Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors

Authors: Céline Patte, Roxane M. Pommier, Anthony Ferrari, Felicia Fei-Lei Chung, Maria Ouzounova, Pauline Moullé, Mathieu Richaud, Rita Khoueiry, Maëva Hervieu, Silvia Breusa, Marion Allio, Nicolas Rama, Laura Gérard, Valérie Hervieu, Gilles Poncet, Tanguy Fenouil, Vincent Cahais, Anne-Sophie Sertier, Anne Boland, Delphine Bacq-Daian, Benjamin Ducarouge, Julien C. Marie, Jean-François Deleuze, Alain Viari, Jean-Yves Scoazec, Colette Roche, Patrick Mehlen, Thomas Walter, Benjamin Gibert

Source: Nature Communications, Vol 16, Iss 1, Pp 1-15 (2025)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/03b242f0d40a4793849f8bb80b4b0c1e

Genome sequences of four Ixodes species expands understanding of tick evolution

Authors: Alexandra Cerqueira de Araujo, Benjamin Noel, Anthony Bretaudeau, Karine Labadie, Matéo Boudet, Nachida Tadrent, Benjamin Istace, Salima Kritli, Corinne Cruaud, Robert Olaso, Jean-François Deleuze, Maarten J. Voordouw, Caroline Hervet, Olivier Plantard, Aya Zamoto-Niikura, Thomas Chertemps, Martine Maïbèche, Frédérique Hilliou, Gaëlle Le Goff, Jindřich Chmelař, Vilém Mazák, Mohamed Amine Jmel, Michalis Kotsyfakis, José María Medina, Michael Hackenberg, Ladislav Šimo, Fotini A. Koutroumpa, Patrick Wincker, Petr Kopáček, Jan Perner, Jean-Marc Aury, Claude Rispe

Source: BMC Biology, Vol 23, Iss 1, Pp 1-29 (2025)

Subject Terms: Comparative genomics, Parasite, Hematophagy, Duplication, Retroposition, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1741-7007

Access URL: https://doaj.org/article/62b83288daae4ec3906bc15e122c692c

Deep analysis of the major histocompatibility complex genetic associations using covariate analysis and haploblocks unravels new mechanisms for the molecular etiology of Elite Control in AIDS

Authors: Myriam Rahmouni, Sigrid Le Clerc, Jean-Louis Spadoni, Taoufik Labib, Maxime Tison, Raissa Medina-Santos, Armand Bensussan, Ryad Tamouza, Jean-François Deleuze, Jean-François Zagury

Source: BMC Immunology, Vol 26, Iss 1, Pp 1-22 (2025)

Subject Terms: Elite controllers, HIV-1, AIDS, Genetics, GWAS, HLA, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2172

Access URL: https://doaj.org/article/0431034ab72348adaf2ae02badabd387

MSI expresso: a software for determining MSI status and detecting MSI-related transcription events from RNA sequencing data

Authors: Emmanuel Tubacher, Alexandre How-Kit, Mourad Sahbatou, Alex Duval, Victor Renault, Jean-François Deleuze

Source: Frontiers in Genetics, Vol 16 (2025)

Subject Terms: microsatellite instability, cancer, rnaseq, exon skipping, circos, UTR, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2025.1523278/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/c0438f1fa79b476baf8bf203a932c082

Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.

Authors: François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Fanny Jumeau, Nathalie Rives, Françoise Charbonnier, Céline Derambure, Anne Boland, Robert Olaso, Vincent Meyer, Jean-François Deleuze, Alice Goldenberg, Anne-Marie Guerrot, Camille Charbonnier, Gaël Nicolas

Source: PLoS Genetics, Vol 21, Iss 3, p e1011651 (2025)

Subject Terms: Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1553-7390; https://doaj.org/toc/1553-7404

