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2023
Mark Exome sequencing identifies breast cancer susceptibility genes and defines the contribution of coding variants to breast cancer risk
Wilcox, N. ; Wahlström, C. ^LU ; Kvist, A. ^LU and Simard, J. (2023) In Nature Genetics 55(9). p.1435-1439
- Contribution to journal › Article
2022
Mark A new missense variant in exon 7 of the ABO gene, c.662G>A, in a family with B w phenotype.
Hult, Annika K ^LU ; Hellberg, Åsa ^LU ; Storry, Jill R ^LU ; Písacka, Martin and Olsson, Martin L ^LU (2022) In Transfusion 62(10). p.55-58
- Contribution to journal › Article
Mark Breast cancer risks associated with missense variants in breast cancer susceptibility genes
Dorling, L. ; Kvist, A. ^LU ; Investigators, kConFab ; Investigators, SGBCC and Easton, Douglas F. (2022) In Genome Medicine 14(1).
- Contribution to journal › Article
2019
Mark Premature activation of Cdk1 leads to mitotic events in S phase and embryonic lethality
Szmyd, Radoslaw ; Niska-Blakie, Joanna ; Diril, M Kasim ; Renck Nunes, Patrícia ; Tzelepis, Konstantinos ; Lacroix, Aurélie ; van Hul, Noémi ; Deng, Lih-Wen ; Matos, Joao and Dreesen, Oliver , et al. (2019) In Oncogene 38(7). p.998-1018
- Contribution to journal › Article
2018
Mark Neuropathic MORC2 mutations perturb GHKL ATPase dimerization dynamics and epigenetic silencing by multiple structural mechanisms
Douse, Christopher H ^LU ; Bloor, Stuart ; Liu, Yangci ; Shamin, Maria ; Tchasovnikarova, Iva A ; Timms, Richard T ; Lehner, Paul J and Modis, Yorgo (2018) In Nature Communications 9.
- Contribution to journal › Article
2017
Mark Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease
Zhao, Wei ; Rasheed, Asif ; Tikkanen, Emmi ; Lee, Jung-Jin ; Butterworth, Adam S. ; Howson, Joanna M. M. ; Orho-Melander, Marju ^LU and Melander, Olle ^LU (2017) In Nature Genetics 49(10). p.1450-1457
- Contribution to journal › Article
Mark Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2
Tchasovnikarova, Iva A ; Timms, Richard T ; Douse, Christopher H ^LU ; Roberts, Rhys C ; Dougan, Gordon ; Kingston, Robert E ; Modis, Yorgo and Lehner, Paul J (2017) In Nature Genetics 49(7). p.1035-1044
- Contribution to journal › Article
2016
Mark NUDT15 Hydrolyzes 6-Thio-DeoxyGTP to Mediate the Anticancer Efficacy of 6-Thioguanine
Valerie, Nicholas C K ; Hagenkort, Anna ; Page, Brent D G ; Masuyer, Geoffrey ; Rehling, Daniel ; Carter, Megan ; Bevc, Luka ; Herr, Patrick ; Homan, Evert and Sheppard, Nina G , et al. (2016) In Cancer Research 76(18). p.11-5501
- Contribution to journal › Article
2012
Mark Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population
Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Chamkha, Imen ^LU ; Mkaouar-Rebai, Emna ; Sellami, Afifa ; Chakroun, Nozha ; Fakhfakh, Faiza and Ammar-Keskes, Leila (2012) In Genetic Testing and Molecular Biomarkers 16(11). p.302-1298
- Contribution to journal › Article
2011
Mark Crystal structure of a copper-transporting PIB-type ATPase
Gourdon, Pontus ^LU ; Liu, Xiang-Yu ; Skjørringe, Tina ; Morth, J Preben ; Møller, Lisbeth Birk ; Pedersen, Bjørn Panyella and Nissen, Poul (2011) In Nature 475(7354). p.59-64
- Contribution to journal › Article

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