Kelley, Richard I.

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

Wang, G., McCain, M. L., Yang, L., He, A., Pasqualini, F. S., Agarwal, A., Yuan, H., Jiang, D., Zhang, D., Zangi, L., et al. (2014) · Nature Medicine

Pluripotent Stem Cells ResearchMitochondrial Function and Pathology

Cited by 837

Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies

Michele, D. E., Barresi, R., Kanagawa, M., Saito, F., Cohn, R. D., Satz, J. S., Dollar, J., Nishino, I., Kelley, R. I., Somer, H., et al. (2002) · Nature

Muscle Physiology and DisordersGlycosylation and Glycoproteins Research

Cited by 779

The Smith-Lemli-Opitz syndrome

Kelley, R. I., & Hennekam, R. C. M. (2000) · Journal of Medical Genetics

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 480

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Cooper, M. K., Wassif, C. A., Krakowiak, P. A., Taipale, J., Gong, R., Kelley, R. I., Porter, F. D., & Beachy, P. A. (2003) · Nature Genetics

Hedgehog Signaling Pathway StudiesCholesterol and Lipid Metabolism

Cited by 390

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

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts

Kelley, R. I. (1995) · Clinica Chimica Acta

Metabolism and Genetic DisordersCholesterol and Lipid Metabolism

Cited by 234

Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes

Kelley, R. I., Datta, N. S., Dobyns, W. B., Hajra, A. K., Moser, A. B., Noetzel, M. J., Zackai, E. H., Moser, H. W., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Metabolism and Genetic DisordersGenetic and rare skin diseases.

Cited by 219

Abnormalities of cholesterol metabolism in autism spectrum disorders

Tierney, E., Bukelis, I., Thompson, R. E., Ahmed, K., Aneja, A., Kratz, L., & Kelley, R. I. (2006) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Autism Spectrum Disorder ResearchCholesterol and Lipid Metabolism

Cited by 163

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

Kelley, R. I., Kratz, L. E., Glaser, R. L., Netzloff, M. L., Miller Wolf, L., & Jabs, E. W. (2002) · American Journal of Medical Genetics

Sexual Differentiation and DisordersCraniofacial Disorders and Treatments

Cited by 95

A specific mutation in TBL1XR1 causes Pierpont syndrome

Heinen, C. A., Jongejan, A., Watson, P. J., Redeker, B., Boelen, A., Boudzovitch-Surovtseva, O., Forzano, F., Hordijk, R., Kelley, R., Olney, A. H., et al. (2016) · Journal of Medical Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 73