WilliamWilcoxMDPhD

PubMed

• 2 citations
  Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to ...
  Christoph Wanner, Alberto Ortiz, William R Wilcox, Robert J Hopkin, Jack Johnson, Elvira Ponce, Johan T Ebels, Julie L Batista, Manish Maski, Juan M Politei, Ana Maria...> ;Molecular Genetics and Metabolism. 2023 Jul 1
• 6 citations
  Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
  Robert J Hopkin, Gustavo H Cabrera, John L Jefferies, Meng Yang, Elvira Ponce, Eva Brand, Ulla Feldt-Rasmussen, Dominique P Germain, Nathalie Guffon, Ana Jovanovic, Il...> ;Molecular Genetics and Metabolism. 2023 Feb 1
• 9 citations
  Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 stud...
  Patrick B Deegan, Ozlem Goker-Alpan, Tarekegn Geberhiwot, Robert J Hopkin, Elena Lukina, Anna Tylki-Szymanska, Atef Zaher, Charlotte Sensinger, Sebastiaan J M Gaemers,...> ;Molecular Genetics and Metabolism. 2023 Feb 1
• 4 citations
  Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study.
  Ravi Savarirayan, Melita Irving, Paul Harmatz, Borja Delgado, William R Wilcox, John Philips, Natalie Owen, Carlos A Bacino, Louise Tofts, Joel Charrow, Lynda E Polgre...> ;Genetics in Medicine. 2022 Dec 1
• 2 citations
  Expanding the phenotypic spectrum of ARCN1-related syndrome.
  Ritter, A., Gold, J., Hayashi, H., Ackermann, A., Hanke, S., Skraban, C., Cuddapah, S., Bhoj, E., Li, D., Kuroda, Y., Wen, J., Takeda, R., Bibb, A., El Chehadeh, S., P...> ;Genetics in Medicine. 2022 Jun 1
• 6 citations
  Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
  Amy Brower, Kee Chan, Marc Williams, Susan Berry, Robert Currier, Piero Rinaldo, Michele Caggana, Amy Gaviglio, William Wilcox, Robert Steiner, Ingrid A Holm, Jennifer...> ;Frontiers in Genetics. 2022 Jan 1
• 4 citations
  The emerging neurological spectrum of AARS2-associated disorders
  Sahyli Perez Parra, Stephan Heckers, William R. Wilcox, Colin D. McKnight, H.A. Jinnah> ;Parkinsonism & Related Disorders. 2021 Nov 10
• 4 citations
  Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
  Laura M. Davids, Yuxian Sun, Reneé H. Moore, Emily C Lisi, Angela Wittenauer, William R. Wilcox, Nadia Ben Ali> ;Molecular Genetics and Metabolism. 2021 Sep 15
• 8 citations
  Pharmacokinetics and Exposure–Response of Vosoritide in Children with Achondroplasia
  Ming Liang Chan, Yulan Qi, Kevin Larimore, Anu Cherukuri, Lori Seid, Kala Jayaram, George Jeha, Elena Fisheleva, Jonathan Day, Alice Huntsman-Labed, Ravi Savarirayan, ...> ;Clinical Pharmacokinetics. 2021 Aug 25
• 28 citations
  Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Genetics in Medicine. 2021 Aug 2
• 11 citations
  Fabry disease and COVID-19: international expert recommendations for management based on real-world experience
  Dawn Laney, Dominique P. Germain, João Paulo Oliveira, Alessandro P. Burlina, Gustavo Cabrera, Geu-Ru Hong, Robert J. Hopkin, Dau-Ming Niu, Mark Thomas, Hernán Trimarc...> ;Clinical Kidney Journal. 2020 Dec 24
• 8 citations
  Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysi...
