Ulf Gyllensten – Nya molekylära metoder för bättre diagnostik och screening för gynekologisk cancer

Deep plasma proteomics identifies and validates an eight-protein biomarker panel that separate benign from malignant tumors in ovarian cancer

Moskov, Mikaela; Hedlund Lindberg, Julia; Lycke, Maria; Ivansson, Emma et al.

Ingår i Communications Medicine, 2025

• DOI för Deep plasma proteomics identifies and validates an eight-protein biomarker panel that separate benign from malignant tumors in ovarian cancer
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Novel diagnostics for improved treatment of gynecological cancer

Gyllensten, Ulf B.

Ingår i Upsala Journal of Medical Sciences, 2025

• DOI för Novel diagnostics for improved treatment of gynecological cancer
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Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits

Keaton, Jacob M; Kamali, Zoha; Xie, Tian; Vaez, Ahmad et al.

Ingår i Nature Genetics, s. 778-791, 2024

• DOI för Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits
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Large-scale proteomics reveals precise biomarkers for detection of ovarian cancer in symptomatic women

Ivansson, Emma; Hedlund Lindberg, Julia; Stålberg, Karin; Sundfeldt, Karin et al.

Ingår i Scientific Reports, 2024

• DOI för Large-scale proteomics reveals precise biomarkers for detection of ovarian cancer in symptomatic women
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Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure

Ganji-Arjenaki, Mahboube; Kamali, Zoha; Sardari, Soroush; de Borst, Martin et al.

Ingår i Kidney international reports, s. 1849-1859, 2024

• DOI för Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure
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The genetic landscape of neuro-related proteins in human plasma

Repetto, Linda; Chen, Jiantao; Yang, Zhijian; Zhai, Ranran et al.

Ingår i Nature Human Behaviour, s. 2222-2234, 2024

• DOI för The genetic landscape of neuro-related proteins in human plasma

Toward ovarian cancer screening with protein biomarkers using dried, self-sampled cervico-vaginal fluid

Hedlund Lindberg, Julia; Widgren, Anna; Ivansson, Emma; Gustavsson, Inger M. et al.

Ingår i iScience, 2024

• DOI för Toward ovarian cancer screening with protein biomarkers using dried, self-sampled cervico-vaginal fluid
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Whole-genome resequencing facilitates the development of a 50K single nucleotide polymorphism genotyping array for Scots pine (Pinus sylvestris L.) and its transferability to other pine species

Barcala, Maximiliano Estravis; van der Valk, Tom; Chen, Zhiqiang; Funda, Tomas et al.

Ingår i The Plant Journal, s. 944-955, 2024

• DOI för Whole-genome resequencing facilitates the development of a 50K single nucleotide polymorphism genotyping array for Scots pine (Pinus sylvestris L.) and its transferability to other pine species
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Complete Mitochondrial DNA Genome Variation in the Swedish Population

Andreaggi, Kimberly; Bodner, Martin; Ring, Joseph D.; Ameur, Adam et al.

Ingår i Genes, s. 1989-1989, 2023

• DOI för Complete Mitochondrial DNA Genome Variation in the Swedish Population
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Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins

Llobet, Mònica Ortega; Johansson, Åsa; Gyllensten, Ulf B.; Allen, Marie et al.

Ingår i Forensic Science International, 2023

• DOI för Forensic prediction of sex, age, height, body mass index, hip-to-waist ratio, smoking status and lipid lowering drugs using epigenetic markers and plasma proteins
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Genetic insights into resting heart rate and its role in cardiovascular disease

van de Vegte, Yordi; Eppinga, Ruben P.; van der Ende, M. Yldau; Hagemeijer, Yanick et al.

Ingår i Nature Communications, 2023

• DOI för Genetic insights into resting heart rate and its role in cardiovascular disease
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Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets

Zhao, Jing Hua; Stacey, David; Eriksson, Niclas; Macdonald-Dunlop, Erin et al.

