{"entity": "researcher", "timestamp": "2026-08-20T20:40:33.774Z", "family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "affiliations": ["Aix-Marseille Univ, INSERM, INRAE, C2VN, Laboratory of Haematology, CRB Assistance Publique-H\u00f4pitaux de Marseille, HemoVasc (CRB AP-HM HemoVasc), Marseille, France."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48"}}, "publications": [{"entity": "publication", "iuid": "4de3caf2d2cd4dc3adf0900895b32426", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4de3caf2d2cd4dc3adf0900895b32426.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4de3caf2d2cd4dc3adf0900895b32426"}}, "title": "A multiomics approach reveals novel regulators of plasma factor V levels, highlighting CLEC4M as a clearance receptor.", "authors": [{"family": "Munsch", "given": "Ga\u00eblle", "initials": "G", "orcid": "0000-0003-1564-9825", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed62bf6aa35643f283511d68d2aa4b01.json"}}, {"family": "Mohapatra", "given": "Adarsh K", "initials": "AK"}, {"family": "van Hylckama Vlieg", "given": "Astrid", "initials": "A"}, {"family": "Kleber", "given": "Marcus E", "initials": "ME", "orcid": "0000-0003-0663-7275", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/22bc3077d1244542bcd6222f70dd7c96.json"}}, {"family": "Martinez-Perez", "given": "Angel", "initials": "A", "orcid": "0000-0002-5934-1454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0fa8f32fb99f46dcb16d3a64643dbbfa.json"}}, {"family": "Le", "given": "Ngoc-Quynh", "initials": "NQ"}, {"family": "Hindberg", "given": "Kristian Dalsb\u00f8", "initials": "KD", "orcid": 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"orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ca463a0d804b1ab97dac4750563220.json"}}, {"family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}], "type": "journal article", "published": "2025-07-31", "journal": {"title": "Blood", "issn": "1528-0020", "volume": "146", "issue": "5", "pages": "628-637", "issn-l": "0006-4971"}, "abstract": "Coagulation factor V (FV) is a key protein in maintaining the hemostatic balance, with abnormal plasma levels associated with both thrombotic and hemorrhagic conditions. We propose a comprehensive bioinformatic analysis integrating large-scale proteogenomics and transcriptomic data from original and public data sets. We identify a biological fingerprint of 26 new proteins and loci involved in the regulation of plasma FV levels. Furthermore, the messenger RNA expression levels of 10 of these components demonstrate strong correlation in the liver. In addition, we provide experimental evidence for the involvement of one of the newly identified players (CLEC4M) in the clearance of FV. This work opens new avenues for a better understanding of the physiological processes involved in thrombotic and bleeding disorders.", "doi": "10.1182/blood.2024027006", "pmid": "40359434", "labels": [], "xrefs": [{"db": "pii", "key": "537238"}], "notes": [], "created": "2026-08-20T12:18:26.207Z", "modified": "2026-08-20T12:18:26.692Z"}, {"entity": "publication", "iuid": "88d46598d38049e49334326bc3a3c0bc", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/88d46598d38049e49334326bc3a3c0bc.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/88d46598d38049e49334326bc3a3c0bc"}}, "title": "Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.", "authors": [{"family": "Iglesias", "given": "Maria Jesus", "initials": "MJ"}, {"family": "Sanchez-Rivera", "given": "Laura", "initials": "L"}, {"family": "Ibrahim-Kosta", "given": "Manal", "initials": "M"}, {"family": "Naudin", "given": "Cl\u00e9ment", "initials": "C", "orcid": "0000-0002-6777-9587", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f89e25cd7fcc4617ab5299c72fd17e0c.json"}}, {"family": "Munsch", "given": "Ga\u00eblle", "initials": "G", "orcid": "0000-0003-1564-9825", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed62bf6aa35643f283511d68d2aa4b01.json"}}, {"family": "Goumidi", "given": "Louisa", "initials": "L", "orcid": "0000-0003-4164-8471", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7d3df066e5e54e32bb99110289ab8a45.json"}}, {"family": "Farm", "given": "Maria", "initials": "M"}, {"family": "Smith", "given": "Philip M", "initials": "PM"}, {"family": "Thibord", "given": "Florian", "initials": "F"}, {"family": "Kral-Pointner", "given": "Julia Barbara", "initials": "JB"}, {"family": "Hong", "given": "Mun-Gwan", "initials": "MG", "orcid": "0000-0001-8603-8293", "researcher": {"href": 