2024
Journal Articles
Prevalence of actionable pharmacogenetic variants and high-risk drug prescriptions: A Swiss hospital-based cohort study
CTS-CLINICAL AND TRANSLATIONAL SCIENCE. 2024. Vol. 17, num. 9. DOI : 10.1111/cts.70009.Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation
American Journal Of Human Genetics. 2024. Vol. 111, num. 6. DOI : 10.1016/j.ajhg.2024.04.013.Diagnostic accuracy of a sequence-specific Mtb-DNA hybridization assay in urine: a case-control study including subclinical TB cases
Microbiology Spectrum. 2024. DOI : 10.1128/spectrum.00426-24.Bacterial diversity dominates variable macrophage responses of tuberculosis patients in Tanzania
Scientific Reports. 2024. Vol. 14, num. 1, p. 9287. DOI : 10.1038/s41598-024-60001-0.A common NFKB1 variant detected through antibody analysis in UK Biobank predicts risk of infection and allergy
American Journal Of Human Genetics. 2024. Vol. 111, num. 2. DOI : 10.1016/j.ajhg.2023.12.013.Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19 (vol 15, 22, 2023)
Genome Medicine. 2024. Vol. 16, num. 1, p. 6. DOI : 10.1186/s13073-023-01278-0.Reply to Dages et al: You AIn’t using it right-artificial intelligence progress in allergy
Journal Of Allergy And Clinical Immunology. 2024. Vol. 153, num. 1, p. 355 – 356. DOI : 10.1016/j.jaci.2023.09.023.Conference Papers
Mitochondria-specific signature of oxidative damage in human cancers: an excess of A>G on heavy chain of the mitochondrial genome in slow-dividing normoxic tissues
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 718 – 718.Aneuploid human embryos are associated with increased maternal age, poor embryo morphology, high mitochondrial content and advanced development day of the biopsy: an analysis of 15’000 embryonic genomes
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 354 – 354.Low mitochondrial content marks high health status of human euploid embryos
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 101 – 101.Prevalence of clonal hematopoiesis in people living with HIV
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 443 – 444.The impact of human genetics on Mycobacterium tuberculosis intra-host evolution
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 346 – 346.Inborn errors of type I interferon immunity in patients with severe acute hepatitis E
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 451 – 451.Prevalence of actionable pharmacogenetic variants in a Swiss hospital cohort
2024. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 700 – 700.2023
Journal Articles
Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive
Mitochondrion. 2023. Vol. 74, p. 101817. DOI : 10.1016/j.mito.2023.10.005.The HLA-B*57:01 allele corresponds to a very large MHC haploblock likely explaining its massive effect for HIV-1 elite control
Frontiers In Immunology. 2023. Vol. 14, p. 1305856. DOI : 10.3389/fimmu.2023.1305856.Inborn errors of type I interferon immunity in patients with symptomatic acute hepatitis E
Hepatology. 2023. DOI : 10.1097/HEP.0000000000000701.Predicting type 2 diabetes risk before and after solid organ transplantation using polygenic scores in a Danish cohort
Frontiers In Molecular Biosciences. 2023. Vol. 10, p. 1282412. DOI : 10.3389/fmolb.2023.1282412.Genomics of Preaxostyla Flagellates Illuminates the Path Towards the Loss of Mitochondria
Plos Genetics. 2023. Vol. 19, num. 12, p. e1011050. DOI : 10.1371/journal.pgen.1011050.Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature. 2023. DOI : 10.1038/s41586-023-06717-x.Variation in African genomes linked to control of HIV
Nature. 2023. DOI : 10.1038/d41586-023-02277-2.Africa-specific human genetic variation near CHD1L associates with HIV-1 load
Nature. 2023. Vol. 620, p. 1025 – 1030. DOI : 10.1038/s41586-023-06370-4.A metagenome-wide association study of HIV disease progression in HIV controllers
Iscience. 2023. Vol. 26, num. 7, p. 107214. DOI : 10.1016/j.isci.2023.107214.Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor
