William Wilcox
- Department of Human Genetics
Professor
-
615 Michael Street
Suite 305H
Atlanta, GA 30322
Overview
I am a clinical, biochemical, and molecular geneticist in the Division of Medical Genetics. I specialize in the diagnosis and treatment of metabolic disorders and genetic disorders of the skeleton, particularly dwarfisms and limb deficiency disorders.
I trained in Pediatrics at UCLA and then Medical Genetics in the UCLA Intercampus Medical Genetics Training Program. After training, I was a member of the UCLA Pediatrics faculty based in the Medical Genetics Institute at Cedars-Sinai Medical Center until I relocated to Emory in 2014.
My research focuses on three different areas:
-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.
Areas of Specialization
-Clinical Genetics
-Biochemical Genetics
-Lysosomal storage diseases
-Skeletal dysplasias
Limb deficiency disorders
Board Certifications
-American Board of Medical Genetics- Clinical, Clinical Biochemical, and Clinical Molecular Genetics
Professional Memberships
I am a member of the American College of Medical Genetics and will be serving on the Board of Directors starting in 2025. I am a member of the Fabry Registry board of advisors.
Honors and Awards
-UCLA Alumni Scholar, 1977-1982
-Phi Beta Kappa, 1982
-Ramsey Award for undergraduate research in physical chemistry, 1982
-John M. Adams award for excellence in Pediatrics, 1988
Academic Appointment
- Professor, Human Genetics, Emory University
Education
Degrees
- PhD from University of California Los Angeles
- MD from University of California Los Angeles
Research
Publications
-
A phase III, open-label clinical trial evaluating pegunigalsidase alfa administered every 4weeks in adults with Fabry disease previously treated with other enzyme replacement therapies.
J Inherit Metab Dis Volume: 48 Page(s): e12795
01/01/2025 Authors: Holida M; Linhart A; Pisani A; Longo N; Eyskens F; Goker-Alpan O; Wallace E; Deegan P; Tndel C; Feldt-Rasmussen U -
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.
Genet Med Volume: 26 Page(s): 101274
12/01/2024 Authors: Savarirayan R; Irving M; Wilcox WR; Bacino CA; Hoover-Fong JE; Harmatz P; Polgreen LE; Mohnike K; Prada CE; Kubota T -
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.
J Med Genet Volume: 61 Page(s): 520 - 530
05/21/2024 Authors: Wallace EL; Goker-Alpan O; Wilcox WR; Holida M; Bernat J; Longo N; Linhart A; Hughes DA; Hopkin RJ; Tndel C -
Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model.
Clin Pharmacokinet Volume: 63 Page(s): 707 - 719
05/01/2024 Authors: Qi Y; Chan ML; Mould DR; Larimore K; Fisheleva E; Cherukuri A; Day J; Savarirayan R; Irving M; Bacino CA -
Vosoritide therapy in children with achondroplasia aged 3-59 months: a multinational, randomised, double-blind, placebo-controlled, phase 2 trial.
Lancet Child Adolesc Health Volume: 8 Page(s): 40 - 50
01/01/2024 Authors: Savarirayan R; Wilcox WR; Harmatz P; Phillips J; Polgreen LE; Tofts L; Ozono K; Arundel P; Irving M; Bacino CA -
Vosoritide Therapy in Children with Achondroplasia: Early Experience and Practical Considerations for Clinical Practice.
Adv Ther Volume: 41 Page(s): 198 - 214
01/01/2024 Authors: Semler O; Cormier-Daire V; Lausch E; Bober MB; Carroll R; Sousa SB; Deyle D; Faden M; Hartmann G; Huser AJ -
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet Volume: 60 Page(s): 722 - 731
07/01/2023 Authors: Hughes DA; Bichet DG; Giugliani R; Hopkin RJ; Krusinska E; Nicholls K; Olivotto I; Feldt-Rasmussen U; Sakai N; Skuban N -
Global reach of over 20years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community.
Mol Genet Metab Volume: 139 Page(s): 107603
07/01/2023 Authors: Wanner C; Ortiz A; Wilcox WR; Hopkin RJ; Johnson J; Ponce E; Ebels JT; Batista JL; Maski M; Politei JM -
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab Volume: 138 Page(s): 106963
02/01/2023 Authors: Deegan PB; Goker-Alpan O; Geberhiwot T; Hopkin RJ; Lukina E; Tylki-Szymanska A; Zaher A; Sensinger C; Gaemers SJM; Modur V -
Clinical outcomes among young patients with Fabry disease who initiated agalsidase beta treatment before 30 years of age: An analysis from the Fabry Registry.
Mol Genet Metab Volume: 138 Page(s): 106967
02/01/2023 Authors: Hopkin RJ; Cabrera GH; Jefferies JL; Yang M; Ponce E; Brand E; Feldt-Rasmussen U; Germain DP; Guffon N; Jovanovic A -
Growth parameters in children with achondroplasia: A7-year, prospective, multinational, observational study.
Genet Med Volume: 24 Page(s): 2444 - 2452
12/01/2022 Authors: Savarirayan R; Irving M; Harmatz P; Delgado B; Wilcox WR; Philips J; Owen N; Bacino CA; Tofts L; Charrow J -
Preliminary results of STAAR, a Phase I/II study of isaralgagene civaparvovec (ST-920) gene therapy in adults with Fabry disease and long-term follow-up
Volume: 33 Page(s): A9 - A10
12/01/2022 Authors: Deegan P; Ganesh J; Goker-Alpan O; Hopkin R; Bernat J; Wilcox W; Cao L; Chen M; Shiue L; Bowden E -
Vosoritide for Children with Achondroplasia: Growth Velocity and Pubertal Milestones
Volume: 95 Page(s): 138 - 140
07/01/2022 Authors: Polgreen LE; Irving M; Hoover-Fong J; Bacino CA; Charrow J; Cormier-Daire V; Harmatz P; Dickson P; Bober MB; Mohnike K -
Expanding the phenotypic spectrum of ARCN1-related syndrome.
Genet Med Volume: 24 Page(s): 1227 - 1237
06/01/2022 Authors: Ritter AL; Gold J; Hayashi H; Ackermann AM; Hanke S; Skraban C; Cuddapah S; Bhoj E; Li D; Kuroda Y -
Proximal urea cycle defects are challenging to detect with newborn screening: Results of a prospective pilot study using post-analytical tools.
Am J Med Genet C Semin Med Genet Volume: 190 Page(s): 178 - 186
06/01/2022 Authors: Hall PL; Wittenauer AL; Wilcox WR -
Georgia state spinal muscular atrophy newborn screening experience: Screening assay performance and early clinical outcomes.
Am J Med Genet C Semin Med Genet Volume: 190 Page(s): 187 - 196
06/01/2022 Authors: Elkins K; Wittenauer A; Hagar AF; Logan R; Sekul E; Xiang Y; Verma S; Wilcox WR -
Vosoritide for children with achondroplasia: Growth velocity and pubertal milestones
Volume: 24 Page(s): S352 - S353
03/21/2022 Authors: Irving M; Hoover-Fong J; Bacino C; Charrow J; Cormier-Daire V; Polgreen L; Harmatz P; Dickson P; Bober M; Mohnike K -
An open-label, phase 1/2 trial of gene therapy 4D-310 in adult males with Fabry disease
Volume: 135 Page(s): S125 - S125
02/03/2022 Authors: Vockley J; Wilcox WR; Goker-Alpan O; Nie M; Shen J; Kirn D; Fishman RS; Schiffmann R -
Migalastat HCl 150 mg every other day is well-tolerated and efficacious in adolescent patients with Fabry disease
Volume: 135 Page(s): S104 - S104
02/03/2022 Authors: Ramaswami U; Wilcox W; Hopkin RJ; Yang H; Jiang H; Lengoce V -
Pharmacokinetics and Exposure-Response of Vosoritide in Children with Achondroplasia.
Clin Pharmacokinet Volume: 61 Page(s): 263 - 280
02/01/2022 Authors: Chan ML; Qi Y; Larimore K; Cherukuri A; Seid L; Jayaram K; Jeha G; Fisheleva E; Day J; Huntsman-Labed A -
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One).
Front Genet Volume: 13 Page(s): 867337
01/01/2022 Authors: Brower A; Chan K; Williams M; Berry S; Currier R; Rinaldo P; Caggana M; Gaviglio A; Wilcox W; Steiner R -
Safe and persistent growth-promoting effects of vosoritide in children with achondroplasia: 2-year results from an open-label, phase 3 extension study.
Genet Med Volume: 23 Page(s): 2443 - 2447
12/01/2021 Authors: Savarirayan R; Tofts L; Irving M; Wilcox WR; Bacino CA; Hoover-Fong J; Font RU; Harmatz P; Rutsch F; Bober MB -
The emerging neurological spectrum of AARS2-associated disorders.
Parkinsonism Relat Disord Volume: 93 Page(s): 50 - 54
12/01/2021 Authors: Parra SP; Heckers SH; Wilcox WR; Mcknight CD; Jinnah HA -
Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
Volume: 132 Page(s): S290 - S291
04/01/2021 Authors: Baker P; Ables H; Bedoyan J; Feldman G; Keegan C; Lichter-Konecki U; Longo N; McDonald M; Merideth M; Venditti C -
Fabry disease and COVID-19: International expert recommendations for management based on real-world experience
Volume: 132 Page(s): S62 - S62
02/01/2021 Authors: Laney DA; Germain DP; Oliveira JP; Burlina AP; Cabrera GH; Hong G-R; Hopkin RJ; Niu D-M; Thomas M; Trimarchi H -
Long-term treatment with migalastat 150 mg every other day is associated with sustained cardiac efficacy and is well tolerated
Volume: 132 Page(s): S38 - S38
02/01/2021 Authors: Feldt-Rasmussen U; Giugliani R; Hughes DA; Nicholls K; Olivotto I; Shankar S; Wilcox WR; Krusinska E; Skuban N -
Migalastat 150 mg every other day achieves bioequivalent exposures in adolescent and adult patients with Fabry disease
Volume: 132 Page(s): S90 - S90
02/01/2021 Authors: Ramaswami U; Leonowens C; Goker-Alpan O; Wilcox WR; Hopkin RJ; Sanchez-Valle A; Schmith V; Skuban N; Johnson F -
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Mol Genet Metab Volume: 134 Page(s): 20 - 28
01/01/2021 Authors: Davids L; Sun Y; Moore RH; Lisi E; Wittenauer A; Wilcox WR; Ali N -
Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.
