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2024
Journal Articles
Joint host-pathogen genomic analysis identifies hepatitis B virus mutations associated with human NTCP and HLA class I variation
American Journal Of Human Genetics. 2024-06-06. 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. 2024-05-08. DOI : 10.1128/spectrum.00426-24.Bacterial diversity dominates variable macrophage responses of tuberculosis patients in Tanzania
Scientific Reports. 2024-04-23. 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. 2024-02-01. 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. 2024-01-06. 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. 2024-01-01. 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
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 718-718.Prevalence of actionable pharmacogenetic variants in a Swiss hospital cohort
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 700-700.Inborn errors of type I interferon immunity in patients with severe acute hepatitis E
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 451-451.Prevalence of clonal hematopoiesis in people living with HIV
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 443-444.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
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 354-354.The impact of human genetics on Mycobacterium tuberculosis intra-host evolution
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 346-346.Low mitochondrial content marks high health status of human euploid embryos
2024-01-01. 56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, SCOTLAND, JUN 10-13, 2023. p. 101-101.2023
Journal Articles
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. 2023-12-11. 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. 2023-12-08. 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. 2023-12-07. Vol. 10, p. 1282412. DOI : 10.3389/fmolb.2023.1282412.Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency
Nature. 2023-11-08. DOI : 10.1038/s41586-023-06717-x.Africa-specific human genetic variation near CHD1L associates with HIV-1 load
Nature. 2023-08-02. Vol. 620, p. 1025–1030. DOI : 10.1038/s41586-023-06370-4.Variation in African genomes linked to control of HIV
Nature. 2023-08-02. DOI : 10.1038/d41586-023-02277-2.A metagenome-wide association study of HIV disease progression in HIV controllers
Iscience. 2023-07-21. Vol. 26, num. 7, p. 107214. DOI : 10.1016/j.isci.2023.107214.Autoantibodies neutralizing type I IFNs underlie West Nile virus encephalitis in & SIM;40% of patients
Journal Of Experimental Medicine. 2023-06-22. 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. 2023-06-08. 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. 2023-05-24. DOI : 10.1093/infdis/jiad179.Secondary structure of the human mitochondrial genome affects formation of deletions
Bmc Biology. 2023-05-08. Vol. 21, num. 1, p. 103. DOI : 10.1186/s12915-023-01606-1.Viral Genetic Determinants of Prolonged Respiratory Syncytial Virus Infection Among Infants in a Healthy Term Birth Cohort
Journal Of Infectious Diseases. 2023-05-01. Vol. 227, num. 10, p. 1194-1202. DOI : 10.1093/infdis/jiac442.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. 2023-05-01. Vol. 4, num. 5, p. E211-E218. DOI : 10.1016/S2666-7568(23)00037-5.Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Genome Medicine. 2023-04-05. 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. 2023-04-01. Vol. 19, num. 4, p. e1010893. DOI : 10.1371/journal.ppat.1010893.Associations of genetic and infectious risk factors with coronary heart disease
Elife. 2023-02-14. 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. 2023-01-23. 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. 2023-01-18. DOI : 10.1093/eurjpc/zwad012.Reanalysis of mtDNA mutations of human primordial germ cells (PGCs) reveals NUMT contamination and suggests that selection in PGCs may be positive
Mitochondrion. 2023-12-16. Vol. 74, p. 101817. DOI : 10.1016/j.mito.2023.10.005.Genomics of Preaxostyla Flagellates Illuminates the Path Towards the Loss of Mitochondria
Plos Genetics. 2023-12-01. Vol. 19, num. 12, p. e1011050. DOI : 10.1371/journal.pgen.1011050.Genetic features and genomic targets of human KRAB-zinc finger proteins
Genome Research. 2023. DOI : 10.1101/gr.277722.123.Prevalence of CFTR variants in primary immunodeficiency patients with bronchiectasis is an important modifying cofactor