Journal Of Allergy And Clinical Immunology. 2023. Vol. 152, num. 1, p. 257 – 265. DOI : 10.1016/j.jaci.2023.01.035.Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in & SIM;40% of patients
Journal Of Experimental Medicine. 2023. Vol. 220, num. 9, p. e20230661. DOI : 10.1084/jem.20230661.Multiancestry sex-stratified genomic associations with HIV viral load and controller status from the ICGH
Jci Insight. 2023. Vol. 8, num. 11, p. 170068. DOI : 10.1172/jci.insight.170068.Association of a Polygenic Risk Score With Osteoporosis in People Living With HIV: The Swiss HIV Cohort Study
Journal Of Infectious Diseases. 2023. DOI : 10.1093/infdis/jiad179.Secondary structure of the human mitochondrial genome affects formation of deletions
Bmc Biology. 2023. Vol. 21, num. 1, p. 103. DOI : 10.1186/s12915-023-01606-1.Epigenetic ageing accelerates before antiretroviral therapy and decelerates after viral suppression in people with HIV in Switzerland: a longitudinal study over 17 years
Lancet Healthy Longevity. 2023. Vol. 4, num. 5, p. E211 – E218. DOI : 10.1016/S2666-7568(23)00037-5.Viral Genetic Determinants of Prolonged Respiratory Syncytial Virus Infection Among Infants in a Healthy Term Birth Cohort
Journal Of Infectious Diseases. 2023. Vol. 227, num. 10, p. 1194 – 1202. DOI : 10.1093/infdis/jiac442.Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine. 2023. Vol. 15, num. 1, p. 22. DOI : 10.1186/s13073-023-01173-8.Back-to-Africa introductions of Mycobacterium tuberculosis as the main cause of tuberculosis in Dar es Salaam, Tanzania
Plos Pathogens. 2023. Vol. 19, num. 4, p. e1010893. DOI : 10.1371/journal.ppat.1010893.Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
Genes. 2023. Vol. 14, num. 3, p. 720. DOI : 10.3390/genes14030720.Associations of genetic and infectious risk factors with coronary heart disease
Elife. 2023. Vol. 12, p. e79742. DOI : 10.7554/eLife.79742.Leukocyte Count and Coronary Artery Disease Events in People With Human Immunodeficiency Virus: A Longitudinal Study
Clinical Infectious Diseases. 2023. DOI : 10.1093/cid/ciad033.Combining European and US risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study
European Journal Of Preventive Cardiology. 2023. DOI : 10.1093/eurjpc/zwad012.Genetic features and genomic targets of human KRAB-zinc finger proteins
Genome Research. 2023. DOI : 10.1101/gr.277722.123.Conference Papers
Inborn Errors of Type I Interferon Immunity in Patients with Severe Acute Hepatitis E
2023. p. 14S – 14S.Deamination of adenine to guanine is a signature of oxidative damage in mitochondrial DNA
2023. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 648 – 648.A polygenic risk score to predict sudden cardiac arrest in patients with cardiovascular disease
2023. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 691 – 691.A polygenic risk score improves the prediction of cardiovascular risk associated with obstructive sleep-apnoea
2023. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 145 – 146.Host genomic susceptibility to severe respiratory syncytial virus infection
2023. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 163 – 164.Theses
Host-Pathogen Interactions Through the Genomic Lens
Lausanne, EPFL, 2023.2022
Journal Articles
Visual masking deficits in schizophrenia: a view into the genetics of the disease through an endophenotype
Translational Psychiatry. 2022. Vol. 12, num. 1, p. 1 – 10, 529. DOI : 10.1038/s41398-022-02275-4.Variability of Primary Sjogren’s Syndrome Is Driven by Interferon alpha and Interferon alpha Blood Levels Are Associated With the Class II HLA-DQ Locus
Arthritis & Rheumatology. 2022. DOI : 10.1002/art.42265.The combined impact of persistent infections and human genetic variation on C-reactive protein levels
Bmc Medicine. 2022. Vol. 20, num. 1, p. 416. DOI : 10.1186/s12916-022-02607-7.A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand
Nucleic Acids Research. 2022. DOI : 10.1093/nar/gkac779.Polygenic Risk Scores for Prediction of Subclinical Coronary Artery Disease in Persons Living With HIV: The Swiss HIV Cohort Study
