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Page 1
Comprehensive molecular profiling of multiple myeloma identifies refined copy number and expression subtypes.
Skerget S, Penaherrera D, Chari A, Jagannath S, Siegel DS, Vij R, Orloff G, Jakubowiak A, Niesvizky R, Liles D, Berdeja J, Levy M, Wolf J, Usmani SZ; MMRF CoMMpass Network; Christofferson AW, Nasser S, Aldrich JL, Legendre C, Benard B, Miller C, Turner B, Kurdoglu A, Washington M, Yellapantula V, Adkins JR, Cuyugan L, Boateng M, Helland A, Kyman S, McDonald J, Reiman R, Stephenson K, Tassone E, Blanski A, Livermore B, Kirchhoff M, Rohrer DC, D'Agostino M, Gamella M, Collison K, Stumph J, Kidd P, Donnelly A, Zaugg B, Toone M, McBride K, DeRome M, Rogers J, Craig D, Liang WS, Gutierrez NC, Jewell SD, Carpten J, Anderson KC, Cho HJ, Auclair D, Lonial S, Keats JJ. Skerget S, et al. Among authors: mcbride k. Nat Genet. 2024 Sep;56(9):1878-1889. doi: 10.1038/s41588-024-01853-0. Epub 2024 Aug 19. Nat Genet. 2024. PMID: 39160255 Free PMC article.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. Clark MM, et al. Among authors: mcbride k. Sci Transl Med. 2019 Apr 24;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177. Sci Transl Med. 2019. PMID: 31019026 Free PMC article.
Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve.
DiGregorio H, Mansoorshahi S, Carlisle SG, Tovar Pensa C, Watts A, McNeely C, Sabate-Rotes A, Yetman A, Michelena HI, De Backer JFA, Mosquera LM, Bissell MM, Andreassi MG, Foffa I, Hui DS, Caffarelli A, Kim YY, Citro R, De Marco M, Tretter JT, McBride KL, Body SC, Milewicz DM, Prakash SK; EBAV Investigators. DiGregorio H, et al. Among authors: mcbride kl. Heart. 2024 Dec 10:heartjnl-2024-324669. doi: 10.1136/heartjnl-2024-324669. Online ahead of print. Heart. 2024. PMID: 39658198
Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Smith WE, Berry SA, Bloom K, Brown C, Burton BK, Demarest OM, Jenkins GP, Malinowski J, McBride KL, Mroczkowski HJ, Scharfe C, Vockley J; ACMG Board of Directors. Electronic address: [email protected]. Smith WE, et al. Among authors: mcbride kl. Genet Med. 2025 Jan;27(1):101289. doi: 10.1016/j.gim.2024.101289. Epub 2024 Dec 4. Genet Med. 2025. PMID: 39630157
536 results