Clin Kidney J Volume: 13 Page(s): 913 - 925
12/01/2020 Authors: Laney DA; Germain DP; Oliveira JP; Burlina AP; Cabrera GH; Hong G-R; Hopkin RJ; Niu D-M; Thomas M; Trimarchi H -
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.
Mol Genet Metab Rep Volume: 25 Page(s): 100670
12/01/2020 Authors: Hopkin RJ; Feldt-Rasmussen U; Germain DP; Jovanovic A; Martins AM; Nicholls K; Ortiz A; Politei J; Ponce E; Varas C -
A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Volume: 35 Page(s): 18 - 18
11/01/2020 Authors: Savarirayan R; Tofts L; Irving M; Wilcox W; Bacino C; Hoover-Fong J; Font RU; Harmatz P; Rutsch F; Bober M -
Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns.
Int J Neonatal Screen Volume: 6
10/23/2020 Authors: Hall PL; Li H; Hagar AF; Jerris SC; Wittenauer A; Wilcox W -
Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial.
Lancet Volume: 396 Page(s): 684 - 692
09/05/2020 Authors: Savarirayan R; Tofts L; Irving M; Wilcox W; Bacino CA; Hoover-Fong J; Ullot Font R; Harmatz P; Rutsch F; Bober MB -
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.
J Med Genet Volume: 57 Page(s): 542 - 551
08/01/2020 Authors: Germain DP; Oliveira JP; Bichet DG; Yoo H-W; Hopkin RJ; Lemay R; Politei J; Wanner C; Wilcox WR; Warnock DG -
A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Volume: 93 Page(s): 169 - 170
06/01/2020 Authors: Pogreen L; Savarirayan R; Tofts L; Rehab K; Irving M; Wilcox W; Bacino C; Hoover-Fong J; Ullot Font R; Harmatz P -
GLUCOSYLCERAMIDE SYNTHASE INHIBITION WITH VENGLUSTAT IN CLASSIC FABRY DISEASE PATIENTS LEADS TO PROGRESSIVE REDUCTION OF ENDOTHELIAL CELL GLOBOTRIAOSYLCERAMIDE INCLUSION VOLUME
Volume: 35 Page(s): 358 - 358
06/01/2020 Authors: Mauer M; Goker-Alpan O; Germain DP; Wilcox W; Hopkin RJ; Lukina E; Geberhiwot T; Deegan P; Tylki-Szymanska A; Sensinger C -
HISTORICAL CONTROL ANALYSIS DEMONSTRATES SUPERIOR REDUCTION OF PLASMA GLOBOTRIAOSYLCERAMIDE BY VENGLUSTAT COMPARED WITH PLACEBO OR AGALSIDASE BETA IN CLASSIC FABRY DISEASE PATIENTS
Volume: 35 Page(s): 135 - 135
06/01/2020 Authors: Germain DP; Wilcox W; Deegan P; Liu K; Hailman E; Ortiz A; Modur V -
GLUCOSYLCERAMIDE SYNTHASE INHIBITION WITH VENGLUSTAT IN CLASSIC FABRY DISEASE PATIENTS LEADS TO PROGRESSIVE REDUCTION OF ENDOTHELIAL CELL GLOBOTRIAOSYLCERAMIDE INCLUSION VOLUME
Volume: 35 Page(s): 358 - 358
06/01/2020 Authors: Mauer M; Goker-Alpan O; Germain DP; Wilcox W; Hopkin RJ; Lukina E; Geberhiwot T; Deegan P; Tylki-Szymanska A; Sensinger C -
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction.
Int J Neonatal Screen Volume: 6
03/01/2020 Authors: Hall PL; Sanchez R; Hagar AF; Jerris SC; Wittenauer A; Wilcox WR -
Improvement of Fabry disease-related gastrointestinal symptoms in significant proportions of classic male patients treated with agalsidase beta: A Fabry Registry analysis
Volume: 129 Page(s): S74 - S74
02/01/2020 Authors: Hopkin RJ; Yang M; Ponce E; Feldt-Rasmussen U; Germain DP; Jovanovic A; Martins AM; Nicholls K; Ortiz A; Varas C -
De novo GRIN variants in NMDA receptor M2 channel pore-forming loop are associated with neurological diseases.
Hum Mutat Volume: 40 Page(s): 2393 - 2413
12/01/2019 Authors: Li J; Zhang J; Tang W; Mizu RK; Kusumoto H; XiangWei W; Xu Y; Chen W; Amin JB; Hu C -
Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study.
J Pediatr Volume: 209 Page(s): 116 - 124.e4
06/01/2019 Authors: Whyte MP; Leung E; Wilcox WR; Liese J; Argente J; Martos-Moreno G; Reeves A; Fujita KP; Moseley S; Hofmann C -
Significant abdominal and acute pain improvements in young patients with Fabry disease initiated on agalsidase beta treatment before age 30: A Fabry registry analysis
Volume: 126 Page(s): S74 - S74
02/01/2019 Authors: Hopkin RJ; Cabrera GH; Jefferies JL; Brand E; Feldt-Rasmussen U; Germain DP; Guffon N; Jovanovic A; Kantola I; Karaa A -
Renal and cardiac outcomes of young male patients with Fabry disease initiated on agalsidase beta treatment before age 30: A Fabry registry analysis
Volume: 126 Page(s): S73 - S74
02/01/2019 Authors: Hopkin RJ; Cabrera GH; Jefferies JL; Brand E; Feldt-Rasmussen U; Germain DP; Guffon N; Jovanovic A; Kantola I; Karaa A -
EFFECTS OF LONG-TERM MIGALASTAT TREATMENT ON RENAL FUNCTION BY BASELINE PROTEINURIA IN PATIENTS (PTS) WITH FABRY DISEASE
Volume: 33 Page(s): 347 - 348
05/01/2018 Authors: Schiffmann R; Bichet D; Germain D; Giugliani R; Hughes D; Nicholls K; Wilcox W; Williams H; Yu J; Castelli J -
Fabry disease revisited: Management and treatment recommendations for adult patients.
Mol Genet Metab Volume: 123 Page(s): 416 - 427
04/01/2018 Authors: Ortiz A; Germain DP; Desnick RJ; Politei J; Mauer M; Burlina A; Eng C; Hopkin RJ; Laney D; Linhart A -
Planning, implementation, and initial results of newborn screening for Pompe disease and MPS I in Georgia
Volume: 123 Page(s): S47 - S47
02/01/2018 Authors: Foley A; Cagle S; Hagar A; Hall P; Laney D; Russo RS; Wittenauer A; Wilcox WR -
A survivor analysis for major clinical events in heterozygous female patients with Fabry disease using group consensus phenotype classifications from hemizygous male patients
Volume: 123 Page(s): S65 - S66
02/01/2018 Authors: Hopkin RJ; Germain DP; Bichet DG; Gruskin DJ; Lemay RM; Oliveira JP; Politei JM; Wanner C; Wilcox WR; Yoo H-W -
Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.
JIMD Rep Volume: 38 Page(s): 45 - 51
01/01/2018 Authors: Wilcox WR; Feldt-Rasmussen U; Martins AM; Ortiz A; Lemay RM; Jovanovic A; Germain DP; Varas C; Nicholls K; Weidemann F -
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Mol Genet Metab Volume: 122 Page(s): 76 - 84
11/01/2017 Authors: Gallant NM; Leydiker K; Wilnai Y; Lee C; Lorey F; Feuchtbaum L; Tang H; Carter J; Enns GM; Packman S -
CLASSIFICATION OF MALE FABRY PATIENTS: VALIDATION OF GROUP CONSENSUS BY SURVIVOR ANALYSIS FOR MAJOR CLINICAL EVENTS
Volume: 32 Page(s): 113 - 113
05/01/2017 Authors: Warnock D; Oliveira J; Bichet D; Yoo H-W; Gruskin D; Hopkin R; Lemay R; Politei J; Wanner C; Wilcox W -
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet Volume: 54 Page(s): 288 - 296
04/01/2017 Authors: Hughes DA; Nicholls K; Shankar SP; Sunder-Plassmann G; Koeller D; Nedd K; Vockley G; Hamazaki T; Lachmann R; Ohashi T -
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
Genet Med Volume: 19 Page(s): 430 - 438
04/01/2017 Authors: Benjamin ER; Della Valle MC; Wu X; Katz E; Pruthi F; Bond S; Bronfin B; Williams H; Yu J; Bichet DG -
Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study
Volume: 120 Page(s): S52 - S52
01/01/2017 Authors: Germain DP; Giugliani R; Bichet DG; Wilcox WR; Hughes DA; Amartino HM; Schiffmanng R; Viereck C; Skuban N; Castelli JP -
Burden of Fabry disease in young patients (<= 30 years of age) who were initiated on enzyme replacement therapy with agalsidase beta: a Fabry Registry analysis
Volume: 120 Page(s): S65 - S66
01/01/2017 Authors: Hopkin RJ; Brand E; Rasmussen UF; Germain DP; Guffon N; Jovanovic A; Kantola I; Karaa A; Lemay R; Martins AM -
Effects of treatment with migalastat on the combined endpoint of kidney globotriaosylcermide accumulation and diarrhea in patients with Fabry disease: results from the phase 3 FACETS study
Volume: 120 Page(s): S52 - S52
01/01/2017 Authors: Germain DP; Hughes DA; Bichet DG; Schiffmann R; Wilcox WR; Holdbrook F; Viereck C; Yu J; Skuban N; Castelli JP -
Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT
Volume: 120 Page(s): S45 - S46
01/01/2017 Authors: Feldt-Rasmussen U; Giugliani R; Germain DP; Hughes DA; Wilcox WR; Schiffmann R; Bichet DG; Jovanovic A; Bratkovic D; Castelli JP -
A Fabry genotype-phenotype working group initiative: classifying GM mutations for male patients in the Fabry Registry
Volume: 120 Page(s): S51 - S51
01/01/2017 Authors: Germain DP; Oliveira JP; Bichet DG; Yoo H-W; Gruskin DJ; Hopkin RJ; Lemay R; Politei J; Wanner C; Wilcox WR -
Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study
Volume: 120 Page(s): S119 - S119
01/01/2017 Authors: Schiffmann R; Bichet DG; Hughes DA; Giugliani R; Wilcox WR; Shankar SP; Germain DP; Viereck C; Castelli JP; Skuban N -
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
Am J Med Genet A Volume: 170 Page(s): 2652 - 2661
10/01/2016 Authors: Krakow D; Cohn DH; Wilcox WR; Noh GJ; Raffel LJ; Sarukhanov A; Ivanova MH; Danielpour M; Grange DK; Elliott AM -
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.
