Yann Herault

Essai 11 Octobre 2021

79%

Libre accès

136

Documents

Présentation

Publications

	Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data Maria del Mar Muniz Moreno , Claire Gaveriaux-Ruff , Yann Hérault BMC Bioinformatics, 2023, 24 (1), pp.28. ⟨10.1186/s12859-022-05111-0⟩ Article dans une revue hal-04219165v1
	Timeline of Developmental Defects Generated upon Genetic Inhibition of the Retinoic Acid Receptor Signaling Pathway Marius Teletin , Manuel Mark , Olivia Wendling , Nadège Vernet , Betty Féret Biomedicines, 2023, 11 (1), ⟨10.3390/biomedicines11010198⟩ Article dans une revue hal-04021094v1
	Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts Giuliana Giannuzzi , Nicolas Chatron , Katrin Mannik , Chiara Auwerx , Sylvain Pradervand npj Genomic Medicine, 2022, 7 (1), pp.38. ⟨10.1038/s41525-022-00308-x⟩ Article dans une revue hal-03862012v1
	Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models Hamid Meziane , Marie-Christine Birling , Olivia Wendling , Sophie Leblanc , Aline Dubos Biomedicines, 2022, 10 (12), ⟨10.3390/biomedicines10123148⟩ Article dans une revue hal-04219164v1
	Ts66Yah, a mouse model of Down syndrome with improved construct and face validity Arnaud Duchon , Maria del Mar Muñiz Moreno , Claire Chevalier , Valérie Nalesso , Philippe Andre Disease Models & Mechanisms, 2022, 15 (12), pp.dmm049721. ⟨10.1242/dmm.049721⟩ Article dans une revue hal-03891136v1
	Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease Julia Viard , Yann Loe-Mie , Rachel Daudin , Malik Khelfaoui , Christine Plancon Life Science Alliance, 2022, 5 (12), ⟨10.26508/lsa.202101205⟩ Article dans une revue hal-04219180v1
	Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes Kendall Higgins , Bret A. Moore , Zorana Berberovic , Hibret A. Adissu , Mohammad Eskandarian Scientific Reports, 2022, 12 (1), ⟨10.1038/s41598-022-19710-7⟩ Article dans une revue hal-04217630v1
	The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice Yaping Xue , Mélanie Kremer , Maria del Mar Muniz Moreno , Celeste Chidiac , Romain Lorentz Frontiers in Molecular Neuroscience, 2022, 15, pp.913990. ⟨10.3389/fnmol.2022.913990⟩ Article dans une revue hal-03844438v1
	INFRAFRONTIER quality principles in systemic phenotyping Hilke Ehlich , Heather Cater , Ann Flenniken , Isabelle Goncalves da Cruz , Anne-Marie Mura Mammalian Genome, 2022, 33 (1), pp.120-122. ⟨10.1007/s00335-021-09892-2⟩ Article dans une revue hal-03433476v1
	Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors Tania Tahtouh , Emilie Durieu , Benoit Villiers , Celine Bruyere , Thu Lan Nguyen Journal of Medicinal Chemistry, 2022, 65 (2), pp.1396-1417. ⟨10.1021/acs.jmedchem.1c01141⟩ Article dans une revue hal-03512536v1
	Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome Helin Atas-Ozcan , Véronique Brault , Arnaud Duchon , Yann Hérault Genes, 2021, 12 (11), pp.1833. ⟨10.3390/genes12111833⟩ Article dans une revue hal-03540261v1
	Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM Manuel Mark , Marius Teletin , Olivia Wendling , Jean-Luc Vonesch , Betty Féret Biomedicines, 2021, 9 (7), pp.742. ⟨10.3390/biomedicines9070742⟩ Article dans une revue hal-03357190v1
	Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder Jeremie Courraud , Eric Chater-Diehl , Benjamin Durand , Marie Vincent , Maria del Mar Muniz Moreno Genetics in Medicine, 2021, 23 (11), pp.2150-2159. ⟨10.1038/s41436-021-01263-1⟩ Article dans une revue hal-03269307v1
