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Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.

Hall PL, Sanchez R, Hagar AF, Jerris SC, Wittenauer A, Wilcox WR.

Int J Neonatal Screen. 2020 Mar;6(1). doi: 10.3390/ijns6010002. Epub 2020 Jan 14.


De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.

Li J, Zhang J, Tang W, Mizu RK, Kusumoto H, XiangWei W, Xu Y, Chen W, Amin JB, Hu C, Kannan V, Keller SR, Wilcox WR, Lemke JR, Myers SJ, Swanger SA, Wollmuth LP, Petrovski S, Traynelis SF, Yuan H.

Hum Mutat. 2019 Dec;40(12):2393-2413. doi: 10.1002/humu.23895. Epub 2019 Sep 10.


Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.

Whyte MP, Leung E, Wilcox WR, Liese J, Argente J, Martos-Moreno GÁ, Reeves A, Fujita KP, Moseley S, Hofmann C; Study 011-10 Investigators.

J Pediatr. 2019 Jun;209:116-124.e4. doi: 10.1016/j.jpeds.2019.01.049. Epub 2019 Apr 9.


Fabry disease revisited: Management and treatment recommendations for adult patients.

Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR.

Mol Genet Metab. 2018 Apr;123(4):416-427. doi: 10.1016/j.ymgme.2018.02.014. Epub 2018 Feb 28. Review.


Camurati-Engelmann Disease.

Wallace SE, Wilcox WR.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2004 Jun 25 [updated 2017 Oct 12].


Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.

Gallant NM, Leydiker K, Wilnai Y, Lee C, Lorey F, Feuchtbaum L, Tang H, Carter J, Enns GM, Packman S, Lin HJ, Wilcox WR, Cederbaum SD, Abdenur JE.

Mol Genet Metab. 2017 Nov;122(3):76-84. doi: 10.1016/j.ymgme.2017.06.015. Epub 2017 Jul 8.


Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Wilcox WR, Feldt-Rasmussen U, Martins AM, Ortiz A, Lemay RM, Jovanovic A, Germain DP, Varas C, Nicholls K, Weidemann F, Hopkin RJ.

JIMD Rep. 2018;38:45-51. doi: 10.1007/8904_2017_28. Epub 2017 May 17.


Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.

Hughes DA, Nicholls K, Shankar SP, Sunder-Plassmann G, Koeller D, Nedd K, Vockley G, Hamazaki T, Lachmann R, Ohashi T, Olivotto I, Sakai N, Deegan P, Dimmock D, Eyskens F, Germain DP, Goker-Alpan O, Hachulla E, Jovanovic A, Lourenco CM, Narita I, Thomas M, Wilcox WR, Bichet DG, Schiffmann R, Ludington E, Viereck C, Kirk J, Yu J, Johnson F, Boudes P, Benjamin ER, Lockhart DJ, Barlow C, Skuban N, Castelli JP, Barth J, Feldt-Rasmussen U.

J Med Genet. 2017 Apr;54(4):288-296. doi: 10.1136/jmedgenet-2016-104178. Epub 2016 Nov 10. Erratum in: J Med Genet. 2018 Apr 16;:.


The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.

Benjamin ER, Della Valle MC, Wu X, Katz E, Pruthi F, Bond S, Bronfin B, Williams H, Yu J, Bichet DG, Germain DP, Giugliani R, Hughes D, Schiffmann R, Wilcox WR, Desnick RJ, Kirk J, Barth J, Barlow C, Valenzano KJ, Castelli J, Lockhart DJ.

Genet Med. 2017 Apr;19(4):430-438. doi: 10.1038/gim.2016.122. Epub 2016 Sep 22.


Risk factors for severe clinical events in male and female patients with Fabry disease treated with agalsidase beta enzyme replacement therapy: Data from the Fabry Registry.

Hopkin RJ, Cabrera G, Charrow J, Lemay R, Martins AM, Mauer M, Ortiz A, Patel MR, Sims K, Waldek S, Warnock DG, Wilcox WR.

Mol Genet Metab. 2016 Sep;119(1-2):151-9. doi: 10.1016/j.ymgme.2016.06.007. Epub 2016 Jun 13.


Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.

