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Mutational and splicing landscape in a cohort of 43,000 patients tested for hereditary cancer.
Horton C, Cass A, Conner BR, Hoang L, Zimmermann H, Abualkheir N, Burks D, Qian D, Molparia B, Vuong H, LaDuca H, Grzybowski J, Durda K, Pilarski R, Profato J, Clayback K, Mahoney M, Schroeder C, Torres-Martinez W, Elliott A, Chao EC, Karam R. Horton C, et al. Among authors: abualkheir n. NPJ Genom Med. 2022 Aug 25;7(1):49. doi: 10.1038/s41525-022-00323-y. NPJ Genom Med. 2022. PMID: 36008414 Free PMC article.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A; ENIGMA Consortium; Vreeswijk MPG, de la Hoya M, Spurdle AB. Thomassen M, et al. Among authors: abualkheir n. Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23. Hum Mutat. 2022. PMID: 35979650 Free PMC article.
High-Density Blood Transcriptomics Reveals Precision Immune Signatures of SARS-CoV-2 Infection in Hospitalized Individuals.
Prokop JW, Hartog NL, Chesla D, Faber W, Love CP, Karam R, Abualkheir N, Feldmann B, Teng L, McBride T, Leimanis ML, English BK, Holsworth A, Frisch A, Bauss J, Kalpage N, Derbedrossian A, Pinti RM, Hale N, Mills J, Eby A, VanSickle EA, Pageau SC, Shankar R, Chen B, Carcillo JA, Sanfilippo D, Olivero R, Bupp CP, Rajasekaran S. Prokop JW, et al. Among authors: abualkheir n. Front Immunol. 2021 Jul 16;12:694243. doi: 10.3389/fimmu.2021.694243. eCollection 2021. Front Immunol. 2021. PMID: 34335605 Free PMC article.