Access URL: https://doaj.org/article/a2ff1e95ef644702ad1c989d7260cfdc

Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation

Authors: Vincent Jonchère, Hugo Montémont, Enora Le Scanf, Aurélie Siret, Quentin Letourneur, Emmanuel Tubacher, Christophe Battail, Assane Fall, Karim Labreche, Victor Renault, Toky Ratovomanana, Olivier Buhard, Ariane Jolly, Philippe Le Rouzic, Cody Feys, Emmanuelle Despras, Habib Zouali, Rémy Nicolle, Pascale Cervera, Magali Svrcek, Pierre Bourgoin, Hélène Blanché, Anne Boland, Jérémie Lefèvre, Yann Parc, Mehdi Touat, Franck Bielle, Danielle Arzur, Gwennina Cueff, Catherine Le Jossic-Corcos, Gaël Quéré, Gwendal Dujardin, Marc Blondel, Cédric Le Maréchal, Romain Cohen, Thierry André, Florence Coulet, Pierre de la Grange, Aurélien de Reyniès, Jean-François Fléjou, Florence Renaud, Agusti Alentorn, Laurent Corcos, Jean-François Deleuze, Ada Collura, Alex Duval

Source: Genome Biology, Vol 25, Iss 1, Pp 1-26 (2024)

Subject Terms: Colorectal cancer, Mismatch repair deficiency, Microsatellite instability, Whole-exome and RNA sequencing, Alternative splicing, Polypyrimidine U2AF binding site, Biology (General), QH301-705.5, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1474-760X

Access URL: https://doaj.org/article/87efc7be65b6480c8bf4509103a6aab4

Human genetic structure in Northwest France provides new insights into West European historical demography

Authors: Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina

Source: Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/2cfe22713c9047a98436743628f16f58

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Authors: Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-15 (2024)

Subject Terms: Congenital myopathy, Myopathy, Exome sequencing, Genetic diagnosis, Genetic heterogeneity, Phenotypic heterogeneity, Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/2ecd19f0cda141cfa0923df68ca7b619

Genome‐Wide Search for Nonadditive Allele Effects Identifies PSKH2 as Involved in the Variability of Factor V Activity

Authors: Blandine Gendre, Angel Martinez‐Perez, Marcus E. Kleber, Astrid van Hylckama Vlieg, Anne Boland, Robert Olaso, Marine Germain, Gaëlle Munsch, Angela Patricia Moissl, Pierre Suchon, Juan Carlos Souto, José Manuel Soria, Jean‐François Deleuze, Winfried März, Frits R. Rosendaal, Maria Sabater‐Lleal, Pierre‐Emmanuel Morange, David‐Alexandre Trégouët

Source: Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)

Subject Terms: Brown‐Forsythe test, coagulation, factor V plasma levels, non‐additive genetic effects, parent‐of‐origin effects, Diseases of the circulatory (Cardiovascular) system, RC666-701

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9980

Access URL: https://doaj.org/article/becf52ad5d8646cd8abf1c175a980a04

Input of exome sequencing in early‐onset cerebral amyloid angiopathy

Authors: Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Aline Zarea, Anne Boland, Robert Olaso, Jean‐François Deleuze, CAA study group, Elisabeth Tournier‐Lasserve, Gael Nicolas, David Wallon

Source: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 16, Iss 4, Pp n/a-n/a (2024)

Subject Terms: Alzheimer disease, CADASIL, cerebral angiopathy amyloid, genetic risk factors, intracerebral hemorrhage, Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: https://doaj.org/toc/2352-8729

Access URL: https://doaj.org/article/06b0b44dc4d549e1a36520b49a07fea5

TAD boundary deletion causes PITX2-related cardiac electrical and structural defects

Authors: Manon Baudic, Hiroshige Murata, Fernanda M. Bosada, Uirá Souto Melo, Takanori Aizawa, Pierre Lindenbaum, Lieve E. van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal, Taisuke Ishikawa, Hiroya Ushinohama, Sean J. Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker, Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie, Takeshi Kimura, Patrick T. Ellinor, Florence Petit, Yves Dulac, Paul Bru, Anne Boland, Jean-François Deleuze, Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M. Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc

Source: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/973ce46b9b9a4d84b5710238b42950a4

Estimating SARS-CoV-2 infection probabilities with serological data and a Bayesian mixture model

Authors: Benjamin Glemain, Xavier de Lamballerie, Marie Zins, Gianluca Severi, Mathilde Touvier, Jean-François Deleuze, SAPRIS-SERO study group, Nathanaël Lapidus, Fabrice Carrat

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)

Subject Terms: SARS-CoV-2, COVID-19, Bayes’ theorem, Mixture model, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/47bfca899a434bb0b52001d0eec3932c

Positive selection in the genomes of two Papua New Guinean populations at distinct altitude levels

