Wilcox, William

Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics

Connective tissue disorders researchProtease and Inhibitor Mechanisms

Cited by 370

Mutations in the gene encoding 3β- hydroxysteroid-Δ8,Δ7- isomerase cause X-linked dominant Conradi-Hünermann syndrome

Braverman, N., Lin, P., Moebius, F. F., Obie, C., Moser, A., Glossmann, H., Wilcox, W. R., Rimoin, D. L., Smith, M., Kratz, L., et al. (1999) · Nature Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 285

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

Foldynova-Trantirkova, S., Wilcox, W. R., & Krejci, P. (2012) · Human Mutation

Connective tissue disorders researchFibroblast Growth Factor Research

Cited by 216

Mitogen-Activated Protein Kinases Promote WNT/β-Catenin Signaling via Phosphorylation of LRP6

Červenka, I., Wolf, J., Mašek, J., Krejci, P., Wilcox, W. R., Kozubík, A., Schulte, G., Gutkind, J. S., & Bryja, V. (2011) · Molecular and Cellular Biology

Wnt/β-catenin signaling in development and cancerSignaling Pathways in Disease

Cited by 117

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Goeldner, C., Kishnani, P. S., Skotko, B. G., Casero, J. L., Hipp, J. F., Derks, M., Hernandez, M.-C., Khwaja, O., Lennon-Chrimes, S., Noeldeke, J., et al. (2022) · Journal of Neurodevelopmental Disorders

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

Cited by 48

Newborn Screening for X-Linked Adrenoleukodystrophy in Georgia: Experiences from a Pilot Study Screening of 51,081 Newborns

Hall, P. L., Li, H., Hagar, A. F., Jerris, S. C., Wittenauer, A., & Wilcox, W. (2020) · International Journal of Neonatal Screening

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 30