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Page 1
Therapies Used by Children With Primary Ciliary Dyskinesia: A Natural History Study.
Gardner RA, Ferkol TW, Davis SD, Rosenfeld M, Sagel SD, Dell SD, Milla CE, Li L, Lin FC, Sullivan KM, Zariwala MA, Knowles MR, Leigh MW; Genetic Disorders of Mucociliary Clearance Consortium. Gardner RA, et al. Among authors: dell sd. Pediatr Pulmonol. 2025 Jan;60(1):e27412. doi: 10.1002/ppul.27412. Epub 2024 Nov 22. Pediatr Pulmonol. 2025. PMID: 39575633
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Comparison of Longitudinal Outcomes in Children with Primary Ciliary Dyskinesia and Cystic Fibrosis.
Kinghorn B, Rosenfeld M, Sullivan E, Onchiri FM, Brown MD, Szczesniak R, Ferkol TW, Sagel SD, Dell SD, Milla C, Shapiro AJ, Sullivan KM, Zariwala MA, Pittman JE, Knowles MR, Davis SD, Leigh MW. Kinghorn B, et al. Among authors: dell sd. Ann Am Thorac Soc. 2024 Dec;21(12):1723-1732. doi: 10.1513/AnnalsATS.202311-1008OC. Ann Am Thorac Soc. 2024. PMID: 39383539
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
Estimates of primary ciliary dyskinesia prevalence: a scoping review.
Wee WB, Gatt D, Seidl E, Santyr G, To T, Dell SD. Wee WB, et al. Among authors: dell sd. ERJ Open Res. 2024 Aug 5;10(4):00989-2023. doi: 10.1183/23120541.00989-2023. eCollection 2024 Jul. ERJ Open Res. 2024. PMID: 39104959 Free PMC article.
249 results