Ulf Gyllensten – New molecular methods for improved diagnostics and screening for gynecological cancer

Novel diagnostics for improved treatment of gynecological cancer

Gyllensten, Ulf B.

Part of Upsala Journal of Medical Sciences, 2025

• DOI for 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.

Part of Nature Genetics, p. 778-791, 2024

• DOI for 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.

Part of Scientific Reports, 2024

• DOI for 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.

Part of Kidney international reports, p. 1849-1859, 2024

• DOI for 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.

Part of Nature Human Behaviour, p. 2222-2234, 2024

• DOI for 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.

Part of iScience, 2024

• DOI for 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.

Part of The Plant Journal, p. 944-955, 2024

• DOI for 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.

Part of Genes, p. 1989-1989, 2023

• DOI for 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.

Part of Forensic Science International, 2023

• DOI for 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.

Part of Nature Communications, 2023

• DOI for 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.

Part of Nature Immunology, p. 1540-1551, 2023

• DOI for 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.

Part of Nature Communications, 2023

• DOI for 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.

Part of Neuro-Oncology, p. 97-107, 2023

• DOI for 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.

Part of Molecular Psychiatry, p. 475-482, 2023

• DOI for 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.

Part of Nature Communications, 2022

• DOI for 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.

Part of Nature Communications, 2022

• DOI for 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.

Part of Communications Medicine, 2022

• DOI for 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.

Part of Circulation, p. 1398-1411, 2022

• DOI for 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.

Part of Nature Genetics, p. 1332-1344, 2022

• DOI for 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.

Part of Nature Medicine, p. 1980-1982, 2022

• DOI for 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.

Part of Infectious Agents and Cancer, 2022

• DOI for 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.

Part of Cancers, 2022

• DOI for 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.

Part of International Journal of Molecular Sciences, 2022

• DOI for 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.

Part of Anticancer Research, p. 269-277, 2021

• DOI for 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.

Part of International Journal of Cancer, p. 3051-3059, 2021

• DOI for 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.

Part of Cancers, 2021

• DOI for 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.

Part of Cellular and Molecular Life Sciences (CMLS), p. 4019-4033, 2021

• DOI for 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.

Part of medRxiv : the preprint server for health sciences, p. 1-28, 2021

• DOI for 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.

Part of Cancer Research, p. 1148-1152, 2021

• DOI for 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.

Part of European Journal of Human Genetics, p. 1510-1519, 2021

• DOI for 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.

Part of PLOS ONE, 2020

• DOI for 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.

Part of Genome Biology, 2020

• DOI for 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.

Part of BMC Cancer, 2020

• DOI for 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.

Part of Genes, 2020

• DOI for 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.

Part of Nature Metabolism, p. 1135-1148, 2020

• DOI for 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.

Part of International Journal of Infectious Diseases, p. 176-182, 2020

• DOI for 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.

Part of Nature Communications, 2020

• DOI for 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.

Part of Cancers, 2020

• DOI for 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.

Part of European Journal of Human Genetics, p. 627-635, 2020

• DOI for 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.

Part of Virology Journal, 2020

• DOI for 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.

Part of Nature Communications, 2020

• DOI for 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.

Part of Nature Communications, 2019

• DOI for 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.

Part of Virology Journal, 2019

• DOI for 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.

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

• DOI for 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.

Part of European Respiratory Journal, 2019

• DOI for 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.

Part of Nature Genetics, p. 494-505, 2019

• DOI for 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.

Part of Communications Biology, 2019

• DOI for 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.

Part of Virology Journal, 2019

• DOI for 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.

Part of Molecular & Cellular Proteomics, p. 735-743, 2019

• DOI for 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.

Part of Carcinogenesis, p. 269-278, 2019

• DOI for 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.

Part of Nature Genetics, p. 481-493, 2019

• DOI for 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.

Part of International Journal of Cancer, p. 89-97, 2019

• DOI for 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.

Part of Frontiers in Genetics, 2018

• DOI for 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.

Part of Clinical Proteomics, 2018

• DOI for 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.