Journal Of Allergy And Clinical Immunology. 2023-07-01. Vol. 152, num. 1, p. 257-265. DOI : 10.1016/j.jaci.2023.01.035.Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene
Genes. 2023-03-01. Vol. 14, num. 3, p. 720. DOI : 10.3390/genes14030720.Conference Papers
Inborn Errors of Type I Interferon Immunity in Patients with Severe Acute Hepatitis E
2023-09-11. p. 14S-14S.A polygenic risk score to predict sudden cardiac arrest in patients with cardiovascular disease
2023-05-11. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 691-691.Host genomic susceptibility to severe respiratory syncytial virus infection
2023-05-11. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 163-164.A polygenic risk score improves the prediction of cardiovascular risk associated with obstructive sleep-apnoea
2023-05-11. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 145-146.Deamination of adenine to guanine is a signature of oxidative damage in mitochondrial DNA
2023-05-11. 55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, AUSTRIA, JUN 11-14, 2022. p. 648-648.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. 2022-12-31. 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. 2022-11-02. DOI : 10.1002/art.42265.The combined impact of persistent infections and human genetic variation on C-reactive protein levels
Bmc Medicine. 2022-11-01. 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. 2022-09-21. 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. 2022-09-13. DOI : 10.1093/cid/ciac758.A Phylogeny-aware GWAS Framework to Correct for Heritable Pathogen Effects on Infectious Disease Traits
Molecular Biology And Evolution. 2022-08-03. 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. 2022-08-01. Vol. 209, num. 3, p. 535-547. DOI : 10.4049/jimmunol.2100685.Improving polygenic prediction with genetically inferred ancestry
Human Genetics And Genomics Advances. 2022-07-14. 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. 2022-05-24. Vol. 119, num. 21, p. e2200413119. DOI : 10.1073/pnas.2200413119.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. 2022-04-27. 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. 2022-04-15. 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. 2022-04-07. Vol. 8, num. 1, p. veac022. DOI : 10.1093/ve/veac022.A highly virulent variant of HIV-1 circulating in the Netherlands
Science. 2022-02-04. 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. 2022-01-12. Vol. 12, num. 1, p. 577. DOI : 10.1038/s41598-021-04308-2.Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations
Plos Computational Biology. 2022-01-01. Vol. 18, num. 1, p. e1009628. DOI : 10.1371/journal.pcbi.1009628.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. 2022-07-15. DOI : 10.1093/hmg/ddac149.Mitochondrial Pseudogenes Suggest Repeated Inter-Species Hybridization among Direct Human Ancestors
Genes. 2022-05-01. Vol. 13, num. 5, p. 810. DOI : 10.3390/genes13050810.Autoantibodies against type I IFNs in patients with Ph-negative myeloproliferative neoplasms
Blood. 2022-04-28. Vol. 139, num. 17, p. 2716-2720. DOI : 10.1182/blood.2021014890.Incomplete Recovery of Zebrafish Retina Following Cryoinjury
Cells. 2022-04-01. Vol. 11, num. 8, p. 1373. DOI : 10.3390/cells11081373.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.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.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.Conference Papers
A polygenic risk score to predict sudden cardiac arrest in patients with cardiovascular disease
2022-04-01. 50th European Mathematical Genetics Meeting (EMGM), Univ Cambridge, MRC Biostatist Unit, Cambridge, ENGLAND, April 21-22, 2022. p. 28-28.Risk of mitochondrial deletions is affected by the global secondary structure of the mitochondrial genome
2022-04-01. p. 438-439.Increased CHIP prevalence amongst people living with HIV
2022-04-01. p. 75-75.A billion-year trend of amino acid substitutions in the mitochondrial genome
2022-04-01. p. 535-535.Mitochondrial mutational spectrum in human cancers is sensitive to cellular hypoxia
2022-04-01. p. 413-414.Reviews
Host genomics of SARS-CoV-2 infection
European Journal Of Human Genetics. 2022-06-30. Vol. 30, p. 908–914. DOI : 10.1038/s41431-022-01136-4.How to: Diagnose inborn errors of intrinsic and innate immunity to viral, bacterial, mycobacterial, and fungal infections
