Kunkel, Louis M.

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

Hoffman, E. P., Brown, R. H., & Kunkel, L. M. (1987) · Cell

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 4,693

Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals

Koenig, M., Hoffman, E. P., Bertelson, C. J., Monaco, A. P., Feener, C., & Kunkel, L. M. (1987) · Cell

Muscle Physiology and DisordersGenomics and Rare Diseases

Cited by 2,411

Cloning the gene for an inherited human disorder—chronic granulomatous disease—On the basis of its chromosomal location

Royer-Pokora, B., Kunkel, L. M., Monaco, A. P., Goff, S. C., Newburger, P. E., Baehner, R. L., Cole, F. S., Curnutte, J. T., & Orkin, S. H. (1986) · Nature

Neutrophil, Myeloperoxidase and Oxidative MechanismsImmunodeficiency and Autoimmune Disorders

Cited by 833

The Co-Morbidity Burden of Children and Young Adults with Autism Spectrum Disorders

Kohane, I. S., McMurry, A., Weber, G., MacFadden, D., Rappaport, L., Kunkel, L., Bickel, J., Wattanasin, N., Spence, S., Murphy, S., et al. (2012) · PLoS ONE

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

Cited by 562

The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs

Cooper, B. J., Winand, N. J., Stedman, H., Valentine, B. A., Hoffman, E. P., Kunkel, L. M., Scott, M.-O., Fischbeck, K. H., Kornegay, J. N., Avery, R. J., et al. (1988) · Nature

Muscle Physiology and DisordersCardiomyopathy and Myosin Studies

Cited by 428

Effects of RAS on the genesis of embryonal rhabdomyosarcoma

Langenau, D. M., Keefe, M. D., Storer, N. Y., Guyon, J. R., Kutok, J. L., Le, X., Goessling, W., Neuberg, D. S., Kunkel, L. M., & Zon, L. I. (2007) · Genes & Development

Sarcoma Diagnosis and TreatmentCancer Cells and Metastasis

Cited by 320

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

Jabara, H. H., Boyden, S. E., Chou, J., Ramesh, N., Massaad, M. J., Benson, H., Bainter, W., Fraulino, D., Rahimov, F., Sieff, C., et al. (2016) · Nature Genetics

Iron Metabolism and DisordersImmunodeficiency and Autoimmune Disorders

Cited by 279

Comparative RNA editing in autistic and neurotypical cerebella

Eran, A., Li, J. B., Vatalaro, K., McCarthy, J., Rahimov, F., Collins, C., Markianos, K., Margulies, D. M., Brown, E. N., Calvo, S. E., et al. (2013) · Molecular Psychiatry

RNA regulation and diseaseGenetics and Neurodevelopmental Disorders

Cited by 70

Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder

Vardarajan, B. N., Eran, A., Jung, J.-Y., Kunkel, L. M., & Wall, D. P. (2013) · Translational Psychiatry

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 26

Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis

Kong, S. W., Sahin, M., Collins, C. D., Wertz, M. H., Campbell, M. G., Leech, J. D., Krueger, D., Bear, M. F., Kunkel, L. M., & Kohane, I. S. (2014) · Molecular Autism

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 19