  Robert J. Hopkin, Ulla Feldt-Rasmussen, Dominique P. Germain, Ana Jovanovic, Ana Maria Martins, Kathleen Nicholls, Alberto Ortiz, Juan Politei, Elvira Ponce, Carmen Va...> ;Molecular Genetics and Metabolism Reports. 2020 Oct 30
• 17 citations
  Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
  Patricia L. Hall, Hong Li, Arthur Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox> ;International Journal of Neonatal Screening. 2020 Oct 23
• 65 citations
  Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
  Ravi Savarirayan, Louise Tofts, Melita Irving, William R. Wilcox, Carlos A. Bacino, Julie Hoover-Fong, Rosendo Ullot Font, Paul Harmatz, Frank Rutsch, Michael B. Bober...> ;Lancet. 2020 Sep 5
• 38 citations
  Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty ...
  Dominique P. Germain, João Paulo Oliveira, Daniel G. Bichet, Han-Wook Yoo, Robert J. Hopkin, Roberta Lemay, Juan Politei, Christoph Wanner, William R. Wilcox, David G....> ;Journal of Medical Genetics. 2020 Mar 11
• 22 citations
  Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
  Patricia L. Hall, Rossana Sanchez, Arthur Hagar, S. Caleb Jerris, Angela Wittenauer, William R. Wilcox> ;International Journal of Neonatal Screening. 2020 Jan 14
• 42 citations
  De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
  , , , , , , , , , , , , , , , , , , > ;Human Mutation. 2019 Sep 10
• 26 citations
  Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
  Michael P. Whyte, Edward Leung, William R. Wilcox, Johannes G. Liese, Jesús Argente, Gabriel Á. Martos-Moreno, Amy Reeves, Kenji P Fujita, Scott Moseley, Christine Hof...> ;The Journal of Pediatrics. 2019 Apr 9
• 313 citations
  Fabry disease revisited: Management and treatment recommendations for adult patients
  Alberto Ortiz, Dominique P. Germain, Robert J. Desnick, Juan Politei, Michael Mauer, Alessandro P. Burlina, Christine M. Eng, Robert J. Hopkin, Dawn Laney, Aleš Linhar...> ;Molecular Genetics and Metabolism. 2018 Apr 1
• 17 citations
  Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California
  Natalie M. Gallant, Karen Leydiker, Yael Wilnai, Chung Lee, Fred Lorey, Lisa Feuchtbaum, H. Tang, Jennifer M. Carter, Gregory M. Enns, Seymour Packman, H.J. Lin, Willi...> ;Molecular Genetics and Metabolism. 2017 Nov 1
• 138 citations
  The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
  Elfrida R. Benjamin, Maria Cecilia Della Valle, Xiaoyang Wu, Evan Katz, Farhana Pruthi, Sarah Bond, Benjamin Bronfin, Hadis Williams, Julie Yu, Daniel G. Bichet, Domin...> ;Genetics in Medicine. 2017 Apr 1
• 221 citations
  Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
  Derralynn Hughes, Kathleen Nicholls, Suma P. Shankar, Gere Sunder-Plassmann, David M. Koeller, Khan Nedd, Gerard Vockley, Takashi Hamazaki, Robin H. Lachmann, Toya Oha...> ;Journal of Medical Genetics. 2017 Apr 1
• 20 citations
  Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry
  William R. Wilcox, Ulla Feldt-Rasmussen, Ana Maria Martins, Alberto Ortiz, Roberta Lemay, Ana Jovanovic, Dominique P. Germain, Carmen Varas, Kathy Nicholls, Frank Weid...> ;JIMD Reports. 2017 May 17
• 31 citations
  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 Reg...
  Robert J. Hopkin, Gustavo Cabrera, Joel Charrow, Roberta Lemay, Ana Maria Martins, Michael Mauer, Alberto Ortiz, Manesh R. Patel, Katherine B. Sims, Stephen Waldek, Da...> ;Molecular Genetics and Metabolism. 2016 Sep 1
• 299 citations
  Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat
  Dominique P. Germain, Derralynn Hughes, Kathleen Nicholls, Daniel G. Bichet, Roberto Giugliani, William R. Wilcox, Claudio Feliciani, Suma P. Shankar, Fatih Süheyl Ezg...> ;The New England Journal of Medicine. 2016 Aug 10
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Journal Articles

• Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a lys650met mutation in fi...  
