Publications by authors named "Anne Boland"

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Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Olav M Andersen, Matthijs W J de Waal, Giulia Monti, Niccolo Tesi, Anne Mette G Jensen, Anne Boland

Mol Neurodegener· December 2025

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Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing.
Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Anne Boland

Mol Cytogenet· December 2025

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Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes.
Gaëlle Munsch, Florian Thibord, Ohanna C Bezerra, Jennifer A Brody, Astrid van Hylckama Vlieg, Anne Boland

Blood· November 2025

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Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
Salima El Chehadeh, Solveig Heide, Chloé Quélin, Marlène Rio, Henri Margot, Anne Boland

Genome Med· October 2025

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Leveraging knowledge for explainable AI in personalized cancer treatment: challenges and future directions.
Emilia Daghir-Wojtkowiak, Javier Alfaro, Michele Mastromattei, Aleksander Palkowski, Mark Stares, Anne Boland

Front Digit Health· October 2025

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Transferability of European-derived Alzheimer's disease polygenic risk scores across multiancestry populations.
Aude Nicolas, Richard Sherva, Benjamin Grenier-Boley, Yoontae Kim, Masataka Kikuchi, Anne Boland

Nat Genet· July 2025

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Machine learning in Alzheimer's disease genetics.
Matthew Bracher-Smith, Federico Melograna, Brittany Ulm, Céline Bellenguez, Benjamin Grenier-Boley, Anne Boland

Nat Commun· July 2025

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X-chromosome-wide association study for Alzheimer's disease.
Julie Le Borgne, Lissette Gomez, Sami Heikkinen, Najaf Amin, Shahzad Ahmad, Anne Boland

Mol Psychiatry· June 2025

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GWAS meta-analysis of CSF Alzheimer's disease biomarkers 18,948 individuals reveal novel loci and genes regulating lipid metabolism, brain volume and autophagy.
Carlos Cruchaga, Jigyasha Timsina, Chenyang Jiang, Daniel McCartney, Feifei Tao, Anne Boland

Res Sq· May 2025

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Comprehensive molecular portrait reveals genetic diversity and distinct molecular subtypes of small intestinal neuroendocrine tumors.
Céline Patte, Roxane M Pommier, Anthony Ferrari, Felicia Fei-Lei Chung, Maria Ouzounova, Anne Boland

Nat Commun· March 2025

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Parental germline mosaicism in genome-wide phased de novo variants: Recurrence risk assessment and implications for precision genetic counselling.
François Lecoquierre, Nathalie Drouot, Sophie Coutant, Olivier Quenez, Steeve Fourneaux, Anne Boland

PLoS Genet· March 2025

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Genomic Landscape of Thrombosis Recurrence Risk Across Venous Thromboembolism Subtypes.
Gaëlle Munsch, Florian Thibord, Ohanna C Bezerra, Jennifer A Brody, Astrid van Hylckama Vlieg, Anne Boland

medRxiv· December 2024

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Genome-Wide Search for Nonadditive Allele Effects Identifies as Involved in the Variability of Factor V Activity.
Blandine Gendre, Angel Martinez-Perez, Marcus E Kleber, Astrid van Hylckama Vlieg, Anne Boland

J Am Heart Assoc· November 2024

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A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.
Sarah Merz, Valérie Senée, Anne Philippi, Franz Oswald, Mina Shaigan, Anne Boland

Cell Rep· November 2024

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Input of exome sequencing in early-onset cerebral amyloid angiopathy.
Lou Grangeon, Camille Charbonnier, Stéphane Rousseau, Anne Claire Richard, Olivier Quenez, Anne Boland

Alzheimers Dement (Amst)· November 2024

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Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Antoine Rimbert, Damien Duval, Daniel Trujillano, Florence Kyndt, Antoine Jobbe-Duval, Anne Boland

medRxiv· October 2024

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Plasma levels of complement components C5 and C9 are associated with thrombin generation.
Rocío Vacik Díaz, Gaëlle Munsch, Maria Jesus Iglesias, Alejandro Pallares Robles, Manal Ibrahim-Kosta, Anne Boland

J Thromb Haemost· September 2024

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Multi-ancestry polygenic risk scores for venous thromboembolism.
Yon Ho Jee, Florian Thibord, Alicia Dominguez, Corriene Sept, Kristin Boulier, Anne Boland

Hum Mol Genet· September 2024

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Effective requesting method to detect fusion transcripts in chronic myelomonocytic leukemia RNA-seq.
Florence Rufflé, Jérôme Reboul, Anthony Boureux, Benoit Guibert, Chloé Bessière, Anne Boland

NAR Genom Bioinform· September 2024

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Genome-wide investigation of exogenous female hormones, genetic variation, and venous thromboembolism risk.
Emily K Hasser, Jennifer A Brody, Traci M Bartz, Florian Thibord, Ruifang Li-Gao, Anne Boland

J Thromb Haemost· August 2024

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Microsatellite instability at U2AF-binding polypyrimidic tract sites perturbs alternative splicing during colorectal cancer initiation.
Vincent Jonchère, Hugo Montémont, Enora Le Scanf, Aurélie Siret, Quentin Letourneur, Anne Boland

Genome Biol· August 2024

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Human genetic structure in Northwest France provides new insights into West European historical demography.
Isabel Alves, Joanna Giemza, Michael G B Blum, Carolina Bernhardsson, Stéphanie Chatel, Anne Boland

Nat Commun· August 2024

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Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland

Genome Med· July 2024

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Measuring the Efficiency of Purging by non-random Mating in Human Populations.
Romain Laurent, Laure Gineau, José Utge, Sophie Lafosse, Chan Leakhena Phoeung, Anne Boland

Mol Biol Evol· June 2024

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* and DOCK1* gene-gene interactions associated with rheumatoid arthritis in the focal adhesion pathway.
Maëva Veyssiere, Maria Del Pilar Rodriguez Ordonez, Smahane Chalabi, Laetitia Michou, François Cornelis, Anne Boland

Front Genet· May 2024

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