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A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF, Smith LD, Kunard CM, Bainbridge M, Batalov S, Benson W, Blincow E, Caylor S, Chambers C, Del Angel G, Dimmock DP, Ding Y, Ellsworth K, Feigenbaum A, Frise E, Green RC, Guidugli L, Hall KP, Hansen C, Hobbs CA, Kahn SD, Kiel M, Van Der Kraan L, Krilow C, Kwon YH, Madhavrao L, Le J, Lefebvre S, Mardach R, Mowrey WR, Oh D, Owen MJ, Powley G, Scharer G, Shelnutt S, Tokita M, Mehtalia SS, Oriol A, Papadopoulos S, Perry J, Rosales E, Sanford E, Schwartz S, Tran D, Reese MG, Wright M, Veeraraghavan N, Wigby K, Willis MJ, Wolen AR, Defay T. Kingsmore SF, et al. Among authors: kiel m. Am J Hum Genet. 2022 Sep 1;109(9):1605-1619. doi: 10.1016/j.ajhg.2022.08.003. Epub 2022 Aug 24. Am J Hum Genet. 2022. PMID: 36007526 Free PMC article. Review.
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y. Sarafrazi S, et al. Hum Mutat. 2022 Feb;43(2):143-157. doi: 10.1002/humu.24296. Epub 2021 Dec 5. Hum Mutat. 2022. PMID: 34806794 Free PMC article.
An estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Kurtovic-Kozaric A, Singer-Berk M, Wood J, Evangelista E, Panwala L, Hope A, Heinrich SM, Baxter S, Kiel MJ. Kurtovic-Kozaric A, et al. Among authors: kiel mj. Orphanet J Rare Dis. 2024 Oct 18;19(1):388. doi: 10.1186/s13023-024-03275-x. Orphanet J Rare Dis. 2024. PMID: 39425167 Free PMC article.
112 results