Clinical Infectious Diseases. 2022. DOI : 10.1093/cid/ciac758.A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits
Molecular Biology And Evolution. 2022. Vol. 39, num. 8, p. msac163. DOI : 10.1093/molbev/msac163.A Baseline Cellular Antiviral State Is Maintained by cGAS and Its Most Frequent Naturally Occurring Variant rs610913
Journal Of Immunology. 2022. Vol. 209, num. 3, p. 535 – 547. DOI : 10.4049/jimmunol.2100685.Dynamics of the most common pathogenic mtDNA variant m.3243A > G demonstrate frequency-dependency in blood and positive selection in the germline
Human Molecular Genetics. 2022. DOI : 10.1093/hmg/ddac149.Improving polygenic prediction with genetically inferred ancestry
Human Genetics And Genomics Advances. 2022. Vol. 3, num. 3, p. 100109. DOI : 10.1016/j.xhgg.2022.100109.The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies
Proceedings Of The National Academy Of Sciences Of The United States Of America. 2022. Vol. 119, num. 21, p. e2200413119. DOI : 10.1073/pnas.2200413119.Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human Ancestors
Genes. 2022. Vol. 13, num. 5, p. 810. DOI : 10.3390/genes13050810.Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms
Blood. 2022. Vol. 139, num. 17, p. 2716 – 2720. DOI : 10.1182/blood.2021014890.Identifying and Characterizing Trans Women in the Swiss HIV Cohort Study as an Epidemiologically Distinct Risk Group (vol 74, pg 1468, 2022)
Clinical Infectious Diseases. 2022. DOI : 10.1093/cid/ciac242.CD38 Expression by Antigen-Specific CD4 T Cells Is Significantly Restored 5 Months After Treatment Initiation Independently of Sputum Bacterial Load at the Time of Tuberculosis Diagnosis
Frontiers In Medicine. 2022. Vol. 9, p. 821776. DOI : 10.3389/fmed.2022.821776.Phylogenetic estimation of the viral fitness landscape of HIV-1 set-point viral load
Virus Evolution. 2022. Vol. 8, num. 1, p. veac022. DOI : 10.1093/ve/veac022.Incomplete Recovery of Zebrafish Retina Following Cryoinjury
Cells. 2022. Vol. 11, num. 8, p. 1373. DOI : 10.3390/cells11081373.A highly virulent variant of HIV-1 circulating in the Netherlands
Science. 2022. Vol. 375, num. 6580, p. 540 – 545. DOI : 10.1126/science.abk1688.Increased prevalence of clonal hematopoiesis of indeterminate potential amongst people living with HIV
Scientific Reports. 2022. Vol. 12, num. 1, p. 577. DOI : 10.1038/s41598-021-04308-2.Identifying and Characterizing Trans Women in the Swiss HIV Cohort Study as an Epidemiologically Distinct Risk Group
Clinical Infectious Diseases. 2022. Vol. 74, num. 8, p. 1468 – 1475. DOI : 10.1093/cid/ciab628.A global effort to dissect the human genetic basis of resistance to SARS-CoV-2 infection
Nature Immunology. 2022. Vol. 23, p. 159 – 164. DOI : 10.1038/s41590-021-01030-z.Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations
Plos Computational Biology. 2022. Vol. 18, num. 1, p. e1009628. DOI : 10.1371/journal.pcbi.1009628.PUS3-related disorder: Report of a novel patient and delineation of the phenotypic spectrum
American Journal Of Medical Genetics Part A. 2022. Vol. 188, num. 2, p. 635 – 641. DOI : 10.1002/ajmg.a.62547.Conference Papers
Risk of mitochondrial deletions is affected by the global secondary structure of the mitochondrial genome
2022. p. 438 – 439.A billion-year trend of amino acid substitutions in the mitochondrial genome
2022. p. 535 – 535.Mitochondrial mutational spectrum in human cancers is sensitive to cellular hypoxia
2022. p. 413 – 414.Increased CHIP prevalence amongst people living with HIV
2022. p. 75 – 75.A polygenic risk score to predict sudden cardiac arrest in patients with cardiovascular disease
2022. 50th European Mathematical Genetics Meeting (EMGM), Univ Cambridge, MRC Biostatist Unit, Cambridge, ENGLAND, April 21-22, 2022. p. 28 – 28.Reviews
Host genomics of SARS-CoV-2 infection
European Journal Of Human Genetics. 2022. Vol. 30, p. 908 – 914. DOI : 10.1038/s41431-022-01136-4.Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
Journal Of Clinical Immunology. 2022. Vol. 42, p. 299 – 311. DOI : 10.1007/s10875-021-01159-4.Theses