Ingår i Nature Immunology, s. 1540-1551, 2023

• DOI för Genetics of circulating inflammatory proteins identifies drivers of immune-mediated disease risk and therapeutic targets
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Next generation pan-cancer blood proteome profiling using proximity extension assay

Alvez, Maria Bueno; Edfors, Fredrik; von Feilitzen, Kalle; Zwahlen, Martin et al.

Ingår i Nature Communications, 2023

• DOI för Next generation pan-cancer blood proteome profiling using proximity extension assay
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Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas

Weishaupt, Holger; Čančer, Matko; Rosén, Gabriela; Holmberg, Karl O. et al.

Ingår i Neuro-Oncology, s. 97-107, 2023

• DOI för Novel cancer gene discovery using a forward genetic screen in RCAS-PDGFB-driven gliomas
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Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia

Wen, Jia; Trost, Brett; Engchuan, Worrawat; Halvorsen, Matthew et al.

Ingår i Molecular Psychiatry, s. 475-482, 2023

• DOI för Rare tandem repeat expansions associate with genes involved in synaptic and neuronal signaling functions in schizophrenia
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Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability

Kierczak, Marcin; Rafati, Nima; Höglund, Julia; Gourlé, Hadrien et al.

Ingår i Nature Communications, 2022

• DOI för Contribution of rare whole-genome sequencing variants to plasma protein levels and the missing heritability
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CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations

Höijer, Ida; Emmanouilidou, Anastasia; Östlund, Rebecka; van Schendel, Robin et al.

Ingår i Nature Communications, 2022

• DOI för CRISPR-Cas9 induces large structural variants at on-target and off-target sites in vivo that segregate across generations
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Data-driven analysis of a validated risk score for ovarian cancer identifies clinically distinct patterns during follow-up and treatment

Enroth, Stefan; Ivansson, Emma; Hedlund Lindberg, Julia; Lycke, Maria et al.

Ingår i Communications Medicine, 2022

• DOI för Data-driven analysis of a validated risk score for ovarian cancer identifies clinically distinct patterns during follow-up and treatment
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Genetic Landscape of the ACE2 Coronavirus Receptor

Yang, Zhijian; Macdonald-Dunlop, Erin; Chen, Jiantao; Zhai, Ranran et al.

Ingår i Circulation, s. 1398-1411, 2022

• DOI för Genetic Landscape of the ACE2 Coronavirus Receptor
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Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

Wang, Zhe; Emmerich, Andrew; Pillon, Nicolas J; Moore, Tim et al.

Ingår i Nature Genetics, s. 1332-1344, 2022

• DOI för Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention
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Implementing precision medicine in a regionally organized healthcare system in Sweden.

Fioretos, Thoas; Wirta, Valtteri; Cavelier, Lucia; Berglund, Eva et al.

Ingår i Nature Medicine, s. 1980-1982, 2022

• DOI för Implementing precision medicine in a regionally organized healthcare system in Sweden.

Incidence of oncogenic HPV and HPV-related dysplasia five years after a negative HPV test by self-sampling in elderly women

Hermansson, Ruth S.; Olovsson, Matts; Gustavsson, Inger M.; Gyllensten, Ulf B. et al.

Ingår i Infectious Agents and Cancer, 2022

• DOI för Incidence of oncogenic HPV and HPV-related dysplasia five years after a negative HPV test by self-sampling in elderly women
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Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer.

Gyllensten, Ulf B.; Hedlund-Lindberg, Julia; Svensson, Johanna; Manninen, Johanna et al.

Ingår i Cancers, 2022

• DOI för Next Generation Plasma Proteomics Identifies High-Precision Biomarker Candidates for Ovarian Cancer.
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The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes

Sturk-Andreaggi, Kimberly; Ring, Joseph D.; Ameur, Adam; Gyllensten, Ulf et al.

Ingår i International Journal of Molecular Sciences, 2022

• DOI för The Value of Whole-Genome Sequencing for Mitochondrial DNA Population Studies: Strategies and Criteria for Extracting High-Quality Mitogenome Haplotypes
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Brush Samples of Oral Lesions to FTA Elute Card for High-risk Human Papilloma Virus Diagnosis

Runow Stark, Christina; Gustavsson, Inger; Horal, Peter; Kotopouli, Maria et al.

