Opitz, John M.

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

Lupiáñez, D. G., Kraft, K., Heinrich, V., Krawitz, P., Brancati, F., Klopocki, E., Horn, D., Kayserili, H., Opitz, J. M., Laxova, R., et al. (2015) · Cell

Genomics and Chromatin DynamicsGenomic variations and chromosomal abnormalities

Cited by 2,132

International nosology of heritable disorders of connective tissue, Berlin, 1986

Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics

Connective tissue disorders researchGenomics and Rare Diseases

Cited by 732

A newly recognized syndromeof multiple congenital anomalies

Smith, D. W., Lemli, L., & Opitz, J. M. (1964) · The Journal of Pediatrics

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 650

The cardiofaciocutaneous syndrome

Roberts, A., Allanson, J., Jadico, S. K., Kavamura, M. I., Noonan, J., Opitz, J. M., Young, T., & Neri, G. (2006) · Journal of Medical Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 271

An analysis of autism in fifty males with the fragile X syndrome

Hagerman, R. J., Jackson, A. W., Levitas, A., Rimland, B., Braden, M., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 238

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

The effect of Mendelian disease on human health: A measurement

Costa, T., Scriver, C. R., Childs, B., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 137

Neuropathology of Rett syndrome

Jellinger, K., Seitelberger, F., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 115

Nonsalt-losing congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function

Pang, S., Levine, L. S., Stoner, E., Opitz, J. M., Pollack, M. S., Dupont, B., & New, M. I. (1983) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 112

Studies of malformation syndromes of man XIB: The cerebro-hepato-renal syndrome of Zellweger: Comparative pathology

Gilchrist, K. W., Gilbert, E. F., Goldfarb, S., Goll, U., Spranger, J. W., & Opitz, J. M. (1976) · European Journal of Pediatrics

Metabolism and Genetic DisordersFetal and Pediatric Neurological Disorders

Cited by 62

Psychiatric disability associated with the fragile X chromosome

Reiss, A. L., Feinstein, C., Goldsmith, K. E. T. B., Rosenbaum, K., Caruso, M. A., Opitz, J. M., & Reynolds, J. F. (1986) · American Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 52

Muscular dystrophy in Saskatchewan Hutterites

Shokeir, M. H. K., Rozdilsky, B., Opitz, J. M., & Reynolds, J. F. (1985) · American Journal of Medical Genetics

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 21