The interplay between human genetic variation, chronic inflammation and persistent infection: relevance for cardiovascular morbidity
Lausanne, EPFL, 2022.2021
Journal Articles
Telomere Length Declines in Persons With Human Immunodeficiency Virus Before Antiretroviral Therapy Start but Not After Viral Suppression: A Longitudinal Study Over >17 Years
Journal Of Infectious Diseases. 2021. Vol. 225, num. 9, p. 1581 – 1591. DOI : 10.1093/infdis/jiab603.Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder
Elife. 2021. Vol. 10, p. e72559. DOI : 10.7554/eLife.72559.Human genomics of the humoral immune response against polyomaviruses
Virus Evolution. 2021. Vol. 7, num. 2, p. veab058. DOI : 10.1093/ve/veab058.Coronary Artery Disease-Associated and Longevity-Associated Polygenic Risk Scores for Prediction of Coronary Artery Disease Events in Persons Living With Human Immunodeficiency Virus: The Swiss HIV Cohort Study
Clinical Infectious Diseases. 2021. Vol. 73, num. 9, p. 1597 – 1604. DOI : 10.1093/cid/ciab521.Viral genome wide association study identifies novel hepatitis C virus polymorphisms associated with sofosbuvir treatment failure
Nature Communications. 2021. Vol. 12, num. 1, p. 6105. DOI : 10.1038/s41467-021-25649-6.Truly privacy-preserving federated analytics for precision medicine with multiparty homomorphic encryption
Nature Communications. 2021. Vol. 12, num. 1, p. 5910. DOI : 10.1038/s41467-021-25972-y.A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response
Nature Genetics. 2021. Vol. 53, num. 10, p. 1504 – 1516. DOI : 10.1038/s41588-021-00935-7.Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma
Haematologica. 2021. Vol. 106, num. 8, p. 2233 – 2241. DOI : 10.3324/haematol.2020.247023.Autoantibodies neutralizing type I IFNs are present in similar to 4% of uninfected individuals over 70 years old and account for similar to 20% of COVID-19 deaths
Science Immunology. 2021. Vol. 6, num. 62, p. eabl4340. DOI : 10.1126/sciimmunol.abl4340.Rapid Progression of Kidney Dysfunction in People Living With HIV: Use of Polygenic and Data Collection on Adverse Events of Anti-HIV Drugs (D:A:D) Risk Scores
Journal Of Infectious Diseases. 2021. Vol. 223, num. 12, p. 2145 – 2153. DOI : 10.1093/infdis/jiaa695.Systematic screening of viral and human genetic variation identifies antiretroviral resistance and immune escape link
Elife. 2021. Vol. 10, p. e67388. DOI : 10.7554/eLife.67388.Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection
Neonatology. 2021. Vol. 118, num. 3, p. 359 – 363. DOI : 10.1159/000514694.The influence of human genetic variation on Epstein–Barr virus sequence diversity
Scientific Reports. 2021. Vol. 11, num. 1, p. 4586. DOI : 10.1038/s41598-021-84070-7.Revolutionizing Medical Data Sharing Using Advanced Privacy-Enhancing Technologies: Technical, Legal, and Ethical Synthesis
Journal Of Medical Internet Research. 2021. Vol. 23, num. 2, p. e25120. DOI : 10.2196/25120.Dissemination of Mycobacterium tuberculosis is associated to a SIGLEC1 null variant that limits antigen exchange via trafficking extracellular vesicles
Journal Of Extracellular Vesicles. 2021. Vol. 10, num. 3, p. e12046. DOI : 10.1002/jev2.12046.Blood virosphere in febrile Tanzanian children
Emerging Microbes & Infections. 2021. Vol. 10, num. 1, p. 982 – 993. DOI : 10.1080/22221751.2021.1925161.Reviews
Immunological lessons from genome-wide association studies of infections
Current Opinion In Immunology. 2021. Vol. 72, p. 119 – 125. DOI : 10.1016/j.coi.2021.03.017.HIV-1 and human genetic variation
Nature Reviews Genetics. 2021. Vol. 22, p. 645 – 657. DOI : 10.1038/s41576-021-00378-0.Theses
The genetic architecture of complex human traits at the dawn of genomic medicine
Lausanne, EPFL, 2021.2020
Journal Articles
Host Genomics of the HIV-1 Reservoir Size and Its Decay Rate During Suppressive Antiretroviral Treatment
Jaids-Journal Of Acquired Immune Deficiency Syndromes. 2020. Vol. 85, num. 4, p. 517 – 524. DOI : 10.1097/QAI.0000000000002473.Whole-exome Sequencing for the Identification of Rare Variants in Primary Immunodeficiency Genes in Children With Sepsis: A Prospective, Population-based Cohort Study