Ingår i Anticancer Research, s. 269-277, 2021

• DOI för Brush Samples of Oral Lesions to FTA Elute Card for High-risk Human Papilloma Virus Diagnosis

Comparison of vaginal self-sampling and cervical sampling by medical professionals for the detection of HPV and CIN2+: a randomized study

Aarnio, Riina; Isacson, Isabella; Sanner, Karin; Gustavsson, Inger M. et al.

Ingår i International Journal of Cancer, s. 3051-3059, 2021

• DOI för Comparison of vaginal self-sampling and cervical sampling by medical professionals for the detection of HPV and CIN2+: a randomized study
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Identification of Candidate Protein Biomarkers for CIN2+ Lesions from Self-Sampled, Dried Cervico-Vaginal Fluid Using LC-MS/MS

Lara Gutiérrez, Ariadna; Hedlund Lindberg, Julia; Shevchenko, Ganna; Gustavsson, Inger et al.

Ingår i Cancers, 2021

• DOI för Identification of Candidate Protein Biomarkers for CIN2+ Lesions from Self-Sampled, Dried Cervico-Vaginal Fluid Using LC-MS/MS
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Immune cells lacking Y chromosome show dysregulation of autosomal gene expression

Dumanski, Jan P.; Halvardson, Jonatan; Davies, Hanna; Rychlicka-Buniowska, Edyta et al.

Ingår i Cellular and Molecular Life Sciences (CMLS), s. 4019-4033, 2021

• DOI för Immune cells lacking Y chromosome show dysregulation of autosomal gene expression
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Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

Klaric, Lucija; Gisby, Jack S; Papadaki, Artemis; Muckian, Marisa D et al.

Ingår i medRxiv : the preprint server for health sciences, s. 1-28, 2021

• DOI för Mendelian randomisation identifies alternative splicing of the FAS death receptor as a mediator of severe COVID-19

Patterns of Human Leukocyte Antigen Class I and Class II Associations and Cancer

Liu, Zhiwei; Derkach, Andriy; Yu, Kelly J.; Yeager, Meredith et al.

Ingår i Cancer Research, s. 1148-1152, 2021

• DOI för Patterns of Human Leukocyte Antigen Class I and Class II Associations and Cancer

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

Ilumae, Anne-Mai; Post, Helen; Flores, Rodrigo; Karmin, Monika et al.

Ingår i European Journal of Human Genetics, s. 1510-1519, 2021

• DOI för Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

Acceptability of self- collection for human papillomavirus detection in the Eastern Cape, South Africa

Taku, Ongeziwe; Meiring, Tracy L.; Gustavsson, Inger M.; Phohlo, Keletso et al.

Ingår i PLOS ONE, 2020

• DOI för Acceptability of self- collection for human papillomavirus detection in the Eastern Cape, South Africa
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Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity

Höijer, Ida; Johansson, Josefin; Gudmundsson, Sanna; Chin, Chen-Shan et al.

Ingår i Genome Biology, 2020

• DOI för Amplification-free long-read sequencing reveals unforeseen CRISPR-Cas9 off-target activity
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Cost-effectiveness analysis of repeated self-sampling for HPV testing in primary cervical screening: a randomized study

Aarnio, Riina; Östensson, Ellinor; Olovsson, Matts; Gustavsson, Inger M. et al.

Ingår i BMC Cancer, 2020

• DOI för Cost-effectiveness analysis of repeated self-sampling for HPV testing in primary cervical screening: a randomized study

Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes

Fatima, Nazeefa; Petri, Anna; Gyllensten, Ulf; Feuk, Lars et al.

Ingår i Genes, 2020

• DOI för Evaluation of Single-Molecule Sequencing Technologies for Structural Variant Detection in Two Swedish Human Genomes
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Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Folkersen, Lasse; Gustafsson, Stefan; Wang, Qin; Hvidberg Hansen, Daniel et al.

