SURFBAT approximates transmission-disequilibrium tests using imputed haplotypes to detect genotype-phenotype associations while being robust to population stratification.

G3 Genes Genomes Genetics · Dec 9, 2024Peer-reviewedGenetics

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

Olivier Quenez, Catherine Schramm, Kévin Cassinari, Aude Nicolas, Joan Groeneveld, Guillaume Huguet, Benjamin Grenier‐Boley, Marc Hulsman, G. Bragi Walters, Itziar de Rojas, Anne Rovelet-Lecrux, Sébastien Feuillette, Laetitia Miguel, Anne-Claire Richard, Stéphane Rousseau, , Betty Marije Tijms

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

medRxiv · Oct 28, 2024 · PreprintGenetic & Genomic Medicine

Genetic variants for head size share genes and pathways with cancer

Maria J. Knol, Raymond A. Poot, Tavia E. Evans, Claudia Liliana Satizábal, Aniket Mishra, Muralidharan Sargurupremraj, Sandra Van der Auwera, Marie‐Gabrielle Duperron, Xueqiu Jian, Isabel Charlotte Hostettler, Dianne H.K. van Dam-Nolen, Sander Lamballais, Mikołaj A. Pawlak, Cora Elizabeth Lewis, Amaia Carrión-Castillo, , Saud Alhusaini

This study identifies 67 genetic loci associated with head size, finding strong overlaps with cancer pathways and genes, suggesting shared genetic mechanisms between head growth and cancer risk.

Cell Reports Medicine · May 1, 2024Peer-reviewedGenomics

Can imputation in a European country be improved by local reference panels? The example of France

Anthony F. Herzig, Lourdes Velo‐Suárez, Principal Investigators, Dominique Campion, Jean‐François Dartigues, Jean‐Charles Lambert, Collaborators, Bioinformatics, Thomas Ludwig, Benjamin Grenier‐Boley, Sébastien Letort, Pierre Lindenbaum, Vincent Meyer, Olivier Quenez, Statistical genetics, , Emmanuelle Génin

The paper evaluates whether using a local reference panel improves imputation accuracy in French individuals compared to a public reference panel, showing benefits of combining both approaches.

Scientific Reports · Jan 3, 2024Peer-reviewedGenetics

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

Henne H. Holstege, Matthijs W. J. de Waal, Niccoló Tesi, Sven J. van der Lee, Christa M. de Geus, Rosalina M.L. van Spaendonk, Maartje J. Vogel, Shahzad Ahmad, Najaf Amin, Philippe Amouyel, Gary W. Beecham, Céline Bellenguez, Claudine Berr, Joshua C. Bis, Anne Boland, , Jennifer S. Yokoyama

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

medRxiv · Jul 13, 2023 · PreprintGenetic & Genomic Medicine

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

Henne H. Holstege, Marc Hulsman, Camille Charbonnier, Benjamin Grenier‐Boley, Olivier Quenez, Detelina Grozeva, Jeroen van Rooij, Rebecca Sims, Shahzad Ahmad, Najaf Amin, Penny J. Norsworthy, Oriol Dols‐Icardo, Holger Hummerich, Amit Kawalia, Alzheimer's Disease Neuroimaging Initiative Database, , John Hardy

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

Nature Genetics · Nov 21, 2022Peer-reviewedGenetic & Genomic Medicine

Plasma amyloid β levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants

Vincent Damotte, Sven J. van der Lee, Vincent Antoine Chouraki, Benjamin Grenier‐Boley, Jeannette M Simino, Hieab H.H. Adams, Giuseppe Tosto, Charles C. White, Natalie Terzikhan, Carlos Cruchaga, Maria J. Knol, Shuo Li, Susanna Schraen‐Maschke, Megan L. Grove, Claudia Liliana Satizábal, , Cornelia M. van Duijn

Alzheimer s & Dementia · May 18, 2021Peer-reviewedGenetics

Diffusion MRI free water is a sensitive marker of age-related changes in the cingulum

Manon Edde, Guillaume Theaud, François Rheault, Bixente Dilharreguy, Catherine Helmer, Jean‐François Dartigues, Hélène Amieva, Michèle Allard A, Maxime Descoteaux, Gwénaëlle Catheline

This study shows that free water elimination improves the detection of age-related cingulum changes linked to verbal fluency decline in elderly individuals.

PLoS ONE · Nov 20, 2020Peer-reviewedNeuroscience

The Genetic History of France

Aude Saint Pierre, Joanna Giemza, Isabel Alves, Matilde Karakachoff, Marinna Gaudin, Philippe Amouyel, Jean‐François Dartigues, Christophe Tzourio, Martial Monteil, P. Galan, Serge Herçberg, Iain Mathieson, Richard Redon, Emmanuelle Génin, Christian Dina C

This study analyzes SNP-chip data from 2,184 French individuals to identify genetic clusters, detect gene flow barriers, and estimate population size changes, revealing historical demographic patterns.

European Journal of Human Genetics · Feb 10, 2020Peer-reviewedGenetics

Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly

Artem Kim, Clara Savary, Christèle Dubourg, Wilfrid Carré, Charlotte Mouden, Houda Hamdi‐Rozé, Hélène Guyodo, Jérôme Le Douce, Emmanuelle Génin, Dominique Campion, Jean‐François Dartigues, Jean‐François Deleuze, Jean‐Charles Lambert, Richard Redon, Thomas E Ludwig, , Tania Attié‐Bitach

This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.

Brain · Oct 29, 2018Peer-reviewedGenetics