Mol Genet Metab Volume: 119 Page(s): 151 - 159
09/01/2016 Authors: Hopkin RJ; Cabrera G; Charrow J; Lemay R; Martins AM; Mauer M; Ortiz A; Patel MR; Sims K; Waldek S -
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med Volume: 375 Page(s): 545 - 555
08/11/2016 Authors: Germain DP; Hughes DA; Nicholls K; Bichet DG; Giugliani R; Wilcox WR; Feliciani C; Shankar SP; Ezgu F; Amartino H -
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.
Circ Cardiovasc Genet Volume: 9 Page(s): 130 - 135
04/01/2016 Authors: Xue Y; Schoser B; Rao AR; Quadrelli R; Vaglio A; Rupp V; Beichler C; Nelson SF; Schapacher-Tilp G; Windpassinger C -
Changing paradigm of cancer therapy: precision medicine by next-generation sequencing.
Cancer Biol Med Volume: 13 Page(s): 12 - 18
03/01/2016 Authors: Xue Y; Wilcox WR -
Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing.
Cancer Biol Med Volume: 13 Page(s): 55 - 67
03/01/2016 Authors: Stanislaw C; Xue Y; Wilcox WR -
The validation of pharmacogenetics in the identification of patients with Fabry disease for treatment with migalastat
Volume: 117 Page(s): S26 - S27
02/01/2016 Authors: Benjamin ER; Della Valle C; Wu X; Katz E; Valenzano KJ; Bichet DG; Germain D; Giugliani R; Hughes D; Schiffmann R -
Improvement of Fabry disease related gastrointestinal symptoms in a significant proportion of female patients treated with agalsidase beta
Volume: 117 Page(s): S57 - S58
02/01/2016 Authors: Hopkin R; Feldt-Rasmussen U; Martins AM; Ortiz A; Weidemann F; Lemay R; Wilcox WR -
Anti-proteinuric therapy and Fabry nephropathy; factors associated with preserved kidney function during agalsidase-beta therapy
Volume: 117 Page(s): S120 - S120
02/01/2016 Authors: Warnock DG; Thomas CP; Vujkovac B; Campbell RC; Charrow J; Laney DA; Jackson LL; Wilcox WR; Wanner C -
Phenotype of Fabry disease in patients with mutations amenable to migalastat
Volume: 117 Page(s): S58 - S59
02/01/2016 Authors: Hughes D; Bichet DG; Germain DP; Giugliani R; Schiffmann R; Wilcox W; Castelli JP; Benjamin E; Skuban N; Barth J -
The management and treatment of children with Fabry disease: A United States-based perspective.
Mol Genet Metab Volume: 117 Page(s): 104 - 113
02/01/2016 Authors: Hopkin RJ; Jefferies JL; Laney DA; Lawson VH; Mauer M; Taylor MR; Wilcox WR; Fabry Pediatric Expert Panel -
Antiproteinuric therapy and Fabry nephropathy: factors associated with preserved kidney function during agalsidase-beta therapy.
J Med Genet Volume: 52 Page(s): 860 - 866
12/01/2015 Authors: Warnock DG; Thomas CP; Vujkovac B; Campbell RC; Charrow J; Laney DA; Jackson LL; Wilcox WR; Wanner C -
A second locus for Schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1).
Am J Med Genet A Volume: 167A Page(s): 2470 - 2473
10/01/2015 Authors: Lee H; Nevarez L; Lachman RS; Wilcox WR; Krakow D; Cohn DH; University of Washington Center for Mendelian Genomics -
Response to Saul.
Genet Med Volume: 17 Page(s): 761
09/01/2015 Authors: Xue Y; Ankala A; Wilcox WR; Hegde MR -
Congenital limb deficiency disorders.
Clin Perinatol Volume: 42 Page(s): 281 - viii
06/01/2015 Authors: Wilcox WR; Coulter CP; Schmitz ML -
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing.
Genet Med Volume: 17 Page(s): 444 - 451
06/01/2015 Authors: Xue Y; Ankala A; Wilcox WR; Hegde MR -
Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.
J Med Genet Volume: 52 Page(s): 353 - 358
05/01/2015 Authors: Germain DP; Charrow J; Desnick RJ; Guffon N; Kempf J; Lachmann RH; Lemay R; Linthorst GE; Packman S; Scott CR -
Fabry disease in infancy and early childhood: a systematic literature review.
Genet Med Volume: 17 Page(s): 323 - 330
05/01/2015 Authors: Laney DA; Peck DS; Atherton AM; Manwaring LP; Christensen KM; Shankar SP; Grange DK; Wilcox WR; Hopkin RJ -
Neutral endopeptidase-resistant C-type natriuretic peptide variant represents a new therapeutic approach for treatment of fibroblast growth factor receptor 3-related dwarfism.
J Pharmacol Exp Ther Volume: 353 Page(s): 132 - 149
04/01/2015 Authors: Wendt DJ; Dvorak-Ewell M; Bullens S; Lorget F; Bell SM; Peng J; Castillo S; Aoyagi-Scharber M; O'Neill CA; Krejci P -
Long-term efficacy and safety of migalastat compared to enzyme replacement therapy in Fabry disease: Phase 3 study results
Volume: 114 Page(s): S57 - S57
02/01/2015 Authors: Hughes D; Bichet DG; Giugliani R; Schiffmann R; Wilcox WR; Benjamin E; Castelli JP; Kirk J; Rutecki J; Skuban N -
A 10-year study documenting the long-term effectiveness of agalsidase-beta treatment in 52 adult patients with classic Fabry disease
Volume: 114 Page(s): S45 - S46
02/01/2015 Authors: Germain DP; Charrow J; Desnick RJ; Guffon N; Kempf J; Lachmann RH; Lemay R; Linthorst GE; Packman S; Scott CR -
Accurate quantitation of plasma globotriaosylsphingosine (lyso-Gb(3)) in normal individuals and Fabry disease patients by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
Volume: 114 Page(s): S51 - S51
02/01/2015 Authors: Hamler R; Brignol N; Boyd RE; Bichet DG; Germain DP; Giugliani R; Hughes DA; Schiffmann R; Wilcox WR; Williams HN -
Risk factors for severe clinical events and the incidence of these events in male and female patients with Fabry disease treated with agalsidase beta
Volume: 114 Page(s): S55 - S55
02/01/2015 Authors: Hopkin RJ; Cabrera G; Charrow J; Lemay R; Martins AM; Mauer M; Ortiz A; Patel MR; Sims K; Waldek S -
Improvement in gastrointestinal symptoms observed in the phase 3 FACETS (AT1001-011) study of migalastat in patients affected with Fabry disease
Volume: 114 Page(s): S103 - S104
02/01/2015 Authors: Schiffmann R; Bichet DG; Germain DP; Giugliani R; Hughes DA; Wilcox W; Castelli JP; Kirk J; Skuban N; Yu J -
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry.
Mol Genet Genomic Med Volume: 2 Page(s): 497 - 503
11/01/2014 Authors: Xue Y; Sun A; Mekikian PB; Martin J; Rimoin DL; Lachman RS; Wilcox WR -
A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.
Hum Mutat Volume: 35 Page(s): 945 - 948
08/01/2014 Authors: VanderMeer JE; Lozano R; Sun M; Xue Y; Daentl D; Jabs EW; Wilcox WR; Ahituv N -
Phenotype-genotype correlations in patients with Marinesco-Sjgren syndrome.
Clin Genet Volume: 86 Page(s): 74 - 84
07/01/2014 Authors: Ezgu F; Krejci P; Li S; de Sousa C; Graham JM; Hansmann I; He W; Porpora K; Wand D; Wertelecki W -
Fibroblast growth factor receptor 3 interacts with and activates TGF-activated kinase 1 tyrosine phosphorylation and NFB signaling in multiple myeloma and bladder cancer.
PLoS One Volume: 9 Page(s): e86470
01/01/2014 Authors: Salazar L; Kashiwada T; Krejci P; Meyer AN; Casale M; Hallowell M; Wilcox WR; Donoghue DJ; Thompson LM -
More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia.
