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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G. MacCarrick G, et al. Among authors: poll s. Am J Med Genet A. 2024 May 3:e63646. doi: 10.1002/ajmg.a.63646. Online ahead of print. Am J Med Genet A. 2024. PMID: 38702915
[No title available]
[No authors listed] [No authors listed] PMID: 37978112
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome.
Poll SR, Martin R, Wohler E, Partan ES, Walek E, Salman S, Groepper D, Kratz L, Cernach M, Jesus-Garcia R, Haldeman-Englert C, Choi YJ, Morris CD, Cohen B, Hoover-Fong J, Valle D, Semenza GL, Sobreira NLM. Poll SR, et al. PLoS Genet. 2022 Dec 8;18(12):e1010504. doi: 10.1371/journal.pgen.1010504. eCollection 2022 Dec. PLoS Genet. 2022. PMID: 36480544 Free PMC article.
42 results