Germain DP, Hughes DA, Nicholls K, Bichet DG, Giugliani R, Wilcox WR, Feliciani C, Shankar SP, Ezgu F, Amartino H, Bratkovic D, Feldt-Rasmussen U, Nedd K, Sharaf El Din U, Lourenco CM, Banikazemi M, Charrow J, Dasouki M, Finegold D, Giraldo P, Goker-Alpan O, Longo N, Scott CR, Torra R, Tuffaha A, Jovanovic A, Waldek S, Packman S, Ludington E, Viereck C, Kirk J, Yu J, Benjamin ER, Johnson F, Lockhart DJ, Skuban N, Castelli J, Barth J, Barlow C, Schiffmann R.

N Engl J Med. 2016 Aug 11;375(6):545-55. doi: 10.1056/NEJMoa1510198.


Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.

Krakow D, Cohn DH, Wilcox WR, Noh GJ, Raffel LJ, Sarukhanov A, Ivanova MH, Danielpour M, Grange DK, Elliott AM, Bernstein JA, Rimoin DL, Merrill AE, Lachman RS.

Am J Med Genet A. 2016 Oct;170(10):2652-61. doi: 10.1002/ajmg.a.37772. Epub 2016 May 30.


Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing.

Stanislaw C, Xue Y, Wilcox WR.

Cancer Biol Med. 2016 Mar;13(1):55-67. doi: 10.28092/j.issn.2095-3941.2016.0002.


Changing paradigm of cancer therapy: precision medicine by next-generation sequencing.

Xue Y, Wilcox WR.

Cancer Biol Med. 2016 Mar;13(1):12-8. doi: 10.28092/j.issn.2095-3941.2016.0003.


Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.

Xue Y, Schoser B, Rao AR, Quadrelli R, Vaglio A, Rupp V, Beichler C, Nelson SF, Schapacher-Tilp G, Windpassinger C, Wilcox WR.

Circ Cardiovasc Genet. 2016 Apr;9(2):130-5. doi: 10.1161/CIRCGENETICS.115.001193. Epub 2016 Mar 1.


The management and treatment of children with Fabry disease: A United States-based perspective.

Hopkin RJ, Jefferies JL, Laney DA, Lawson VH, Mauer M, Taylor MR, Wilcox WR; Fabry Pediatric Expert Panel.

Mol Genet Metab. 2016 Feb;117(2):104-13. doi: 10.1016/j.ymgme.2015.10.007. Epub 2015 Oct 23. Review.


Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.

Warnock DG, Thomas CP, Vujkovac B, Campbell RC, Charrow J, Laney DA, Jackson LL, Wilcox WR, Wanner C.

J Med Genet. 2015 Dec;52(12):860-6. doi: 10.1136/jmedgenet-2015-103471. Epub 2015 Oct 21.


Response to Saul.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2015 Sep;17(9):761. doi: 10.1038/gim.2015.114. No abstract available.


Congenital limb deficiency disorders.

Wilcox WR, Coulter CP, Schmitz ML.

Clin Perinatol. 2015 Jun;42(2):281-300, viii. doi: 10.1016/j.clp.2015.02.004. Review.


A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).

Lee H, Nevarez L, Lachman RS, Wilcox WR, Krakow D, Cohn DH; University of Washington Center for Mendelian Genomics.

Am J Med Genet A. 2015 Oct;167A(10):2470-3. doi: 10.1002/ajmg.a.37173. Epub 2015 May 22. No abstract available.


Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.

J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.


Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.

Wendt DJ, Dvorak-Ewell M, Bullens S, Lorget F, Bell SM, Peng J, Castillo S, Aoyagi-Scharber M, O'Neill CA, Krejci P, Wilcox WR, Rimoin DL, Bunting S.

J Pharmacol Exp Ther. 2015 Apr;353(1):132-49. doi: 10.1124/jpet.114.218560. Epub 2015 Feb 3.


FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.

Xue Y, Sun A, Mekikian PB, Martin J, Rimoin DL, Lachman RS, Wilcox WR.

Mol Genet Genomic Med. 2014 Nov;2(6):497-503. doi: 10.1002/mgg3.96. Epub 2014 Aug 5.


Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.

Xue Y, Ankala A, Wilcox WR, Hegde MR.

