William Wilcox, MD, PhD

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Role

Clinical Genetics
Research Program

Cell and Molecular Biology
Practicing Since

1994

Call 404-778-8570

Background

William Wilcox, MD is a clinical, biochemical, and molecular geneticist in the Division of Medical Genetics. He specializes in the diagnosis and treatment of metabolic disorders and genetic disorders of the skeleton, particularly dwarfisms and limb deficiency disorders.

He trained in Pediatrics at UCLA and then Medical Genetics in the UCLA Intercampus Medical Genetics Training Program. After training, he joined the UCLA Pediatrics faculty within the Medical Genetics Institute at Cedars-Sinai Medical Center until joining Emory in 2014.

His areas of research focus are:

Clinical trials of therapies for genetic disorders, particularly lysosomal storage diseases and dwarfism
Newborn screening pilot studies for genetic disorders
The genetic basis and pathophysiology of genetic disorders of the skeleton, particularly skeletal dysplasias and limb deficiency disorders."

Titles & Roles

Professor, Department of Human Genetics

Emory University School of Medicine

Education & Training

Education

Fellowship, Medical Genetics, 1994
UCLA Intercampus Medical Genetics Training Program
Residency, Pediatrics, 1991
UCLA
Medical Education, DMS, 1988
UCLA

Board Certifications

Clinical Biochemical Genetics
American Board of Medical Genetics and Genomics, 1996
Clinical Molecular Genetics
American Board of Medical Genetics and Genomics, 1996
Clinical Genetics (MD)
American Board of Medical Genetics and Genomics, 1993

