Parker S - Search Results

1

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, Brookes AJ, Brudno M, Carracedo A, den Dunnen JT, Dyke SOM, Estivill X, Goldblatt J, Gonthier C, Groft SC, Gut I, Hamosh A, Hieter P, Höhn S, Hurles ME, Kaufmann P, Knoppers BM, Krischer JP, Macek M Jr, Matthijs G, Olry A, Parker S, Paschall J, Philippakis AA, Rehm HL, Robinson PN, Sham PC, Stefanov R, Taruscio D, Unni D, Vanstone MR, Zhang F, Brunner H, Bamshad MJ, Lochmüller H. Boycott KM, et al. Among authors: parker s. Am J Hum Genet. 2017 May 4;100(5):695-705. doi: 10.1016/j.ajhg.2017.04.003. Am J Hum Genet. 2017. PMID: 28475856 Free PMC article.

2

The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.

Parker S. Parker S. Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv9-14. doi: 10.1093/ndt/gfu094. Nephrol Dial Transplant. 2014. PMID: 25165190 Review.

3

Adeno-Associated Virus-Based Gene Therapy for CNS Diseases.

Hocquemiller M, Giersch L, Audrain M, Parker S, Cartier N. Hocquemiller M, et al. Among authors: parker s. Hum Gene Ther. 2016 Jul;27(7):478-96. doi: 10.1089/hum.2016.087. Hum Gene Ther. 2016. PMID: 27267688 Free PMC article. Review.

4

Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach.

Lanar S, Parker S, O'Neill C, Marrel A, Arnould B, Héron B, Muschol N, Wijburg FA, Chakrapani A, Olivier S, Aiach K. Lanar S, et al. Among authors: parker s. Orphanet J Rare Dis. 2022 Feb 22;17(1):75. doi: 10.1186/s13023-022-02208-w. Orphanet J Rare Dis. 2022. PMID: 35193633 Free PMC article.

5

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

Wijburg FA, Aiach K, Chakrapani A, Eisengart JB, Giugliani R, Héron B, Muschol N, O'Neill C, Olivier S, Parker S. Wijburg FA, et al. Among authors: parker s. Mol Genet Metab. 2022 Feb;135(2):133-142. doi: 10.1016/j.ymgme.2021.12.002. Epub 2021 Dec 10. Mol Genet Metab. 2022. PMID: 34991944 Free article.

6

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III.

Ghosh A, Shapiro E, Rust S, Delaney K, Parker S, Shaywitz AJ, Morte A, Bubb G, Cleary M, Bo T, Lavery C, Bigger BW, Jones SA. Ghosh A, et al. Among authors: parker s. Orphanet J Rare Dis. 2017 Jun 26;12(1):117. doi: 10.1186/s13023-017-0675-4. Orphanet J Rare Dis. 2017. PMID: 28651568 Free PMC article.

7

Parent Experiences of Sanfilippo Syndrome Impact and Unmet Treatment Needs: A Qualitative Assessment.

Porter KA, O'Neill C, Drake E, Parker S, Escolar ML, Montgomery S, Moon W, Worrall C, Peay HL. Porter KA, et al. Among authors: parker s. Neurol Ther. 2021 Jun;10(1):197-212. doi: 10.1007/s40120-020-00226-z. Epub 2020 Dec 2. Neurol Ther. 2021. PMID: 33263924 Free PMC article.

8

Differentiation between descending thoracic aortic diseases using machine learning and plasma proteomic signatures.

Momenzadeh A, Kreimer S, Guo D, Ayres M, Berman D, Chyu KY, Shah PK, Milewicz D, Azizzadeh A, Meyer JG, Parker S. Momenzadeh A, et al. Among authors: parker s. Clin Proteomics. 2024 Jun 2;21(1):38. doi: 10.1186/s12014-024-09487-4. Clin Proteomics. 2024. PMID: 38825704 Free PMC article.

9

Morbidity amongst South African Hajj pilgrims in 2023-a retrospective cohort study.

Mahomed O, Jaffer MN, Parker S. Mahomed O, et al. Among authors: parker s. Sci Rep. 2024 Jun 1;14(1):12622. doi: 10.1038/s41598-024-62682-z. Sci Rep. 2024. PMID: 38824134 Free PMC article.

10

Mariner: Explore the Hi-Cs.

Davis ES, Parker SM, Kramer NE, Flores JP, Kiran M, Phanstiel DH. Davis ES, et al. Among authors: parker sm. Bioinformatics. 2024 May 30:btae352. doi: 10.1093/bioinformatics/btae352. Online ahead of print. Bioinformatics. 2024. PMID: 38814811

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