Nickerson, Deborah A.

Association of Polymorphisms in the CRP Gene With Circulating C-Reactive Protein Levels and Cardiovascular Events

Lange, L. A., Carlson, C. S., Hindorff, L. A., Lange, E. M., Walston, J., Durda, J. P., Cushman, M., Bis, J. C., Zeng, D., Lin, D., et al. (2006) · JAMA

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 266

Toll-like Receptor 1 Polymorphisms Affect Innate Immune Responses and Outcomes in Sepsis

Wurfel, M. M., Gordon, A. C., Holden, T. D., Radella, F., Strout, J., Kajikawa, O., Ruzinski, J. T., Rona, G., Black, A. R., Stratton, S., et al. (2008) · American Journal of Respiratory and Critical Care Medicine

Immune Response and InflammationSepsis Diagnosis and Treatment

Cited by 244

A statin-dependent QTL for GATM expression is associated with statin-induced myopathy

Mangravite, L. M., Engelhardt, B. E., Medina, M. W., Smith, J. D., Brown, C. D., Chasman, D. I., Mecham, B. H., Howie, B., Shim, H., Naidoo, D., et al. (2013) · Nature

Lipoproteins and Cardiovascular HealthGenetic Associations and Epidemiology

Cited by 224

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

Van Driest, S. L., Wells, Q. S., Stallings, S., Bush, W. S., Gordon, A., Nickerson, D. A., Kim, J. H., Crosslin, D. R., Jarvik, G. P., Carrell, D. S., et al. (2016) · JAMA

Cardiac electrophysiology and arrhythmiasGenomics and Rare Diseases

Cited by 170

Altered splicing of ATP6AP2 causes X-linked parkinsonism with spasticity (XPDS)

Korvatska, O., Strand, N. S., Berndt, J. D., Strovas, T., Chen, D.-H., Leverenz, J. B., Kiianitsa, K., Mata, I. F., Karakoc, E., Greenup, J. L., et al. (2013) · Human Molecular Genetics

Parkinson's Disease Mechanisms and TreatmentsRNA Research and Splicing

Cited by 140

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

Mefford, H. C., Cooper, G. M., Zerr, T., Smith, J. D., Baker, C., Shafer, N., Thorland, E. C., Skinner, C., Schwartz, C. E., Nickerson, D. A., et al. (2009) · Genome Research

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 132

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics

Complement system in diseasesOral microbiology and periodontitis research

Cited by 123

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study

Morales, A., Kinnamon, D. D., Jordan, E., Platt, J., Vatta, M., Dorschner, M. O., Starkey, C. A., Mead, J. O., Ai, T., Burke, W., et al. (2020) · Circulation: Genomic and Precision Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 114

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

Cited by 92

Desmoplakin variants are associated with idiopathic pulmonary fibrosis

Mathai, S. K., Pedersen, B. S., Smith, K., Russell, P., Schwarz, M. I., Brown, K. K., Steele, M. P., Loyd, J. E., Crapo, J. D., Silverman, E. K., et al. (2016) · American Journal of Respiratory and Critical Care Medicine

Interstitial Lung Diseases and Idiopathic Pulmonary FibrosisOccupational and environmental lung diseases

Cited by 89

Polymorphisms of the IL1-Receptor Antagonist Gene ( IL1RN ) Are Associated With Multiple Markers of Systemic Inflammation

Reiner, A. P., Wurfel, M. M., Lange, L. A., Carlson, C. S., Nord, A. S., Carty, C. L., Rieder, M. J., Desmarais, C., Jenny, N. S., Iribarren, C., et al. (2008) · Arteriosclerosis, Thrombosis, and Vascular Biology

Genetic Associations and EpidemiologyInflammasome and immune disorders

Cited by 85

Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome

Latour, B. L., Van De Weghe, J. C., Rusterholz, T. D. S., Letteboer, S. J. F., Gomez, A., Shaheen, R., Gesemann, M., Karamzade, A., Asadollahi, M., Barroso-Gil, M., et al. (2020) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 76

Adenylate cyclase 1 (ADCY1) mutations cause recessive hearing impairment in humans and defects in hair cell function and hearing in zebrafish

Santos-Cortez, R. L. P., Lee, K., Giese, A. P., Ansar, M., Amin-Ud-Din, M., Rehn, K., Wang, X., Aziz, A., Chiu, I., Hussain Ali, R., et al. (2014) · Human Molecular Genetics

Hearing, Cochlea, Tinnitus, GeneticsCongenital Ear and Nasal Anomalies

Cited by 58

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Kobren, S. N., Baldridge, D., Velinder, M., Krier, J. B., LeBlanc, K., Esteves, C., Pusey, B. N., Züchner, S., Blue, E., Lee, H., et al. (2021) · Genetics in Medicine

Genomics and Rare DiseasesGenomics and Phylogenetic Studies

Cited by 27

DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype

Srichomkwun, P., Takamatsu, J., University of Washington Center for Mendelian Genomics, Nickerson, D. A., Bamshad, M. J., Chong, J. X., & Refetoff, S. (2017) · Thyroid

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 25

Structural variation across 138,134 samples in the TOPMed consortium

Jun, G., English, A., Metcalf, G., Yang, J., Chaisson, M., Pankratz, N., Menon, V., Salerno, W., Krasheninina, O., Smith, A., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory)

Genomic variations and chromosomal abnormalitiesGenetic Associations and Epidemiology

Cited by 24

The Human Genome Project: creating an infrastructure for biology and medicine

Yager, T. D., Nickerson, D. A., & Hood, L. E. (1991) · Trends in Biochemical Sciences

Interdisciplinary Research and CollaborationScience, Research, and Medicine

Cited by 22

Soluble Urokinase Plasminogen Activator Receptor: Genetic Variation and Cardiovascular Disease Risk in Black Adults

Olson, N. C., Raffield, L. M., Moxley, A. H., Miller-Fleming, T. W., Auer, P. L., Franceschini, N., Ngo, D., Thornton, T. A., Lange, E. M., Li, Y., et al. (2021) · Circulation: Genomic and Precision Medicine

Genetic Associations and EpidemiologyBlood Coagulation and Thrombosis Mechanisms

Cited by 16

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

O'Roak, B. J., Deriziotis, P., Lee, C., Vives, L., Schwartz, J. J., Girirajan, S., Karakoc, E., MacKenzie, A. P., Ng, S. B., Baker, C., et al. (2012) · Nature Genetics

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 15