Research

Publications

Title/Journal	Authors	Publication Date
Sustained growth-promoting effects of vosoritide in children with achondroplasia from an ongoing phase 3 extension study. Med (New York, N.Y.)	R Savarirayan, M Irving, WR Wilcox, CA Bacino, JE Hoover-Fong, P Harmatz, LE Polgreen, K Palm, CE Prada, T Kubota, P Arundel, Y Kotani, A Leiva-Gea, MB Bober, JT Hecht, JM Legare, S Lawrinson, A Low, I Sabir, A Huntsman-Labed, JRS Day	05/09/2025
Safety and efficacy of migalastat in adolescent patients with Fabry disease: Results from ASPIRE, a phase 3b, open-label, single-arm, 12-month clinical trial, and its open-label extension. Molecular genetics and metabolism	U Ramaswami, E Font-Montgomery, O Goker-Alpan, D Ortiz, A Sanchez-Valle, CB Whitley, WR Wilcox, H Jiang, LA Lawson, J Vosk, H Yang, RJ Hopkin	05/01/2025
Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in medicine : official journal of the American College of Medical Genetics	AR Stiles, TR Donti, PL Hall, WR Wilcox	01/01/2025
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies. Journal of inherited metabolic disease	M Holida, A Linhart, A Pisani, N Longo, F Eyskens, O Goker-Alpan, E Wallace, P Deegan, C Tøndel, U Feldt-Rasmussen, D Hughes, A Sakov, R Rocco, EB Almon, S Alon, R Chertkoff, DG Warnock, S Waldek, WR Wilcox, JA Bernat	01/01/2025
Persistent growth-promoting effects of vosoritide in children with achondroplasia are accompanied by improvements in physical and social aspects of health-related quality of life. Genetics in medicine : official journal of the American College of Medical Genetics	R Savarirayan, M Irving, WR Wilcox, CA Bacino, JE Hoover-Fong, P Harmatz, LE Polgreen, K Mohnike, CE Prada, T Kubota, P Arundel, A Leiva-Gea, R Rowell, A Low, I Sabir, A Huntsman-Labed, J Day	12/01/2024
Head-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised phase III BALANCE study. Journal of medical genetics	EL Wallace, O Goker-Alpan, WR Wilcox, M Holida, J Bernat, N Longo, A Linhart, DA Hughes, RJ Hopkin, C Tøndel, M Langeveld, P Giraldo, A Pisani, DP Germain, A Mehta, PB Deegan, MJ Molnar, D Ortiz, A Jovanovic, M Muriello, BA Barshop, V Kimonis, B Vujkovac, A Nowak, T Geberhiwot, I Kantola, J Knoll, S Waldek, K Nedd, A Karaa, E Brill-Almon, S Alon, R Chertkoff, R Rocco, A Sakov, DG Warnock	05/21/2024
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model. Clinical pharmacokinetics	Y Qi, ML Chan, DR Mould, K Larimore, E Fisheleva, A Cherukuri, J Day, R Savarirayan, M Irving, CA Bacino, J Hoover-Fong, K Ozono, K Mohnike, WR Wilcox, MB Bober, J Henshaw	05/01/2024
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice. Advances in therapy	O Semler, V Cormier-Daire, E Lausch, MB Bober, R Carroll, SB Sousa, D Deyle, M Faden, G Hartmann, AJ Huser, JM Legare, K Mohnike, TR Rohrer, F Rutsch, P Smith, AM Travessa, A Verardo, KK White, WR Wilcox, J Hoover-Fong	01/01/2024
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial. The Lancet. Child & adolescent health	R Savarirayan, WR Wilcox, P Harmatz, J Phillips, LE Polgreen, L Tofts, K Ozono, P Arundel, M Irving, CA Bacino, D Basel, MB Bober, J Charrow, H Mochizuki, Y Kotani, HM Saal, C Army, G Jeha, Y Qi, L Han, E Fisheleva, A Huntsman-Labed, J Day	01/01/2024
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes. Journal of medical genetics	DA Hughes, DG Bichet, R Giugliani, RJ Hopkin, E Krusinska, K Nicholls, I Olivotto, U Feldt-Rasmussen, N Sakai, N Skuban, G Sunder-Plassmann, R Torra, WR Wilcox	07/01/2023
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 the Fabry community. Molecular genetics and metabolism	C Wanner, A Ortiz, WR Wilcox, RJ Hopkin, J Johnson, E Ponce, JT Ebels, JL Batista, M Maski, JM Politei, AM Martins, M Banikazemi, A Linhart, M Mauer, JP Oliveira, F Weidemann, DP Germain	07/01/2023
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry. Molecular genetics and metabolism	RJ Hopkin, GH Cabrera, JL Jefferies, M Yang, E Ponce, E Brand, U Feldt-Rasmussen, DP Germain, N Guffon, A Jovanovic, I Kantola, A Karaa, AM Martins, C Tøndel, WR Wilcox, HW Yoo, AP Burlina, M Mauer	02/01/2023
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study. Molecular genetics and metabolism	PB Deegan, O Goker-Alpan, T Geberhiwot, RJ Hopkin, E Lukina, A Tylki-Szymanska, A Zaher, C Sensinger, SJM Gaemers, V Modur, BL Thurberg, J Sharma, B Najafian, M Mauer, P DasMahapatra, WR Wilcox, DP Germain	02/01/2023
Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study. Genetics in medicine : official journal of the American College of Medical Genetics	R Savarirayan, M Irving, P Harmatz, B Delgado, WR Wilcox, J Philips, N Owen, CA Bacino, L Tofts, J Charrow, LE Polgreen, J Hoover-Fong, P Arundel, I Ginebreda, HM Saal, D Basel, RU Font, K Ozono, MB Bober, V Cormier-Daire, KH Le Quan Sang, G Baujat, Y Alanay, F Rutsch, D Hoernschemeyer, K Mohnike, H Mochizuki, A Tajima, Y Kotani, DD Weaver, KK White, C Army, K Larrimore, K Gregg, G Jeha, C Milligan, E Fisheleva, A Huntsman-Labed, J Day	12/01/2022
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes. American journal of medical genetics. Part C, Seminars in medical genetics	K Elkins, A Wittenauer, AF Hagar, R Logan, E Sekul, Y Xiang, S Verma, WR Wilcox	06/01/2022
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools. American journal of medical genetics. Part C, Seminars in medical genetics	PL Hall, AL Wittenauer, WR Wilcox	06/01/2022
Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in medicine : official journal of the American College of Medical Genetics	AL Ritter, J Gold, H Hayashi, AM Ackermann, S Hanke, C Skraban, S Cuddapah, E Bhoj, D Li, Y Kuroda, J Wen, R Takeda, A Bibb, S El Chehadeh, A Piton, J Ohl, MK Kukolich, K Nagasaki, K Kato, T Ogi, T Bhatti, P Russo, B Krock, JR Murrell, JA Sullivan, V Shashi, N Stong, H Hakonarson, K Sawano, E Torti, R Willaert, Y Si, WR Wilcox, KV Wirgenes, K Thomassen, K Carlotti, A Erwin, J Lazier, T Marquardt, M He, AC Edmondson, K Izumi	06/01/2022
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia. Clinical pharmacokinetics	ML Chan, Y Qi, K Larimore, A Cherukuri, L Seid, K Jayaram, G Jeha, E Fisheleva, J Day, A Huntsman-Labed, R Savarirayan, M Irving, CA Bacino, J Hoover-Fong, K Ozono, K Mohnike, WR Wilcox, WA Horton, J Henshaw	02/01/2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One). Frontiers in genetics	A Brower, K Chan, M Williams, S Berry, R Currier, P Rinaldo, M Caggana, A Gaviglio, W Wilcox, R Steiner, IA Holm, J Taylor, JJ Orsini, L Brunelli, J Adelberg, O Bodamer, S Viall, C Scharfe, M Wasserstein, JY Chen, M Escolar, A Goldenberg, K Swoboda, C Ficicioglu, D Matern, R Lee, M Watson	01/01/2022
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study. Genetics in medicine : official journal of the American College of Medical Genetics	R Savarirayan, L Tofts, M Irving, WR Wilcox, CA Bacino, J Hoover-Fong, RU Font, P Harmatz, F Rutsch, MB Bober, LE Polgreen, I Ginebreda, K Mohnike, J Charrow, D Hoernschemeyer, K Ozono, Y Alanay, P Arundel, Y Kotani, N Yasui, KK White, HM Saal, A Leiva-Gea, F Luna-González, H Mochizuki, D Basel, DM Porco, K Jayaram, E Fisheleva, A Huntsman-Labed, JRS Day	12/01/2021
The emerging neurological spectrum of AARS2-associated disorders. Parkinsonism & related disorders	SP Parra, SH Heckers, WR Wilcox, CD Mcknight, HA Jinnah	12/01/2021
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease. Molecular genetics and metabolism	L Davids, Y Sun, RH Moore, E Lisi, A Wittenauer, WR Wilcox, N Ali	01/01/2021
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience. Clinical kidney journal	DA Laney, DP Germain, JP Oliveira, AP Burlina, GH Cabrera, GR Hong, RJ Hopkin, DM Niu, M Thomas, H Trimarchi, WR Wilcox, JM Politei, A Ortiz	12/01/2020
Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. Molecular genetics and metabolism reports	RJ Hopkin, U Feldt-Rasmussen, DP Germain, A Jovanovic, AM Martins, K Nicholls, A Ortiz, J Politei, E Ponce, C Varas, F Weidemann, M Yang, WR Wilcox	12/01/2020
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns. International journal of neonatal screening	PL Hall, H Li, AF Hagar, SC Jerris, A Wittenauer, W Wilcox	10/23/2020
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial. Lancet (London, England)	R Savarirayan, L Tofts, M Irving, W Wilcox, CA Bacino, J Hoover-Fong, R Ullot Font, P Harmatz, F Rutsch, MB Bober, LE Polgreen, I Ginebreda, K Mohnike, J Charrow, D Hoernschemeyer, K Ozono, Y Alanay, P Arundel, S Kagami, N Yasui, KK White, HM Saal, A Leiva-Gea, F Luna-González, H Mochizuki, D Basel, DM Porco, K Jayaram, E Fisheleva, A Huntsman-Labed, J Day	09/05/2020