	The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity Céleste Chidiac , Yaping Xue , Maria del Mar Muniz Moreno , Ameer Abu Bakr Rasheed , Romain Lorentz Frontiers in Pharmacology, 2021, 12, pp.780132. ⟨10.3389/fphar.2021.780132⟩ Article dans une revue hal-03706653v1
	Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project Nicole Mariani , Alessandra Borsini , Charlotte A.M. Cecil , Janine Felix , Sylvain Sebert PLoS ONE, 2021, 16, pp.e0245475. ⟨10.1371/journal.pone.0245475⟩ Article dans une revue hal-03065469v1
	A resource of targeted mutant mouse lines for 5,061 genes Marie-Christine Birling , Atsushi Yoshiki , David Adams , Shinya Ayabe , Arthur Beaudet Nature Genetics, 2021, ⟨10.1038/s41588-021-00825-y⟩ Article dans une revue hal-03065452v1
	Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome Tomer Illouz , Arya Biragyn , Maria Florencia Iulita , Lisi Flores-Aguilar , Mara Dierssen Frontiers in Immunology, 2021, 12, ⟨10.3389/fimmu.2021.621440⟩ Article dans une revue hal-03285772v1
	Droplet digital PCR or quantitative PCR for in-depth genomic and functional validation of genetically altered rodents Loic Lindner , Pauline Cayrou , Thomas W Rosahl , Heather H Zhou , Marie-Christine Birling Methods, 2021, 191, pp.107 - 119. ⟨10.1016/j.ymeth.2021.04.001⟩ Article dans une revue hal-03306827v1
	The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model Yixing Wu , Heather T Whittaker , Suzanna Noy , Karen Cleverley , Veronique Brault PLoS ONE, 2021, 16, ⟨10.1371/journal.pone.0242236⟩ Article dans une revue hal-03373441v1
	High Resolution Episcopic Microscopy for Qualitative and Quantitative Data in Phenotyping Altered Embryos and Adult Mice Using the New “Histo3D” System Olivia Wendling , Didier Hentsch , Hugues Jacobs , Nicolas Lemercier , Serge Taubert Biomedicines, 2021, 9 (7), pp.767. ⟨10.3390/biomedicines9070767⟩ Article dans une revue hal-03433478v1
	Pain behavior in SCN9A (Nav1.7) and SCN10A (Nav1.8) mutant rodent models Yaping Xue , Celeste Chidiac , Yann Herault , Claire Gaveriaux-Ruff Neuroscience Letters, 2021, 753, pp.135844. ⟨10.1016/j.neulet.2021.135844⟩ Article dans une revue hal-03203444v1
	Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society Mara Dierssen , Yann Herault , Pablo Helguera , Maria Martínez de Lagran , Anna Vazquez Molecular Syndromology, 2021, 12 (4), pp.202-218. ⟨10.1159/000514437⟩ Article dans une revue hal-03359724v1
	Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models Sandra Martin Lorenzo , Valérie Nalesso , Claire Chevalier , Marie-Christine Birling , Yann Hérault Molecular Autism, 2021, 12 (1), ⟨10.1186/s13229-020-00405-7⟩ Article dans une revue hal-03187247v1
	Specific Susceptibility to COVID-19 in Adults with Down Syndrome Tomer Illouz , Arya Biragyn , Milana Frenkel-Morgenstern , Orly Weissberg , Alessandro Gorohovski NeuroMolecular Medicine, 2021, 23 (4), pp.561-571. ⟨10.1007/s12017-021-08651-5⟩ Article dans une revue hal-03433463v1
	HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome Nicolas Lebrun , Chloé Delépine , Mohamed Selloum , Hamid Meziane , Juliette Nectoux Brain Research, 2021, 1772, pp.147670. ⟨10.1016/j.brainres.2021.147670⟩ Article dans une revue hal-03433491v1
	Delta Opioid Receptor in Astrocytes Contributes to Neuropathic Cold Pain and Analgesic Tolerance in Female Mice David Reiss , Hervé Maurin , Emilie Audouard , Miriam Martínez-Navarro , Yaping Xue Frontiers in Cellular Neuroscience, 2021, 15, pp.745178. ⟨10.3389/fncel.2021.745178⟩ Article dans une revue hal-03433496v1
	Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome Véronique Brault , Thu Lan Nguyen , Javier Flores-Gutiérrez , Giovanni Iacono , Marie-Christine Birling PLoS Genetics, 2021, 17 (9), pp.e1009777. ⟨10.1371/journal.pgen.1009777⟩ Article dans une revue hal-03373419v1
	Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models Arnaud Duchon , Maria del Mar Muniz Moreno , Sandra Martin Lorenzo , Marcia Priscilla Silva de Souza , Claire Chevalier Human Molecular Genetics, 2021, 30, pp.771 - 788. ⟨10.1093/hmg/ddab012⟩ Article dans une revue hal-03373458v1
	High-throughput discovery of genetic determinants of circadian misalignment Tao Zhang , Pancheng Xie , Yingying Dong , Zhiwei Liu , Fei Zhou PLoS Genetics, 2020, 16 (1), pp.e1008577. ⟨10.1371/journal.pgen.1008577⟩ Article dans une revue hal-03065538v1
	The Deep Genome Project K. C Kent Lloyd , David Adams , Gareth Baynam , Arthur L. Beaudet , Fatima Bosch Genome Biology, 2020, 21 (1), ⟨10.1186/s13059-020-1931-9⟩ Article dans une revue hal-03065423v1
	Soft windowing application to improve analysis of high-throughput phenotyping data Hamed Haselimashhadi , Jeremy Mason , Violeta Munoz-Fuentes , Federico López-Gómez , Kolawole Babalola Bioinformatics, 2020, 36 (5), pp.1492-1500. ⟨10.1093/bioinformatics/btz744⟩ Article dans une revue hal-03065532v1
	Variability in Genome Editing Outcomes: Challenges for Research Reproducibility and Clinical Safety Lydia Teboul , Yann Herault , Sara Wells , Waseem Qasim , Guillaume Pavlovic Molecular Therapy, 2020, 28 (6), pp.1422-1431. ⟨10.1016/j.ymthe.2020.03.015⟩ Article dans une revue hal-03065520v1
	A Small Compound Targeting Prohibitin with Potential Interest for Cognitive Deficit Rescue in Aging mice and Tau Pathology Treatment Anne-Cécile Guyot , Charlotte Leuxe , Clémence Disdier , Nassima Oumata , Narciso Costa Scientific Reports, 2020, 10 (1), pp.1143. ⟨10.1038/s41598-020-57560-3⟩ Article dans une revue hal-02464292v1
	PATHBIO: an international training program for precision mouse phenotyping Jesus Ruberte , Paul Schofield , Cord Brakebusch , Peter Vogel , Yann Herault Mammalian Genome, 2020, 31 (1-2), pp.49-53. ⟨10.1007/s00335-020-09829-1⟩ Article dans une revue hal-03065414v1
	Introduction to Mammalian Genome Special Issue: Epigenetics Johannes Beckers , Raffaele Teperino , Yann Hérault , Martin Hrabé de Angelis Mammalian Genome, 2020, 31 (5-6), pp.117-118. ⟨10.1007/s00335-020-09843-3⟩ Article dans une revue hal-03065510v1
	Human and mouse essentiality screens as a resource for disease gene discovery Pilar Cacheiro , Violeta Muñoz-Fuentes , Stephen Murray , Mary Dickinson , Maja Bucan Nature Communications, 2020, 11 (1), ⟨10.1038/s41467-020-14284-2⟩ Article dans une revue hal-03065535v1
	Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II) Karim Zuhra , Theodora Panagaki , Elisa Randi , Fiona Augsburger , Marc Blondel Biochemical Pharmacology, 2020, 182, pp.114267. ⟨10.1016/j.bcp.2020.114267⟩ Article dans une revue hal-03065495v1
	Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density Anna Swan , Christine Schütt , Jan Rozman , Maria del Mar Muñiz Moreno , Stefan Brandmaier PLoS Genetics, 2020, 16 (12), pp.e1009190. ⟨10.1371/journal.pgen.1009190⟩ Article dans une revue hal-03433523v1
	BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice Renaud Pourpre , Laurent Naudon , Hamid Meziane , Goran Lakisic , Luc Jouneau PLoS ONE, 2020, 15 (5), pp.e0232789. ⟨10.1371/journal.pone.0232789⟩ Article dans une revue pasteur-02585985v1
