review. No abstract available.

45.

Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort.

Weatherley-White RC, Ben S, Jin Y, Riccardi S, Arnold TD, Spritz RA.

Am J Med Genet A. 2011 Oct;155A(10):2422-25.

PMID:
22043487
46.

Six decades of vitiligo genetics: genome-wide studies provide insights into autoimmune pathogenesis.

Spritz RA.

J Invest Dermatol. 2012 Feb;132(2):268-73. doi: 10.1038/jid.2011.321. Epub 2011 Oct 13. Review.

47.

Recent progress in the genetics of generalized vitiligo.

Spritz RA.

J Genet Genomics. 2011 Jul 20;38(7):271-8. doi: 10.1016/j.jgg.2011.05.005. Epub 2011 Jun 12. Review.

48.

Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset.

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, Taïeb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA.

J Invest Dermatol. 2011 Jun;131(6):1308-12. doi: 10.1038/jid.2011.12. Epub 2011 Feb 17.

49.

Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP.

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, Lambert J, Overbeck A, Fain PR, Spritz RA.

J Invest Dermatol. 2011 Feb;131(2):371-81. doi: 10.1038/jid.2010.337. Epub 2010 Nov 18.

50.

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