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup. Journal of medical genetics	DP Germain, JP Oliveira, DG Bichet, HW Yoo, RJ Hopkin, R Lemay, J Politei, C Wanner, WR Wilcox, DG Warnock	08/01/2020
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction. International journal of neonatal screening	PL Hall, R Sanchez, AF Hagar, SC Jerris, A Wittenauer, WR Wilcox	03/01/2020
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases. Human mutation	J Li, J Zhang, W Tang, RK Mizu, H Kusumoto, W XiangWei, Y Xu, W Chen, JB Amin, C Hu, V Kannan, SR Keller, WR Wilcox, JR Lemke, SJ Myers, SA Swanger, LP Wollmuth, S Petrovski, SF Traynelis, H Yuan	12/01/2019
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study. The Journal of pediatrics	MP Whyte, E Leung, WR Wilcox, J Liese, J Argente, GÁ Martos-Moreno, A Reeves, KP Fujita, S Moseley, C Hofmann	06/01/2019
Fabry disease revisited: Management and treatment recommendations for adult patients. Molecular genetics and metabolism	A Ortiz, DP Germain, RJ Desnick, J Politei, M Mauer, A Burlina, C Eng, RJ Hopkin, D Laney, A Linhart, S Waldek, E Wallace, F Weidemann, WR Wilcox	04/01/2018
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry. JIMD reports	WR Wilcox, U Feldt-Rasmussen, AM Martins, A Ortiz, RM Lemay, A Jovanovic, DP Germain, C Varas, K Nicholls, F Weidemann, RJ Hopkin	01/01/2018
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California. Molecular genetics and metabolism	NM Gallant, K Leydiker, Y Wilnai, C Lee, F Lorey, L Feuchtbaum, H Tang, J Carter, GM Enns, S Packman, HJ Lin, WR Wilcox, SD Cederbaum, JE Abdenur	11/01/2017
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in medicine : official journal of the American College of Medical Genetics	ER Benjamin, MC Della Valle, X Wu, E Katz, F Pruthi, S Bond, B Bronfin, H Williams, J Yu, DG Bichet, DP Germain, R Giugliani, D Hughes, R Schiffmann, WR Wilcox, RJ Desnick, J Kirk, J Barth, C Barlow, KJ Valenzano, J Castelli, DJ Lockhart	04/01/2017
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study. Journal of medical genetics	DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, K Nedd, G Vockley, T Hamazaki, R Lachmann, T Ohashi, I Olivotto, N Sakai, P Deegan, D Dimmock, F Eyskens, DP Germain, O Goker-Alpan, E Hachulla, A Jovanovic, CM Lourenco, I Narita, M Thomas, WR Wilcox, DG Bichet, R Schiffmann, E Ludington, C Viereck, J Kirk, J Yu, F Johnson, P Boudes, ER Benjamin, DJ Lockhart, C Barlow, N Skuban, JP Castelli, J Barth, U Feldt-Rasmussen	04/01/2017
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges. American journal of medical genetics. Part A	D Krakow, DH Cohn, WR Wilcox, GJ Noh, LJ Raffel, A Sarukhanov, MH Ivanova, M Danielpour, DK Grange, AM Elliott, JA Bernstein, DL Rimoin, AE Merrill, RS Lachman	10/01/2016
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. Molecular genetics and metabolism	RJ Hopkin, G Cabrera, J Charrow, R Lemay, AM Martins, M Mauer, A Ortiz, MR Patel, K Sims, S Waldek, DG Warnock, WR Wilcox	09/01/2016
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat. The New England journal of medicine	DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, C Feliciani, SP Shankar, F Ezgu, H Amartino, D Bratkovic, U Feldt-Rasmussen, K Nedd, U Sharaf El Din, CM Lourenco, M Banikazemi, J Charrow, M Dasouki, D Finegold, P Giraldo, O Goker-Alpan, N Longo, CR Scott, R Torra, A Tuffaha, A Jovanovic, S Waldek, S Packman, E Ludington, C Viereck, J Kirk, J Yu, ER Benjamin, F Johnson, DJ Lockhart, N Skuban, J Castelli, J Barth, C Barlow, R Schiffmann	08/11/2016
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. Circulation. Cardiovascular genetics	Y Xue, B Schoser, AR Rao, R Quadrelli, A Vaglio, V Rupp, C Beichler, SF Nelson, G Schapacher-Tilp, C Windpassinger, WR Wilcox	04/01/2016
Changing paradigm of cancer therapy: precision medicine by next-generation sequencing. Cancer biology & medicine	Y Xue, WR Wilcox	03/01/2016
Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer biology & medicine	C Stanislaw, Y Xue, WR Wilcox	03/01/2016
The management and treatment of children with Fabry disease: A United States-based perspective. Molecular genetics and metabolism	RJ Hopkin, JL Jefferies, DA Laney, VH Lawson, M Mauer, MR Taylor, WR Wilcox	02/01/2016
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy. Journal of medical genetics	DG Warnock, CP Thomas, B Vujkovac, RC Campbell, J Charrow, DA Laney, LL Jackson, WR Wilcox, C Wanner	12/01/2015
