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Page 1
Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.
Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E. Maroni MJ, et al. Among authors: innes am. medRxiv [Preprint]. 2024 Nov 2:2024.10.31.24314716. doi: 10.1101/2024.10.31.24314716. medRxiv. 2024. PMID: 39574879 Free PMC article. Preprint.
Classification of variants of reduced penetrance in high-penetrance cancer susceptibility genes: Framework for genetics clinicians and clinical scientists by CanVIG-UK (Cancer Variant Interpretation Group-UK).
Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, Rowlands CF, McVeigh T, Hanson H, Turnbull C; CanVIG-UK. Garrett A, et al. Genet Med. 2024 Oct 24;27(2):101305. doi: 10.1016/j.gim.2024.101305. Online ahead of print. Genet Med. 2024. PMID: 39489894 Free article.
Brain malformations and seizures by impaired chaperonin function of TRiC.
Kraft F, Rodriguez-Aliaga P, Yuan W, Franken L, Zajt K, Hasan D, Lee TT, Flex E, Hentschel A, Innes AM, Zheng B, Julia Suh DS, Knopp C, Lausberg E, Krause J, Zhang X, Trapane P, Carroll R, McClatchey M, Fry AE, Wang L, Giesselmann S, Hoang H, Baldridge D, Silverman GA, Radio FC, Bertini E, Ciolfi A, Blood KA, de Sainte Agathe JM, Charles P, Bergant G, Čuturilo G, Peterlin B, Diderich K, Streff H, Robak L, Oegema R, van Binsbergen E, Herriges J, Saunders CJ, Maier A, Wolking S, Weber Y, Lochmüller H, Meyer S, Aleman A, Polavarapu K, Nicolas G, Goldenberg A, Guyant L, Pope K, Hehmeyer KN, Monaghan KG, Quade A, Smol T, Caumes R, Duerinckx S, Depondt C, Van Paesschen W, Rieubland C, Poloni C, Guipponi M, Arcioni S, Meuwissen M, Jansen AC, Rosenblum J, Haack TB, Bertrand M, Gerstner L, Magg J, Riess O, Schulz JB, Wagner N, Wiesmann M, Weis J, Eggermann T, Begemann M, Roos A, Häusler M, Schedl T, Tartaglia M, Bremer J, Pak SC, Frydman J, Elbracht M, Kurth I. Kraft F, et al. Among authors: innes am. Science. 2024 Nov;386(6721):516-525. doi: 10.1126/science.adp8721. Epub 2024 Oct 31. Science. 2024. PMID: 39480921
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, Liang C, Morales-Rosado JA, Cohen ASA, Hughes SS, Sullivan BR, Waddell V, van den Boogaard MH, van Jaarsveld RH, van Binsbergen E, van Gassen KL, Wang T, Hiatt SM, Amaral MD, Kelley WV, Zhao J, Feng W, Ren C, Yu Y, Boczek NJ, Ferber MJ, Lahner C, Elliott S, Ruan Y, Mignot C, Keren B, Xie H, Wang X, Popp B, Zweier C, Piard J, Coubes C, Mau-Them FT, Safraou H, Innes AM, Gauthier J, Michaud JL, Koboldt DC, Sylvie O, Willems M, Tan WH, Cogne B, Rieubland C, Braun D, McLean SD, Platzer K, Zacher P, Oppermann H, Evenepoel L, Blanc P, El Khattabi L, Haque N, Dsouza NR, Zimmermann MT, Urrutia R, Klee EW, Shen Y, Du H, Rappaport L, Liu CM, Chen X. Gong M, et al. Among authors: innes am. Am J Hum Genet. 2024 Nov 7;111(11):2392-2410. doi: 10.1016/j.ajhg.2024.09.006. Epub 2024 Oct 16. Am J Hum Genet. 2024. PMID: 39419027 Free PMC article.
Active case finding to detect symptomatic and subclinical pulmonary tuberculosis disease: implementation of computer-aided detection for chest radiography in Viet Nam.
Innes AL, Martinez A, Hoang GL, Nguyen TBP, Vu VH, Luu THT, Le TTT, Lebrun V, Trieu VC, Tran NDB, Dinh N, Pham HM, Dinh VL, Nguyen BH, Truong TTH, Nguyen VC, Nguyen VN, Mai TH. Innes AL, et al. Western Pac Surveill Response J. 2024 Oct 12;15(4):1-12. doi: 10.5365/wpsar.2024.15.4.1118. eCollection 2024 Oct-Dec. Western Pac Surveill Response J. 2024. PMID: 39416596 Free PMC article.
Impact of BCR::ABL1 single nucleotide variants on asciminib efficacy.
Innes AJ, Hayden C, Orovboni V, Claudiani S, Fernando F, Khan A, Rees D, Byrne J, Gallipoli P, Francis S, Copland M, Horne G, Raghavan M, Arnold C, Collins A, Cranfield T, Cunningham N, Danga A, Forsyth P, Frewin R, Garland P, Hannah G, Avenoso D, Hassan S, Huntly BJP, Husain J, Makkuni S, Rothwell K, Khorashad J, Apperley JF, Milojkovic D. Innes AJ, et al. Leukemia. 2024 Nov;38(11):2443-2455. doi: 10.1038/s41375-024-02411-7. Epub 2024 Sep 17. Leukemia. 2024. PMID: 39300220 Free PMC article.
The PS4-likelihood ratio calculator: flexible allocation of evidence weighting for case-control data in variant classification.
Rowlands CF, Garrett A, Allen S, Durkie M, Burghel GJ, Robinson R, Callaway A, Field J, Frugtniet B, Palmer-Smith S, Grant J, Pagan J, McDevitt T, McVeigh TP, Hanson H, Whiffin N, Jones M, Turnbull C; CanVIG-UK. Rowlands CF, et al. J Med Genet. 2024 Sep 24;61(10):983-991. doi: 10.1136/jmg-2024-110034. J Med Genet. 2024. PMID: 39227160 Free PMC article.
476 results