Genet Med. 2015 Jun;17(6):444-51. doi: 10.1038/gim.2014.122. Epub 2014 Sep 18. Review.


Fabry disease in infancy and early childhood: a systematic literature review.

Laney DA, Peck DS, Atherton AM, Manwaring LP, Christensen KM, Shankar SP, Grange DK, Wilcox WR, Hopkin RJ.

Genet Med. 2015 May;17(5):323-30. doi: 10.1038/gim.2014.120. Epub 2014 Sep 18. Review.


A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.

VanderMeer JE, Lozano R, Sun M, Xue Y, Daentl D, Jabs EW, Wilcox WR, Ahituv N.

Hum Mutat. 2014 Aug;35(8):945-8. doi: 10.1002/humu.22581. Epub 2014 Jun 3.


Fibroblast growth factor receptor 3 interacts with and activates TGFβ-activated kinase 1 tyrosine phosphorylation and NFκB signaling in multiple myeloma and bladder cancer.

Salazar L, Kashiwada T, Krejci P, Meyer AN, Casale M, Hallowell M, Wilcox WR, Donoghue DJ, Thompson LM.

PLoS One. 2014 Jan 23;9(1):e86470. doi: 10.1371/journal.pone.0086470. eCollection 2014.


More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.

Pimienta AL, Wilcox WR, Reinstein E.

Am J Med Genet A. 2013 Dec;161A(12):3126-9. doi: 10.1002/ajmg.a.36161. Epub 2013 Aug 16.


Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.

Ezgu F, Krejci P, Li S, de Sousa C, Graham JM Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox WR.

Clin Genet. 2014 Jul;86(1):74-84. doi: 10.1111/cge.12230. Epub 2013 Jul 30.


Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.

Ezgu F, Krejci P, Wilcox WR.

Gene. 2013 Jul 25;524(2):403-6. doi: 10.1016/j.gene.2013.03.026. Epub 2013 Apr 20.


Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

Krejci P, Aklian A, Kaucka M, Sevcikova E, Prochazkova J, Masek JK, Mikolka P, Pospisilova T, Spoustova T, Weis M, Paznekas WA, Wolf JH, Gutkind JS, Wilcox WR, Kozubik A, Jabs EW, Bryja V, Salazar L, Vesela I, Balek L.

PLoS One. 2012;7(4):e35826. doi: 10.1371/journal.pone.0035826. Epub 2012 Apr 27.


Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

Merrill AE, Sarukhanov A, Krejci P, Idoni B, Camacho N, Estrada KD, Lyons KM, Deixler H, Robinson H, Chitayat D, Curry CJ, Lachman RS, Wilcox WR, Krakow D.

Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1.


Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, Beitner-Johnson D, Cizmarik M, Cole JA, Kingma W, Warnock DG.

Mol Genet Metab. 2012 Mar;105(3):443-9. doi: 10.1016/j.ymgme.2011.12.006. Epub 2011 Dec 14.


Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.

Foldynova-Trantirkova S, Wilcox WR, Krejci P.

Hum Mutat. 2012 Jan;33(1):29-41. doi: 10.1002/humu.21636. Epub 2011 Nov 16. Review.


Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.

Reinstein E, Wang RY, Zhan L, Rimoin DL, Wilcox WR.

Am J Med Genet A. 2011 Apr;155A(4):742-7. doi: 10.1002/ajmg.a.33914. Epub 2011 Mar 15.


Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases.

Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1.


The novel JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression of human myeloma cell growth and survival.

Scuto A, Krejci P, Popplewell L, Wu J, Wang Y, Kujawski M, Kowolik C, Xin H, Chen L, Wang Y, Kretzner L, Yu H, Wilcox WR, Yen Y, Forman S, Jove R.

Leukemia. 2011 Mar;25(3):538-50. doi: 10.1038/leu.2010.289. Epub 2010 Dec 17.


Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

Tompson SW, Bacino CA, Safina NP, Bober MB, Proud VK, Funari T, Wangler MF, Nevarez L, Ala-Kokko L, Wilcox WR, Eyre DR, Krakow D, Cohn DH.

Am J Hum Genet. 2010 Nov 12;87(5):708-12. doi: 10.1016/j.ajhg.2010.10.009. Epub 2010 Oct 28.