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). American journal of medical genetics. Part A	H Lee, L Nevarez, RS Lachman, WR Wilcox, D Krakow, DH Cohn	10/01/2015
Response to Saul. Genetics in medicine : official journal of the American College of Medical Genetics	Y Xue, A Ankala, WR Wilcox, MR Hegde	09/01/2015
Congenital limb deficiency disorders. Clinics in perinatology	WR Wilcox, CP Coulter, ML Schmitz	06/01/2015
Fabry disease in infancy and early childhood: a systematic literature review. Genetics in medicine : official journal of the American College of Medical Genetics	DA Laney, DS Peck, AM Atherton, LP Manwaring, KM Christensen, SP Shankar, DK Grange, WR Wilcox, RJ Hopkin	05/01/2015
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of medical genetics	DP Germain, J Charrow, RJ Desnick, N Guffon, J Kempf, RH Lachmann, R Lemay, GE Linthorst, S Packman, CR Scott, S Waldek, DG Warnock, NJ Weinreb, WR Wilcox	05/01/2015
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism. The Journal of pharmacology and experimental therapeutics	DJ Wendt, M Dvorak-Ewell, S Bullens, F Lorget, SM Bell, J Peng, S Castillo, M Aoyagi-Scharber, CA O'Neill, P Krejci, WR Wilcox, DL Rimoin, S Bunting	04/01/2015
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Molecular genetics & genomic medicine	Y Xue, A Sun, PB Mekikian, J Martin, DL Rimoin, RS Lachman, WR Wilcox	11/01/2014
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form. Human mutation	JE VanderMeer, R Lozano, M Sun, Y Xue, D Daentl, EW Jabs, WR Wilcox, N Ahituv	08/01/2014
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome. Clinical genetics	F Ezgu, P Krejci, S Li, C de Sousa, JM Graham, I Hansmann, W He, K Porpora, D Wand, W Wertelecki, A Schneider, WR Wilcox	07/01/2014
Fibroblast growth factor receptor 3 interacts with and activates TGFβ-activated kinase 1 tyrosine phosphorylation and NFκB signaling in multiple myeloma and bladder cancer. PloS one	L Salazar, T Kashiwada, P Krejci, AN Meyer, M Casale, M Hallowell, WR Wilcox, DJ Donoghue, LM Thompson	01/01/2014
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia. American journal of medical genetics. Part A	AL Pimienta, WR Wilcox, E Reinstein	12/01/2013
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. Gene	F Ezgu, P Krejci, WR Wilcox	07/25/2013
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. American journal of human genetics	AE Merrill, A Sarukhanov, P Krejci, B Idoni, N Camacho, KD Estrada, KM Lyons, H Deixler, H Robinson, D Chitayat, CJ Curry, RS Lachman, WR Wilcox, D Krakow	03/09/2012
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry. Molecular genetics and metabolism	WR Wilcox, GE Linthorst, DP Germain, U Feldt-Rasmussen, S Waldek, SM Richards, D Beitner-Johnson, M Cizmarik, JA Cole, W Kingma, DG Warnock	03/01/2012
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. Human mutation	S Foldynova-Trantirkova, WR Wilcox, P Krejci	01/01/2012
Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation. PloS one	P Krejci, A Aklian, M Kaucka, E Sevcikova, J Prochazkova, JK Masek, P Mikolka, T Pospisilova, T Spoustova, M Weis, WA Paznekas, JH Wolf, JS Gutkind, WR Wilcox, A Kozubik, EW Jabs, V Bryja, L Salazar, I Vesela, L Balek	01/01/2012
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals. Genetics in medicine : official journal of the American College of Medical Genetics	RY Wang, OA Bodamer, MS Watson, WR Wilcox	05/01/2011
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree. American journal of medical genetics. Part A	E Reinstein, RY Wang, L Zhan, DL Rimoin, WR Wilcox	04/01/2011
Mitogen-activated protein kinases promote WNT/beta-catenin signaling via phosphorylation of LRP6. Molecular and cellular biology	I Červenka, J Wolf, J Mašek, P Krejci, WR Wilcox, A Kozubík, G Schulte, JS Gutkind, V Bryja	01/01/2011
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. American journal of human genetics	SW Tompson, CA Bacino, NP Safina, MB Bober, VK Proud, T Funari, MF Wangler, L Nevarez, L Ala-Kokko, WR Wilcox, DR Eyre, D Krakow, DH Cohn	11/12/2010
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing. American journal of human genetics	VA Funari, D Krakow, L Nevarez, Z Chen, TL Funari, N Vatanavicharn, WR Wilcox, DL Rimoin, SF Nelson, DH Cohn	10/08/2010
NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells. The Journal of biological chemistry	P Krejci, S Murakami, J Prochazkova, L Trantirek, K Chlebova, Z Ouyang, A Aklian, J Smutny, V Bryja, A Kozubik, WR Wilcox	07/02/2010
FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence. Bone	P Krejci, J Prochazkova, J Smutny, K Chlebova, P Lin, A Aklian, V Bryja, A Kozubik, WR Wilcox	07/01/2010
Medical foods: inborn errors of metabolism and the reimbursement dilemma. Genetics in medicine : official journal of the American College of Medical Genetics	MA Weaver, A Johnson, RH Singh, WR Wilcox, MA Lloyd-Puryear, MS Watson	06/01/2010
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity. European heart journal	JC Wu, CY Ho, H Skali, R Abichandani, WR Wilcox, M Banikazemi, S Packman, K Sims, SD Solomon	05/01/2010
Molecular pathology of the fibroblast growth factor family. Human mutation	P Krejci, J Prochazkova, V Bryja, A Kozubik, WR Wilcox	09/01/2009
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association	R Schiffmann, DG Warnock, M Banikazemi, J Bultas, GE Linthorst, S Packman, SA Sorensen, WR Wilcox, RJ Desnick	07/01/2009
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. Human molecular genetics	L Salazar, T Kashiwada, P Krejci, P Muchowski, D Donoghue, WR Wilcox, LM Thompson	06/01/2009
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. Molecular genetics and metabolism	CB Whitley, JA Barranger, CM Eng, BL Davidson, GA Grabowski, B Kohler, J Muenzer, GJ Murray, GM Pastores, SK Patel, EG Shapiro, RD Steiner, SU Walkley, BA Wedehase, WR Wilcox	02/01/2009
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway. Human molecular genetics	T Matsushita, WR Wilcox, YY Chan, A Kawanami, H Bükülmez, G Balmes, P Krejci, PB Mekikian, K Otani, I Yamaura, ML Warman, D Givol, S Murakami	01/15/2009
High molecular weight FGF2: the biology of a nuclear growth factor. Cellular and molecular life sciences : CMLS	K Chlebova, V Bryja, P Dvorak, A Kozubik, WR Wilcox, P Krejci	01/01/2009
Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes. Cellular signalling	P Krejci, J Prochazkova, V Bryja, P Jelinkova, K Pejchalova, A Kozubik, LM Thompson, WR Wilcox	01/01/2009
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage. Journal of inherited metabolic disease	RY Wang, JT Abe, AH Cohen, WR Wilcox	12/01/2008
Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report. Journal of inherited metabolic disease	N Vatanavicharn, BD Pressman, WR Wilcox	12/01/2008
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Nature genetics	HC Hennies, U Kornak, H Zhang, J Egerer, X Zhang, W Seifert, J Kühnisch, B Budde, M Nätebus, F Brancati, WR Wilcox, D Müller, PB Kaplan, A Rajab, G Zampino, V Fodale, B Dallapiccola, W Newman, K Metcalfe, J Clayton-Smith, M Tassabehji, B Steinmann, FA Barr, P Nürnberg, P Wieacker, S Mundlos	12/01/2008
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatric research	RJ Hopkin, J Bissler, M Banikazemi, L Clarke, CM Eng, DP Germain, R Lemay, A Tylki-Szymanska, WR Wilcox	11/01/2008
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. American journal of medical genetics. Part A	D Krakow, Y Alanay, LP Rimoin, V Lin, WR Wilcox, RS Lachman, DL Rimoin	08/01/2008
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nature genetics	MJ Rock, J Prenen, VA Funari, TL Funari, B Merriman, SF Nelson, RS Lachman, WR Wilcox, S Reyno, R Quadrelli, A Vaglio, G Owsianik, A Janssens, T Voets, S Ikegawa, T Nagai, DL Rimoin, B Nilius, DH Cohn	08/01/2008
STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes. Journal of cell science	P Krejci, L Salazar, HS Goodridge, TA Kashiwada, MJ Schibler, P Jelinkova, LM Thompson, WR Wilcox	02/01/2008
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Molecular genetics and metabolism	WR Wilcox, JP Oliveira, RJ Hopkin, A Ortiz, M Banikazemi, U Feldt-Rasmussen, K Sims, S Waldek, GM Pastores, P Lee, CM Eng, L Marodi, KE Stanford, F Breunig, C Wanner, DG Warnock, RM Lemay, DP Germain	02/01/2008
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. PloS one	P Krejci, L Salazar, TA Kashiwada, K Chlebova, A Salasova, LM Thompson, V Bryja, A Kozubik, WR Wilcox	01/01/2008
Camurati-Engelmann Disease GeneReviews^®	MP Adam, J Feldman, GM Mirzaa, RA Pagon, SE Wallace, A Amemiya, SE Wallace, WR Wilcox	01/01/1993

