Nussbaum, Robert L.

Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease

Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 8,240

The International HapMap Project

†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 6,057

α-Synuclein Locus Triplication Causes Parkinson's Disease

Singleton, A. B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R., et al. (2003) · Science

Parkinson's Disease Mechanisms and TreatmentsAutophagy in Disease and Therapy

Cited by 4,383

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 3,481

ClinGen — The Clinical Genome Resource

Rehm, H. L., Berg, J. S., Brooks, L. D., Bustamante, C. D., Evans, J. P., Landrum, M. J., Ledbetter, D. H., Maglott, D. R., Martin, C. L., Nussbaum, R. L., et al. (2015) · New England Journal of Medicine

Genomics and Rare DiseasesCardiomyopathy and Myosin Studies

Cited by 1,496

Alzheimer's Disease and Parkinson's Disease

Nussbaum, R. L., & Ellis, C. E. (2003) · New England Journal of Medicine

Alzheimer's disease research and treatmentsDementia and Cognitive Impairment Research

Cited by 1,351

Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking α-Synuclein

Cabin, D. E., Shimazu, K., Murphy, D., Cole, N. B., Gottschalk, W., McIlwain, K. L., Orrison, B., Chen, A., Ellis, C. E., Paylor, R., et al. (2002) · The Journal of Neuroscience

Parkinson's Disease Mechanisms and TreatmentsNeuroscience and Neuropharmacology Research

Cited by 865

Mapping of a gene for Parkinson's disease to chromosome 4q21-q23

Polymeropoulos, M. H., Higgins, J. J., Golbe, L. I., Johnson, W. G., Ide, S. E., Di Iorio, G., Sanges, G., Stenroos, E. S., Pho, L. T., Schaffer, A. A., et al. (1996) · Science

Parkinson's Disease Mechanisms and TreatmentsGenetic Associations and Epidemiology

Cited by 788

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein.

Siomi, H., Siomi, M. C., Nussbaum, R. L., & Dreyfuss, G. (1993) · Cell

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 641

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework

Tavtigian, S. V., Greenblatt, M. S., Harrison, S. M., Nussbaum, R. L., Prabhu, S. A., Boucher, K. M., & Biesecker, L. G. (2018) · Genetics in Medicine

Genomics and Rare DiseasesBRCA gene mutations in cancer

Cited by 590

DLB and PDD boundary issues: Diagnosis, treatment, molecular pathology, and biomarkers

Lippa, C. F., Duda, J. E., Grossman, M., Hurtig, H. I., Aarsland, D., Boeve, B. F., Brooks, D. J., Dickson, D. W., Dubois, B., Emre, M., et al. (2007) · Neurology

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 548

Association of Type and Location of BRCA1 and BRCA2 Mutations With Risk of Breast and Ovarian Cancer

Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., et al. (2015) · JAMA

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

Cited by 521

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

Meyer-Lindenberg, A., Kohn, P. D., Kolachana, B., Kippenhan, S., McInerney-Leo, A., Nussbaum, R., Weinberger, D. R., & Berman, K. F. (2005) · Nature Neuroscience

Neurotransmitter Receptor Influence on BehaviorNeural and Behavioral Psychology Studies

Cited by 428

Ascorbic-acid transporter Slc23a1 is essential for vitamin C transport into the brain and for perinatal survival

Sotiriou, S., Gispert, S., Cheng, J., Wang, Y., Chen, A., Hoogstraten-Miller, S., Miller, G. F., Kwon, O., Levine, M., Guttentag, S. H., et al. (2002) · Nature Medicine

Vitamin C and Antioxidants ResearchAmino Acid Enzymes and Metabolism

Cited by 367

Identification of six new susceptibility loci for invasive epithelial ovarian cancer

EMBRACE, Kuchenbaecker, K. B., Collaborators, G. S., Breast Cancer Family Registry, HEBON, KConFab Investigators, Australian Cancer Study (Ovarian Cancer Investigators), Australian Ovarian Cancer Study Group, the Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Ramus, S. J., et al. (2015) · Nature Genetics

BRCA gene mutations in cancerOvarian cancer diagnosis and treatment

Cited by 250

α-Synuclein in gut endocrine cells and its implications for Parkinson’s disease

Chandra, R., Hiniker, A., Kuo, Y.-M., Nussbaum, R. L., & Liddle, R. A. (2017) · JCI Insight

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 236

A framework for exhaustively mapping functional missense variants

Weile, J., Sun, S., Cote, A. G., Knapp, J., Verby, M., Mellor, J. C., Wu, Y., Pons, C., Wong, C., van Lieshout, N., et al. (2017) · Molecular Systems Biology

Genomics and Rare DiseasesCRISPR and Genetic Engineering

Cited by 187

Vitamin C transporter Slc23a1 links renal reabsorption, vitamin C tissue accumulation, and perinatal survival in mice

Corpe, C. P., Tu, H., Eck, P., Wang, J., Faulhaber-Walter, R., Schnermann, J., Margolis, S., Padayatty, S., Sun, H., Wang, Y., et al. (2010) · Journal of Clinical Investigation

Vitamin C and Antioxidants ResearchIron Metabolism and Disorders

Cited by 162

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170

EMBRACE, Dunning, A. M., Collaborators, G. S., HEBON, kConFab Investigators, Michailidou, K., Kuchenbaecker, K. B., Thompson, D., French, J. D., Beesley, J., et al. (2016) · Nature Genetics

Genetic Associations and EpidemiologyEstrogen and related hormone effects

Cited by 161

Research on the Premotor Symptoms of Parkinson’s Disease: Clinical and Etiological Implications

Chen, H., Burton, E. A., Ross, G. W., Huang, X., Savica, R., Abbott, R. D., Ascherio, A., Caviness, J. N., Gao, X., Gray, K. A., et al. (2013) · Environmental Health Perspectives

Parkinson's Disease Mechanisms and TreatmentsDementia and Cognitive Impairment Research

Cited by 83

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32, 295 women

EMBRACE, Rebbeck, T. R., HEBON, Friebel, T. M., Mitra, N., Wan, F., Chen, S., Andrulis, I. L., Apostolou, P., Arnold, N., et al. (2016) · Breast Cancer Research

BRCA gene mutations in cancerMultiple and Secondary Primary Cancers

Cited by 71