Authors: Mathilde André, Nicolas Brucato, Georgi Hudjasov, Vasili Pankratov, Danat Yermakovich, Francesco Montinaro, Rita Kreevan, Jason Kariwiga, John Muke, Anne Boland, Jean-François Deleuze, Vincent Meyer, Nicholas Evans, Murray P. Cox, Matthew Leavesley, Michael Dannemann, Tõnis Org, Mait Metspalu, Mayukh Mondal, François-Xavier Ricaut

Source: Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/d5c9f645930e48fb9ecbef2fff72864e

SARS-CoV-2 infection prevalence and associated factors among primary healthcare workers in France after the third COVID-19 wave

Authors: Marie Pouquet, Dorine Decarreaux, Laura Di Domenico, Chiara E. Sabbatini, Pol Prévot-Monsacre, Toscane Fourié, Paola Mariela Saba Villarroel, Stephane Priet, Hélène Blanché, Jean-Marc Sebaoun, Jean-François Deleuze, Clément Turbelin, Louise Rossignol, Andréas Werner, Fabienne Kochert, Brigitte Grosgogeat, Pascaline Rabiega, Julien Laupie, Nathalie Abraham, Harold Noël, Sylvie van der Werf, Vittoria Colizza, Fabrice Carrat, Remi Charrel, Xavier de Lamballerie, Thierry Blanchon, Alessandra Falchi

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: SARS-CoV-2, COVID-19, Healthcare workers, Primary healthcare, General population, Prevalence, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/0a4450228efb4701a48df8bfd7c15a4c

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Authors: Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden

Source: Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661

How local reference panels improve imputation in French populations

Authors: Anthony F. Herzig, Lourdes Velo‐Suárez, The FrEx Consortium, The FranceGenRef Consortium, Christian Dina, Richard Redon, Jean-François Deleuze, Emmanuelle Génin

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/accec295e7354bb3b126f58d7cdcf248

Transcriptome-wide association study and Mendelian randomization in pancreatic cancer identifies susceptibility genes and causal relationships with type 2 diabetes and venous thromboembolismResearch in context

Authors: Marcus C.B. Tan, Chelsea A. Isom, Yangzi Liu, David-Alexandre Trégouët, Lang Wu, Dan Zhou, Eric R. Gamazon, Sara Lindstrom, Lu Wang, Erin Smith, William Gordon, Astrid Van Hylckama Vlieg, Mariza De Andrade, Jennifer Brody, Jack Pattee, Jeffrey Haessler, Ben Brumpton, Daniel Chasman, Pierre Suchon, Ming-Huei Chen, Constance Turman, Marine Germain, Kerri Wiggins, James MacDonald, Sigrid Braekkan, Sebastian Armasu, Nathan Pankratz, Rabecca Jackson, Jonas Nielsen, Franco Giulianini, Marja Puurunen, Manal Ibrahim, Susan Heckbert, Theo Bammler, Kelly Frazer, Bryan McCauley, Kent Taylor, James Pankow, Alexander Reiner, Maiken Gabrielsen, Jean-François Deleuze, Chris O'Donnell, Jihye Kim, Barbara McKnight, Peter Kraft, John-Bjarne Hansen, Frits Rosendaal, John Heit, Bruce Psaty, Weihong Tang, Charles Kooperberg, Kristian Hveem, Paul Ridker, Pierre-Emmanuel Morange, Andrew Johnson, Christopher Kabrhel, Nicholas Smith

Source: EBioMedicine, Vol 106, Iss , Pp 105233- (2024)

Subject Terms: Genome-wide association study, Models, Genetic, Polymorphism, Single nucleotide, Case-control studies, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396424002688; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/3420f9e9c9f34b658ac5d3b0471a4072