  Bellus, G.A., Bamshad, M.J., Przylepa, K., Dorst, J., Lee, R., Hurko, O., Jabs, E.W., Curry, C.J.R., Wilcox, W.R., Lachman, R.S., Rimoin, D.L., Francomano, C.A, Am. J. Med. Genet. 85:53-65
• Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome.  
  Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossman, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D, Nat. Genet. 22:291-294
• Small deletions in the type II collagen triple helix produce Kniest dysplasia.  
  Wilkin, D.J., Artz, A.S., South, S., Lachman, R.S., Rimoin, D.L., Wilcox, W.R., McKusick, V.A., Stratakis, C.A., Francomano, C.A., Cohn, D.H, Am. J. Med. Genet. 85:105-112
• Human Ehlers-Danlos syndrome type VIIC and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.  
  Colige, A., Sieron, A.L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D.H., Reardon, W., Byers, P.H., Lapière, C.M., Prockop, D.J..., Am. J. Hum. Genet. 65:308-317
• Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia.  
  Spayde, E.C., Joshi, A.P., Wilcox, W.R., Briggs, M., Cohn, D.H., Olsen, B.R, Matrix Biol. 19:121-128
• Exclusion of the Ellis van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.  
  Krakow, D., Salazar, D., Wilcox, W., Cohn D, Europ. J. Hum. Genet. 8:645-648
• Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.  
  Savarirayan, R., Cormier-Daire, V., Unger, S., Lachman, R.S., Roughley, P.J., Wagner, S.F., Rimoin, D.L., Wilcox, W.R, Am. J. Med. Genet. 95:193-200
• Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.  
  Quadrelli, R., Vaglio, A., Reyno, S., Lemes, A., Salazar, D., Lachman, R.S., Wilcox, W.R, Am. J. Med. Genet. 95:247-265
• Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondyloco...  
  Iughetti, P., Alonso, L.G., Wilcox, W.R., Alonso, N., Passos-Bueno, M.R, Am. J. Med. Genet. 95:482-491
• Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an ala391glu subsitution in FGFR3.  
  Schweitzer, D.N., Graham, J.M. Jr., Lachman, R.S., Jabs, E.W., Okajima, K., Przylepa, K.A., Shanske, A., Chen, K., Neidich, J.A., Wilcox, W.R, Am J. Med. Genet. 98:75-91
• Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of perlecan.  
  Arikawa-Hirasawa, E., Wilcox, W.R., Le, A., Silverman, N., Govindraj, P., Hassell, J.R., Yamada, Y, Nat. Genet. 27:431-434.
• “Baby rattle” pelvis dysplasia.  
  Cormier-Daire, V., Savarirayan R., Lachman, R.S., Neidich, J.A., Grace, K., Rimoin, D.L., Wilcox, W.R., Am. J. Med. Genet. 100:37-42
• A multicenter, randomized, double-blind, placebo-controlled study of the safety and efficacy of recombinant human -galactosidase A replacement therapy in Fabry disease.  
  Eng, C.M., Guffon, N., Wilcox, W.R., Germain, D.P., Lee, P., Waldek, S., Caplan, L., Linthorst, G.E., Desnick, R.J, New Engl. J. Med. 345:9-16
• A recurrent splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda (SEDL).  
  Tiller, G.E., Hannig, V.L., Dozier, D., Carrel, L., Trevarthen, K.C., Wilcox, W.R., Mundlos, S., Haines, J.L., Gedeon, A.K., Gecz, J, Am. J. Hum. Genet. 68:1398-1407
• Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development.  
  Arikawa-Hirasawa, E., Wilcox, W.R., Yamada, Y, Am. J. Med. Genet. 106:254-257
• A single amino acid substitution (D1441Y) in the carboxy-terminal propetide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis im...  
  Pace, J.M., Chitayat, D., Atkinson, M., Wilcox, W.R., Schwarze U, Byers, P.H, J. Med. Genet. 39:23-29
• Orthopaedic manifestations of Marinesco-Sjogren syndrome.  