Ingår i Nature Metabolism, s. 1135-1148, 2020

• DOI för Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals

Human papillomavirus prevalence and risk factors among HIV-negative and HIV-positive women residing in rural Eastern Cape, South Africa

Taku, Ongeziwe; Businge, Charles B.; Mdaka, Mana L.; Phohlo, Keletso et al.

Ingår i International Journal of Infectious Diseases, s. 176-182, 2020

• DOI för Human papillomavirus prevalence and risk factors among HIV-negative and HIV-positive women residing in rural Eastern Cape, South Africa
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Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia

Halvorsen, Matthew; Huh, Ruth; Oskolkov, Nikolay; Wen, Jia et al.

Ingår i Nature Communications, 2020

• DOI för Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
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Preoperative Fasting and General Anaesthesia Alter the Plasma Proteome

Gyllensten, Ulf B.; Bosdotter Enroth, Sofia; Stålberg, Karin; Sundfeldt, Karin et al.

Ingår i Cancers, 2020

• DOI för Preoperative Fasting and General Anaesthesia Alter the Plasma Proteome
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SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes

Nordin, Jessika; Ameur, Adam; Lindblad-Toh, Kerstin; Gyllensten, Ulf et al.

Ingår i European Journal of Human Genetics, s. 627-635, 2020

• DOI för SweHLA: the high confidence HLA typing bio-resource drawn from 1000 Swedish genomes
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Temporal changes in the vaginal microbiota in self-samples and its association with persistent HPV16 infection and CIN2+

Berggrund, Malin; Gustavsson, Inger M.; Aarnio, Riina; Lindberg, Julia Hedlund et al.

Ingår i Virology Journal, 2020

• DOI för Temporal changes in the vaginal microbiota in self-samples and its association with persistent HPV16 infection and CIN2+
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The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly

Pinese, Mark; Lacaze, Paul; Rath, Emma M.; Stone, Andrew et al.

Ingår i Nature Communications, 2020

• DOI för The Medical Genome Reference Bank contains whole genome and phenotype data of 2570 healthy elderly
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Associations of autozygosity with a broad range of human phenotypes

Clark, David W.; Karlsson, Torgny; Sennblad, Bengt; Gyllensten, Ulf B. et al.

Ingår i Nature Communications, 2019

• DOI för Associations of autozygosity with a broad range of human phenotypes
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Clinical validation of the HPVIR high-risk HPV test on cervical samples according to the international guidelines for human papillomavirus DNA test requirements for cervical cancer screening

Gustavsson, Inger M.; Aarnio, Riina; Myrnäs, Mattias; Lindberg, Julia Hedlund et al.

Ingår i Virology Journal, 2019

• DOI för Clinical validation of the HPVIR high-risk HPV test on cervical samples according to the international guidelines for human papillomavirus DNA test requirements for cervical cancer screening
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Diagnostic excision of the cervix in women over 40 years with human papilloma virus persistency and normal cytology

Aarnio, Riina; Wikström, Ingrid; Gustavsson, Inger M.; Gyllensten, Ulf B. et al.

Ingår i European journal of obstetrics & gynecology and reproductive biology: X, 2019

• DOI för Diagnostic excision of the cervix in women over 40 years with human papilloma virus persistency and normal cytology
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Epigenome-wide association study of lung function level and its change

Imboden, Medea; Wielscher, Matthias; Rezwan, Faisal I; Amaral, André F S et al.

Ingår i European Respiratory Journal, 2019

• DOI för Epigenome-wide association study of lung function level and its change
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Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

Sakornsakolpat, Phuwanat; Prokopenko, Dmitry; Lamontagne, Maxime; Reeve, Nicola F. et al.

Ingår i Nature Genetics, s. 494-505, 2019

• DOI för Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

High throughput proteomics identifies a high-accuracy 11 plasma protein biomarker signature for ovarian cancer

Enroth, Stefan; Berggrund, Malin; Lycke, Maria; Broberg, John et al.

Ingår i Communications Biology, 2019

• DOI för High throughput proteomics identifies a high-accuracy 11 plasma protein biomarker signature for ovarian cancer
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HPV viral load in self-collected vaginal fluid samples as predictor for presence of cervical intraepithelial neoplasia.