Correction: Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19

Authors: Daniela Matuozzo, Estelle Talouarn, Astrid Marchal, Peng Zhang, Jeremy Manry, Yoann Seeleuthner, Yu Zhang, Alexandre Bolze, Matthieu Chaldebas, Baptiste Milisavljevic, Adrian Gervais, Paul Bastard, Takaki Asano, Lucy Bizien, Federica Barzaghi, Hassan Abolhassani, Ahmad Abou Tayoun, Alessandro Aiuti, Ilad Alavi Darazam, Luis M. Allende, Rebeca Alonso-Arias, Andrés Augusto Arias, Gokhan Aytekin, Peter Bergman, Simone Bondesan, Yenan T. Bryceson, Ingrid G. Bustos, Oscar Cabrera-Marante, Sheila Carcel, Paola Carrera, Giorgio Casari, Khalil Chaïbi, Roger Colobran, Antonio Condino-Neto, Laura E. Covill, Ottavia M. Delmonte, Loubna El Zein, Carlos Flores, Peter K. Gregersen, Marta Gut, Filomeen Haerynck, Rabih Halwani, Selda Hancerli, Lennart Hammarström, Nevin Hatipoğlu, Adem Karbuz, Sevgi Keles, Christèle Kyheng, Rafael Leon-Lopez, Jose Luis Franco, Davood Mansouri, Javier Martinez-Picado, Ozge Metin Akcan, Isabelle Migeotte, Pierre-Emmanuel Morange, Guillaume Morelle, Andrea Martin-Nalda, Giuseppe Novelli, Antonio Novelli, Tayfun Ozcelik, Figen Palabiyik, Qiang Pan-Hammarström, Rebeca Pérez de Diego, Laura Planas-Serra, Daniel E. Pleguezuelo, Carolina Prando, Aurora Pujol, Luis Felipe Reyes, Jacques G. Rivière, Carlos Rodriguez-Gallego, Julian Rojas, Patrizia Rovere-Querini, Agatha Schlüter, Mohammad Shahrooei, Ali Sobh, Pere Soler-Palacin, Yacine Tandjaoui-Lambiotte, Imran Tipu, Cristina Tresoldi, Jesus Troya, Diederik van de Beek, Mayana Zatz, Pawel Zawadzki, Saleh Zaid Al-Muhsen, Mohammed Faraj Alosaimi, Fahad M. Alsohime, Hagit Baris-Feldman, Manish J. Butte, Stefan N. Constantinescu, Megan A. Cooper, Clifton L. Dalgard, Jacques Fellay, James R. Heath, Yu-Lung Lau, Richard P. Lifton, Tom Maniatis, Trine H. Mogensen, Horst von Bernuth, Alban Lermine, Michel Vidaud, Anne Boland, Jean-François Deleuze, Robert Nussbaum, Amanda Kahn-Kirby, France Mentre, Sarah Tubiana, Guy Gorochov, Florence Tubach, Pierre Hausfater, COVID Human Genetic Effort, COVIDeF Study Group, French COVID Cohort Study Group, CoV-Contact Cohort, COVID Clinicians, Orchestra Working Group, Amsterdam UMC Covid-19 Biobank, NIAID-USUHS COVID Study Group, Isabelle Meyts, Shen-Ying Zhang, Anne Puel, Luigi D. Notarangelo, Stephanie Boisson-Dupuis, Helen C. Su, Bertrand Boisson, Emmanuelle Jouanguy, Jean-Laurent Casanova, Qian Zhang, Laurent Abel, Aurélie Cobat

Source: Genome Medicine, Vol 16, Iss 1, Pp 1-3 (2024)

Subject Terms: Medicine, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1756-994X

Access URL: https://doaj.org/article/8a927eb5859b43cf96c9c3e30c509b07

MYLK*FLNB and DOCK1*LAMA2 gene–gene interactions associated with rheumatoid arthritis in the focal adhesion pathway

Authors: Maëva Veyssiere, Maria del Pilar Rodriguez Ordonez, Smahane Chalabi, Laetitia Michou, François Cornelis, Anne Boland, Robert Olaso, Jean-François Deleuze, Elisabeth Petit-Teixeira, Valérie Chaudru

Source: Frontiers in Genetics, Vol 15 (2024)

Subject Terms: rare variants, pathway enrichment analysis, gene–gene interaction, rheumatoid arthritis, familial sample, Genetics, QH426-470

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1375036/full; https://doaj.org/toc/1664-8021

Access URL: https://doaj.org/article/7325e1972e61498f86b59a1064b0e849

Single cell transcriptome sequencing of stimulated and frozen human peripheral blood mononuclear cells

Authors: Céline Derbois, Marie-Ange Palomares, Jean-François Deleuze, Eric Cabannes, Eric Bonnet

Source: Scientific Data, Vol 10, Iss 1, Pp 1-11 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2052-4463

Access URL: https://doaj.org/article/b8ee24550fba49f58790cdca1dc83b0b