  Reinker, K., Hsia, Y.E., Rimoin, D.L., Henry, G., Yuen, J., Powell, B., Wilcox, W.R, J. Pediatr. Orthop. 22:399-403
• Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia—distinct from Neu-Laxova syndrome.  
  Elliott, A.M., Gonzales, M., Hoeffel, J.C., Le Merrer, M., Maroteaux, P., Encha-Razavi, F., Joye, N., Berchel, C., Fliegel, C., Aughton, D.J., Beaudry-Rodgers, K., Has..., Am. J. Med. Genet. 109:139-148
• Organization of the human liver carnitine palmitoyltransferase I gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.  
  Gobin, S., Bonnefont, J-P., Prip-Buus, C., Mugnier, C., Ferrec, M., Demaugre, F., Saudubray, J-M., Rostane, H., Djouadi, F., Wilcox, W.R., Cederbaum, S., Haas, R., Nyh..., Hum. Genet., 111:179-189
• Prenatal cortical hyperostosis (Caffey disease).  
  Savarirayan, R., Cormier-Daire, V., Amor, D.J., Wilcox, W.R., Lachman, R.S., Rimoin, D.L, Pediatr. Radiol., 32:694
• Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.  
  Desnick, R.J., Barranger, J., Brady, R., Collins, A., Germain, D.P., Goldman, M., Grabowski, G., Packman, S., Wilcox, W.R, Ann. Int. Med., 138:338-346
• Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene.  
  Waterham, H.R., Koster, J., Mooyer, P., Noort, Gv.G., Kelley, R.I., Wilcox, W.R., Wanders, R.J., Hennekam, R.C., Oosterwijk, J.C, Am. J. Hum. Genet. 72:1013-1017
• Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.  
  Miller, S.F., Proud, V.K., Werner, A.L., Field, F.M., Wilcox, W.R., Lachman, R.S., Rimoin, D.L, Pediatr. Radiol. 33:256-260
• Fabry disease in a renal allograft.  
  Puliyanda, D., Wilcox, W., Nast, C., Jordan, S, Am. J. Transplant. 3:1030-1032
• Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and Short Rib-Polydactyly Type III syndromes.  
  Takamine, Y., Krejci, P., Mekikian, P.B., Wilcox, W.R, Am. J. Med. Genet. 130A:96-97
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Books/Book Chapters

• Principles and Practice of Medical Genetics. 
  Chapter: Amino acid disorders. 
  Cederbaum, S., Scott, R., Wilcox, W.REditors: Emery, A.E.H., Rimoin, D.L. (eds.).Churchill Livingstone, LondonEdition 3,
• Surgical Diseases of the Spleen. 
  Chapter: Metabolic disorders and the spleen 
  Wilcox, W.REditors: Hiatt, J.R., Phillips, E.H., Morgenstern, L. (eds.).Springer, Berlin
• Principles and Practice of Medical Genetics. 
  Chapter: Amino acid disorders 
  Wilcox, W.R., Cederbaum, SEditors: Emery, A.E.H., Rimoin, D.L. (eds.).Churchill Livingstone, LondonEdition 4,
• Child Neurology. 
  Chapter: Inherited metabolic diseases of the nervous system. 
  Menkes, J.H., Wilcox, W.REditors: Menkes, J.H., Sarnot, H.B., Maria, B.L. (eds.).Williams & Wilkins, PhiladelphiaEdition 7,
• Principles and Practice of Medical Genetics. 
  Chapter: Amino acid disorders 
  Wilcox, W.R., Cederbaum, SEditors: Emery, A.E.H., Rimoin, D.L. (eds.).Churchill Livingstone, LondonEdition 5,
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Abstracts/Posters

• Molecular, radiographic and histopathologic correlations in thanatophoric dysplasia.
  Wilcox, W., Tavormina, P., Krakow, D., Lachman, R., Wasmuth, J., Thompson, L., and Rimoin, D, International Skeletal Dysplasia Meeting, Marina Del Rey
• Cummings syndrome: report of 2 additional cases.