Am J Med Genet A Volume: 161A Page(s): 3126 - 3129
12/01/2013 Authors: Pimienta AL; Wilcox WR; Reinstein E -
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 Volume: 524 Page(s): 403 - 406
07/25/2013 Authors: Ezgu F; Krejci P; Wilcox WR -
Medical foods: inborn errors of metabolism and the reimbursement dilemma (vol 12, pg 364, 2010)
GENETICS IN MEDICINE Volume: 15 Page(s): 161 - 161
02/01/2013 Authors: Weaver MA; Johnson A; Singh RH; Wilcox WR; Lloyd-Puryear MA; Watson MS -
Clinical event status of patients with Fabry disease after long-term treatment with agalsidase beta and follow-up from The Fabry Registry
Volume: 108 Page(s): S42 - S42
02/01/2013 Authors: Germain DP; Linthorst GE; Wilcox WR; Weidemann F; Cizmarik M; Warnock DG -
A novel skeletal disorder defines an intracellular role for FGFR2 during development
Volume: 26
04/01/2012 Authors: Merrill AE; Sarukhanov A; Krejci P; Idoni B; Lachman R; Wilcox W; Krakow D -
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
Am J Hum Genet Volume: 90 Page(s): 550 - 557
03/09/2012 Authors: Merrill AE; Sarukhanov A; Krejci P; Idoni B; Camacho N; Estrada KD; Lyons KM; Deixler H; Robinson H; Chitayat D -
Anti--galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
Mol Genet Metab Volume: 105 Page(s): 443 - 449
03/01/2012 Authors: Wilcox WR; Linthorst GE; Germain DP; Feldt-Rasmussen U; Waldek S; Richards SM; Beitner-Johnson D; Cizmarik M; Cole JA; Kingma W -
Retinitis pigmentosa, a previously unreported finding in glutaric acidemia Type II
Volume: 105 Page(s): 355 - 355
03/01/2012 Authors: Sun A; Hernandez C; Wilcox WR -
Pulmonary Disease and Exercise Intolerance in Boys with Fabry Disease: a Pilot Study
Volume: 105 Page(s): S59 - S59
02/01/2012 Authors: Sun A; Hernandez C; Wilcox W -
Further Characterization of the Critical Region of the 2p15-p16.1 Microdeletion Syndrome
Volume: 136 Page(s): 347 - 348
01/01/2012 Authors: Song J; Lozano R; Spiteri E; Schreck R; Wilcox WR -
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
Hum Mutat Volume: 33 Page(s): 29 - 41
01/01/2012 Authors: Foldynova-Trantirkova S; Wilcox WR; Krejci P -
Receptor tyrosine kinases activate canonical WNT/-catenin signaling via MAP kinase/LRP6 pathway and direct -catenin phosphorylation.
PLoS One Volume: 7 Page(s): e35826
01/01/2012 Authors: Krejci P; Aklian A; Kaucka M; Sevcikova E; Prochazkova J; Masek JK; Mikolka P; Pospisilova T; Spoustova T; Weis M -
Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.
Genet Med Volume: 13 Page(s): 457 - 484
05/01/2011 Authors: Wang RY; Bodamer OA; Watson MS; Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases -
Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree.
Am J Med Genet A Volume: 155A Page(s): 742 - 747
04/01/2011 Authors: Reinstein E; Wang RY; Zhan L; Rimoin DL; Wilcox WR -
The novel JAK inhibitor AZD1480 blocks STAT3 and FGFR3 signaling, resulting in suppression of human myeloma cell growth and survival.
Leukemia Volume: 25 Page(s): 538 - 550
03/01/2011 Authors: Scuto A; Krejci P; Popplewell L; Wu J; Wang Y; Kujawski M; Kowolik C; Xin H; Chen L; Wang Y -
Pulmonary disease and exercise tolerance in boys with Fabry disease: A pilot study
Volume: 102 Page(s): S47 - S47
02/01/2011 Authors: Wilcox W -
Few females develop anti-alpha-galactosidase A IgG antibodies in response to agalsidase beta treatment: data from the Fabry Registry
Volume: 102 Page(s): S46 - S47
02/01/2011 Authors: Wilcox W; Gruskin D; Warnock D -
EHLERS-DANLOS TYPE VIII, PERIODONTITIS-TYPE: FURTHER DELINEATION OF THE SYNDROME IN A 4-GENERATION PEDIGREE
JOURNAL OF INVESTIGATIVE MEDICINE Volume: 59 Page(s): 109 - 110
01/01/2011 Authors: Reinstein E; Wang RY; Rimoin DL; Wilcox WR -
Mitogen-activated protein kinases promote WNT/beta-catenin signaling via phosphorylation of LRP6.
Mol Cell Biol Volume: 31 Page(s): 179 - 189
01/01/2011 Authors: ervenka I; Wolf J; Maek J; Krejci P; Wilcox WR; Kozubk A; Schulte G; Gutkind JS; Bryja V -
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Am J Hum Genet Volume: 87 Page(s): 708 - 712
11/12/2010 Authors: Tompson SW; Bacino CA; Safina NP; Bober MB; Proud VK; Funari T; Wangler MF; Nevarez L; Ala-Kokko L; Wilcox WR -
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Am J Hum Genet Volume: 87 Page(s): 532 - 537
10/08/2010 Authors: Funari VA; Krakow D; Nevarez L; Chen Z; Funari TL; Vatanavicharn N; Wilcox WR; Rimoin DL; Nelson SF; Cohn DH -
FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence
Volume: 344 Page(s): 508 - 508
08/01/2010 Authors: Krejci P; Prochazkova J; Smutny J; Chlebova K; Lin P; Aklian A; Bryja V; Kozubik A; Wilcox W -
NF449 is a novel inhibitor of fibroblast growth factor receptor 3 (FGFR3) signaling active in chondrocytes and multiple myeloma cells.
J Biol Chem Volume: 285 Page(s): 20644 - 20653
07/02/2010 Authors: Krejci P; Murakami S; Prochazkova J; Trantirek L; Chlebova K; Ouyang Z; Aklian A; Smutny J; Bryja V; Kozubik A -
FGFR3 signaling induces a reversible senescence phenotype in chondrocytes similar to oncogene-induced premature senescence.
Bone Volume: 47 Page(s): 102 - 110
07/01/2010 Authors: Krejci P; Prochazkova J; Smutny J; Chlebova K; Lin P; Aklian A; Bryja V; Kozubik A; Wilcox WR -
Medical foods: inborn errors of metabolism and the reimbursement dilemma.
Genet Med Volume: 12 Page(s): 364 - 369
06/01/2010 Authors: Weaver MA; Johnson A; Singh RH; Wilcox WR; Lloyd-Puryear MA; Watson MS -
Cardiovascular manifestations of Fabry disease: relationships between left ventricular hypertrophy, disease severity, and alpha-galactosidase A activity.
Eur Heart J Volume: 31 Page(s): 1088 - 1097
05/01/2010 Authors: Wu JC; Ho CY; Skali H; Abichandani R; Wilcox WR; Banikazemi M; Packman S; Sims K; Solomon SD -
Molecular pathology of the fibroblast growth factor family.
Hum Mutat Volume: 30 Page(s): 1245 - 1255
09/01/2009 Authors: Krejci P; Prochazkova J; Bryja V; Kozubik A; Wilcox WR -
Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy.
Nephrol Dial Transplant Volume: 24 Page(s): 2102 - 2111
07/01/2009 Authors: Schiffmann R; Warnock DG; Banikazemi M; Bultas J; Linthorst GE; Packman S; Sorensen SA; Wilcox WR; Desnick RJ -
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a novel RAB-6 interacting golgin
Volume: 44 Page(s): S232 - S232
06/01/2009 Authors: Kornak U; Hennies H; Zhang H; Egerer J; Zhang X; Kuehnisch J; Seifert W; Budde B; Brancati F; Wilcox WC -
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.
Hum Mol Genet Volume: 18 Page(s): 1951 - 1961
06/01/2009 Authors: Salazar L; Kashiwada T; Krejci P; Muchowski P; Donoghue D; Wilcox WR; Thompson LM -
Pulmonary disease and exercise tolerance in boys with fabry disease
Volume: 96 Page(s): S46 - S46
02/01/2009 Authors: Wilcox W -
FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.
Hum Mol Genet Volume: 18 Page(s): 227 - 240
01/15/2009 Authors: Matsushita T; Wilcox WR; Chan YY; Kawanami A; Bklmez H; Balmes G; Krejci P; Mekikian PB; Otani K; Yamaura I -
Fibroblast growth factor inhibits interferon gamma-STAT1 and interleukin 6-STAT3 signaling in chondrocytes.
Cell Signal Volume: 21 Page(s): 151 - 160
01/01/2009 Authors: Krejci P; Prochazkova J; Bryja V; Jelinkova P; Pejchalova K; Kozubik A; Thompson LM; Wilcox WR -
High molecular weight FGF2: the biology of a nuclear growth factor.
Cell Mol Life Sci Volume: 66 Page(s): 225 - 235
01/01/2009 Authors: Chlebova K; Bryja V; Dvorak P; Kozubik A; Wilcox WR; Krejci P -
SUBSTANTIAL SIGNS AND SYMPTOMS OF FABRY DISEASE AMONG CHILDREN: NATURAL HISTORY DATA FROM 352 PEDIATRIC PATIENTS IN THE FABRY REGISTRY
Volume: 31 Page(s): S29 - S29
01/01/2009 Authors: Hopkin RJ; Bissler J; Banikazemi M; Clarke L; Eng CM; Germain DP; Lemay R; Tylki-Szymanska A; Wilcox WR -
Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage.
J Inherit Metab Dis Volume: 31 Suppl 2 Page(s): S369 - S374
12/01/2008 Authors: Wang RY; Abe JT; Cohen AH; Wilcox WR -
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin.
