WilliamWilcoxMDPhD

PubMed

• 9 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
  Molecular Genetics and Metabolism. 2023-07-01
• 15 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
  Molecular Genetics and Metabolism. 2023-02-01
• 8 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
  Molecular Genetics and Metabolism. 2023-02-01

Journal Articles

• Hydrophobic moments and protein structure.  
  Eisenberg, D., Weiss, R.M., Terwilliger, T.C., and Wilcox, W., Faraday Symp. Chem. Soc. 17:109 120
• The design, synthesis, and crystallization of an alpha helical peptide. Proteins: Structure, Function, and Genetics.  
  Eisenberg, D., Wilcox, W., Eshita, S.M., Pryciak, P.M., Ho, S.P., and DeGrado, W.F, 1:16 22
• Hydrophobicity and amphiphilicity in protein structure.  
  Eisenberg, D., Wilcox, W., and McLachlan, A.D, J. Cell. Biochem. 31:11 17
• Free energy and protein folding: hydrophobic moments and solvation free energy.  
  Eisenberg, D., Wilcox, W. and Eshita, S.M., In Computer Graphics, Cold Spring Harbor Press, Chapter 11
• Solvation energy contributions to binding energies. In Protein Structure, Folding, and Design 2,  
  Eisenberg, D., Wesson, M., Goodsell, D., Wilcox, W., Gribskov, M., Altschuh, D., and Rees, D.C, A. R. Liss, Inc., pp. 203 213
• Hydrophobic moments as tools for analyzing protein sequences and structures. In Prediction of Protein Structure and the Principles of Protein Conformation.  
  Eisenberg, D., Wesson, M., and Wilcox, W, Plenum Press, pp. 635 646
• An Experimental System for the Quantification of Forces Important in Protein Folding.  
  Wilcox, W, Dissertation.
• Thermodynamics of melittin tetramerization determined by circular dichroism and implications for protein folding.  
  Wilcox, W. and Eisenberg, D, Protein Science, 1:641-653
• Expression in cartilage of a 7-amino acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.  
  Bogaert, R., Wilkin, D., Wilcox, W.R., Lachman, R., Rimoin, D., Cohn, D.H., and Eyre, D.R, Am. J. Hum. Genet. 55:1128-1136
• Mutations affecting distinct functional domains of FGFR3 cause different types of thanatophoric dysplasia.  
  Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.-Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Wasmuth, J.J, Nature Genetics 9:321-328
• A radiographic, morphologic, biochemical, and molecular analysis of a case of achondrogenesis type II resulting from subsitution for a glycine residue (Gly691 -> Arg) ...  
  Mortier, G.R., Wilkin, D.J., Wilcox, W.R., Rimoin, D.L., Lachman, R.S., Eyre, D.R., and Cohn, D.H, Hum. Mol. Genet. 4:285-288
• Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulfate transporter gene.  
  Superti-Furga, A., Hästbacka, H., Wilcox, W., Cohn, D.H., van der Harten, H.J., Rossi, A., Blau, N., Rimoin, D.L., Steinmann, B., Lander, E.S., Gitzelmann, R, Nature Genet. 12:100-102
• Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporter gene (DTDST): evidence for a phenotypic series involving three chondr...  
  Hästbacka, J., Superti-Furga, A., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Lander, E.S, Am. J. Hum. Genet. 58:255-262
• A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.  
  Superti-Furga, A., Hästbacka, J., Rossi, A., van der Harten, J.J., Wilcox, W.R., Cohn, D.H., Rimoin, D.L., Steinmann, B., Lander, E.S., Gitzelmann, R, Ann. N.Y. Acad. Sci. 785:195-201
• Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.  
  Cohn, D.H., Briggs, M.D., King, L.M., Rimoin, D.L., Wilcox, W.R., Lachman, R.S., Knowlton, R.G, Ann. N.Y. Acad. Sci. 785:188-194
• Sulfate transport in chondrodysplasia.  
  Hästbacka, J., Superti-Furga, A., Wilcox, W.R., Rimoin, D.L., Cohn, D.H., Lander, E.S, Ann. N.Y. Acad. Sci. 785:131-136
• Clinical, biochemical and morphologic phenotype of a new case of Ehlers-Danlos type VII C.  
  Fujimoto, A., Wilcox, W.R., Cohn, D.H, Am. J. Med. Genet. 68:25-28
• Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.  
  Castriota-Scanderbeg, A., Mingarelli, R., Caramia, G., Osimani, P., Lachman, R.S., Rimoin, D.L., Wilcox, W.R., Dallapiccola, B, J. Med. Genet. 34:854-856
• Gracile bone dysplasia.  
  Thomas, J.A., Rimoin, D.L. , Lachman, R.S., Wilcox, W.R, Am. J. Med. Genet. 75:95-100
• Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.  
  Weis, M.A., Wilkin, D.J., Kim, H.J., Wilcox, W.R., Lachman, R.S., Rimoin, D.L., Cohn, D.H., Eyre, D.R, J. Biol. Chem. 273:4761-4768
• Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.  
  Briggs, M.D., Mortier, G.R., Cole, W.G., King, L.M., Golik, S.S., Bonaventure J., Nuytinck, L., De Paepe, A., Leroy, J.G., Biesecker, L., Lipson, M., Wilcox, W.R., Lac..., Am. J. Hum. Genet. 62:311-319
• Pacman dysplasia- report of two siblings.  
  Wilcox, W.R., Lucas, B.C., Loebel, B., Bachman, R.P., Lachman, R.S., Rimoin, D.L, Am. J. Med. Genet. 77:272-276
• Electron microscopical study in multiple epiphyseal dysplasia type II.  
  van Mourik J.B.A., Buma, P., Wilcox, W.R, Ultrastruct. Path. 22:249-251
• Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.  
  Wilcox, W.R., Tavormina, P.L., Krakow, D., Kitoh, H., Lachman, R.S., Wasmuth, J.J., Thompson, L.M., Rimoin, D.L, Am. J. Med. Genet., 78:274-281
• Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia San Diego type.  
  Kitoh, H., Lachman, R.S., Brodie, S.G., Mekikian, B., Rimoin, D.L., Wilcox, W.R, Pediatr. Radiol. 28:759-763
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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