Mitogen-activated protein kinases promote WNT/beta-catenin signaling via phosphorylation of LRP6.

Červenka I, Wolf J, Mašek J, Krejci P, Wilcox WR, Kozubík A, Schulte G, Gutkind JS, Bryja V.

Mol Cell Biol. 2011 Jan;31(1):179-89. doi: 10.1128/MCB.00550-10. Epub 2010 Oct 25.


BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.

Funari VA, Krakow D, Nevarez L, Chen Z, Funari TL, Vatanavicharn N, Wilcox WR, Rimoin DL, Nelson SF, Cohn DH.

Am J Hum Genet. 2010 Oct 8;87(4):532-7. doi: 10.1016/j.ajhg.2010.08.015.


Medical foods: inborn errors of metabolism and the reimbursement dilemma.

Weaver MA, Johnson A, Singh RH, Wilcox WR, Lloyd-Puryear MA, Watson MS.

Genet Med. 2010 Jun;12(6):364-9. doi: 10.1097/GIM.0b013e3181deb2f0. Erratum in: Genet Med. 2013 Feb;15(2):161.


NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells.

Krejci P, Murakami S, Prochazkova J, Trantirek L, Chlebova K, Ouyang Z, Aklian A, Smutny J, Bryja V, Kozubik A, Wilcox WR.

J Biol Chem. 2010 Jul 2;285(27):20644-53. doi: 10.1074/jbc.M109.083626. Epub 2010 May 3.


FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence.

Krejci P, Prochazkova J, Smutny J, Chlebova K, Lin P, Aklian A, Bryja V, Kozubik A, Wilcox WR.

Bone. 2010 Jul;47(1):102-10. doi: 10.1016/j.bone.2010.03.021. Epub 2010 Mar 31.


Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.

Wu JC, Ho CY, Skali H, Abichandani R, Wilcox WR, Banikazemi M, Packman S, Sims K, Solomon SD.

Eur Heart J. 2010 May;31(9):1088-97. doi: 10.1093/eurheartj/ehp588. Epub 2010 Jan 7.


Molecular pathology of the fibroblast growth factor family.

Krejci P, Prochazkova J, Bryja V, Kozubik A, Wilcox WR.

Hum Mutat. 2009 Sep;30(9):1245-55. doi: 10.1002/humu.21067. Review.


A novel interaction between fibroblast growth factor receptor 3 and the p85 subunit of phosphoinositide 3-kinase: activation-dependent regulation of ERK by p85 in multiple myeloma cells.

Salazar L, Kashiwada T, Krejci P, Muchowski P, Donoghue D, Wilcox WR, Thompson LM.

Hum Mol Genet. 2009 Jun 1;18(11):1951-61. doi: 10.1093/hmg/ddp116. Epub 2009 Mar 13.


Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.

Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ.

Nephrol Dial Transplant. 2009 Jul;24(7):2102-11. doi: 10.1093/ndt/gfp031. Epub 2009 Feb 13.


Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.

Krejci P, Salazar L, Kashiwada TA, Chlebova K, Salasova A, Thompson LM, Bryja V, Kozubik A, Wilcox WR.

PLoS One. 2008;3(12):e3961. doi: 10.1371/journal.pone.0003961. Epub 2008 Dec 17.


Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.

Whitley CB, Barranger JA, Eng CM, Davidson BL, Grabowski GA, Kohler B, Muenzer J, Murray GJ, Pastores GM, Patel SK, Shapiro EG, Steiner RD, Walkley SU, Wedehase BA, Wilcox WR.

Mol Genet Metab. 2009 Feb;96(2):S3-5. doi: 10.1016/j.ymgme.2008.11.162. Epub 2008 Dec 10. No abstract available.


Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.

Hennies HC, Kornak U, Zhang H, Egerer J, Zhang X, Seifert W, Kühnisch J, Budde B, Nätebus M, Brancati F, Wilcox WR, Müller D, Kaplan PB, Rajab A, Zampino G, Fodale V, Dallapiccola B, Newman W, Metcalfe K, Clayton-Smith J, Tassabehji M, Steinmann B, Barr FA, Nürnberg P, Wieacker P, Mundlos S.

Nat Genet. 2008 Dec;40(12):1410-2. doi: 10.1038/ng.252. Epub 2008 Nov 9.

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