  Dibbern, K., Graham, J., Lachman, R., Rimoin, D., Wilcox, W, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Platyspondylic lethal skeletal dysplasia with secondary pelvic ossification centers: a subtype of the San Diego variant or a distinct entity?
  Kitoh, H., Lachman, R., Rimoin, D., Wilcox, W, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Mutations in and around the SOX9 gene in campomelic dysplasia: a general lack of genotype/phenotype correlations.
  Scherer, G., Pfeifer, D., Kist, R., Held, M., Sudbeck, P., Wilcox, W., Opitz, J., Korniszewksi, L., Stankiewicz, P., Back, E, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Tracing the biochemical pathogenesis of DTDST chondrodysplasias: correlations between residual transporter activity in vitro, degree of undersulfation in cartilage an...
  Rossi, A., Kaitila, I., Cohn, D., Wilcox, W., Rimoin, D., Steinmann, B., Superti-Furga, A, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
  Weis, M., Wilkin, D., Kim, H., Wilcox, W., Lachman, R., Rimoin, D., Cohn, D., Eyre, D, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Radiographic and morphologic findings in a previously undescribed case of mesomelic dysplasia.
  Brodie, S., Lachman, R., Crandall, B., Fox, M., Rimoin, D., Cohn, D., Wilcox, W, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Gracile bone dysplasia.
  Thomas, J., Rimoin, D., Lachman, R., Wilcox, W, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Schneckenbecken dysplasia: report of 8 new cases and further definition of the phenotype.
  Kim, C., Lachman, R., Rimoin, D., Wilcox, W, 3rd International Skeletal Dysplasia Meeting, Marina Del Rey
• Platyspondylic lethal skeletal dysplasia, San Diego type is caused by FGFR3 mutations.
  Kitoh, H., Brodie, S.G., Lachman, R.S., Rimoin, D.L., Wilcox, W.R, Society for Inherited Metabolic Disorders, Monterey.
• Homozygosity mapping of Marinesco-Sjögren syndrome to chromosome 5q31.
  Li, S., He, W., Wertelecki, W., Brodie, S.G., Wilcox, W.R, Society for Inherited Metabolic Disorders, Monterey
• Glasgow variant: a new case report of this rare skeletal dysplasia.
  Kostiner, D., Lachman, R., Wilcox, W., Blumberg, B., Cox, V., Golabi, M, Am. J. Hum. Genet. 63:A109
• Carnitine palmitoyl transferase type I deficiency- a recognizable phenotype with a favorable prognosis.
  Salazar, D., Wilcox, W.R, Society for Inherited Metabolic Disorders, Lake Lanier Islands
• Abnormal metabolism of 14-dehydrosterols in hydrops-ectopic-calcification-moth-eaten skeletal dysplasia: evidence for new defect of cholesterol biosynthesis.
  Kelley, R.I., Kratz, L.E., Wilcox, W.R, David Smith Society, Baden-Baden
• The emerging spectrum of cholesterol biosynthesis disorders.
  Wilcox, W.R., Kelley, R.I., Herman, G.E., Kratz, L.E., Lachman, R.S., Rimoin, D.L, 4th International Skeletal Dysplasia Meeting, Baden-Baden
• A molecular classification of the skeletal dysplasias.
  Rimoin, D.L., Wilcox, W., Cohn, D.H, 4th International Skeletal Dysplasia Meeting, Baden-Baden
• Presentation of 9 cases of generalized infantile cortical hyperostosis or “prenatal onset” Caffey disease.
  Cormier-Daire, V., Savarirayan, R., Wilcox, W., Rimoin D.L., Lachman, R.S, 4th International Skeletal Dysplasia Meeting, Baden-Baden
• Spondylometaphyseal dysplasia, giant cell type.
  Salazar, D., Graham, J., Lachman, R.S., Rimoin, D.L., Wilcox, W.R, 4th International Skeletal Dysplasia Meeting, Baden-Baden
• Prenatal cortical hyperostosis (Caffey disease): clinical, radiographic, and chondro-osseous findings in 9 new cases.