Nat Genet Volume: 40 Page(s): 1410 - 1412
12/01/2008 Authors: Hennies HC; Kornak U; Zhang H; Egerer J; Zhang X; Seifert W; Khnisch J; Budde B; Ntebus M; Brancati F -
Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report.
J Inherit Metab Dis Volume: 31 Suppl 3 Page(s): 477 - 481
12/01/2008 Authors: Vatanavicharn N; Pressman BD; Wilcox WR -
Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry.
Pediatr Res Volume: 64 Page(s): 550 - 555
11/01/2008 Authors: Hopkin RJ; Bissler J; Banikazemi M; Clarke L; Eng CM; Germain DP; Lemay R; Tylki-Szymanska A; Wilcox WR -
Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis.
Am J Med Genet A Volume: 146A Page(s): 1917 - 1924
08/01/2008 Authors: Krakow D; Alanay Y; Rimoin LP; Lin V; Wilcox WR; Lachman RS; Rimoin DL -
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Nat Genet Volume: 40 Page(s): 999 - 1003
08/01/2008 Authors: Rock MJ; Prenen J; Funari VA; Funari TL; Merriman B; Nelson SF; Lachman RS; Wilcox WR; Reyno S; Quadrelli R -
Pulmonary fabry disease associated with lysosomal storage of globotriaosyleeramide in lung tissue.
Volume: 93 Page(s): 264 - 265
03/01/2008 Authors: Wang R; Abe J; Cohen A; Wilcox W -
Natural history of Fabry disease: Progression of the nephropathy in a large series of affected males and heterozygous females
Volume: 93 Page(s): S41 - S42
02/01/2008 Authors: Wilcox W; Schffinann R; Banikozeni M; Bultas J; Linthorst G; Packman S; Sorensen S; Warnock D; Desnick R -
Characterization of Fabry disease in 283 pediatric patients in the Fabry Registry
Volume: 93 Page(s): S24 - S24
02/01/2008 Authors: Hopkin RJ; Wilcox WR; Eng CM; Bissler J -
Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.
Mol Genet Metab Volume: 93 Page(s): 112 - 128
02/01/2008 Authors: Wilcox WR; Oliveira JP; Hopkin RJ; Ortiz A; Banikazemi M; Feldt-Rasmussen U; Sims K; Waldek S; Pastores GM; Lee P -
STAT1 and STAT3 do not participate in FGF-mediated growth arrest in chondrocytes.
J Cell Sci Volume: 121 Page(s): 272 - 281
02/01/2008 Authors: Krejci P; Salazar L; Goodridge HS; Kashiwada TA; Schibler MJ; Jelinkova P; Thompson LM; Wilcox WR -
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
PLoS One Volume: 3 Page(s): e3961
01/01/2008 Authors: Krejci P; Salazar L; Kashiwada TA; Chlebova K; Salasova A; Thompson LM; Bryja V; Kozubik A; Wilcox WR -
FABRY DISEASE: PROGRESSION OF THE UNTREATED NEPHROPATHY IN A LARGE SERIES OF CLASSICALLY AFFECTED MALES AND HETEROZYGOUS FEMALES
Volume: 30 Page(s): S106 - S106
01/01/2008 Authors: Warnock DG; Schiffmann R; Banikazemi M; Bultas J; Linthorst GE; Packman S; Sorensen SA; Wilcox WR; Desnick RJ -
CHARACTERIZATION OF FABRY DISEASE IN 352 PEDIATRIC PATIENTS IN THE FABRY REGISTRY
Volume: 30 Page(s): S104 - S105
01/01/2008 Authors: Hopkin RJ; Bissler J; Banikazemi M; Clarke L; Eng CM; Germain DP; Lemay R; Tylki-Szymanska A; Wilcox WR -
Females with X-linked Fabry disease frequently have significant organ involvement
Volume: 92 Page(s): S32 - S32
12/01/2007 Authors: Wilcox W; Germain D -
The antiapoptotic protein Api5 and its partner, high molecular weight FGF2, are up-regulated in B cell chronic lymphoid leukemia.
J Leukoc Biol Volume: 82 Page(s): 1363 - 1364
12/01/2007 Authors: Krejci P; Pejchalova K; Rosenbloom BE; Rosenfelt FP; Tran EL; Laurell H; Wilcox WR -
Fabry disease female heterozygotes are not just "carriers", but have a significant burden of disease and impaired quality of life
Volume: 92 Page(s): S25 - S25
12/01/2007 Authors: Wang R; Lelis A; Mirocha J; Wilcox WR -
Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia. Report of four cases.
J Neurosurg Volume: 107 Page(s): 504 - 507
12/01/2007 Authors: Danielpour M; Wilcox WR; Alanay Y; Pressman BD; Rimoin DL -
C-natriuretic peptide: an important regulator of cartilage.
Mol Genet Metab Volume: 92 Page(s): 210 - 215
11/01/2007 Authors: Pejchalova K; Krejci P; Wilcox WR -
The skeletal dysplasias: clinical-molecular correlations.
Ann N Y Acad Sci Volume: 1117 Page(s): 302 - 309
11/01/2007 Authors: Rimoin DL; Cohn D; Krakow D; Wilcox W; Lachman RS; Alanay Y -
Diaphanospondylodysostosis: six new cases and exclusion of the candidate genes, PAX1 and MEOX1.
Am J Med Genet A Volume: 143A Page(s): 2292 - 2302
10/01/2007 Authors: Vatanavicharn N; Graham JM; Curry CJ; Pepkowitz S; Lachman RS; Rimoin DL; Wilcox WR -
Simple, mammalian cell-based assay for identification of inhibitors of the Erk MAP kinase pathway.
Invest New Drugs Volume: 25 Page(s): 391 - 395
08/01/2007 Authors: Krejci P; Pejchalova K; Wilcox WR -
Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.
J Am Soc Nephrol Volume: 18 Page(s): 1547 - 1557
05/01/2007 Authors: Germain DP; Waldek S; Banikazemi M; Bushinsky DA; Charrow J; Desnick RJ; Lee P; Loew T; Vedder AC; Abichandani R -
Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry.
J Inherit Metab Dis Volume: 30 Page(s): 184 - 192
04/01/2007 Authors: Eng CM; Fletcher J; Wilcox WR; Waldek S; Scott CR; Sillence DO; Breunig F; Charrow J; Germain DP; Nicholls K -
Fibroblast growth factors 1, 2, 17, and 19 are the predominant FGF ligands expressed in human fetal growth plate cartilage.
Pediatr Res Volume: 61 Page(s): 267 - 272
03/01/2007 Authors: Krejci P; Krakow D; Mekikian PB; Wilcox WR -
Outcomes and complications of CPT1A deficiency observed during the long-term follow up of 4 cases.
Volume: 90 Page(s): 263 - 263
03/01/2007 Authors: Vatanavicharn N; Salazar D; Mekikian PB; Wilcox WR -
Bisindolylmaleimide I suppresses fibroblast growth factor-mediated activation of Erk MAP kinase in chondrocytes by preventing Shp2 association with the Frs2 and Gab1 adaptor proteins.
J Biol Chem Volume: 282 Page(s): 2929 - 2936
02/02/2007 Authors: Krejci P; Masri B; Salazar L; Farrington-Rock C; Prats H; Thompson LM; Wilcox WR -
Agalsidase-beta therapy for advanced Fabry disease: a randomized trial.
Ann Intern Med Volume: 146 Page(s): 77 - 86
01/16/2007 Authors: Banikazemi M; Bultas J; Waldek S; Wilcox WR; Whitley CB; McDonald M; Finkel R; Packman S; Bichet DG; Warnock DG -
Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.
Genet Med Volume: 9 Page(s): 34 - 45
01/01/2007 Authors: Wang RY; Lelis A; Mirocha J; Wilcox WR -
Long-term agalsidase beta therapy is associated with improvements in pain and quality of life among patients with Fabry disease
Volume: 29 Page(s): S31 - S31
01/01/2007 Authors: Guffon N; Germain DP; Waldek S; Banikazemi M; Bushinsky DA; Charrow J; Lee P; Loew T; Vedder AC; Wilcox WR -
Fabry disease: guidelines for the evaluation and management of multi-organ system involvement.
Genet Med Volume: 8 Page(s): 539 - 548
09/01/2006 Authors: Eng CM; Germain DP; Banikazemi M; Warnock DG; Wanner C; Hopkin RJ; Bultas J; Lee P; Sims K; Brodie SE -
Heterozygous Fabry females suffer from significant multisystemic disease and impairment in quality of life
JOURNAL OF INHERITED METABOLIC DISEASE Volume: 29 Page(s): 22 - 22
08/01/2006 Authors: Wang RW; Lelis A; Wilcox WR -
Improvement in serial cardiopulmonary exercise testing following enzyme replacement therapy in Fabry disease.
J Inherit Metab Dis Volume: 29 Page(s): 572 - 579
08/01/2006 Authors: Bierer G; Balfe D; Wilcox WR; Mosenifar Z -
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.
Am J Med Genet A Volume: 140 Page(s): 1553 - 1563
07/15/2006 Authors: Elliott AM; Wilcox WR; Spear GS; Field FM; Steffensen TS; Friedman BD; Rimoin DL; Lachman RS -
The fibroblast growth factors in multiple myeloma.
Leukemia Volume: 20 Page(s): 1165 - 1168
06/01/2006 Authors: Krejci P; Mekikian PB; Wilcox WR -
A lethal skeletal dysplasia resembling Desbuquois dysplasia.