Clinical Infectious Diseases. 2020. Vol. 71, num. 10, p. E614 – E623. DOI : 10.1093/cid/ciaa290.HLA tapasin independence: broader peptide repertoire and HIV control
Proceedings Of The National Academy Of Sciences Of The United States Of America. 2020. Vol. 117, num. 45, p. 28232 – 28238. DOI : 10.1073/pnas.2013554117.Heritability of the HIV-1 reservoir size and decay under long-term suppressive ART
Nature Communications. 2020. Vol. 11, num. 1, p. 5542. DOI : 10.1038/s41467-020-19198-7.Virosaurus A Reference to Explore and Capture Virus Genetic Diversity
Viruses-Basel. 2020. Vol. 12, num. 11, p. 1248. DOI : 10.3390/v12111248.Inborn errors of type I IFN immunity in patients with life-threatening COVID-19
Science. 2020. Vol. 370, num. 6515, p. 422. DOI : 10.1126/science.abd4570.Polygenic modelling of treatment effect heterogeneity
Genetic Epidemiology. 2020. Vol. 44, num. 8, p. 868 – 879. DOI : 10.1002/gepi.22347.Assessing the impact of non-pharmaceutical interventions on SARS-CoV-2 transmission in Switzerland
Swiss Medical Weekly. 2020. Vol. 150, p. w20295. DOI : 10.4414/smw.20295.HLA Heterozygote Advantage against HIV-1 Is Driven by Quantitative and Qualitative Differences in HLA Allele-Specific Peptide Presentation
Molecular Biology And Evolution. 2020. Vol. 37, num. 3, p. 639 – 650. DOI : 10.1093/molbev/msz249.Contribution of Genetic Background and Data Collection on Adverse Events of Anti-human Immunodeficiency Virus (HIV) Drugs (D:A:D) Clinical Risk Score to Chronic Kidney Disease in Swiss HIV-infected Persons With Normal Baseline Estimated Glomerular Filtration Rate
Clinical Infectious Diseases. 2020. Vol. 70, num. 5, p. 890 – 897. DOI : 10.1093/cid/ciz280.Impact of Genetic and Nongenetic Factors on Body Mass Index and Waist-Hip Ratio Change in HIV-Infected Individuals Initiating Antiretroviral Therapy
Open Forum Infectious Diseases. 2020. Vol. 7, num. 1, p. ofz464. DOI : 10.1093/ofid/ofz464.Data protection and ethics requirements for multisite research with health data: a comparative examination of legislative governance frameworks and the role of data protection technologies
Journal Of Law And The Biosciences. 2020. Vol. 7, num. 1, p. lsaa010. DOI : 10.1093/jlb/lsaa010.Conference Papers
Genome-to-genome analysis identifies an Asian-specific variant in the gene encoding NTCP that leads to specific HBV escape mutations during chronic infection
2020. p. 316 – 317.Using reference-fixed principal components to improve polygenic risk score prediction
2020. p. 134 – 135.An indel in the promoter region of NFKB1 confers protection against infection but increases risk of allergy
2020. p. 311 – 312.Human genomics of the humoral response against polyomaviruses
2020. p. 312 – 313.Is Competition for Resource between Genes a Driving Force of the Omnigenic Architecture?
2020. 48th European Mathematical Genetics Meeting (EMGM), Lausanne, SWITZERLAND, Apr 16-17, 2020. p. 217 – 218.Designing a Tanzanian Specific SNP Array Add-On to Capture Population-Specific Genetic Variations and to Improve Genotype Imputation
2020. 48th European Mathematical Genetics Meeting (EMGM), Lausanne, SWITZERLAND, Apr 16-17, 2020. p. 227 – 227. DOI : 10.1159/000507248.SPHN/PHRT – MedCo in Action: Empowering the Swiss Molecular Tumor Board with Privacy-Preserving and Real-Time Patient Discovery
2020. 30th Medical Informatics Europe (MIE) Conference, Geneva, SWITZERLAND, Apr, 2020. p. 1161 – 1162. DOI : 10.3233/SHTI200345.Reviews
Susceptibility to infection in early life: a growing role for human genetics
Human Genetics. 2020. Vol. 139, num. 6-7, p. 733 – 743. DOI : 10.1007/s00439-019-02109-2.Exploring the interactions between the human and viral genomes
Human Genetics. 2020. Vol. 139, num. 6-7, p. 777 – 781. DOI : 10.1007/s00439-019-02089-3.Theses
HIV host genomics in the era of effective antiretroviral therapy
Lausanne, EPFL, 2020.2019
Journal Articles
Predicting the Occurrence of Variants in RAG1 and RAG2
