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1.	Niemi, MEK, et al. (author) 2021 swepub:Mat__t
2.	Kanai, M, et al. (author) 2023 swepub:Mat__t
3.	Fox, Z, et al. (author) Predictors of CD4 count change over 8 months of follow up in HIV-1-infected patients with a CD4 count>or=300 cells/microL who were assigned to 7.5 MIU interleukin-2 2007 In: HIV medicine. - : Wiley. - 1464-2662 .- 1468-1293. ; 8:2, s. 112-123 Journal article (peer-reviewed)
4.	Fachal, L, et al. (author) Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes 2020 In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 52:1, s. 56-73 Journal article (peer-reviewed)
5.	Lawrenson, Kate, et al. (author) Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus 2016 In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 7 Journal article (peer-reviewed)abstract A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify 13 candidate causal SNPs associated with serous OC (P=9.2 × 10-20), ER-negative BC (P=1.1 × 10-13), BRCA1-associated BC (P=7.7 × 10-16) and triple negative BC (P-diff=2 × 10-5). Genotype-gene expression associations are identified for candidate target genes ANKLE1 (P=2 × 10-3) and ABHD8 (P<2 × 10-3). Chromosome conformation capture identifies interactions between four candidate SNPs and ABHD8, and luciferase assays indicate six risk alleles increased transactivation of the ADHD8 promoter. Targeted deletion of a region containing risk SNP rs56069439 in a putative enhancer induces ANKLE1 downregulation; and mRNA stability assays indicate functional effects for an ANKLE1 3′-UTR SNP. Altogether, these data suggest that multiple SNPs at 19p13 regulate ABHD8 and perhaps ANKLE1 expression, and indicate common mechanisms underlying breast and ovarian cancer risk.
6.	O'Donnell-Luria, AH, et al. (author) Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy 2019 In: American journal of human genetics. - : Elsevier BV. - 1537-6605 .- 0002-9297. ; 104:6, s. 1210-1222 Journal article (peer-reviewed)
7.	Bancroft, EK, et al. (author) Psychosocial impact of undergoing prostate cancer screening for men with BRCA1 or BRCA2 mutations 2019 In: BJU international. - : Wiley. - 1464-410X .- 1464-4096. ; 123:2, s. 284-292 Journal article (peer-reviewed)
8.	Bancroft, EK, et al. (author) Targeted prostate cancer screening in BRCA1 and BRCA2 mutation carriers: results from the initial screening round of the IMPACT study 2014 In: European urology. - : Elsevier BV. - 1873-7560 .- 0302-2838. ; 66:3, s. 489-499 Journal article (peer-reviewed)
9.	Fabian, ID, et al. (author) Global Retinoblastoma Presentation and Analysis by National Income Level 2020 In: JAMA oncology. - : American Medical Association (AMA). - 2374-2445 .- 2374-2437. ; 6:5, s. 685-695 Journal article (peer-reviewed)
10.	Chatzikonstantinou, T, et al. (author) COVID-19 severity and mortality in patients with CLL: an update of the international ERIC and Campus CLL study 2021 In: Leukemia. - : Springer Science and Business Media LLC. - 1476-5551 .- 0887-6924. ; 3635:312, s. 3444-3454 Journal article (peer-reviewed)abstract Patients with chronic lymphocytic leukemia (CLL) may be more susceptible to Coronavirus disease 2019 (COVID-19) due to age, disease, and treatment-related immunosuppression. We aimed to assess risk factors of outcome and elucidate the impact of CLL-directed treatments on the course of COVID-19. We conducted a retrospective, international study, collectively including 941 patients with CLL and confirmed COVID-19. Data from the beginning of the pandemic until March 16, 2021, were collected from 91 centers. The risk factors of case fatality rate (CFR), disease severity, and overall survival (OS) were investigated. OS analysis was restricted to patients with severe COVID-19 (definition: hospitalization with need of oxygen or admission into an intensive care unit). CFR in patients with severe COVID-19 was 38.4%. OS was inferior for patients in all treatment categories compared to untreated (p < 0.001). Untreated patients had a lower risk of death (HR = 0.54, 95% CI:0.41–0.72). The risk of death was higher for older patients and those suffering from cardiac failure (HR = 1.03, 95% CI:1.02–1.04; HR = 1.79, 95% CI:1.04–3.07, respectively). Age, CLL-directed treatment, and cardiac failure were significant risk factors of OS. Untreated patients had a better chance of survival than those on treatment or recently treated.

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Type of publication: journal article (66); conference paper (6)

Type of content: peer-reviewed (66); other academic/artistic (6)

Author/Editor: Evans, DG (19); Davidson, R. (18); Brewer, C (18); Izatt, L. (17); Cook, J. (16); Lubinski, J (16); show more...; Radice, P (15); Walker, L. (15); Friedman, E. (14); Easton, DF (14); Buys, SS (14); Teixeira, MR (14); Kast, K. (14); Peterlongo, P (13); Hamann, U (13); Andrulis, IL (13); Couch, FJ (13); Simard, J (13); Nevanlinna, H (13); Chenevix-Trench, G (13); Meindl, A (13); Antoniou, AC (13); McGuffog, L. (13); Rennert, G. (13); Thomassen, M. (13); Frost, D. (13); Stoppa-Lyonnet, D. (13); Offit, K. (13); Montagna, M. (13); Sutter, C. (13); Benitez, J. (12); Teo, SH (12); Glendon, G (12); Toland, AE (12); Schmutzler, RK (12); Singer, CF (12); Wappenschmidt, B. (12); Engel, C. (12); De La Hoya, M. (12); Caligo, MA (12); Kirk, J. (11); Manoukian, S (11); Aittomaki, K (11); Olah, E (11); Osorio, A. (11); Lazaro, C. (11); Niederacher, D. (11); Caldes, T. (11); Barrowdale, D (11); Adlard, J (11); show less...

University: Karolinska Institutet (47); Lund University (26); Uppsala University (13); Umeå University (12); Linköping University (7); University of Gothenburg (5); show more...; Chalmers University of Technology (2); Royal Institute of Technology (1); Luleå University of Technology (1); Halmstad University (1); The Swedish School of Sport and Health Sciences (1); show less...

Language: English (73); Swedish (1)

Research subject (UKÄ/SCB): Medical and Health Sciences (38); Natural sciences (8); Engineering and Technology (2); Agricultural Sciences (1); Humanities (1)

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