Volume: 54 Page(s): S99 - S100
01/01/2006 Authors: Agarwal VK; Bui K; Salazar D; Lachman RS; Witt DR; Field F; Rimoin DL; Wilcox WR -
Interaction of fibroblast growth factor and C-natriuretic peptide signaling in regulation of chondrocyte proliferation and extracellular matrix homeostasis.
J Cell Sci Volume: 118 Page(s): 5089 - 5100
11/01/2005 Authors: Krejci P; Masri B; Fontaine V; Mekikian PB; Weis M; Prats H; Wilcox WR -
Dysregulation of chondrogenesis in human cleidocranial dysplasia.
Am J Hum Genet Volume: 77 Page(s): 305 - 312
08/01/2005 Authors: Zheng Q; Sebald E; Zhou G; Chen Y; Wilcox W; Lee B; Krakow D -
Spondylo-mega-epiphyseal dysplasia with prominent upper limb mesomelia, punctate calcifications, and deafness.
Am J Med Genet A Volume: 136 Page(s): 233 - 241
07/30/2005 Authors: Agarwal VK; Lachman RS; Rimoin DL; Wilcox WR -
Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005].
Am J Med Genet A Volume: 135 Page(s): 333
06/15/2005 Authors: Wilcox WR; Wenger DA; Lachman RS; Rimoin DL -
Clinical benefits of early treatment with Fabrazyme (R) in Fabry disease
Volume: 20 Page(s): V10 - V10
06/01/2005 Authors: Waldek S; Banikazemi M; Bultas J; Wilcox W; Whitley C; McDonald M; Finkel R; Packman S; Bichet D; Warnock D -
Differentiating campomelic dysplasia from Cumming syndrome.
Am J Med Genet A Volume: 135 Page(s): 110 - 112
05/15/2005 Authors: Watiker V; Lachman RS; Wilcox WR; Barroso I; Schafer AJ; Scherer G -
Marinesco-Sjgren syndrome in a male with mild dysmorphism.
Am J Med Genet A Volume: 133A Page(s): 197 - 201
03/01/2005 Authors: Slavotinek A; Goldman J; Weisiger K; Kostiner D; Golabi M; Packman S; Wilcox W; Hoyme HE; Sherr E -
End stage renal disease in a 13-year-old female with intermediate sialic acid storage disease.
Volume: 84 Page(s): 241 - 241
03/01/2005 Authors: Wang R; Cohen A; Wilcox W -
Cardiopulmonary exercise testing in Fabry disease.
Respiration Volume: 72 Page(s): 504 - 511
01/01/2005 Authors: Bierer G; Kamangar N; Balfe D; Wilcox WR; Mosenifar Z -
Mutations in the EVC1 gene are not a common finding in the Ellis-van Creveld and short rib-polydactyly type III syndromes.
Am J Med Genet A Volume: 130A Page(s): 96 - 97
09/15/2004 Authors: Takamine Y; Krejci P; Mekikian PB; Wilcox WR -
Marked phenotypic variability in progressive diaphyseal dysplasia (Camurati-Engelmann disease): report of a four-generation pedigree, identification of a mutation in TGFB1, and review.
Am J Med Genet A Volume: 129A Page(s): 235 - 247
09/01/2004 Authors: Wallace SE; Lachman RS; Mekikian PB; Bui KK; Wilcox WR -
FGF2 inhibits proliferation and alters the cartilage-like phenotype of RCS cells.
Exp Cell Res Volume: 297 Page(s): 152 - 164
07/01/2004 Authors: Krejci P; Bryja V; Pachernik J; Hampl A; Pogue R; Mekikian P; Wilcox WR -
Long-term safety and efficacy of enzyme replacement therapy for Fabry disease.
Am J Hum Genet Volume: 75 Page(s): 65 - 74
07/01/2004 Authors: Wilcox WR; Banikazemi M; Guffon N; Waldek S; Lee P; Linthorst GE; Desnick RJ; Germain DP; International Fabry Disease Study Group -
Lysosomal storage disorders: the need for better pediatric recognition and comprehensive care.
J Pediatr Volume: 144 Page(s): S3 - 14
05/01/2004 Authors: Wilcox WR -
X-inactivation profiles in oto-palato-digital (OPD) syndrome families
Volume: 55 Page(s): 271A - 272A
04/01/2004 Authors: Cottrell CE; Sommer A; Wenger GD; Krahn K; Modesto A; VanWesten L; Bullard S; Wilcox WR; Ogata T; Lidral AC -
Progressive diaphyseal dysplasia (Camurati-Engelmann disease): Report of a four-generation pedigree, review of the literature, and identification of mutations in transforming growth factor beta-1
Volume: 52 Page(s): S100 - S100
01/01/2004 Authors: Wallace SE; Lachman RS; Mekikian PB; Bui KK; Wilcox W -
Larsen syndrome clinical and radiographic delineation
Volume: 52 Page(s): S100 - S100
01/01/2004 Authors: Earl D; Kreutzman J; Field F; Krakow D; Wilcox W; Rimoin D; Lachman R; Graham J -
Natural history of Fabry disease.
Volume: 14 Page(s): 115A - 115A
11/01/2003 Authors: Banikazemi M; Schiffmann R; Bultas J; Linthorst GE; Packman S; Sorensen SA; Wilcox WR; Desnick RJ -
The Fabry registry: Centralized collection of data of the natural history of the disorder.
Volume: 14 Page(s): 115A - 116A
11/01/2003 Authors: Wanner C; Wilcox W; Waldek S -
Natural history of Fabry disease.
Volume: 73 Page(s): 628 - 628
11/01/2003 Authors: Banikazemi M; Schiffmann R; Bultas J; Linthorst GE; Packman S; Sorensen SA; Wilcox WR; Desnick RJ -
Long term enzyme replacement therapy for Fabry disease.
Volume: 73 Page(s): 624 - 624
11/01/2003 Authors: Wilcox WR; Banikazemi M; Guffon N; Lee P; Linthorst GE; Waldek S; Germain DP; Desnick RJ -
Atypical X-inactivation in an X;1 translocation patient with oto-palato-digital syndrome.
Volume: 73 Page(s): 296 - 296
11/01/2003 Authors: Cottrell CE; Sommer A; Wenger GD; Krahn K; Modesto A; Van Westen L; Bullard S; Wilcox WR; Ogata T; Lidral AC -
Lysosomal Disease Clinical Research Center WORLD.
Volume: 73 Page(s): 452 - 452
11/01/2003 Authors: Shapiro E; Elsas L; Eng C; Martin R; Marsden D; Pastores G; Steiner R; Wilcox W; Winter S; Peters C -
Echocardiographic characteristics of a Fabry disease cohort
Volume: 108 Page(s): 552 - 552
10/28/2003 Authors: Wu JC; Skali H; Ho C; Abichandani R; Goldberg M; Wilcox WR; Solomon S -
Fabry disease in a renal allograft.
Am J Transplant Volume: 3 Page(s): 1030 - 1032
08/01/2003 Authors: Puliyanda DP; Wilcox WR; Bunnapradist S; Nast CC; Jordan SC -
Positional cloning of oto-palato-digital syndrome
Volume: 53 Page(s): 257A - 257A
04/01/2003 Authors: Cottrell CE; Lidral AC; Sommer A; Krahn K; Modesto A; Van Westen L; Bullard S; Wilcox WR; Ogata T; Gastier JM -
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.
Am J Hum Genet Volume: 72 Page(s): 1013 - 1017
04/01/2003 Authors: Waterham HR; Koster J; Mooyer P; Noort Gv GV; Kelley RI; Wilcox WR; Wanders RJA; Hennekam RCM; Oosterwijk JC -
Pacman dysplasia: a lethal skeletal dysplasia with variable radiographic features.
Pediatr Radiol Volume: 33 Page(s): 256 - 260
04/01/2003 Authors: Miller SF; Proud VK; Werner AL; Field FM; Wilcox WF; Lachman RS; Rimoin DL -
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.
Nat Genet Volume: 33 Page(s): 487 - 491
04/01/2003 Authors: Robertson SP; Twigg SRF; Sutherland-Smith AJ; Biancalana V; Gorlin RJ; Horn D; Kenwrick SJ; Kim CA; Morava E; Newbury-Ecob R -
Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy.
Ann Intern Med Volume: 138 Page(s): 338 - 346
02/18/2003 Authors: Desnick RJ; Brady R; Barranger J; Collins AJ; Germain DP; Goldman M; Grabowski G; Packman S; Wilcox WR -
Cardiopulmonary exercise testing in Fabry's disease.
Volume: 51 Page(s): S168 - S168
02/01/2003 Authors: Bierer G; Kamangar N; Balfe D; Wilcox W; Mohsenifar Z -
Marinesco-Sjogren syndrome in a male.
Volume: 51 Page(s): S119 - S119
02/01/2003 Authors: Slavotinek A; Sherr E; Goldman J; Weisiger K; Wilcox W; Kostiner D; Golabi M; Hoyme HE; Packman S -
Special issue on skeletal dysplasias - Introduction
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE Volume: 22 Page(s): 1 - 2
01/01/2003 Authors: Wilcox WR -
Shortened PR intervals and cardiac glycolipid levels respond to enzyme replacement therapy in Fabry disease
Volume: 106 Page(s): E103 - E103
10/15/2002 Authors: Lee P; Germain DP; Eng CM; Guffon N; Wilcox WR; Waldek S; Caplan L; Grek V; Tummers R; Desnick RJ -
Enzyme replacement therapy in Fabry disease: Long term safety and efficacy update on a Phase 3 study.
Volume: 71 Page(s): 586 - 586
10/01/2002 Authors: Wilcox W; Germain DP; Banikazemi M; Lee P -
Prenatal cortical hyperostosis (Caffey disease).
Pediatr Radiol Volume: 32 Page(s): 694
09/01/2002 Authors: Savarirayan R; Cormier-Daire V; Amor DJ; Wilcox WR; Lachman RS; Rimoin DL -
Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia.