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"0000-0002-0017-7987", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e213b04f8984c8eb00c68f5bc2f6a36.json"}}, {"family": "Koprulu", "given": "Mine", "initials": "M", "orcid": "0000-0001-6870-4539", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e8fa2ddd2cfa4bbeb9c0b043513a6701.json"}}, {"family": "Pietzner", "given": "Maik", "initials": "M", "orcid": "0000-0003-3437-9963", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3304844cece945168cbec0b5e3d9a9cf.json"}}, {"family": "Langenberg", "given": "Claudia", "initials": "C", "orcid": "0000-0002-5017-7344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f287f3248cc24c6cbfc100c249b87418.json"}}, {"family": "Damrauer", "given": "Scott M", "initials": "SM", "orcid": "0000-0001-8009-1632", "researcher": {"href": 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{"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ea446aa574042a295d5f69437402f76.json"}}, {"family": "Renn\u00e9", "given": "Thomas", "initials": "T"}, {"family": "Martinez-Perez", "given": "Angel", "initials": "A", "orcid": "0000-0002-5934-1454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0fa8f32fb99f46dcb16d3a64643dbbfa.json"}}, {"family": "Emmerich", "given": "Joseph", "initials": "J"}, {"family": "Deleuze", "given": "Jean-Francois", "initials": "JF", "orcid": "0000-0002-5358-4463", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/33bb50dc6b8045bd9dbbde4423f66129.json"}}, {"family": "Antovic", "given": "Jovan", "initials": "J"}, {"family": "Soria Fernandez", "given": "Jose Manuel", "initials": "JM"}, {"family": "Assinger", "given": "Alice", "initials": "A", "orcid": "0000-0002-5670-5910", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ccb6bb03693c4c799f4cbb53e6ff7049.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Souto Andres", "given": "Joan Carles", "initials": "JC", "orcid": "0000-0003-2092-5142", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/164af41db2204f2591c719a8b024d32a.json"}}, {"family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Butler", "given": "Lynn Marie", "initials": "LM", "orcid": "0000-0002-2352-8217", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ca98647aea15499485d755977bd0869a.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David-Alexandre", "initials": "DA", "orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ca463a0d804b1ab97dac4750563220.json"}}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6abb3fc822a4cacbf1d45224f2442f5.json"}}], "type": "published erratum", "published": "2023-11-27", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "7752", "issn-l": "2041-1723"}, "abstract": null, "doi": "10.1038/s41467-023-43764-4", "pmid": "38012230", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10682365"}, {"db": "pii", "key": "10.1038/s41467-023-43764-4"}], "notes": [], "created": "2026-08-20T08:53:02.011Z", "modified": "2026-08-20T08:53:02.187Z"}, {"entity": "publication", "iuid": "3eab6f40adba4a1eaa807ee583bf2a28", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3eab6f40adba4a1eaa807ee583bf2a28.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3eab6f40adba4a1eaa807ee583bf2a28"}}, "title": "Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism.", "authors": [{"family": "Iglesias", "given": "Maria Jesus", "initials": "MJ"}, {"family": "Sanchez-Rivera", "given": "Laura", "initials": "L"}, {"family": "Ibrahim-Kosta", "given": "Manal", "initials": "M"}, {"family": "Naudin", "given": "Cl\u00e9ment", "initials": "C", "orcid": "0000-0002-6777-9587", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f89e25cd7fcc4617ab5299c72fd17e0c.json"}}, {"family": "Munsch", "given": "Ga\u00eblle", "initials": "G", "orcid": "0000-0003-1564-9825", "researcher": {"href": 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M", "initials": "DM", "orcid": "0000-0002-4636-5780", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0b81fbf037ec4b4b8ac0013544539f00.json"}}, {"family": "Smith", "given": "Nicholas L", "initials": "NL"}, {"family": "Smadja", "given": "David