Grants per year
Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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Collaborations and top research areas from the last five years
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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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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort
Pompe ADVANCE Study Consortium, Mar 23 2022, In: Cardiology in the Young. 32, 3, p. 364-373 10 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort
Duong, T., Kishnani, P. S., An Haack, K., Foster, M. C., Gibson, J. B., Wilson, C., Hahn, S. H., Hillman, R., Kronn, D., Leslie, N. D., Peña, L. D. M., Sparks, S. E., Stockton, D. W., Tanpaiboon, P. & Day, J. W., 2022, In: Journal of neuromuscular diseases. 9, 6, p. 713-730 18 p.Research output: Contribution to journal › Article › peer-review
Open Access -
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 Access3 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
2 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
Open Access5 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 Access70 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
Open Access -
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 Access17 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 Access17 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 Access6 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
5 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 Access15 Scopus citations