Berggrund, Malin; Gustavsson, Inger M.; Aarnio, Riina; Lindberg, Julia Hedlund et al.

Ingår i Virology Journal, 2019

• DOI för HPV viral load in self-collected vaginal fluid samples as predictor for presence of cervical intraepithelial neoplasia.
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Identification of Candidate Plasma Protein Biomarkers for Cervical Cancer Using the Multiplex Proximity Extension Assay

Berggrund, Malin; Enroth, Stefan; Lundberg, Martin; Assarsson, Erika et al.

Ingår i Molecular & Cellular Proteomics, s. 735-743, 2019

• DOI för Identification of Candidate Plasma Protein Biomarkers for Cervical Cancer Using the Multiplex Proximity Extension Assay

Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology

Cui, Tao; Enroth, Stefan; Ameur, Adam; Gustavsson, Inger et al.

Ingår i Carcinogenesis, s. 269-278, 2019

• DOI för Invasive cervical tumors with high and low HPV titer represent molecular subgroups with different disease etiology

New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

Shrine, Nick; Guyatt, Anna L.; Erzurumluoglu, A. Mesut; Jackson, Victoria E. et al.

Ingår i Nature Genetics, s. 481-493, 2019

• DOI för New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries

Randomised study of HPV prevalence and detection of CIN2+ in vaginal self-sampling compared to cervical specimens collected by medical personnel.

Gustavsson, Inger M.; Aarnio, Riina; Berggrund, Malin; Lindberg, Julia Hedlund et al.

Ingår i International Journal of Cancer, s. 89-97, 2019

• DOI för Randomised study of HPV prevalence and detection of CIN2+ in vaginal self-sampling compared to cervical specimens collected by medical personnel.

A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood

Jiang, Jiyang; Thalamuthu, Anbupalam; Ho, Jennifer E.; Mahajan, Anubha et al.

Ingår i Frontiers in Genetics, 2018

• DOI för A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood
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A two-step strategy for identification of plasma protein biomarkers for endometrial and ovarian cancer

Enroth, Stefan; Berggrund, Malin; Lycke, Maria; Lundberg, Martin et al.

Ingår i Clinical Proteomics, 2018

• DOI för A two-step strategy for identification of plasma protein biomarkers for endometrial and ovarian cancer
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Cervical dysplasia in elderly women performing repeated self-sampling for HPV testing

Lindström, Annika; Sanchez Hermansson, Ruth; Gustavsson, Inger M.; Lindberg, Julia Hedlund et al.

Ingår i PLOS ONE, 2018

• DOI för Cervical dysplasia in elderly women performing repeated self-sampling for HPV testing
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De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data

Ameur, Adam; Che, Huiwen; Martin, Marcel; Bunikis, Ignas et al.

Ingår i Genes, 2018

• DOI för De Novo Assembly of Two Swedish Genomes Reveals Missing Segments from the Human GRCh38 Reference and Improves Variant Calling of Population-Scale Sequencing Data
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Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing

Höijer, Ida; Tsai, Yu-Chih; Clark, Tyson A.; Kotturi, Paul et al.

Ingår i Human Mutation, s. 1262-1272, 2018

• DOI för Detailed analysis of HTT repeat elements in human blood using targeted amplification-free long-read sequencing
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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Evangelou, Evangelos; Warren, Helen R; Mosen-Ansorena, David; Mifsud, Borbala et al.

Ingår i Nature Genetics, s. 1412-1425, 2018

• DOI för Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

Genetic variants influencing phenotypic variance heterogeneity

Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny; Enroth, Stefan et al.

Ingår i Human Molecular Genetics, s. 799-810, 2018

• DOI för Genetic variants influencing phenotypic variance heterogeneity

Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Jackson, Victoria E; Latourelle, Jeanne C; Wain, Louise V; Smith, Albert V et al.

Ingår i Wellcome open research, 2018

• DOI för Meta-analysis of exome array data identifies six novel genetic loci for lung function.

