Cutting, Garry R.

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

Sosnay, P. R., Siklosi, K. R., Van Goor, F., Kaniecki, K., Yu, H., Sharma, N., Ramalho, A. S., Amaral, M. D., Dorfman, R., Zielenski, J., et al. (2013) · Nature Genetics

Cystic Fibrosis Research AdvancesGenomics and Rare Diseases

Cited by 630

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

Pejaver, V., Byrne, A. B., Feng, B.-J., Pagel, K. A., Mooney, S. D., Karchin, R., O’Donnell-Luria, A., Harrison, S. M., Tavtigian, S. V., Greenblatt, M. S., et al. (2022) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 589

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

Grody, W. W., Cutting, G. R., Klinger, K. W., Richards, C. S., Watson, M. S., & Desnick, R. J. (2001) · Genetics in Medicine

Cystic Fibrosis Research AdvancesGenomics and Rare Diseases

Cited by 456

ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: Role in diagnosis and clinical correlations

Kemp, S., Pujol, A., Waterham, H. R., van Geel, B. M., Boehm, C. D., Raymond, G. V., Cutting, G. R., Wanders, R. J. A., & Moser, H. W. (2001) · Human Mutation

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 321

Modifier genes in Mendelian disorders: the example of cystic fibrosis

Cutting, G. R. (2010) · Annals of the New York Academy of Sciences

Cystic Fibrosis Research AdvancesGenetic and Kidney Cyst Diseases

Cited by 271

In vivo model of adeno-associated virus vector persistence and rescue

Afione, S. A., Conrad, C. K., Kearns, W. G., Chunduru, S., Adams, R., Reynolds, T. C., Guggino, W. B., Cutting, G. R., Carter, B. J., & Flotte, T. R. (1996) · Journal of Virology

Virus-based gene therapy researchRNA Interference and Gene Delivery

Cited by 223

Accurate DNA-Based Diagnostic and Carrier Testing for X-Linked Adrenoleukodystrophy

Boehm, C. D., Cutting, G. R., Lachtermacher, M. B., Moser, H. W., & Chong, S. S. (1999) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 112

Wearable Potentiometric Chloride Sweat Sensor: The Critical Role of the Salt Bridge

Choi, D.-H., Kim, J. S., Cutting, G. R., & Searson, P. C. (2016) · Analytical Chemistry

Analytical Chemistry and SensorsAdvanced Sensor and Energy Harvesting Materials

Cited by 100

Contiguous deletion of the X‐linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders

Corzo, D., Gibson, W., Johnson, K., Mitchell, G., LePage, G., Cox, G. F., Casey, R., Zeiss, C., Tyson, H., Cutting, G. R., et al. (2002) · The American Journal of Human Genetics

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 85

Sweat test for cystic fibrosis: Wearable sweat sensor vs. standard laboratory test

Choi, D.-H., Thaxton, A., Jeong, I. C., Kim, K., Sosnay, P. R., Cutting, G. R., & Searson, P. C. (2018) · Journal of Cystic Fibrosis

Cystic Fibrosis Research AdvancesAnalytical Chemistry and Sensors

Cited by 80

X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism

Wang, Y., Busin, R., Reeves, C., Bezman, L., Raymond, G., Toomer, C. J., Watkins, P. A., Snowden, A., Moser, A., Naidu, S., et al. (2011) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 58

Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals

Higgins, J., Dalgleish, R., Dunnen, J. T., Barsh, G., Freeman, P. J., Cooper, D. N., Cullinan, S., Davies, K. E., Dorkins, H., Gong, L., et al. (2021) · Human Mutation

Academic Writing and PublishingGenomics and Rare Diseases

Cited by 13