Journal Of Clinical Immunology. 2019. Vol. 39, num. 7, p. 688 – 701. DOI : 10.1007/s10875-019-00670-z.A comprehensive assessment of demographic, environmental, and host genetic associations with gut microbiome diversity in healthy individuals
Microbiome. 2019. Vol. 7, num. 1, p. 130. DOI : 10.1186/s40168-019-0747-x.Adaptation of hepatitis C virus to interferon lambda polymorphism across multiple viral genotypes
Elife. 2019. Vol. 8, p. e42542. DOI : 10.7554/eLife.42542.HIV Transmission Chains Exhibit Greater HLA-B Homogeneity Than Randomly Expected
Jaids-Journal Of Acquired Immune Deficiency Syndromes. 2019. Vol. 81, num. 5, p. 508 – 515. DOI : 10.1097/QAI.0000000000002077.Determinants of HIV-1 reservoir size and long-term dynamics during suppressive ART
Nature Communications. 2019. Vol. 10, p. 3193. DOI : 10.1038/s41467-019-10884-9.Associations between usual diet and gut microbiota composition: results from the Milieu Interieur cross-sectional study
American Journal Of Clinical Nutrition. 2019. Vol. 109, num. 5, p. 1472 – 1483. DOI : 10.1093/ajcn/nqz029.Human genomics of acute liver failure due to hepatitis B virus infection: An exome sequencing study in liver transplant recipients
Journal Of Viral Hepatitis. 2019. Vol. 26, num. 2, p. 271 – 277. DOI : 10.1111/jvh.13019.Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis
Proceedings Of The National Academy Of Sciences Of The United States Of America. 2019. Vol. 116, num. 3, p. 950 – 959. DOI : 10.1073/pnas.1808403116.HIV peptidome-wide association study reveals patient-specific epitope repertoires associated with HIV control
Proceedings Of The National Academy Of Sciences Of The United States Of America. 2019. Vol. 116, num. 3, p. 944 – 949. DOI : 10.1073/pnas.1812548116.HIV-1 Vpu is a potent transcriptional suppressor of NF-κB-elicited antiviral immune responses
eLife. 2019. Vol. 8, p. e41930. DOI : 10.7554/eLife.41930.Conference Papers
Human genetic determinants of chronic low-grade inflammation in the general population
2019. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1747 – 1748.Rare variants in antiviral response genes drive severe viral respiratory infections in children
2019. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1374 – 1375.Genome-to-genome analysis of Epstein-Barr virus infection
2019. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1365 – 1365.Systems Biology in 874 Patients with Primary Sjogren’s Syndrome Indicates the Predominant Role of Interferon Alpha Compared to Interferon Gamma, Its Association with Systemic Complications, and a New Aspect of the Genetic Contribution of HLA
2019.Reviews
Gender medicine and oncology: report and consensus of an ESMO workshop
Annals Of Oncology. 2019. Vol. 30, num. 12, p. 1914 – 1924. DOI : 10.1093/annonc/mdz414.Effect of Fc Receptor Genetic Diversity on HIV-1 Disease Pathogenesis
Frontiers In Immunology. 2019. Vol. 10, p. 970. DOI : 10.3389/fimmu.2019.00970.2018
Journal Articles
Interferon lambda 3/4 polymorphisms are associated with AIDS-related Kaposi’s sarcoma
Aids. 2018. Vol. 32, num. 18, p. 2759 – 2765. DOI : 10.1097/QAD.0000000000002004.Memory B Cells Activate Brain-Homing, Autoreactive CD4(+) T Cells in Multiple Sclerosis
Cell. 2018. Vol. 175, num. 1, p. 100.e1. DOI : 10.1016/j.cell.2018.08.011.Human genetic variants and age are the strongest predictors of humoral immune responses to common pathogens and vaccines
Genome Medicine. 2018. Vol. 10, num. 1, p. 59. DOI : 10.1186/s13073-018-0568-8.Easy and accurate reconstruction of whole HIV genomes from short-read sequence data with shiver
Virus Evolution. 2018. Vol. 4, num. 1, p. vey007. DOI : 10.1093/ve/vey007.Killer cell immunoglobulin–like receptor 3DL1 variation modifies HLA-B*57 protection against HIV-1
Journal of Clinical Investigation. 2018. Vol. 128, num. 5, p. 1903 – 1912. DOI : 10.1172/JCI98463.Natural variation in the parameters of innate immune cells is preferentially driven by genetic factors
Nature Immunology. 2018. Vol. 19, num. 3, p. 302 – 314. DOI : 10.1038/s41590-018-0049-7.Detection of novel astroviruses MLB1 and MLB2 in the sera of febrile Tanzanian children