Clinical Microbiology And Infection. 2022-11-01. Vol. 28, num. 11, p. 1441-1448. DOI : 10.1016/j.cmi.2022.07.021.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. 2021-12-16. Vol. 225, num. 9, p. 1581-1591. DOI : 10.1093/infdis/jiab603.Human genomics of the humoral immune response against polyomaviruses
Virus Evolution. 2021-12-01. 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. 2021-11-01. 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. 2021-10-20. 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. 2021-10-11. 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. 2021-10-01. Vol. 53, num. 10, p. 1504-1516. DOI : 10.1038/s41588-021-00935-7.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. 2021-08-01. Vol. 6, num. 62, p. eabl4340. DOI : 10.1126/sciimmunol.abl4340.Genetic variation near CXCL12 is associated with susceptibility to HIV-related non-Hodgkin lymphoma
Haematologica. 2021-08-01. Vol. 106, num. 8, p. 2233-2241. DOI : 10.3324/haematol.2020.247023.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. 2021-06-15. 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. 2021-06-01. Vol. 10, p. e67388. DOI : 10.7554/eLife.67388.Revolutionizing Medical Data Sharing Using Advanced Privacy-Enhancing Technologies: Technical, Legal, and Ethical Synthesis
Journal Of Medical Internet Research. 2021-02-25. Vol. 23, num. 2, p. e25120. DOI : 10.2196/25120.The influence of human genetic variation on Epstein–Barr virus sequence diversity
Scientific Reports. 2021-02-25. Vol. 11, num. 1, p. 4586. DOI : 10.1038/s41598-021-84070-7.Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder
Elife. 2021-12-15. Vol. 10, p. e72559. DOI : 10.7554/eLife.72559.Blood virosphere in febrile Tanzanian children
Emerging Microbes & Infections. 2021-01-01. Vol. 10, num. 1, p. 982-993. DOI : 10.1080/22221751.2021.1925161.Neonatal-Onset Familial Mediterranean Fever in an Infant with Human Parainfluenza Virus-4 Infection
Neonatology. 2021-03-31. Vol. 118, num. 3, p. 359–363. DOI : 10.1159/000514694.Dissemination of Mycobacterium tuberculosis is associated to a SIGLEC1 null variant that limits antigen exchange via trafficking extracellular vesicles
Journal Of Extracellular Vesicles. 2021-01-01. Vol. 10, num. 3, p. e12046. DOI : 10.1002/jev2.12046.Reviews
Immunological lessons from genome-wide association studies of infections
Current Opinion In Immunology. 2021-10-01. Vol. 72, p. 119-125. DOI : 10.1016/j.coi.2021.03.017.HIV-1 and human genetic variation
Nature Reviews Genetics. 2021-06-24. 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. 2020-12-01. 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. 2020-11-15. 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. 2020-11-10. 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. 2020-11-02. 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. 2020-11-01. 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. 2020-10-23. Vol. 370, num. 6515, p. 422. DOI : 10.1126/science.abd4570.Assessing the impact of non-pharmaceutical interventions on SARS-CoV-2 transmission in Switzerland
Swiss Medical Weekly. 2020-05-30. 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. 2020-03-01. 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. 2020-03-01. Vol. 70, num. 5, p. 890-897. DOI : 10.1093/cid/ciz280.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. 2020-01-01. Vol. 7, num. 1, p. lsaa010. DOI : 10.1093/jlb/lsaa010.Polygenic modelling of treatment effect heterogeneity
Genetic Epidemiology. 2020-08-10. Vol. 44, num. 8, p. 868-879. DOI : 10.1002/gepi.22347.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. 2020-01-01. Vol. 7, num. 1, p. ofz464. DOI : 10.1093/ofid/ofz464.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
2020-12-01. p. 316-317.Human genomics of the humoral response against polyomaviruses
2020-12-01. p. 312-313.An indel in the promoter region of NFKB1 confers protection against infection but increases risk of allergy
2020-12-01. p. 311-312.Using reference-fixed principal components to improve polygenic risk score prediction
2020-12-01. p. 134-135.Designing a Tanzanian Specific SNP Array Add-On to Capture Population-Specific Genetic Variations and to Improve Genotype Imputation
2020-07-01. 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
2020-01-01. 30th Medical Informatics Europe (MIE) Conference, Geneva, SWITZERLAND, Apr, 2020. p. 1161-1162. DOI : 10.3233/SHTI200345.Is Competition for Resource between Genes a Driving Force of the Omnigenic Architecture?