	HENA, heterogeneous network-based data set for Alzheimer’s disease Elena Sügis , Jerome Dauvillier , Anna Leontjeva , Priit Adler , Valérie Hindie Scientific Data , 2019, 6 (1), pp.151. ⟨10.1038/s41597-019-0152-0⟩ Article dans une revue hal-02388589v1
	Genetic quality assurance and genetic monitoring of laboratory mice and rats: FELASA Working Group Report Fernando Benavides , Thomas Rülicke , Jan-Bas Prins , James Bussell , Ferdinando Scavizzi Laboratory Animals, 2019, pp.002367721986771. ⟨10.1177/0023677219867719⟩ Article dans une revue hal-02388587v1
	Modeling Down syndrome in animals from the early stage to the 4.0 models and next Maria del Mar Muñ Iz Moreno , Veronique Brault , Yann Hérault , Maria Del Mar , Muñiz Moreno Progress in brain research, 2019, ⟨10.1016/bs.pbr.2019.08.001⟩ Article dans une revue hal-02378243v1
	TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis Ekaterina Ivanova , Johan Gilet , Vadym Sulimenko , Arnaud Duchon , Gabrielle Rudolf Nature Communications, 2019, 10 (1), pp.100-110. ⟨10.1038/s41467-019-10081-8⟩ Article dans une revue hal-02388602v1
	214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015 Alan H. Beggs , Gisèle Bonne , Carsten Bönnemann , Sandra Donkervoort , James J. Dowling Neuromuscular Disorders, 2019, 29 (8), pp.644-650. ⟨10.1016/j.nmd.2019.07.002⟩ Article dans une revue hal-02388590v1
	BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation Maxime Sartori , Tiago P. Mendes , Shruti Desai , Alessia Lasorsa , Adrien Herledan Acta Neuropathologica, 2019, 138 (4), pp.631-652. ⟨10.1007/s00401-019-02017-9⟩ Article dans une revue hal-02337166v1
	The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals Giuliana Giannuzzi , Paul Schmidt , Eleonora Porcu , Gilles Willemin , Katherine Munson American Journal of Human Genetics, 2019, 105 (5), pp.947-958. ⟨10.1016/j.ajhg.2019.09.023⟩ Article dans une revue hal-02388582v1
	Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice Valentina Lionello , Anne-Sophie Nicot , Maxime Sartori , Christine Kretz , Pascal Kessler Science Translational Medicine, 2019, 11 (484), pp.eaav1866. ⟨10.1126/scitranslmed.aav1866⟩ Article dans une revue hal-02388606v1
	Long‐lasting correction of in vivo LTP and cognitive deficits of mice modelling Down syndrome with an α5‐selective GABAA inverse agonist Arnaud Duchon , Agnès Gruart , Christelle Albac , Benoît Delatour , Javier Zorrilla de San Martin British Journal of Pharmacology, 2019, ⟨10.1111/bph.14903⟩ Article dans une revue hal-02388584v1
	Ultrasound-Guided Approaches to Improve Orthotopic Mouse Xenograft Models for Hepatocellular Carcinoma G Bou About , E Thiebault , M Wattenhofer-Donze , H Jacobs , A Guimond Current Protocols in Mouse Biology, 2019, 9 (2), ⟨10.1002/cpmo.62⟩ Article dans une revue hal-02379915v1
	Optimizing PCR for Mouse Genotyping: Recommendations for Reliable, Rapid, Cost Effective, Robust and Adaptable to High‐Throughput Genotyping Protocol for Any Type of Mutation Sylvie Jacquot , Nathalie Chartoire , Francoise Piguet , Yann Hérault , Guillaume Pavlovic Current Protocols in Mouse Biology, 2019, 9 (4), ⟨10.1002/cpmo.65⟩ Article dans une revue hal-02388398v1
	Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a Damien Marechal , Véronique Brault , Alice Leon , Dehren Martin , Patricia Pereira Human Molecular Genetics, 2019, 00, pp.1 - 17. ⟨10.1093/hmg/ddy447⟩ Article dans une revue hal-02376400v1
	Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models Benoit Souchet , Arnaud Duchon , Yuchen Gu , Julien Dairou , Claire Chevalier Scientific Reports, 2019, 9, pp.3914. ⟨10.1038/s41598-019-40328-9⟩ Article dans une revue hal-02066761v1
	Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development Sandra Martin Lorenzo , Hongying Li , Yuqi Qiu , Thomas Arbogast , Sandra Martin Lorenzo Cell Reports, 2019, 28 (13), pp.3320-3328.e4. ⟨10.1016/j.celrep.2019.08.071⟩ Article dans une revue hal-02388586v1
	A Population Study of Common Ocular Abnormalities in C57BL/6N rd8 Mice Bret A Moore , Michel Roux , Lionel Sebbag , Ann Cooper , Sydney G Edwards Investigative Ophthalmology & Visual Science, 2018, 59 (6), pp.2252. ⟨10.1167/iovs.17-23513⟩ Article dans une revue hal-02361529v1
	Hepatocyte SHP deficiency protects mice from acetaminophen-evoked liver injury in a JNK-signaling regulation and GADD45beta-dependent manner Yong-Hoon Kim , Jung-Ran Noh , Jung Hwan Hwang , Kyoung-Shim Kim , Dong-Hee Choi Archives of Toxicology, 2018, 92 (8), pp.2563-2572. ⟨10.1007/s00204-018-2247-3⟩ Article dans une revue hal-03670947v1
	Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome G. Iacono , A. Dubos , H. Meziane , M. Benevento , E. Habibi Nucleic Acids Research, 2018, 46 (10), pp.4950-4965. ⟨10.1093/nar/gky196⟩ Article dans une revue hal-02187058v1
	A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations Aline Dubos , Hamid Meziane , Giovanni Iacono , Aurore Curie , Fabrice Riet Human Molecular Genetics, 2018, 27 (12), pp.2138-2153. ⟨10.1093/hmg/ddy122⟩ Article dans une revue hal-03664342v1
	Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A Thu Lan Nguyen , Arnaud Duchon , Antigoni Manousopoulou , Nadège Loaëc , Benoît Villiers Disease Models & Mechanisms, 2018, 11 (9), pp.dmm035634. ⟨10.1242/dmm.035634⟩ Article dans une revue hal-01862465v1
	Synaptic dysfunction in amygdala in intellectual disorder models Marianne Aincy , Hamid Meziane , Yann Herault , Yann Humeau Progress in Neuro-Psychopharmacology and Biological Psychiatry, 2018, 84, pp.392-397. ⟨10.1016/j.pnpbp.2017.07.028⟩ Article dans une revue hal-03065430v1
	Identification of genetic elements in metabolism by high-throughput mouse phenotyping Jan Rozman , Birgit Rathkolb , Manuela Oestereicher , Chrsitine Schutt , Akash Chavan Ravindranath Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-017-01995-2⟩ Article dans une revue hal-03670945v1
	Identification of genes required for eye development by high-throughput screening of mouse knockouts Bret A Moore , Brian Leonard , Lionel Sebbag , Sydney Edwards , Ann Cooper Communications Biology, 2018, 1 (1), ⟨10.1038/s42003-018-0226-0⟩ Article dans une revue hal-02342264v1
	Translating Molecular Advances in Down Syndrome and Fragile X Syndrome Into Therapies Victor Faundez , Ilario De Toma , Barbara Bardoni , Renata Bartesaghi , Dean Nizetic European Neuropsychopharmacology, 2018 Article dans une revue hal-02388397v1
	Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse D. Ung , G Iacono , H Méziane , E. Blanchard , M-A Papon Molecular Psychiatry, 2018, 23 (5), pp.1356-1367. ⟨10.1038/mp.2017.39⟩ Article dans une revue inserm-02443532v1
	Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors Simon Haziza , Nitin Mohan , Yann Loe-Mie , Aude-Marie Lepagnol-Bestel , Sophie Massou Nature Nanotechnology, 2017, 12 (4), pp.322-328. ⟨10.1038/nnano.2016.260⟩ Article dans une revue pasteur-02873510v1
