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Pathogenic Variants in CHEK2 Are Associated With an Adverse Prognosis in Symptomatic Early-Onset Breast Cancer.
Greville-Heygate SL, Maishman T, Tapper WJ, Cutress RI, Copson E, Dunning AM, Haywood L, Jones LJ, Eccles DM. Greville-Heygate SL, et al. Among authors: jones lj. JCO Precis Oncol. 2020 May 4;4:PO.19.00178. doi: 10.1200/PO.19.00178. eCollection 2020. JCO Precis Oncol. 2020. PMID: 32923877
Characterization of four subtypes in morphologically normal tissue excised proximal and distal to breast cancer.
Gadaleta E, Fourgoux P, Pirró S, Thorn GJ, Nelan R, Ironside A, Rajeeve V, Cutillas PR, Lobley AE, Wang J, Gea E, Ross-Adams H, Bessant C, Lemoine NR, Jones LJ, Chelala C. Gadaleta E, et al. Among authors: jones lj. NPJ Breast Cancer. 2020 Aug 21;6:38. doi: 10.1038/s41523-020-00182-9. eCollection 2020. NPJ Breast Cancer. 2020. PMID: 32885042 Free PMC article.
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degeneration.
Vig A, Poulter JA, Ottaviani D, Tavares E, Toropova K, Tracewska AM, Mollica A, Kang J, Kehelwathugoda O, Paton T, Maynes JT, Wheway G, Arno G; Genomics England Research Consortium, Khan KN, McKibbin M, Toomes C, Ali M, Di Scipio M, Li S, Ellingford J, Black G, Webster A, Rydzanicz M, Stawiński P, Płoski R, Vincent A, Cheetham ME, Inglehearn CF, Roberts A, Heon E. Vig A, et al. Genet Med. 2020 Aug 5. doi: 10.1038/s41436-020-0915-1. Online ahead of print. Genet Med. 2020. PMID: 32753734 Free article.
Impact of a Fruit and Vegetable Prescription Program on Health Outcomes and Behaviors in Young Navajo Children.
Jones LJ, VanWassenhove-Paetzold J, Thomas K, Bancroft C, Ziatyk EQ, Kim LS, Shirley A, Warren AC, Hamilton L, George CV, Begay MG, Wilmot T, Tsosie M, Ellis E, Selig SM, Gall G, Shin SS. Jones LJ, et al. Curr Dev Nutr. 2020 Jul 21;4(8):nzaa109. doi: 10.1093/cdn/nzaa109. eCollection 2020 Aug. Curr Dev Nutr. 2020. PMID: 32734135
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.
Freeman TM; Genomics England Research Consortium, Wang D, Harris J. Freeman TM, et al. Genome Res. 2020 Mar;30(3):415-426. doi: 10.1101/gr.255349.119. Epub 2020 Mar 10. Genome Res. 2020. PMID: 32156711 Free PMC article.
Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli.
Pleguezuelos-Manzano C, Puschhof J, Rosendahl Huber A, van Hoeck A, Wood HM, Nomburg J, Gurjao C, Manders F, Dalmasso G, Stege PB, Paganelli FL, Geurts MH, Beumer J, Mizutani T, Miao Y, van der Linden R, van der Elst S; Genomics England Research Consortium, Garcia KC, Top J, Willems RJL, Giannakis M, Bonnet R, Quirke P, Meyerson M, Cuppen E, van Boxtel R, Clevers H. Pleguezuelos-Manzano C, et al. Nature. 2020 Apr;580(7802):269-273. doi: 10.1038/s41586-020-2080-8. Epub 2020 Feb 27. Nature. 2020. PMID: 32106218
Human and mouse essentiality screens as a resource for disease gene discovery.
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D; Genomics England Research Consortium; International Mouse Phenotyping Consortium. Cacheiro P, et al. Nat Commun. 2020 Jan 31;11(1):655. doi: 10.1038/s41467-020-14284-2. Nat Commun. 2020. PMID: 32005800 Free PMC article.
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2.
Hong Y, Nanthapisal S, Omoyinmi E, Olbrich P, Neth O, Speckmann C, Lucena JM, Gilmour K, Worth A; Genomics England Research Consortium, Klein N, Eleftheriou D, Brogan P. Hong Y, et al. Front Immunol. 2019 Nov 11;10:2589. doi: 10.3389/fimmu.2019.02589. eCollection 2019. Front Immunol. 2019. PMID: 31781101 Free PMC article.
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