Hum Genet Volume: 111 Page(s): 179 - 189
08/01/2002 Authors: Gobin S; Bonnefont J-P; Prip-Buus C; Mugnier C; Ferrec M; Demaugre F; Saudubray J-M; Rostane H; Djouadi F; Wilcox W -
Long-term efficacy and safety of enzyme replacement therapy in Fabry disease
Volume: 10 Page(s): 70 - 70
05/01/2002 Authors: Germain DP; Caplan L; Eng CM; Guffon N; Lee P; Linthorst G; Waldeck S; Wilcox WR; Desnick RJ -
Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.
Am J Med Genet Volume: 109 Page(s): 139 - 148
04/22/2002 Authors: Elliott AM; Gonzales M; Hoeffel J-C; Le Merrer M; Maroteaux P; Encha-Razavi F; Joye N; Berchel C; Fliegel C; Aughton DJ -
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases.
J Med Genet Volume: 39 Page(s): 23 - 29
01/01/2002 Authors: Pace JM; Chitayat D; Atkinson M; Wilcox WR; Schwarze U; Byers PH -
RUNX2/CBFA1 regulation of type X collagen gene expression contributes to abnormal endochondral ossification observed in cleidocranial dysplasia.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 187 - 187
10/01/2001 Authors: Zheng Q; Zhou G; Chen Y; Krakow D; Wilcox W; Lee B -
OSTEOCRANIOSTENOSIS - Skull configuration mimicking kleeblattschadel with gracile long bones. Two new cases with distinctive chondro-osseous morphology.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 69 Page(s): 276 - 276
10/01/2001 Authors: Elliott AM; Wilcox WR; Spear GS; Steffensen TS; Rimoin DL; Lachman RS -
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.
N Engl J Med Volume: 345 Page(s): 9 - 16
07/05/2001 Authors: Eng CM; Guffon N; Wilcox WR; Germain DP; Lee P; Waldek S; Caplan L; Linthorst GE; Desnick RJ; International Collaborative Fabry Disease Study Group -
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.
Am J Hum Genet Volume: 68 Page(s): 1398 - 1407
06/01/2001 Authors: Tiller GE; Hannig VL; Dozier D; Carrel L; Trevarthen KC; Wilcox WR; Mundlos S; Haines JL; Gedeon AK; Gecz J -
Member of the Ampakine class of memory enhancers prolongs the single channel open time of reconstituted AMPA receptors.
Synapse Volume: 40 Page(s): 154 - 158
05/01/2001 Authors: Suppiramaniam V; Bahr BA; Sinnarajah S; Owens K; Rogers G; Yilma S; Vodyanoy V -
"Baby rattle" pelvis dysplasia.
Am J Med Genet Volume: 100 Page(s): 37 - 42
04/15/2001 Authors: Cormier-Daire V; Savarirayan R; Lachman RS; Neidich JA; Grace K; Rimoin DL; Wilcox WR -
Dyssegmental dysplasia, Silverman-Handmaker type, is caused by functional null mutations of the perlecan gene.
Nat Genet Volume: 27 Page(s): 431 - 434
04/01/2001 Authors: Arikawa-Hirasawa E; Wilcox WR; Le AH; Silverman N; Govindraj P; Hassell JR; Yamada Y -
Dyssegmental dysplasia, Silverman-Handmaker type: unexpected role of perlecan in cartilage development.
Am J Med Genet Volume: 106 Page(s): 254 - 257
01/01/2001 Authors: Arikawa-Hirasawa E; Wilcox WR; Yamada Y -
Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3.
Am J Med Genet Volume: 98 Page(s): 75 - 91
01/01/2001 Authors: Schweitzer DN; Graham JM; Lachman RS; Jabs EW; Okajima K; Przylepa KA; Shanske A; Chen K; Neidich JA; Wilcox WR -
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia.
Am J Med Genet Volume: 95 Page(s): 482 - 491
12/18/2000 Authors: Iughetti P; Alonso LG; Wilcox W; Alonso N; Passos-Bueno MR -
Uruguay facio-cardio-musculo-skeletal syndrome: a novel X-linked recessive disorder.
Am J Med Genet Volume: 95 Page(s): 247 - 265
11/27/2000 Authors: Quadrelli R; Vaglio A; Reyno S; Lemes A; Salazar D; Lachman RS; Wilcox WR -
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.
Am J Med Genet Volume: 95 Page(s): 193 - 200
11/27/2000 Authors: Savarirayan R; Cormier-Daire V; Unger S; Lachman RS; Roughley PJ; Wagner SF; Rimoin DL; Wilcox WR -
Characterizing the organization of the "liver-type" carnitine palmitoyltransterase 1 (L-CPT1) gene helps unravelling the molecular basis of L-CPT1 deficiency in human.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 67 Page(s): 64 - 64
10/01/2000 Authors: Gobin S; Bonnefont JP; Prip-Buus C; Munier C; Ferrec M; Avon A; Demaugre F; Saudubray JM; Kadhom N; Wilcox W -
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromes.
Eur J Hum Genet Volume: 8 Page(s): 645 - 648
08/01/2000 Authors: Krakow D; Salazar D; Wilcox WR; Rimoin DL; Cohn DH -
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasia.
Matrix Biol Volume: 19 Page(s): 121 - 128
05/01/2000 Authors: Spayde EC; Joshi AP; Wilcox WR; Briggs M; Cohn DH; Olsen BR -
A mild form of autosomal recessive Craniotubular Dyplasia in a large inbred Brazilian family.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A337 - A337
10/01/1999 Authors: Passos-Bueno MR; Wilcox WR; Alonso N; Alonso LG -
A new syndrome with targe hands, foot deformities, and scoliosis maps to Xq24-26.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A342 - A342
10/01/1999 Authors: Salazar D; Vaglio A; Quadrelli R; Reyno S; Lemes A; Lachman RS; Wilcox WR -
Achondroplasia/hypochondroplasia intermediate phenotype was also associated with the N540K substitution in the FGFR3 gene.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A498 - A498
10/01/1999 Authors: Wilcox WR; FAno V; Chertkoff L; Bonaventure G; Barreiro C; Kitoh H; Kim D; Eswara M; Shelley S; Grix A -
Prenatal cortical hyperostosis (Caffey Disease): clinical, radiographic and chondro-osseous findings in 9 new cases.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 65 Page(s): A7 - A7
10/01/1999 Authors: Cormier-Daire V; Savarirayan R; Wilcox WR; Lachman RS; Rimoin DL -
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
Am J Hum Genet Volume: 65 Page(s): 308 - 317
08/01/1999 Authors: Colige A; Sieron AL; Li SW; Schwarze U; Petty E; Wertelecki W; Wilcox W; Krakow D; Cohn DH; Reardon W -
Small deletions in the type II collagen triple helix produce kniest dysplasia.
Am J Med Genet Volume: 85 Page(s): 105 - 112
07/16/1999 Authors: Wilkin DJ; Artz AS; South S; Lachman RS; Rimoin DL; Wilcox WR; McKusick VA; Stratakis CA; Francomano CA; Cohn DH -
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Am J Med Genet Volume: 85 Page(s): 53 - 65
07/02/1999 Authors: Bellus GA; Bamshad MJ; Przylepa KA; Dorst J; Lee RR; Hurko O; Jabs EW; Curry CJ; Wilcox WR; Lachman RS -
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hnermann syndrome.
Nat Genet Volume: 22 Page(s): 291 - 294
07/01/1999 Authors: Braverman N; Lin P; Moebius FF; Obie C; Moser A; Glossmann H; Wilcox WR; Rimoin DL; Smith M; Kratz L -
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
Am J Med Genet Volume: 84 Page(s): 476 - 480
06/11/1999 Authors: Brodie SG; Kitoh H; Lachman RS; Nolasco LM; Mekikian PB; Wilcox WR -
Lethal osteosclerotic skeletal dysplasia with intracellular inclusion bodies.
Am J Med Genet Volume: 83 Page(s): 372 - 377
04/23/1999 Authors: Brodie SG; Lachman RS; McGovern MM; Mekikian PB; Wilcox WR -
Abnormal sterol metabolism in patients with Conradi-Hnermann-Happle syndrome and sporadic lethal chondrodysplasia punctata.
Am J Med Genet Volume: 83 Page(s): 213 - 219
03/19/1999 Authors: Kelley RI; Wilcox WG; Smith M; Kratz LE; Moser A; Rimoin DS -
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Am J Hum Genet Volume: 64 Page(s): 722 - 731
03/01/1999 Authors: Tavormina PL; Bellus GA; Webster MK; Bamshad MJ; Fraley AE; McIntosh I; Szabo J; Jiang W; Jabs EW; Wilcox WR -
Clinical spectrum of fibroblast growth factor receptor mutations.
Hum Mutat Volume: 14 Page(s): 115 - 125
01/01/1999 Authors: Passos-Bueno MR; Wilcox WR; Jabs EW; Serti AL; Alonso LG; Kitoh H -
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
Hum Mol Genet Volume: 8 Page(s): 123 - 128
01/01/1999 Authors: Dlot E; King LM; Briggs MD; Wilcox WR; Cohn DH -
Lethal osteosclerotic osteochondrodysplasia with platyspondyly, metaphyseal widening, and intracellular inclusions in sibs.
Am J Med Genet Volume: 80 Page(s): 423 - 428
12/04/1998 Authors: Brodie SG; Lachman RS; Jewell AF; Winkler CL; Nolasco L; Wilcox WR -
Thanatophoric dysplasia type I with syndactyly.
Am J Med Genet Volume: 80 Page(s): 260 - 262
11/16/1998 Authors: Brodie SG; Kitoh H; Lipson M; Sifry-Platt M; Wilcox WR -
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type II.