M", "initials": "DM"}, {"family": "Holmstr\u00f6m", "given": "Margareta", "initials": "M"}, {"family": "Magnusson", "given": "Maria", "initials": "M"}, {"family": "Silveira", "given": "Angela", "initials": "A", "orcid": "0000-0003-2063-4935", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2d8cbafcc7f04ac3adda984af7d85a16.json"}}, {"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M", "orcid": "0000-0002-4858-8056", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9ea446aa574042a295d5f69437402f76.json"}}, {"family": "Renn\u00e9", "given": "Thomas", "initials": "T"}, {"family": "Martinez-Perez", "given": "Angel", "initials": "A", "orcid": "0000-0002-5934-1454", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0fa8f32fb99f46dcb16d3a64643dbbfa.json"}}, {"family": "Emmerich", "given": "Joseph", "initials": "J"}, {"family": "Deleuze", "given": "Jean-Francois", "initials": "JF", "orcid": "0000-0002-5358-4463", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/33bb50dc6b8045bd9dbbde4423f66129.json"}}, {"family": "Antovic", "given": "Jovan", "initials": "J"}, {"family": "Soria Fernandez", "given": "Jose Manuel", "initials": "JM"}, {"family": "Assinger", "given": "Alice", "initials": "A", "orcid": "0000-0002-5670-5910", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ccb6bb03693c4c799f4cbb53e6ff7049.json"}}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Souto Andres", "given": "Joan Carles", "initials": "JC", "orcid": "0000-0003-2092-5142", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/164af41db2204f2591c719a8b024d32a.json"}}, {"family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Butler", "given": "Lynn Marie", "initials": "LM", "orcid": "0000-0002-2352-8217", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ca98647aea15499485d755977bd0869a.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David-Alexandre", "initials": "DA", "orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ca463a0d804b1ab97dac4750563220.json"}}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6abb3fc822a4cacbf1d45224f2442f5.json"}}], "type": "journal article", "published": "2023-06-07", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "14", "issue": "1", "pages": "3280", "issn-l": "2041-1723"}, "abstract": "Venous thromboembolism (VTE) is a common, multi-causal disease with potentially serious short- and long-term complications. In clinical practice, there is a need for improved plasma biomarker-based tools for VTE diagnosis and risk prediction. Here we show, using proteomics profiling to screen plasma from patients with suspected acute VTE, and several case-control studies for VTE, how Complement Factor H Related 5 protein (CFHR5), a regulator of the alternative pathway of complement activation, is a VTE-associated plasma biomarker. In plasma, higher CFHR5 levels are associated with increased thrombin generation potential and recombinant CFHR5 enhanced platelet activation in vitro. GWAS analysis of ~52,000 participants identifies six loci associated with CFHR5 plasma levels, but Mendelian randomization do not demonstrate causality between CFHR5 and VTE. Our results indicate an important role for the regulation of the alternative pathway of complement activation in VTE and that CFHR5 represents a potential diagnostic and/or risk predictive plasma biomarker.", "doi": "10.1038/s41467-023-38383-y", "pmid": "37286573", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10247781"}, {"db": "pii", "key": "10.1038/s41467-023-38383-y"}], "notes": [], "created": "2026-08-20T08:52:37.351Z", "modified": "2026-08-20T08:52:38.261Z"}, {"entity": "publication", "iuid": "3ec6a8c50b8040d28434f5a82bb15d48", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/3ec6a8c50b8040d28434f5a82bb15d48.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/3ec6a8c50b8040d28434f5a82bb15d48"}}, "title": "Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score.", "authors": [{"family": "Bocher", "given": "Ozvan", "initials": "O", "orcid": "0000-0002-2467-9236", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1f1d3808f8e9451d9cdc699a4af0a465.json"}}, {"family": "Ludwig", "given": "Thomas E", "initials": "TE", "orcid": "0000-0002-9996-1084", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14c189a2b52949be95638c28231e01ea.json"}}, {"family": "Oglobinsky", "given": "Marie-Sophie", "initials": "MS"}, {"family": "Marenne", "given": "Ga\u00eblle", "initials": "G", "orcid": "0000-0002-4363-7170", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/90c89e82a28b4df7b242004633de6e32.json"}}, {"family": "Deleuze", "given": "Jean-Fran\u00e7ois", "initials": "JF"}, {"family": "Suryakant", "given": "Suryakant", "initials": "S"}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6abb3fc822a4cacbf1d45224f2442f5.json"}}, {"family": "Morange", "given": "Pierre-Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David-Alexandre", "initials": "DA", "orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ca463a0d804b1ab97dac4750563220.json"}}, {"family": "Perdry", "given": "Herv\u00e9", "initials": "H", "orcid": "0000-0001-7570-1678", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ad398880211a4f2d8a4f9bba21f06bde.json"}}, {"family": "G\u00e9nin", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0003-4117-2813", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee6afc2bfae94624bcb1b055e428a3e7.json"}}], "type": "journal