• The acrocallosal syndrome: report of 4 cases, review of the literature, and proposed diagnostic criteria.
  Wilcox, W.R. and Graham, J.M, Proc. Greenwood Genetic Center 12:56
• A N-terminal glycine to cysteine mutation in the collagen 1(I) chain produces an unusually severe phenotype.
  Wilcox, W., Scott, L., and Cohn, D, Am. J. Hum. Genet. 55:A367
• Histologic abnormalities in a case of infantile multifocal osteolysis.
  Krakow, D., Wilcox, W., Lachman, R.S., and Rimoin, D.L, Am. J. Hum. Genet. 55:A85
• Radiographic and histologic abnormalities in sbilings with the Marinesco-Sjögren syndrome: report of skeletal involvement and further evidence for a storage disorder.
  Rimoin, D.L., Wilcox, W., Hsia, Y.E., Nolasco, L., Mekikian, B., and Lachman, R.S, Am. J. Hum. Genet. 55:A91
• Molecular, radiographic and histopathologic correlations in thanatophoric dysplasia and nosologic implications.
  Wilcox, W., Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.-Z., Wilkin, D.J., Cohn, D.H., Wasmuth, J.J., Lachman, R.S., and Rimoin, D.L, Bone Dysplasia Society, Versailles
• Marinesco-Sjögren syndrome is a lysosomal lipid storage disorder and is not corrected in vitro by co-culture with control cells.
  Wilcox, W., Graham, J.M., Reinker, K., Hsia, Y.E., Rimoin, D.L, Society for Pediatric Research
• Marinesco-Sjögren syndrome is a lysosomal lipid storage disorder and is not corrected in vitro by co-culture with control cells.
  Wilcox, W., Graham, J.M., Reinker, K., Hsia, Y.E., Rimoin, D.L, American College of Medical Genetics, Los Angeles
• Defective sulfation of proteoglycans in achondrogenesis type IB is caused by mutations in the DTDST gene: the disorder is allelic to diastrophic dysplasia.
  Superti-Furga, A., Hästbacka, J., Cohn, D.H., Wilcox, W., van der Harten, H.J., Rimoin, D.L., Lander, E.S., Steinmann, B., Gitzelmann, R, Am. J. Hum. Genet. 57:A243
• Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate transporter gene (DTDST).
  Hästbacka, J., Wilcox, W.R., Superti-Furga, A., Rimoin, D.L., Cohn, D.H., Lander, E.S, Am. J. Hum. Genet. 57:A244
• Mutation analysis in osteogenesis imperfecta patients with normal type I procollagen biochemical studies.
  Krakow, D., Wilcox, W.R., Lachman, R.S., King, L.M., Cohn, D.H, Am. J. Hum. Genet. 59:A266
• A new skeletal dysplasia with epiphyseal stippling and osteoclastic hyperactivity.
  Lucas, B.C., Wilcox, W.R., Bachman, R., Loebel, B., Lachman, R.S., Rimoin, D.L, Western Society for Pediatric Research, Carmel
• Molecular, radiographic, and histopathologic correlations in thanatophoric dysplasia.
  Wilcox, W.R., Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y-Z., Wilkin, D.J., Cohn, D.H., Wasmuth, J.J., Lachman, R.S., Rimoin, D.L, Western Society for Pediatric Research, Carmel
• Recurrent bilateral frontal pachygyria- a new neuronal migration disorder.
  Bhatt, S., Wilcox, W.R., Dobyns, W.B., Pressman, B.D., Graham, J.M., Jr, Western Society for Pediatric Research, Carmel
• In utero hematopoietic stem cell (HSC) transplantation: which diseases to treat?
  Parkman, R., Carlson, D., Falk, R., Platt, L., Wilcox, W., Kapoor, N., Weinberg, K., Zanjani, E.D, In Utero Stem Cell Transplantation and Gene Therapy Symposium, Reno, Nevada
• In utero bone marrow transplantation for severe genetic diseases using histoincompatible CD34+ cells.
  Parkman, D., Carlson, D., Crooks, G.M., Falk, R., Kohn, D.B., Platt, L., Weinberg, K.I., Wilcox, W., Zanjani, E, International Society for Experimental Hematology
• Geleophysic dysplasia- a lysosomal storage disorder with distinctive facies.
  Skinner, S.A., Wilcox, W.R., Spranger, J, David Smith conference on dysmorphology
• Radiographic and morphologic findings in a previously undescribed type of atelosteogenesis.
  Brodie, S.G., Lachman, R.S., Crandall, B., Fox, M., Rimoin, D.L., Cohn, D.H., Wilcox, W.R, Am. J. Hum. Genet. 61:A92
• Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
  Wilcox, W.R., Tavormina, P.L., Krakow, D., Lachman, R.S., Wasmuth, J.J., Thompson, L.M., Rimoin, D.L, Am. J. Hum. Genet. 61:A116.
• 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
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Lectures