Randomised study shows that repeated self-sampling and HPV test has more than two-fold higher detection rate of women with CIN2+ histology than Pap smear cytology

Gustavsson, Inger M.; Aarnio, Riina; Berggrund, Malin; Lindberg, Julia Hedlund et al.

Ingår i British Journal of Cancer, s. 896-904, 2018

• DOI för Randomised study shows that repeated self-sampling and HPV test has more than two-fold higher detection rate of women with CIN2+ histology than Pap smear cytology
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Systemic and specific effects of antihypertensive and lipid-lowering medication on plasma protein biomarkers for cardiovascular diseases

Enroth, Stefan; Maturi, Varun; Berggrund, Malin; Bosdotter Enroth, Sofia et al.

Ingår i Scientific Reports, 2018

• DOI för Systemic and specific effects of antihypertensive and lipid-lowering medication on plasma protein biomarkers for cardiovascular diseases
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Targeted plasma proteomics identifies a novel, robust association between cornulin and Swedish moist snuff

Sundkvist, Anneli; Myte, Robin; Bodén, Stina; Enroth, Stefan et al.

Ingår i Scientific Reports, 2018

• DOI för Targeted plasma proteomics identifies a novel, robust association between cornulin and Swedish moist snuff
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Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies

Ek, Weronica E.; Ahsan, Muhammad; Rask-Andersen, Mathias; Liang, Liming et al.

Ingår i Epigenomics, s. 407-418, 2017

• DOI för Epigenome-wide DNA methylation study of IgE concentration in relation to self-reported allergies

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Aschard, Hugues; Tobin, Martin D; Hancock, Dana B; Skurnik, David et al.

Ingår i International Journal of Epidemiology, s. 894-904, 2017

• DOI för Evidence for large-scale gene-by-smoking interaction effects on pulmonary function
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Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

Wain, Louise V; Shrine, Nick; Artigas, María Soler; Erzurumluoglu, A Mesut et al.

Ingår i Nature Genetics, s. 416-425, 2017

• DOI för Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets.

Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Warren, Helen R.; Evangelou, Evangelos; Cabrera, Claudia P.; Gao, He et al.

Ingår i Nature Genetics, s. 403-415, 2017

• DOI för Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk

Genome-wide physical activity interactions in adiposity: A meta-analysis of 200,452 adults.

Graff, Mariaelisa; Scott, Robert A; Justice, Anne E; Young, Kristin L et al.

Ingår i PLOS Genetics, 2017

• DOI för Genome-wide physical activity interactions in adiposity: A meta-analysis of 200,452 adults.
• Ladda ner fulltext (pdf) av Genome-wide physical activity interactions in adiposity: A meta-analysis of 200,452 adults.

Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease

Folkersen, Lasse; Fauman, Eric; Sabater-Lleal, Maria; Strawbridge, Rona J et al.

Ingår i PLOS Genetics, 2017

• DOI för Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease
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Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

Wain, Louise V.; Vaez, Ahmad; Jansen, Rick; Joehanes, Roby et al.

Ingår i Hypertension, 2017

• DOI för Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

Pan, Gang; Ameur, Adam; Enroth, Stefan; Bysani, Madhusudhan et al.

Ingår i Nucleic Acids Research, s. 2408-2422, 2017

• DOI för PATZ1 down-regulates FADS1 by binding to rs174557 and is opposed by SP1/SREBP1c

SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population

Ameur, Adam; Dahlberg, Johan; Olason, Pall; Vezzi, Francesco et al.

Ingår i European Journal of Human Genetics, s. 1253-1260, 2017

• DOI för SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population
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The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.

Ahsan, Muhammad; Ek, Weronica E; Rask-Andersen, Mathias; Karlsson, Torgny et al.

Ingår i PLOS Genetics, 2017

• DOI för The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
• Ladda ner fulltext (pdf) av The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.

A multiple-phenotype imputation method for genetic studies

Dahl, Andrew; Iotchkova, Valentina; Baud, Amelie; Johansson, Åsa et al.