article", "published": "2022-09-00", "journal": {"title": "PLoS Genet", "issn": "1553-7404", "volume": "18", "issue": "9", "pages": "e1009923", "issn-l": "1553-7390"}, "abstract": "Rare variant association tests (RVAT) have been developed to study the contribution of rare variants widely accessible through high-throughput sequencing technologies. RVAT require to aggregate rare variants in testing units and to filter variants to retain only the most likely causal ones. In the exome, genes are natural testing units and variants are usually filtered based on their functional consequences. However, when dealing with whole-genome sequence (WGS) data, both steps are challenging. No natural biological unit is available for aggregating rare variants. Sliding windows procedures have been proposed to circumvent this difficulty, however they are blind to biological information and result in a large number of tests. We propose a new strategy to perform RVAT on WGS data: \"RAVA-FIRST\" (RAre Variant Association using Functionally-InfoRmed STeps) comprising three steps. (1) New testing units are defined genome-wide based on functionally-adjusted Combined Annotation Dependent Depletion (CADD) scores of variants observed in the gnomAD populations, which are referred to as \"CADD regions\". (2) A region-dependent filtering of rare variants is applied in each CADD region. (3) A functionally-informed burden test is performed with sub-scores computed for each genomic category within each CADD region. Both on simulations and real data, RAVA-FIRST was found to outperform other WGS-based RVAT. Applied to a WGS dataset of venous thromboembolism patients, we identified an intergenic region on chromosome 18 enriched for rare variants in early-onset patients. This region that was missed by standard sliding windows procedures is included in a TAD region that contains a strong candidate gene. RAVA-FIRST enables new investigations of rare non-coding variants in complex diseases, facilitated by its implementation in the R package Ravages.", "doi": "10.1371/journal.pgen.1009923", "pmid": "36112662", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC9518893"}, {"db": "pii", "key": "PGENETICS-D-21-01454"}], "notes": [], "created": "2026-08-20T12:43:50.645Z", "modified": "2026-08-20T12:43:50.876Z"}, {"entity": "publication", "iuid": "2548a299f4c7478187ce2687ba99c9f9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/2548a299f4c7478187ce2687ba99c9f9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/2548a299f4c7478187ce2687ba99c9f9"}}, "title": "Elevated plasma Complement Factor H Regulating Protein 5 is associated with venous thromboembolism and COVID-19 severity", "authors": [{"family": "Sanchez-Rivera", "given": "Laura", "initials": "L"}, {"family": "Iglesias", "given": "Maria Jesus", "initials": "MJ"}, {"family": "Ibrahim-Kosta", "given": "Manal", "initials": "M"}, {"family": "Kral-Pointner", "given": "Julia Barbara", "initials": "JB"}, {"family": "Havervall", "given": "Sebastian", "initials": "S"}, {"family": "Goumidi", "given": "Louisa", "initials": "L"}, {"family": "Farm", "given": "Maria", "initials": "M", "orcid": "0000-0003-3696-463X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/540e1fd8a8c04a0fabe3026d0b386c26.json"}}, {"family": "Munsch", "given": "Ga\u00eblle", "initials": "G"}, {"family": "Germain", "given": "Marine", "initials": "M"}, {"family": "Smith", "given": "Philip", "initials": "P"}, {"family": "Hong", "given": "Mun Gwan", "initials": "MG", "orcid": "0000-0001-8603-8293", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d12504acae5c4f31b83f75c3d7786cd4.json"}}, {"family": "Suchon", "given": "Pierre", "initials": "P"}, {"family": "Naudin", "given": "Cl\u00e9ment", "initials": "C"}, {"family": "Boland", "given": "Anne", "initials": "A"}, {"family": "Smadja", "given": "David M", "initials": "DM"}, {"family": "Holmstr\u00f6m", "given": "Margareta", "initials": "M"}, {"family": "Magnusson", "given": "Maria", "initials": "M"}, {"family": "Silveira", "given": "Angela", "initials": "A"}, {"family": "Uhl\u00e9n", "given": "Mathias", "initials": "M"}, {"family": "Renn\u00e9", "given": "Thomas", "initials": "T"}, {"family": "Martinez-Perez", "given": "Angel", "initials": "A"}, {"family": "Emmerich", "given": "Joseph", "initials": "J"}, {"family": "Deleuze", "given": "Jean