• 10th Annual Asia Pacific LSD Symposium. 
  Kuala Lumpur
• L.A. Office of the County Counsel. 
• L.A. County Coroner’s Office. 
• Kaiser Panorama City. 
• Portuguese Metabolic Society. 
• USC Nephrology Grand Rounds. 
• USC Cardiology Grand Rounds. 
• Loma Linda Cardiology Grand Rounds. 
• Loma Linda Medicine Grand Rounds. 
• UCLA Pediatric Grand Rounds. 
• CHLA Endocrinology Grand Rounds. 
• UCLA Cardiology Grand Rounds. 
• St. Vincent Hospital Nephrology Grand Rounds. 
• University of Debrecen, Hungary. 
• University of Debrecen, Hungary. 
• LSD Registries meeting. 
  Washington D.C
• 2nd Short Course on Genetics and IEM. 
  Kuala Lumpur.
• Visiting Professor and invited lectures. 
  Siriraj Hospital, Bangkok, Thailand
• Harbor-UCLA Nephrology Grand Rounds. 
• Los Angeles Neurologic Society. 
• Stroke meeting. 
  Sydney, Australia
• Melbourne genetics group. 
  Australia
• Los Angeles MediCal office. 
• Cottage Hospital. 
  Santa Barbara, Neurology Grand Rounds
• Visiting professor. 
  Rostock, Germany; Porto, Portugal, London, England; Prague, Czech Republic
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