2020-07-01. 48th European Mathematical Genetics Meeting (EMGM), Lausanne, SWITZERLAND, Apr 16-17, 2020. p. 217-218.Reviews
Susceptibility to infection in early life: a growing role for human genetics
Human Genetics. 2020-06-01. 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. 2020-06-01. 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. 2019-10-01. 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. 2019-09-13. 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. 2019-09-03. 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. 2019-08-15. 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. 2019-07-19. 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. 2019-05-01. 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. 2019-02-01. 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. 2019-01-15. 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. 2019-01-15. 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
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
2019-10-01.Genome-to-genome analysis of Epstein-Barr virus infection
2019-10-01. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1365-1365.Rare variants in antiviral response genes drive severe viral respiratory infections in children
2019-10-01. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1374-1375.Human genetic determinants of chronic low-grade inflammation in the general population
2019-10-01. 52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, SWEDEN, Jun 15-18, 2019. p. 1747-1748.Reviews
Gender medicine and oncology: report and consensus of an ESMO workshop
Annals Of Oncology. 2019-12-01. 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. 2019-05-09. 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. 2018-11-28. Vol. 32, num. 18, p. 2759-2765. DOI : 10.1097/QAD.0000000000002004.Elevated HLA-A expression impairs HIV control through inhibition of NKG2A-expressing cells
Science. 2018-01-05. Vol. 359, num. 6371, p. 86-90. DOI : 10.1126/science.aam8825.Memory B Cells Activate Brain-Homing, Autoreactive CD4(+) T Cells in Multiple Sclerosis
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Genome Medicine. 2018-07-27. Vol. 10, num. 1, p. 59. DOI : 10.1186/s13073-018-0568-8.Dissecting HIV Virulence: Heritability of Setpoint Viral Load, CD4+ T Cell Decline and Per-Parasite Pathogenicity
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The Serotonin receptor 3E subunit variant HTR3E c.*76G> A is confirmed as a risk factor for IBS-D in females
2018-08-01.B – T cell interactions activate and maintain brain-homing T cells in multiple sclerosis.
2018-10-01. 34th Congress of the European-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ECTRIMS), Berlin, GERMANY, Oct 10-12, 2018. p. 56-56.Theses
Genetic determinants of healthy human immune variance: from humoral response to microbiome diversity
Lausanne, EPFL, 2018.2017
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HLA-B*14:02-Restricted Env-Specific CD8+ T-Cell Activity Has Highly Potent Antiviral Efficacy Associated with Immune Control of HIV Infection
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A privacy-preserving solution for compressed storage and selective retrieval of genomic data
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Open Forum Infectious Diseases. 2016-04-01. Vol. 3, num. 2, p. ofw101. DOI : 10.1093/ofid/ofw101.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.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.Determinants of HIV-1 broadly neutralizing antibody induction
Nature Medicine. 2016. Vol. 22, num. 11, p. 1260-1267. DOI : 10.1038/nm.4187.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.Identification of Siglec-1 null individuals infected with HIV-1
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Genetics in medicine : official journal of the American College of Medical Genetics. 2016. Vol. 18, p. 814-822. DOI : 10.1038/gim.2015.167.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
Amino Acid Variation in HLA Class II Proteins Is a Major Determinant of Humoral Response to Common Viruses
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eLife. 2015. Vol. 4, p. e06193. DOI : 10.7554/eLife.06193.Human genetic variation in HIV disease: beyond genome-wide association studies
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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.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.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