Francois", "initials": "JF"}, {"family": "Antovic", "given": "Jovan", "initials": "J"}, {"family": "Assinger", "given": "Alice", "initials": "A"}, {"family": "Fernandez", "given": "Jose Manuel Soria", "initials": "JMS"}, {"family": "Th\u00e5lin", "given": "Charlotte", "initials": "C"}, {"family": "Schwenk", "given": "Jochen M", "initials": "JM", "orcid": "0000-0001-8141-8449", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/022e140799b6466ea123319c3d70c76e.json"}}, {"family": "Andres", "given": "Juan Carlos Souto", "initials": "JCS"}, {"family": "Morange", "given": "Pierre Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Butler", "given": "Lynn Marie", "initials": "LM"}, {"family": "Tr\u00e9gou\u00ebt", "given": "David Alexandre", "initials": "DA"}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6abb3fc822a4cacbf1d45224f2442f5.json"}}], "type": "posted-content", "published": "2022-04-21", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2022.04.20.22274046", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:10:56.781Z", "modified": "2026-08-20T10:10:56.887Z"}, {"entity": "publication", "iuid": "a3727f6334934cf680d1865345ae2aba", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/a3727f6334934cf680d1865345ae2aba.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/a3727f6334934cf680d1865345ae2aba"}}, "title": "Testing for association with rare variants in the coding and non-coding genome: RAVA-FIRST, a new approach based on CADD deleteriousness score", "authors": [{"family": "Bocher", "given": "Ozvan", "initials": "O", "orcid": "0000-0002-2467-9236", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1f1d3808f8e9451d9cdc699a4af0a465.json"}}, {"family": "Ludwig", "given": "Thomas E", "initials": "TE"}, {"family": "Marenne", "given": "Ga\u00eblle", "initials": "G"}, {"family": "Deleuze", "given": "Jean Fran\u00e7ois", "initials": "JF"}, {"family": "Suryakant", "given": "Suryakant", "initials": "S"}, {"family": "Odeberg", "given": "Jacob", "initials": "J", "orcid": "0000-0003-0996-1644", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d6abb3fc822a4cacbf1d45224f2442f5.json"}}, {"family": "Morange", "given": "Pierre Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David Alexandre", "initials": "DA", "orcid": "0000-0001-9084-7800", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/74ca463a0d804b1ab97dac4750563220.json"}}, {"family": "Perdry", "given": "Herv\u00e9", "initials": "H"}, {"family": "G\u00e9nin", "given": "Emmanuelle", "initials": "E"}], "type": "posted-content", "published": "2021-11-04", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2021.11.04.467235", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:07:22.192Z", "modified": "2026-08-20T10:07:22.296Z"}, {"entity": "publication", "iuid": "8be0f8ec1ed94ef9b4414067a3f3e7dc", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/8be0f8ec1ed94ef9b4414067a3f3e7dc.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/8be0f8ec1ed94ef9b4414067a3f3e7dc"}}, "title": "An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism", "authors": [{"family": "Razzaq", "given": "Misbah", "initials": "M"}, {"family": "Iglesias", "given": "Maria Jesus", "initials": "MJ"}, {"family": "Ibrahim-Kosta", "given": "Manal", "initials": "M"}, {"family": "Goumidi", "given": "Louisa", "initials": "L"}, {"family": "Soukarieh", "given": "Omar", "initials": "O"}, {"family": "Proust", "given": "Carole", "initials": "C"}, {"family": "Roux", "given": "Maguelonne", "initials": "M"}, {"family": "Suchon", "given": "Pierre", "initials": "P"}, {"family": "Boland", "given": "Anne", "initials": "A"}, {"family": "Daiain", "given": "Delphine", "initials": "D"}, {"family": "Olaso", "given": "Robert", "initials": "R"}, {"family": "Butler", "given": "Lynn", "initials": "L"}, {"family": "Deleuze", "given": "Jean Fran\u00e7ois", "initials": "JF"}, {"family": "Odeberg", "given": "Jacob", "initials": "J"}, {"family": "Morange", "given": "Pierre Emmanuel", "initials": "PE", "orcid": "0000-0002-9065-722X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/50bca11c313740c299901843e86e5d48.json"}}, {"family": "Tr\u00e9gou\u00ebt", "given": "David Alexandre", "initials": "DA"}], "type": "posted-content", "published": "2020-10-06", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2020.10.05.20207001", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T09:59:25.403Z", "modified": "2026-08-20T09:59:25.457Z"}]}