Emerging Microbes & Infections. 2018. Vol. 7, num. 1, p. 1 – 3. DOI : 10.1038/s41426-018-0025-1.Are privacy-enhancing technologies for genomic data ready for the clinic? A survey of medical experts of the Swiss HIV Cohort Study
Journal of Biomedical Informatics. 2018. Vol. 79, p. 1 – 6. DOI : 10.1016/j.jbi.2017.12.013.Elevated HLA-A expression impairs HIV control through inhibition of NKG2A-expressing cells
Science. 2018. Vol. 359, num. 6371, p. 86 – 90. DOI : 10.1126/science.aam8825.Correcting for Population Stratification Reduces False Positive and False Negative Results in Joint Analyses of Host and Pathogen Genomes
Frontiers in Genetics. 2018. Vol. 9, p. 266. DOI : 10.3389/fgene.2018.00266.Dissecting HIV Virulence: Heritability of Setpoint Viral Load, CD4+ T Cell Decline and Per-Parasite Pathogenicity
Molecular biology and evolution. 2018. Vol. 35, num. 1, p. 27 – 37. DOI : 10.1093/molbev/msx246.Differential immunodominance hierarchy of CD8+ T cell responses in HLA-B*27:05 and B*27:02-mediated control of HIV-1 infection
Journal of virology. 2018. Vol. 92, num. 4, p. e01685 – 17. DOI : 10.1128/JVI.01685-17.Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives
The Lancet. Infectious Diseases. 2018. Vol. 18, num. 3, p. E64 – E75. DOI : 10.1016/S1473-3099(17)30623-0.The human noncoding genome defined by genetic diversity
Nature Genetics. 2018. Vol. 50, num. 3, p. 333 – 337. DOI : 10.1038/s41588-018-0062-7.Conference Papers
B – T cell interactions activate and maintain brain-homing T cells in multiple sclerosis.
2018. 34th Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS), Berlin, GERMANY, Oct 10-12, 2018. p. 56 – 56.The Serotonin receptor 3E subunit variant HTR3E c.*76G> A is confirmed as a risk factor for IBS-D in females
2018.Theses
Genetic determinants of healthy human immune variance: from humoral response to microbiome diversity
Lausanne, EPFL, 2018.2017
Journal Articles
HLA-B*14:02-Restricted Env-Specific CD8+ T-Cell Activity Has Highly Potent Antiviral Efficacy Associated with Immune Control of HIV Infection
Journal of virology. 2017. Vol. 91, num. 22, p. e00544 – 17. DOI : 10.1128/JVI.00544-17.Genome-to-genome analysis highlights the effect of the human innate and adaptive immune systems on the hepatitis C virus
Nature Genetics. 2017. Vol. 49, num. 5, p. 666 – +. DOI : 10.1038/ng.3835.Severe viral respiratory infections in children with IFIH1 loss-of-function mutations
Proceedings of the National Academy of Sciences of the United States of America. 2017. Vol. 114, num. 31, p. 8342 – 8347. DOI : 10.1073/pnas.1704259114.No Evidence for Association of beta-Defensin Genomic Copy Number with HIV Susceptibility, HIV Load during Clinical Latency, or Progression to AIDS
Annals Of Human Genetics. 2017. Vol. 81, num. 1, p. 27 – 34. DOI : 10.1111/ahg.12182.Neonatal Group B Streptococcal Disease in Otherwise Healthy Infants: Failure of Specific Neonatal Immune Responses
Frontiers In Immunology. 2017. Vol. 8, p. 215. DOI : 10.3389/fimmu.2017.00215.Viral genetic variation accounts for a third of variability in HIV-1 set-point viral load in Europe
Plos Biology. 2017. Vol. 15, num. 6, p. e2001855. DOI : 10.1371/journal.pbio.2001855.Distinctive roles of age, sex, and genetics in shaping transcriptional variation of human immune responses to microbial challenges
Proceedings of the National Academy of Sciences of the United States of America. 2017. Vol. 115, num. 3, p. E488 – E497. DOI : 10.1073/pnas.1714765115.Estimating the Respective Contributions of Human and Viral Genetic Variation to HIV Control
PLoS Computational Biology. 2017. Vol. 13, num. 2, p. e1005339. DOI : 10.1371/journal.pcbi.1005339.Evaluating the Impact of Functional Genetic Variation on HIV-1 Control
The Journal of infectious diseases. 2017. Vol. 216, num. 9, p. 1063 – 1069. DOI : 10.1093/infdis/jix470.SQC: Secure Quality Control for Meta-Analysis of Genome-Wide Association Studies
Bioinformatics. 2017. Vol. 33, num. 15, p. 2273 – 2280. DOI : 10.1093/bioinformatics/btx193.2016
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A privacy-preserving solution for compressed storage and selective retrieval of genomic data