Am J Med Genet Volume: 80 Page(s): 247 - 251
11/16/1998 Authors: Brodie SG; Lachman RS; Crandall BF; Fox MA; Rimoin DL; Cohn DH; Wilcox WR -
International nomenclature and classification of the osteochondrodysplasias (1997)
AMERICAN JOURNAL OF MEDICAL GENETICS Volume: 79 Page(s): 376 - 382
10/12/1998 Authors: Rimoin DL; Francomano CA; Giedion A; Hall C; Kaitila I; Cohn D; Gorlin R; Hall J; Horton W; Krakow D -
International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone.
Am J Med Genet Volume: 79 Page(s): 376 - 382
10/12/1998 -
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in culture.
J Biol Chem Volume: 273 Page(s): 26692 - 26697
10/09/1998 Authors: Dlot E; Brodie SG; King LM; Wilcox WR; Cohn DH -
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego type.
Pediatr Radiol Volume: 28 Page(s): 759 - 763
10/01/1998 Authors: Kitoh H; Lachman RS; Brodie SG; Mekikian PB; Rimoin DL; Wilcox WR -
Cumming syndrome: report of two additional cases.
Pediatr Radiol Volume: 28 Page(s): 798 - 801
10/01/1998 Authors: Dibbern KM; Graham JM; Lachman RS; Wilcox WR -
Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production.
Matrix Biol Volume: 17 Page(s): 361 - 369
10/01/1998 Authors: Rossi A; Kaitila I; Wilcox WR; Rimoin DL; Steinmann B; Cetta G; Superti-Furga A -
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia.
Arch Biochem Biophys Volume: 355 Page(s): 282 - 290
07/15/1998 Authors: Fernandes RJ; Wilkin DJ; Weis MA; Wilcox WR; Cohn DH; Rimoin DL; Eyre DR -
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
Am J Med Genet Volume: 78 Page(s): 274 - 281
07/07/1998 Authors: Wilcox WR; Tavormina PL; Krakow D; Kitoh H; Lachman RS; Wasmuth JJ; Thompson LM; Rimoin DL -
Pacman dysplasia: report of two affected sibs.
Am J Med Genet Volume: 77 Page(s): 272 - 276
05/26/1998 Authors: Wilcox WR; Lucas BC; Loebel B; Bachman RP; Lachman RS; Rimoin DL -
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
J Biol Chem Volume: 273 Page(s): 4761 - 4768
02/20/1998 Authors: Weis MA; Wilkin DJ; Kim HJ; Wilcox WR; Lachman RS; Rimoin DL; Cohn DH; Eyre DR -
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
Am J Hum Genet Volume: 62 Page(s): 311 - 319
02/01/1998 Authors: Briggs MD; Mortier GR; Cole WG; King LM; Golik SS; Bonaventure J; Nuytinck L; De Paepe A; Leroy JG; Biesecker L -
Gracile bone dysplasia.
Am J Med Genet Volume: 75 Page(s): 95 - 100
01/06/1998 Authors: Thomas JA; Rimoin DL; Lachman RS; Wilcox WR -
Electron microscopical study in multiple epiphyseal dysplasia type II.
Ultrastruct Pathol Volume: 22 Page(s): 249 - 251
01/01/1998 Authors: van Mourik JB; Buma P; Wilcox WR -
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasia.
J Med Genet Volume: 34 Page(s): 854 - 856
10/01/1997 Authors: Castriota-Scanderbeg A; Mingarelli R; Caramia G; Osimani P; Lachman RS; Rimoin DL; Wilcox WR; Dallapiccola B -
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A116 - A116
10/01/1997 Authors: Wilcox WR; Tavormina PL; Krakow D; Lachman RS; Wasmuth JJ; Thompson LM; Rimoin DL -
Radiographic and morphologic findings in a previously undescribed type of atelosteogenesis.
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 61 Page(s): A92 - A92
10/01/1997 Authors: Brodie SG; Lachman RS; Crandall B; Fox M; Rimoin DL; Cohn DH; Wilcox WR -
Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC.
Am J Med Genet Volume: 68 Page(s): 25 - 28
01/10/1997 Authors: Fujimoto A; Wilcox WR; Cohn DH -
In utero bone marrow transplantation for severe genetic diseases using histoincompatible CD34+ cells.
EXPERIMENTAL HEMATOLOGY Volume: 24 Page(s): 108 - 108
08/01/1996 Authors: Parkman R; Carlson D; Crooks GM; Falk R; Kohn DB; Platt L; Weinberg KI; Wilcox W; Zanjani E -
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
Ann N Y Acad Sci Volume: 785 Page(s): 195 - 201
06/08/1996 Authors: Superti-Furga A; Hstbacka J; Rossi A; van der Harten JJ; Wilcox WR; Cohn DH; Rimoin DL; Steinmann B; Lander ES; Gitzelmann R -
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Ann N Y Acad Sci Volume: 785 Page(s): 188 - 194
06/08/1996 Authors: Cohn DH; Briggs MD; King LM; Rimoin DL; Wilcox WR; Lachman RS; Knowlton RG -
Sulfate transport in chondrodysplasia.
Ann N Y Acad Sci Volume: 785 Page(s): 131 - 136
06/08/1996 Authors: Hstbacka J; Superti-Furga A; Wilcox WR; Rimoin DL; Cohn DH; Lander ES -
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Am J Hum Genet Volume: 58 Page(s): 255 - 262
02/01/1996 Authors: Hstbacka J; Superti-Furga A; Wilcox WR; Rimoin DL; Cohn DH; Lander ES -
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene.
Nat Genet Volume: 12 Page(s): 100 - 102
01/01/1996 Authors: Superti-Furga A; Hstbacka J; Wilcox WR; Cohn DH; van der Harten HJ; Rossi A; Blau N; Rimoin DL; Steinmann B; Lander ES -
A new skeletal dysplasia with epiphyseal stippling and osteoclastic hyperactivity.
JOURNAL OF INVESTIGATIVE MEDICINE Volume: 44 Page(s): A142 - A142
01/01/1996 Authors: Lucas BC; Wilcox WR; Bachman R; Loebel B; Lachman RS; Rimoin DL -
DEFECTIVE SULFATION OF PROTEOGLYCANS IN ACHONDROGENESIS TYPE IB IS CAUSED BY MUTATIONS IN THE DTDST GENE - THE DISORDER IS ALLELIC TO DIASTROPHIC DYSPLASIA
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 243 - 243
10/01/1995 Authors: SUPERTIFURGA A; HASTBACKA J; COHN DH; WILCOX W; VANDERHARTEN HJ; RIMOIN DL; LANDER S; STEINMANN B; GITZELMANN R -
ATELOSTEOGENESIS TYPE-II IS CAUSED BY MUTATIONS IN THE DIASTROPHIC DYSPLASIA SULFATE TRANSPORTER GENE (DTDST)
AMERICAN JOURNAL OF HUMAN GENETICS Volume: 57 Page(s): 244 - 244
10/01/1995 Authors: HASTBACKA J; WILCOX WR; SUPERTIFURGA A; RIMOIN DL; COHN DH; LANDER ES -
MARINESCO-SJOGREN SYNDROME IS A LYSOSOMAL LIPID STORAGE DISORDER AND IS NOT CORRECTED IN-VITRO BY COCULTURE WITH CONTROL-CELLS
PEDIATRIC RESEARCH Volume: 37 Page(s): A155 - A155
04/01/1995 Authors: WILCOX WR; GRAHAM JM; REINKER K; HSIA YE; RIMOIN DL -
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
Nat Genet Volume: 9 Page(s): 321 - 328
03/01/1995 Authors: Tavormina PL; Shiang R; Thompson LM; Zhu YZ; Wilkin DJ; Lachman RS; Wilcox WR; Rimoin DL; Cohn DH; Wasmuth JJ -
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimer.
Hum Mol Genet Volume: 4 Page(s): 285 - 288
02/01/1995 Authors: Mortier GR; Wilkin DJ; Wilcox WR; Rimoin DL; Lachman RS; Eyre DR; Cohn DH -
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
Am J Hum Genet Volume: 55 Page(s): 1128 - 1136
12/01/1994 Authors: Bogaert R; Wilkin D; Wilcox WR; Lachman R; Rimoin D; Cohn DH; Eyre DR -
Thermodynamics of melittin tetramerization determined by circular dichroism and implications for protein folding.
Protein Sci Volume: 1 Page(s): 641 - 653
05/01/1992 Authors: Wilcox W; Eisenberg D -
ATOMIC SOLVATION PARAMETERS AND HYDROPHOBIC MOMENTS FOR ASSESSING PROTEIN AND LIGAND STABILITY
BIOPHYSICAL JOURNAL Volume: 51 Page(s): A22 - A22
02/01/1987 Authors: EISENBERG D; YAMASHITA M; WILCOX W; TALAFOUS J; WESSON M -
The design, synthesis, and crystallization of an alpha-helical peptide.
Proteins Volume: 1 Page(s): 16 - 22
09/01/1986 Authors: Eisenberg D; Wilcox W; Eshita SM; Pryciak PM; Ho SP; DeGrado WF -
DESIGN OF A SYNTHETIC 4-HELICAL BUNDLE PROTEIN
BIOPHYSICAL JOURNAL Volume: 49 Page(s): A573 - A573
02/01/1986 Authors: DEGRADO WF; HO SP; WEBER PC; SALEMME FR; WILCOX W; ESHITA S; PRYCIAK P; EISENBERG D -
Hydrophobicity and amphiphilicity in protein structure.
J Cell Biochem Volume: 31 Page(s): 11 - 17
01/01/1986 Authors: Eisenberg D; Wilcox W; McLachlan AD