  Cormier-Daire, V., Savarirayan, R., Wilcox, W.R., Lachman, R.S., Rimoin, D.L, Am. J. Hum. Genet. 65 Suppl:A7
• A mild form of autosomal recessive craniotubular dysplasia in a large inbred Brazilian family.
  Passos-Bueno, M.R., Wilcox, W.R., Alonso, N., Alonso, L.G, Am. J. Hum. Genet. 65 Suppl:A337
• A new syndrome with large hands, foot deformities, and scoliosis maps to Xq24-Xq26.
  Salazar, D., Vaglio, A., Quadrelli, R., Reyno, S., Lemes, A., Lachman, R.S., Wilcox, W.R, Am. J. Hum. Genet. 65 Suppl:A342
• Achondroplasia/ hypochondroplasia intermediate phenotypes are also associated with the N540K substitution in the FGFR3 gene.
  Wilcox, W.R., Fano, V., Chertkoff, L., Bonaventure, G., Barreiro, C., Kitoh, H., Kim, D., Eswara, M., Shelley, S., Grix, A., Lachman, R.S., Lejarraga, H, Am. J. Hum. Genet. 65 Suppl:A498
• Characterizing the organization of the “liver-type” carnitine palmitoyltransferase 1 (L-CPT1) gene helps unravel the molecular basis of L-CPT1 deficiency in humans.
  Gobin S., Bonnefont, J.P., Prip-Buus, C., Munier, C., Ferrec, M., Avon A., DeMaugre, F., Saudubray, J.M., Kadhom, N., Wilcox, W., Cederbaum, S., Green, A., Gray, G., M..., Am. J. Hum. Genet. 67 Suppl:64
• Enzyme replacement therapy in Fabry disease: results of a placebo-controlled phase 3 trial.
  Eng, C.M., Cochat, P., Wilcox, W.R., Germain, D.P., Lee, P., Waldek, S., Caplan, L., Heymans, H., Braakman, T., Fitzpatrick, M.A., Huertas, P., O’Callaghan, M.W., Rich..., Am. J. Hum. Genet. 67 Suppl:38
• A functional null mutation of perlecan causes dyssegmental dysplasia, Silverman-Handmaker type.
  Wilcox, W.R., Arikawa-Hirasawa, E., Le, A., Govindraj, P., Hassell, J.R., Yamada, Y, American College of Human Genetics, Miami
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Lectures

• David Smith Conference On Dysmorphology. 
  Greenwood
• Bone Dysplasia Society. 
  Versailles
• Western Society for Pediatric Research. 
  Carmel
• 3rd International Skeletal Dysplasia Meeting. 
  Marina Del Rey
• 4th International Skeletal Dysplasia Meeting. 
  Baden-Baden
• Visiting Professor and invited lectures, Instituto de Genética Médica- Hospital Italiano. 
  Montevideo, Uruguay
• Visting Professor and invited lectures, Hospital de Pediatria, Buenos Aires. 
  Argentina
• Argentine Society of Pediatrics. 
  invited lecture
• Mexican Assocation of Human Genetics, Zacatecas, Mexico. 
  invited lecture
• NIH. 
  invited seminar
• American Society of Human Genetics. 
  invited talk
• American College of Medical Genetics. 
• Visiting Professor and invited lectures. 
  University of Oklahoma
• International Skeletal Dysplasia Society Meeting. 
  invited lecture
• Society for Inherited Metabolic Disorders. 
  invited lecture
• University of Minnesota. 
  Pediatric Grand Rounds
• International Collaborative Gaucher Group Investigators Meeting. 
  invited lecture
• Harbor-UCLA. 
  Nephrology Grand Rounds
• USC. 
  Neprhology Grand Round
• Southern California Nephrology Group. 
• Advances in the Treatment of Genetic Disease Symposium. 
  Newport Beach
• New Developments in Hyperphosphatemia Management. 
  Las Vegas
• Long Term Enzyme Replacement Therapy for Fabry Disease, 4th European Round Table on Fabry Disease. 
  Munich
• Tarzana Hospital. 
• American College of Medical Genetics. 
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