Stockton, David W.

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Girirajan, S., Rosenfeld, J. A., Coe, B. P., Parikh, S., Friedman, N., Goldstein, A., Filipink, R. A., McConnell, J. S., Angle, B., Meschino, W. S., et al. (2012) · New England Journal of Medicine

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 621

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics

Genetic Neurodegenerative DiseasesDNA Repair Mechanisms

Cited by 522

Disruption of oxygen homeostasis underlies congenital Chuvash polycythemia

Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., et al. (2002) · Nature Genetics

Erythropoietin and Anemia TreatmentCancer, Hypoxia, and Metabolism

Cited by 510

A mixed epigenetic/genetic model for oligogenic inheritance of autism with a limited role for UBE3A

Jiang, Y., Sahoo, T., Michaelis, R. C., Bercovich, D., Bressler, J., Kashork, C. D., Liu, Q., Shaffer, L. G., Schroer, R. J., Stockton, D. W., et al. (2004) · American Journal of Medical Genetics Part A

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 159

Endemic Polycythemia in Russia: Mutation in the VHL Gene

Ang, S. O., Chen, H., Gordeuk, V. R., Sergueeva, A. I., Polyakova, L. A., Miasnikova, G. Y., Kralovics, R., Stockton, D. W., & Prchal, J. T. (2002) · Blood Cells, Molecules, and Diseases

Erythropoietin and Anemia TreatmentHemoglobinopathies and Related Disorders

Cited by 135

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Liu, E., Percy, M. J., Amos, C. I., Guan, Y., Shete, S., Stockton, D. W., McMullin, M. F., Polyakova, L. A., Ang, S. O., Pastore, Y. D., et al. (2004) · Blood

Genetic Associations and EpidemiologyForensic and Genetic Research

Cited by 66

A novel Gln358Glu mutation in ectodysplasin A associated with X-linked dominant incisor hypodontia.

Tarpey, P., Pemberton, T. J., Stockton, D. W., Das, P., Ninis, V., Edkins, S., Andrew Futreal, P., Wooster, R., Kamath, S., Nayak, R., et al. (2007) · American Journal of Medical Genetics Part A

dental development and anomaliesBone and Dental Protein Studies

Cited by 51