Ingår i Nature Genetics, s. 466-472, 2016

• DOI för A multiple-phenotype imputation method for genetic studies

Effects of Long-Term Storage Time and Original Sampling Month on Biobank Plasma Protein Concentrations

Enroth, Stefan; Hallmans, Göran; Grankvist, Kjell; Gyllensten, Ulf

Ingår i EBioMedicine, s. 309-314, 2016

• DOI för Effects of Long-Term Storage Time and Original Sampling Month on Biobank Plasma Protein Concentrations
• Ladda ner fulltext (pdf) av Effects of Long-Term Storage Time and Original Sampling Month on Biobank Plasma Protein Concentrations

Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction

Rask-Andersen, Mathias; Martinsson, David; Ahsan, Muhammad; Enroth, Stefan et al.

Ingår i Human Molecular Genetics, s. 4739-4748, 2016

• DOI för Epigenome-wide association study reveals differential DNA methylation in individuals with a history of myocardial infarction

Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian; Teumer, Alexander; Gorski, Mathias; Chu, Audrey Y et al.

Ingår i Nature Communications, 2016

• DOI för Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function
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Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15

Ek, Weronica E; Hedman, Åsa K; Enroth, Stefan; Morris, Andrew P et al.

Ingår i Human Molecular Genetics, s. 817-827, 2016

• DOI för Genome-wide DNA methylation study identifies genes associated with the cardiovascular biomarker GDF-15

Identification of novel genetic causes of Rett syndrome-like phenotypes

Lopes, Fatima; Barbosa, Mafalda; Ameur, Adam; Soares, Gabriela et al.

Ingår i Journal of Medical Genetics, s. 190-199, 2016

• DOI för Identification of novel genetic causes of Rett syndrome-like phenotypes

KLB is associated with alcohol drinking, and its gene product beta-Klotho is necessary for FGF21 regulation of alcohol preference

Schumann, Gunter; Liu, Chunyu; O'Reilly, Paul; Gao, He et al.

Ingår i Proceedings of the National Academy of Sciences of the United States of America, s. 14372-14377, 2016

• DOI för KLB is associated with alcohol drinking, and its gene product beta-Klotho is necessary for FGF21 regulation of alcohol preference

Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (CIN3) identifies a new susceptibility locus

Chen, Dan; Enroth, Stefan; Liu, Han; Sun, Yang et al.

Ingår i Oncotarget, s. 42216-42224, 2016

• DOI för Pooled analysis of genome-wide association studies of cervical intraepithelial neoplasia 3 (CIN3) identifies a new susceptibility locus

The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

Ehret, Georg B.; Ferreira, Teresa; Chasman, Daniel I.; Jackson, Anne U. et al.

Ingår i Nature Genetics, s. 1171-1184, 2016

• DOI för The genetics of blood pressure regulation and its target organs from association studies in 342,415 individuals

A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity

Chen, Dan; Gaborieau, Valerie; Zhao, Yao; Chabrier, Amelie et al.

Ingår i Human Molecular Genetics, s. 2681-2688, 2015

• DOI för A systematic investigation of the contribution of genetic variation within the MHC region to HPV seropositivity

Analysis of the genetic architecture of susceptibility to cervical cancer indicates that common SNPs explain a large proportion of the heritability

Chen, Dan; Cui, Tao; Ek, Weronica E.; Liu, Han et al.

Ingår i Carcinogenesis, s. 992-998, 2015

• DOI för Analysis of the genetic architecture of susceptibility to cervical cancer indicates that common SNPs explain a large proportion of the heritability

Daily self-sampling for high-risk human papillomavirus (HR-HPV) testing.

Sanner, Karin; Wikström, Ingrid; Gustavsson, Inger; Wilander, Erik et al.

Ingår i Journal of Clinical Virology, s. 1-7, 2015

• DOI för Daily self-sampling for high-risk human papillomavirus (HR-HPV) testing.

Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.

Rask-Andersen, Mathias; Sällman Almén, Markus; Jacobsson, Josefin A; Ameur, Adam et al.

Ingår i Genetical Research, 2015

• DOI för Determination of obesity associated gene variants related to TMEM18 through ultra-deep targeted re-sequencing in a case-control cohort for pediatric obesity.