Genome Research. 2016. Vol. 26, num. 12, p. 1687 – 1696. DOI : 10.1101/gr.206870.116.Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study
Open Forum Infectious Diseases. 2016. Vol. 3, num. 2, p. ofw101. DOI : 10.1093/ofid/ofw101.Determinants of HIV-1 broadly neutralizing antibody induction
Nature Medicine. 2016. Vol. 22, num. 11, p. 1260 – 1267. DOI : 10.1038/nm.4187.Familial segregation of group B streptococcal infection in a consanguineous kindred
International Journal Of Infectious Diseases. 2016. Vol. 51, p. 22 – 24. DOI : 10.1016/j.ijid.2016.08.010.Exome Sequencing Reveals Primary Immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis
Frontiers In Immunology. 2016. Vol. 7, p. 357. DOI : 10.3389/fimmu.2016.00357.Privacy-preserving genomic testing in the clinic: a model using HIV treatment
Genetics in medicine : official journal of the American College of Medical Genetics. 2016. Vol. 18, p. 814 – 822. DOI : 10.1038/gim.2015.167.Role of APOBEC3F Gene Variation in HIV-1 Disease Progression and Pneumocystis Pneumonia
Plos Genetics. 2016. Vol. 12, num. 3, p. e1005921. DOI : 10.1371/journal.pgen.1005921.Identification of Siglec-1 null individuals infected with HIV-1
Nature Communications. 2016. Vol. 7, p. 12412. DOI : 10.1038/ncomms12412.Corrigendum: Exome Sequencing reveals Primary immunodeficiencies in Children with Community-Acquired Pseudomonas aeruginosa Sepsis (vol 7, 357, 2016)
Frontiers In Immunology. 2016. Vol. 7, p. 447. DOI : 10.3389/fimmu.2016.00447.Conference Papers
Multiple HCV Amino Acid Variants Associate with Interferon Lambda Polymorphism in Genotype 1a, 1b and 3a Infections
2016. 67th Annual Meeting of the American-Association-for-the-Study-of-Liver-Diseases (AASLD), Boston, MA, NOV 11-15, 2016. p. 33A – 33A.Theses
Host and pathogen genomics of severe pediatric infections
Lausanne, EPFL, 2016.Patents
Method for privacy-preserving medical risk test
US9524370; US2016125141; EP3016011.
2016.2015
Journal Articles
Identification of potential HIV restriction factors by combining evolutionary genomic signatures with functional analyses
Retrovirology. 2015. Vol. 12, p. 41. DOI : 10.1186/s12977-015-0165-5.Human genetic variation in HIV disease: beyond genome-wide association studies
Current opinion in HIV and AIDS. 2015. Vol. 10, num. 2, p. 110 – 5. DOI : 10.1097/COH.0000000000000133.The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected Individuals
The Journal of infectious diseases. 2015. Vol. 212, num. 4, p. 578 – 84. DOI : 10.1093/infdis/jiv089.Privacy in the Genomic Era
ACM Computing Surveys. 2015. Vol. 48, num. 1, p. 6. DOI : 10.1145/2767007.The Characteristics of Heterozygous Protein Truncating Variants in the Human Genome
Plos Computational Biology. 2015. Vol. 11, num. 12, p. e1004647. DOI : 10.1371/journal.pcbi.1004647.Amino Acid Variation in HLA Class II Proteins Is a Major Determinant of Humoral Response to Common Viruses
American Journal Of Human Genetics. 2015. Vol. 97, num. 5, p. 738 – 743. DOI : 10.1016/j.ajhg.2015.09.008.Adaptation on a genomic scale
eLife. 2015. Vol. 4, p. e06193. DOI : 10.7554/eLife.06193.Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load
Proceedings Of The National Academy Of Sciences Of The United States Of America. 2015. Vol. 112, num. 47, p. 14658 – 14663. DOI : 10.1073/pnas.1514867112.Conference Papers
GenoGuard: Protecting Genomic Data against Brute-Force Attacks
2015. 36th IEEE Symposium on Security and Privacy (S&P 2015), San Jose, CA, USA, May 18-20, 2015. p. 447 – 462. DOI : 10.1109/SP.2015.34.Quantifying Genomic Privacy via Inference Attack with High-Order SNV Correlations
2015. 2nd International Workshop on Genome Privacy and Security (in conjunction with IEEE S&P 2015), San Jose, CA, USA, May 21, 2015. p. 32 – 40. DOI : 10.1109/SPW.2015.21.Reviews
The impact of host genetic variation on infection with HIV-1
Nature Immunology. 2015. Vol. 16, num. 6, p. 577 – 583. DOI : 10.1038/ni.3147.Reports
GenoGuard: Protecting Genomic Data Against Brute-Force Attacks
2015