Part of PLOS ONE, 2018

• DOI for 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.

Part of Genes, 2018

• DOI for 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.

Part of Human Mutation, p. 1262-1272, 2018

• DOI for 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.

Part of Nature Genetics, p. 1412-1425, 2018

• DOI for 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.

Part of Human Molecular Genetics, p. 799-810, 2018

• DOI for 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.

Part of Wellcome open research, 2018

• DOI for 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.

Part of British Journal of Cancer, p. 896-904, 2018

• DOI for 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.

Part of Scientific Reports, 2018

• DOI for 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.

Part of Scientific Reports, 2018

• DOI for 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.

Part of Epigenomics, p. 407-418, 2017

• DOI for 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.

Part of International Journal of Epidemiology, p. 894-904, 2017

• DOI for 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.

Part of Nature Genetics, p. 416-425, 2017

• DOI for 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.

Part of Nature Genetics, p. 403-415, 2017

• DOI for 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.

Part of PLOS Genetics, 2017

• DOI for Genome-wide physical activity interactions in adiposity: A meta-analysis of 200,452 adults.
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Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease

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

Part of PLOS Genetics, 2017

• DOI for 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.

Part of Hypertension, 2017

• DOI for 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.

Part of Nucleic Acids Research, p. 2408-2422, 2017

• DOI for 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.

Part of European Journal of Human Genetics, p. 1253-1260, 2017

• DOI for 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.

Part of PLOS Genetics, 2017

• DOI for The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
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A multiple-phenotype imputation method for genetic studies

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

Part of Nature Genetics, p. 466-472, 2016

• DOI for 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

Part of EBioMedicine, p. 309-314, 2016

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

Part of Human Molecular Genetics, p. 4739-4748, 2016

• DOI for 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.

Part of Nature Communications, 2016

• DOI for 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.

Part of Human Molecular Genetics, p. 817-827, 2016

• DOI for 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.

Part of Journal of Medical Genetics, p. 190-199, 2016

• DOI for 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.

Part of Proceedings of the National Academy of Sciences of the United States of America, p. 14372-14377, 2016

• DOI for 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.

Part of Oncotarget, p. 42216-42224, 2016

• DOI for 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.

Part of Nature Genetics, p. 1171-1184, 2016

• DOI for 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.

Part of Human Molecular Genetics, p. 2681-2688, 2015

• DOI for 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.

Part of Carcinogenesis, p. 992-998, 2015

• DOI for 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.

Part of Journal of Clinical Virology, p. 1-7, 2015

• DOI for 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.

Part of Genetical Research, 2015

• DOI for 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.

Part of Nature, p. 459-462, 2015

• DOI for 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

Part of Biomarkers, p. 355-364, 2015

• DOI for 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.

Part of Nature, p. 197-206, 2015

• DOI for 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.

Part of Human Molecular Genetics, p. 5464-5475, 2015

• DOI for 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.

Part of International Journal of Developmental Neuroscience, p. 99-99, 2015

• DOI for 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

Part of Trends in Genetics, p. 41-54, 2015

• DOI for 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.

Part of Nature Communications, 2015

• DOI for 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.

Part of PLOS ONE, 2015

• DOI for 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

Part of Scientific Reports, 2015

• DOI for 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

Part of Scientific Reports, 2015

• DOI for 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.

Part of Nature Communications, 2015

• DOI for 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.

Part of PLOS Genetics, 2015

• DOI for 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

Part of Cancer Medicine, p. 445-452, 2014

• DOI for A cis-eQTL of HLA-DRB1 and a frameshift mutation of MICA contribute to the pattern of association of HLA alleles with cervical cancer
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A variant upstream of HLA-DRB1 and multiple variants in MICA influence susceptibility to cervical cancer in a Swedish population

Chen, Dan; Hammer, Joanna; Lindquist, David; Idahl, Annika et al.

Part of Cancer Medicine, p. 190-198, 2014

• DOI for A variant upstream of HLA-DRB1 and multiple variants in MICA influence susceptibility to cervical cancer in a Swedish population
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