Grants per year
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Dive into the research topics where David Stockton is active. These topic labels come from the works of this person. Together they form a unique fingerprint.
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Grants
- 5 Finished
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AN Internet based family medical history system
Agency for Healthcare Research and Quality
09/1/07 → 08/31/08
Project: Research
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Internet based family medical history system
Agency for Healthcare Research and Quality
09/1/06 → 08/31/07
Project: Research
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Biallelic Variants in LAMB1 Causing Hydranencephaly: A Severe Phenotype of a Rare Malformative Encephalopathy
Sen, K., Kaur, S., Stockton, D. W., Nyhuis, M. & Roberson, J., Jan 1 2021, In: AJP Reports. 11, 1, p. E26-E28Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
Byrne, B. J., Colan, S. D., Kishnani, P. S., Foster, M. C., Sparks, S. E., Gibson, J. B., An Haack, K., Stockton, D. W., Peña, L. D. M., Hahn, S. H., Johnson, J., Tanpaiboon, P. X., Leslie, N. D., Kronn, D., Hillman, R. E. & Wang, R. Y., 2021, (Accepted/In press) In: Cardiology in the Young.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion
Hutchins, K., Rajpurkar, M., Stockton, D. W. & Callaghan, M. U., Jan 2021, In: Haemophilia. 27, 1, p. e127-e128Research output: Contribution to journal › Letter › peer-review
1 Scopus citations -
Management of COVID-19 infection in organic acidemias
Kaur, S., Campbell, S. L. & Stockton, D. W., Jun 2021, In: American Journal of Medical Genetics, Part A. 185, 6, p. 1854-1857 4 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Koczkowska, M., Callens, T., Chen, Y., Gomes, A., Hicks, A. D., Sharp, A., Johns, E., Uhas, K. A., Armstrong, L., Bosanko, K. A., Babovic-Vuksanovic, D., Baker, L., Basel, D. G., Bengala, M., Bennett, J. T., Chambers, C., Clarkson, L. K., Clementi, M., Cortés, F. M., Cunningham, M. & 88 others, , Jan 1 2020, In: Human Mutation. 41, 1, p. 299-315 17 p.Research output: Contribution to journal › Article › peer-review
Open Access40 Scopus citations -
Erratum: Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice (Human Molecular Genetics (2013) 22 (1026-1038) DOI: 10.1093/hmg/dds507)
Beck, T. F., Veenma, D., Shchelochkov, O. A., Yu, Z., Kim, B. J., Zaveri, H. P., Van Bever, Y., Choi, S., Douben, H., Bertin, T. K., Patel, P. I., Lee, B., Tibboel, D., De Klein, A., Stockton, D. W., Justice, M. J. & Scott, D. A., Apr 15 2020, In: Human Molecular Genetics. 29, 6, p. 1054 1 p.Research output: Contribution to journal › Comment/debate
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Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
Stockton, D. W., Kishnani, P., van der Ploeg, A., Llerena, J., Boentert, M., Roberts, M., Byrne, B. J., Araujo, R., Maruti, S. S., Thibault, N., Verhulst, K. & Berger, K. I., Oct 1 2020, In: Journal of Neurology. 267, 10, p. 3038-3053 16 p.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Thrombotic risk in congenital erythrocytosis due to up-regulated hypoxia sensing is not associated with elevated hematocrit
Gordeuk, V. R., Miasnikova, G. Y., Sergueeva, A. I., Lorenzo, F. R., Zhang, X., Song, J., Stockton, D. W. & Prchal, J. T., Mar 1 2020, In: Haematologica. 105, 3, p. E87-E90Research output: Contribution to journal › Letter › peer-review
Open Access7 Scopus citations -
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease
on behalf of the Pompe ADVANCE Study Consortium, Nov 1 2019, In: Genetics in Medicine. 21, 11, p. 2543-2551 9 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Can functional polymorphisms in VEGF and MMP predict intraventricular hemorrhage in extremely preterm newborns?
Prasun, P., Madan, R., Puthuraya, S., Subramanian, D., Datta, I., Kalra, V., Thomas, R., Stockton, D. W., Sundaram, S., Callaghan, J., Callaghan, M. & Chouthai, N., Dec 1 2018, In: Developmental Neuroscience. 40, 4, p. 337-343 7 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
on behalf of the Pompe ADVANCE Study Consortium, Oct 1 2018, In: Genetics in Medicine. 20, 10, p. 1284-1294 11 p.Research output: Contribution to journal › Article › peer-review
Open Access9 Scopus citations -
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848
Koczkowska, M., Chen, Y., Callens, T., Gomes, A., Sharp, A., Johnson, S., Hsiao, M. C., Chen, Z., Balasubramanian, M., Barnett, C. P., Becker, T. A., Ben-Shachar, S., Bertola, D. R., Blakeley, J. O., Burkitt-Wright, E. M. M., Callaway, A., Crenshaw, M., Cunha, K. S., Cunningham, M., D'Agostino, M. D. & 55 others, , Jan 4 2018, In: American Journal of Human Genetics. 102, 1, p. 69-87 19 p.Research output: Contribution to journal › Article › peer-review
Open Access87 Scopus citations