Muzny, Donna M.

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

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Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Schaaf, C. P., Sabo, A., Sakai, Y., Crosby, J., Muzny, D., Hawes, A., Lewis, L., Akbar, H., Varghese, R., Boerwinkle, E., et al. (2011) · Human Molecular Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

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Comprehensive pan-genomic characterization of adrenocortical carcinoma

Zheng, S., Cherniack, A. D., Dewal, N., Moffitt, R. A., Danilova, L., Murray, B. A., Lerario, A. M., Else, T., Knijnenburg, T. A., Ciriello, G., et al. (2016) · Cancer Cell

Adrenal and Paraganglionic TumorsChromatin Remodeling and Cancer

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A combined risk score enhances prediction of type 1 diabetes among susceptible children

Ferrat, L. A., Vehik, K., Sharp, S. A., Lernmark, Å., Rewers, M. J., She, J.-X., Ziegler, A.-G., Toppari, J., Akolkar, B., Krischer, J. P., et al. (2020) · Nature Medicine

Diabetes and associated disordersDiabetes Management and Research

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

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Chemistry-First Approach for Nomination of Personalized Treatment in Lung Cancer

McMillan, E. A., Ryu, M.-J., Diep, C. H., Mendiratta, S., Clemenceau, J. R., Vaden, R. M., Kim, J.-H., Motoyaji, T., Covington, K. R., Peyton, M., et al. (2018) · Cell

Computational Drug Discovery MethodsLung Cancer Treatments and Mutations

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Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Liu, L., Sabo, A., Neale, B. M., Nagaswamy, U., Stevens, C., Lim, E., Bodea, C. A., Muzny, D., Reid, J. G., Banks, E., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

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Genetics of schizophrenia in the South African Xhosa

Gulsuner, S., Stein, D. J., Susser, E. S., Sibeko, G., Pretorius, A., Walsh, T., Majara, L., Mndini, M. M., Mqulwana, S. G., Ntola, O. A., et al. (2020) · Science

Schizophrenia research and treatmentGenetic Associations and Epidemiology

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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Cook, S. A., Comrie, W. A., Poli, M. C., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Vargas-Hernández, A., Carisey, A. F., et al. (2020) · Science

Immunodeficiency and Autoimmune DisordersPI3K/AKT/mTOR signaling in cancer

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Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease

Katz, D. H., Tahir, U. A., Bick, A. G., Pampana, A., Ngo, D., Benson, M. D., Yu, Z., Robbins, J. M., Chen, Z.-Z., Cruz, D. E., et al. (2022) · Circulation

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

Polfus, L. M., Khajuria, R. K., Schick, U. M., Pankratz, N., Pazoki, R., Brody, J. A., Chen, M.-H., Auer, P. L., Floyd, J. S., Huang, J., et al. (2016) · The American Journal of Human Genetics

Platelet Disorders and TreatmentsGenetic Associations and Epidemiology

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New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Xie, Y. (., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., et al. (2014) · Human Molecular Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

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Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

Behera, S., Belyeu, J. R., Chen, X., Paulin, L. F., Nguyen, N. Q. H., Newman, E., Mahmoud, M., Menon, V. K., Qi, Q., Joshi, P., et al. (2023) · BMC Medical Genomics

Lipoproteins and Cardiovascular HealthGenomic variations and chromosomal abnormalities

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Rare variants in SLC5A10 are associated with serum 1,5-anhydroglucitol (1,5-AG) in the Atherosclerosis Risk in Communities (ARIC) Study

Loomis, S. J., Köttgen, A., Li, M., Tin, A., Coresh, J., Boerwinkle, E., Gibbs, R., Muzny, D., Pankow, J., Selvin, E., et al. (2019) · Scientific Reports

Genetic Associations and EpidemiologyGenomics and Rare Diseases

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Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study

Mangum, R., Reuther, J., Sen Baksi, K., Gandhi, I., Zabriskie, R. C., Recinos, A., Raesz-Martinez, R., Lin, F. Y., Potter, S. L., Sher, A. C., et al. (2023) · Pediatric Hematology and Oncology

Cancer Genomics and DiagnosticsGlioma Diagnosis and Treatment

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Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Comrie, W. A., Poli, M. C., Cook, S. A., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Carisey, A. F., Fournier, B., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

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