Directional dominance on stature and cognition in diverse human populations

Joshi, Peter K; Esko, Tonu; Mattsson, Hannele; Eklund, Niina et al.

Ingår i Nature, s. 459-462, 2015

• DOI för Directional dominance on stature and cognition in diverse human populations

Effect of genetic and environmental factors on protein biomarkers for common non-communicable disease and use of personally normalized plasma protein profiles (PNPPP)

Enroth, Stefan; Enroth, Sofia Bosdotter; Johansson, Åsa; Gyllensten, Ulf

Ingår i Biomarkers, s. 355-364, 2015

• DOI för Effect of genetic and environmental factors on protein biomarkers for common non-communicable disease and use of personally normalized plasma protein profiles (PNPPP)

Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E; Kahali, Bratati; Berndt, Sonja I; Justice, Anne E et al.

Ingår i Nature, s. 197-206, 2015

• DOI för Genetic studies of body mass index yield new insights for obesity biology

Homozygous loss-of-function variants in European cosmopolitan and isolate populations

Kaiser, Vera B; Svinti, Victoria; Prendergast, James G; Chau, You-Ying et al.

Ingår i Human Molecular Genetics, s. 5464-5475, 2015

• DOI för Homozygous loss-of-function variants in European cosmopolitan and isolate populations
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Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

Lopes, Fatima; Barbosa, Mafalda; Temudo, Teresa; de Sa, Joaquim et al.

Ingår i International Journal of Developmental Neuroscience, s. 99-99, 2015

• DOI för Identification of novel genetic causes of Rett syndrome-like phenotypes by whole exome sequencing

Lessons and implications from association studies and post-GWAS analyses of cervical cancer

Chen, Dan; Gyllensten, Ulf

Ingår i Trends in Genetics, s. 41-54, 2015

• DOI för Lessons and implications from association studies and post-GWAS analyses of cervical cancer

MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA-DNA triplex structures

Mondal, Tanmoy; Subhash, Santhilal; Vaid, Roshan; Enroth, Stefan et al.

Ingår i Nature Communications, 2015

• DOI för MEG3 long noncoding RNA regulates the TGF-β pathway genes through formation of RNA-DNA triplex structures
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Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans

Huffman, Jennifer E.; Albrecht, Eva; Teumer, Alexander; Mangino, Massimo et al.

Ingår i PLOS ONE, 2015

• DOI för Modulation of Genetic Associations with Serum Urate Levels by Body-Mass-Index in Humans
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Protein profiling reveals consequences of lifestyle choices on predicted biological aging

Enroth, Stefan; Enroth, Sofia Bosdotter; Johansson, Åsa; Gyllensten, Ulf

Ingår i Scientific Reports, 2015

• DOI för Protein profiling reveals consequences of lifestyle choices on predicted biological aging

Protein profiling reveals consequences of lifestyle choices on predicted biological aging

Enroth, Stefan; Enroth, Sofia Bosdotter; Johansson, Åsa; Gyllensten, Ulf

Ingår i Scientific Reports, 2015

• DOI för Protein profiling reveals consequences of lifestyle choices on predicted biological aging

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Soler Artigas, María; Wain, Louise V; Miller, Suzanne; Kheirallah, Abdul Kader et al.

Ingår i Nature Communications, 2015

• DOI för Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation
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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W.; Justice, Anne E.; Graff, Mariaelisa; Barata, Llilda et al.

Ingår i PLOS Genetics, 2015

• DOI för The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study
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A cis-eQTL of HLA-DRB1 and a frameshift mutation of MICA contribute to the pattern of association of HLA alleles with cervical cancer

Chen, Dan; Gyllensten, Ulf

Ingår i Cancer Medicine, s. 445-452, 2014

• DOI för A cis-eQTL of HLA-DRB1 and a frameshift mutation of MICA contribute to the pattern of association of HLA alleles with cervical cancer
• Ladda ner fulltext (pdf) av A cis-eQTL of HLA-DRB1 and a frameshift mutation of MICA contribute to the pattern of association of HLA alleles with cervical cancer