Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease.
Malhotra A, Thorpe E, Coffey AJ, Rajkumar R, Adjeman J, Naa Adjeley Adjetey ND, Aglobitse S, Allotey F, Arsov T, Ashong J, Badoe EV, Basel D, Brew Y, Brown C, Bosfield K, Casas K, Cornejo-Olivas M, Davis-Keppen L, Freed A, Gibson K, Jayakar P, Jones MC, Kawome M, Lumaka A, Maier U, Makay P, Manassero G, Marbell-Wilson M, Marcuccilli C, Masser-Frye D, McCarrier J, Mills HS, Montoya JB, Mubungu G, Ngole M, Perez J, Pivnick E, Duenas-Roque MM, Pena Salguero H, Serize A, Shinawi M, Sirchia F, Soler-Alfonso C, Taylor A, Thompson L, Vance G, Vanderver A, Vaux K, Velasco D, Wiafe S; Illumina Laboratory Services Interpretation and Reporting Team; Taft RJ, Perry DL, Kesari A.
Malhotra A, et al. Among authors: arsov t.
HGG Adv. 2025 Apr 7;6(3):100430. doi: 10.1016/j.xhgg.2025.100430. Online ahead of print.
HGG Adv. 2025.
PMID: 40195116
Free PMC article.