Publications | Lund University Publications

201 – 210 of 1994

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2022
Mark The use of polygenic risk scores in pre-implantation genetic testing : an unproven, unethical practice
Forzano, Francesca ; Antonova, Olga ; Clarke, Angus ; de Wert, Guido ; Hentze, Sabine ; Jamshidi, Yalda ; Moreau, Yves ; Perola, Markus ; Prokopenko, Inga and Read, Andrew , et al. (2022) In European Journal of Human Genetics 30(5). p.493-495
- Contribution to journal › Article
Mark Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants : Application of a points-based ACMG/AMP approach
Thomassen, Mads ; Mesman, Romy L.S. ; Hansen, Thomas V.O. ; Menendez, Mireia ; Rossing, Maria ; Esteban-Sánchez, Ada ; Tudini, Emma ; Törngren, Therese ^LU ; Parsons, Michael T. and Pedersen, Inge S. , et al. (2022) In Human Mutation 43(12). p.1921-1944
- Contribution to journal › Article
Mark Genetic Predictors of Change in Waist Circumference and Waist-to-Hip Ratio With Lifestyle Intervention : The Trans-NIH Consortium for Genetics of Weight Loss Response to Lifestyle Intervention
McCaffery, Jeanne M. ; Jablonski, Kathleen A. ; Pan, Qing ; Astrup, Arne ; Revsbech Christiansen, Malene ; Corella, Dolores ; Corso, Lauren M.L. ; Florez, Jose C. ; Franks, Paul W. ^LU and Gardner, Christopher , et al. (2022) In Diabetes 71(4). p.669-676
- Contribution to journal › Article
Mark Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression
Kalamajski, Sebastian ^LU ; Huang, Mi ^LU ; Dalla-Riva, Jonathan ^LU ; Keller, Maria ^LU ; Dawed, Adem Y ; Hansson, Ola ^LU ; Pearson, Ewan R ^LU ; Mulder, Hindrik ^LU and Franks, Paul W ^LU (2022) In Human Molecular Genetics 31(4). p.491-498
- Contribution to journal › Article
Mark PrecisionFDA Truth Challenge V2: Calling variants from short and long reads in difficult-to-map regions
Olson, Nathan D. ; Wagner, Justin ; McDaniel, Jennifer ; Stephens, Sarah H. ; Westreich, Samuel T. ; Prasanna, Anish G. ; Johanson, Elaine ; Boja, Emily ; Maier, Ezekiel J. and Serang, Omar , et al. (2022) In Cell Genomics 2(5). p.1-12
- Contribution to journal › Article
Mark Return of genomic results does not motivate intent to participate in research for all : Perspectives across 22 countries
Milne, Richard ; Morley, Katherine I. ; Almarri, Mohamed A. ; Atutornu, Jerome ; Baranova, Elena E. ; Bevan, Paul ; Cerezo, Maria ; Cong, Yali ; Costa, Alessia and Feijao, Carolina , et al. (2022) In Genetics in Medicine 24(5). p.1120-1129
- Contribution to journal › Article
Mark The diagnostic utility of DNA copy number analysis of core needle biopsies from soft tissue and bone tumors
Köster, Jan ^LU ; Piccinelli, Paul ^LU ; Arvidsson, Linda ; Vult von Steyern, Fredrik ^LU ; Bedeschi Rego De Mattos, Camila ^LU ; Almquist, Martin ^LU ; Nilsson, Jenny ^LU ; Magnusson, Linda ^LU and Mertens, Fredrik ^LU (2022) In Laboratory Investigation 102(8). p.838-845
- Contribution to journal › Article
Mark Genome-wide meta-analysis of monoclonal gammopathy of undetermined significance (MGUS) identifies risk loci impacting IRF-6
Clay-Gilmour, Alyssa ; Chattopadhyay, Subhayan ^LU ; Hildebrandt, Michelle A.T. ; Thomsen, Hauke ^LU ; Weinhold, Niels ; Vodicka, Pavel ; Vodickova, Ludmila ; Hoffmann, Per ; Nöthen, Markus M. and Jöckel, Karl Heinz , et al. (2022) In Blood Cancer Journal 12. p.1-5
- Contribution to journal › Letter
Mark Structure and functional mapping of the KRAB-KAP1 repressor complex
Stoll, Guido A ; Pandiloski, Ninoslav ^LU ; Douse, Christopher H ^LU and Modis, Yorgo (2022) In EMBO Journal 41(24).
- Contribution to journal › Article
Mark Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure
Christensen, Alex Hørby ; Platonov, Pyotr G. ^LU ; Jensen, Henrik Kjærulf ; Chivulescu, Monica ; Svensson, Anneli ^LU ; Dahlberg, Pia ^LU ; Madsen, Trine ; Frederiksen, Tanja Charlotte ; Heliö, Tiina and Lie, Øyvind Haugen , et al. (2022) In Journal of Medical Genetics 59(9). p.858-864
- Contribution to journal › Article

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