Awards

Atlanta Magazine "Top Doctors" 2015-2018
John M. Adams award for excellence in Pediatrics, 1988
UCLA Alumni Scholar, 1977-1982
Phi Beta Kappa, 1982
Ramsey award for undergraduate research in physical chemistry, 1982

Ratings & Reviews

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4.6	One star One star One star One star One half star	Provider showed concern
4.6	One star One star One star One star One half star	Provider explained things clearly
4.5	One star One star One star One star One half star	Provider discussed treatment options
4.6	One star One star One star One star One half star	Provider included you in decisions
4.6	One star One star One star One star One half star	Likelihood of recommending this provider

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One star One star One star One star One star	12/12/2024	I understood things a lot more better
One star One star One star One star One star	10/24/2024	Dr. Wilcox listens very well and makes every effort to help me anyway he can ! I really do care about my doctors and he is a great doctor ! I highly recommend him to patients !
One star One star One star One star One star	10/04/2024	We will receive a kit in the mail. I thought more than a consultation would happen. Why could check (prick) his finger there and get blood to test?
One star One star One star One star One star	08/20/2024	Dr. Wilcox and team were amazing. Very knowledgeable understanding and inclusive
One star One star One star One star One star	08/17/2024	Dr. Wilcox and team were patient with my baby. Very informative visit. I felt like all concerns were addressed in detail which was very appreciated. Excellent team!
One star One star One star One star One star	06/25/2024	Dr. Wilcox and Dawn are amazing. I had a lot going on and they both made sure to listen, plan and explain.