Carey, John C.
University of Utah · University of Utah Health Care
6 papers on CoChatORCID 0000-0002-6007-8518
Most cited papers
- Verified
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B
Krantz, I. D., McCallum, J., DeScipio, C., Kaur, M., Gillis, L. A., Yaeger, D., Jukofsky, L., Wasserman, N., Bottani, A., Morris, C. A., et al. (2004) · Nature Genetics
Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders
Cited by 713
- Verified
The Spectrum of Mutations in TBX3: Genotype/Phenotype Relationship in Ulnar-Mammary Syndrome
Bamshad, M., Le, T., Watkins, W. S., Dixon, M. E., Kramer, B. E., Roeder, A. D., Carey, J. C., Root, S., Schinzel, A., Van Maldergem, L., et al. (1999) · The American Journal of Human Genetics
Congenital limb and hand anomaliesdental development and anomalies
Cited by 175
- Verified
Deep phenotyping of patients with Tuberous Sclerosis Complex and no mutation identified in TSC1 and TSC2
Peron, A., Vignoli, A., Briola, F. L., Morenghi, E., Tansini, L., Alfano, R. M., Bulfamante, G., Terraneo, S., Ghelma, F., Banderali, G., et al. (2018) · European Journal of Medical Genetics
Tuberous Sclerosis Complex ResearchGenetic and rare skin diseases.
Cited by 36
- Verified
Prevalence and descriptive epidemiology of Turner syndrome in the United States, 2000–2017: a report from the national birth defects prevention network
Martin‐Giacalone, B. A., Lin, A. E., Rasmussen, S. A., Kirby, R. S., Nestoridi, E., Liberman, R. F., Agopian, A. J., Carey, J. C., Cragan, J. D., Forestieri, N., et al. (2023) · American Journal of Medical Genetics Part A
Genetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders
Cited by 28
- Verified
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
- Verified
De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine
Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases
Cited by 13
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