	Rodent models in Down syndrome research: impact and future opportunities Yann Herault , Jean M. Delabar , Elizabeth M. C. Fisher , Victor L. J. Tybulewicz , Eugene Yu Disease Models & Mechanisms, 2017, 23 (3), pp.578-589. ⟨10.1242/dmm.029728⟩ Article dans une revue hal-01626762v1
	WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy Meghna Kannan , Efil Bayam , Christel Wagner , Bruno Rinaldi , Perrine Kretz Proceedings of the National Academy of Sciences of the United States of America, 2017, 114 (44), pp.E9308-E9317. ⟨10.1073/pnas.1713625114⟩ Article dans une revue hal-02378716v1
	Modeling human disease in rodents by CRISPR/Cas9 genome editing Marie-Christine Birling , Yann Herault , Guillaume Pavlovic Mammalian Genome, 2017, 28, pp.291-301. ⟨10.1007/s00335-017-9703-x⟩ Article dans une revue hal-03679167v1
	Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies Olivia Wendling , Marie-France Champy Methlin , Solène Jaubert , Guillaume Pavlovic , Aline Dubos Scientific Reports, 2017, 7 (1), ⟨10.1038/s41598-017-08845-7⟩ Article dans une revue hal-03676411v1
	Introduction to Mammalian Genome Special Issue: Genome Editing Lydia Teboul , Yann Herault , Cynthia Smith , Bruce Whitelaw Mammalian Genome, 2017, 28 (7-8), pp.235-236. ⟨10.1007/s00335-017-9708-5⟩ Article dans une revue hal-03677832v1
	Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition Thomas Arbogast , G Iacono , C Chevalier , N Afinowi , X Houbaert PLoS Genetics, 2017, 13 (7), ⟨10.1371/journal.pgen.1006886⟩ Article dans une revue hal-03679164v1
	Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium Terrence Meehan , Nathalie Conte , David West , Julius Jacobsen , Jeremy Mason Nature Genetics, 2017, 49 (8), pp.1231-1238. ⟨10.1038/ng.3901⟩ Article dans une revue hal-03691170v1
	Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE Marie-Christine Birling , Laurence Schaeffer , Philippe Andre , Loic Lindner , Damien Marechal Scientific Reports, 2017, 7, ⟨10.1038/srep43331⟩ Article dans une revue hal-03677785v1
	Nox4 genetic inhibition in experimental hypertension and metabolic syndrome Ghina Bouabout , Estelle Ayme-Dietrich , Hugues Jacobs , Marie-France Champy Methlin , Marie-Christine Birling Archives of cardiovascular diseases, 2017, 111 (1), pp.41-52. ⟨10.1016/j.acvd.2017.03.011⟩ Article dans une revue hal-03671917v1
	Prevalence of sexual dimorphism in mammalian phenotypic traits Natasha Karp , Jeremy Mason , Arthur Beaudet , Yoav Benjamini , Lynette Bower Nature Communications, 2017, 8, ⟨10.1038/ncomms15475⟩ Article dans une revue hal-03679179v1
	A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction Michael Bowl , Michelle Simon , Neil Ingham , Simon Greenaway , Luis Santos Nature Communications, 2017, 8 (1), ⟨10.1038/s41467-017-00595-4⟩ Article dans une revue hal-03676410v1
	Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus Giovanni Iacono , Marco Benevento , Aline Dubos , Yann Herault , Hans van Bokhoven Scientific Reports, 2017, 7 (1), ⟨10.1038/s41598-017-18287-w⟩ Article dans une revue hal-03677796v1
	A Fast, Easy, and Customizable Eight-Color Flow Cytometric Method for Analysis of the Cellular Content of Bronchoalveolar Lavage Fluid in the Mouse Francois Daubeuf , Julien Becker , Juan Aguilar-Pimentel , Claudine Ebel , Martin Hrabě de Angelis Current Protocols in Mouse Biology, 2017, 7 (2), pp.88-99. ⟨10.1002/cpmo.26⟩ Article dans une revue hal-03676433v1
	Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors: a survey of recent patent literature T.L. Nguyen , Corinne Fruit , Y. Hérault , L. Meijer , Thierry Besson Expert Opinion on Therapeutic Patents, 2017, 27 (11), pp.1183-1199. ⟨10.1080/13543776.2017.1360285⟩ Article dans une revue hal-02046302v1
	Physiological Expression of AMPKγ2 Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice Xiaodong Yang , John Mudgett , Ghina Bou About , Marie-France Champy Methlin , Hugues Jacobs Journal of Biological Chemistry, 2016, 291 (45), pp.23428-23439. ⟨10.1074/jbc.M116.738591⟩ Article dans une revue hal-03445359v1
	DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome Arnaud Duchon , Yann Herault Frontiers in Behavioral Neuroscience, 2016, 10, ⟨10.3389/fnbeh.2016.00104⟩ Article dans une revue hal-03680484v1
	The DNA methyltransferase DNMT3C protects male germ cells from transposon activity Joan Barau , Aurélie Teissandier , Natasha Zamudio , Stéphanie Roy , Valérie Nalesso Science, 2016, 354 (6314), pp.909-912. ⟨10.1126/science.aah5143⟩ Article dans une revue hal-01595412v1
	Aneuploidy screening of embryonic stem cell clones by metaphase karyotyping and droplet digital polymerase chain reaction G. F. Codner , Loic Lindner , A. Caulder , Marie Wattenhofer-Donze , A. Radage BMC Cell Biology, 2016, 17 (1), ⟨10.1186/s12860-016-0108-6⟩ Article dans une revue hal-03680437v1
	High-throughput discovery of novel developmental phenotypes Mary E. Dickinson , Ann M. Flenniken , Xiao Ji , Lydia Teboul , Michael D. Wong Nature, 2016, 537 (7621), pp.508-514. ⟨10.1038/nature19356⟩ Article dans une revue hal-03706651v1
	E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis Perrine Goguet-Rubio , Berfin Seyran , Laurie Gayte , Florence F. Bernex , Anne Sutter Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (39), pp.11004-11009. ⟨10.1073/pnas.1602751113⟩ Article dans une revue inserm-02465232v1
	A suppressor locus for MODY3-diabetes Miguel A Garcia-Gonzalez , Claire Carette , Alessia A Bagattin , Magali Chiral , Parla Makinistoglu Scientific Reports, 2016, 6, pp.33087. ⟨10.1038/srep33087⟩ Article dans une revue inserm-01472157v1
	How Does Circadian Rhythm Impact Salt Sensitivity of Blood Pressure in Mice? A Study in Two Close C57Bl/6 Substrains Roy Combe , John Mudgett , Lahcen El Fertak , Marie-France Champy Methlin , Estelle Ayme-Dietrich PLoS ONE, 2016, 11 (4), pp.e0153472. ⟨10.1371/journal.pone.0153472⟩ Article dans une revue hal-03445368v1
	Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes Thomas Arbogast , Abdel-Mouttalib Ouagazzal , Claire Chevalier , Maksym Kopanitsa , Nurudeen Afinowi PLoS Genetics, 2016, 12 (2), pp.e1005709. ⟨10.1371/journal.pgen.1005709⟩ Article dans une revue inserm-02164433v1
	Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes C Delepine , Hamid Meziane , J Nectoux , M Opitz , A Smith Human Molecular Genetics, 2016, 25 (1), pp.146-157. ⟨10.1093/hmg/ddv464⟩ Article dans une revue hal-03680457v1
	Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability Hamid Meziane , Malik Khelfaoui , Noemi Morello , Bassem Hiba , Eleonora Calcagno Human Molecular Genetics, 2016, 25 (11), pp.2314-2323. ⟨10.1093/hmg/ddw102⟩ Article dans une revue hal-02404671v1
	Opposite Phenotypes of Muscle Strength and Locomotor Function in Mouse Models of Partial Trisomy and Monosomy 21 for the Proximal Hspa13-App Region Veronique Brault , Arnaud Duchon , Caroline Romestaing , Ignasi Sahún , Stéphanie Pothion PLoS Genetics, 2015, 11 : e1005062. ((3)), pp.1-27. ⟨10.1371/journal.pgen.1005062⟩ Article dans une revue hal-01323519v1
	Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models Benoit Souchet , Fayçal Guedj , Zsuza Penke-Verdier , Fabrice Daubigney , Arnaud Duchon Frontiers in Behavioral Neuroscience, 2015, 9, pp.267. ⟨10.3389/fnbeh.2015.00267⟩ Article dans une revue hal-01263753v1
	Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndrome. François Mouton-Liger , Ignasi Sahún , Thibault Collin , Patricia Lopes Pereira , Debora Masini Neurobiology of Disease, 2014, 63, pp.92-106 Article dans une revue hal-01179506v1
	Targeted deletion of kidney glucose-6 phosphatase leads to nephropathy. Julie Clar , Blandine Gri , Julien Calderaro , Marie-Christine Birling , Yann Herault Kidney International, 2014, 86 (4), pp.747-756. ⟨10.1038/ki.2014.102⟩ Article dans une revue inserm-01350891v1
	In vivo 9.4T MRI and 1H MRS for Evaluation of Brain Structural and Metabolic Changes in the Ts65Dn Mouse Model for Down Syndrome. S. Même , N. Joudiou , N. Yousfi , F. Szeremeta , P. Lopes-Pereira World Journal of Neuroscience, 2014, 04 (02), pp.152-163. ⟨10.4236/wjns.2014.42018⟩ Article dans une revue hal-01179464v1
	A comparative phenotypic and genomic analysis of C57BL/6J and C57BL/6N mouse strains. Michelle Simon , Simon Greenaway , Jacqueline White , Helmut Fuchs , Valérie Gailus-Durner Genome Biology, 2013, 14 (7), pp.R82. ⟨10.1186/gb-2013-14-7-r82⟩ Article dans une revue inserm-00874969v1
	The App-Runx1 Region Is Critical for Birth Defects and Electrocardiographic Dysfunctions Observed in a Down Syndrome Mouse Model Matthieu Raveau , Jacques Lignon , Valérie Nalesso , Arnaud Duchon , Yoram Groner PLoS Genetics, 2012, 8 (5), pp.e1002724. ⟨10.1371/journal.pgen.1002724⟩ Article dans une revue hal-03359718v1
	Specific targeting of the GABA-A receptor α5 subtype by a selective inverse agonist restores cognitive deficits in Down syndrome mice. Jérôme Braudeau , B. Delatour , Arnaud Duchon , Philippe Lopes Pereira , Luce Dauphinot Journal of Psychopharmacology, 2011, 25 (8), pp.1030-42. ⟨10.1177/0269881111405366⟩ Article dans une revue hal-00634143v1
	Chronic Treatment with a Promnesiant GABA-A α5-Selective Inverse Agonist Increases Immediate Early Genes Expression during Memory Processing in Mice and Rectifies Their Expression Levels in a Down Syndrome Mouse Model. J. Braudeau , L. Dauphinot , A. Duchon , A. Loistron , R. H. Dodd Adv Pharmacol Sci, 2011, 2011, pp.e-153218. ⟨10.1155/2011/153218⟩ Article dans une revue hal-00764914v1
	Missense mutation in the second RNA binding domain reveals a role for Prkra (PACT/RAX) during skull development Benjamin K. Dickerman , Christine L. White , Claire Chevalier , Valerie Nalesso , Cyril Charles PLoS ONE, 2011, 6 (12), pp.e28537. ⟨10.1371/journal.pone.0028537⟩ Article dans une revue hal-01129622v1
	Down syndrome: from understanding the neurobiology to therapy Katheleen Gardiner , Yann Hérault , Ira T. Lott , Stylianos E. Antonarakis , Roger H. Reeves Journal of Neuroscience, 2010, 30 (45), pp.14943-14945. ⟨10.1523/JNEUROSCI.3728-10.2010⟩ Article dans une revue hal-04031309v1
	Les modèles animaux en recherche biomédicale M. Malissen , V. Vallet-Erdtmann , Florian Jean Louis Guillou , Y. Hérault , J. Ewbank Biofutur, 2010, 314, pp.34-38 Article dans une revue hal-01129411v1
	Controlled somatic and germline copy number variation in the mouse model Yann Hérault , Arnaud Duchon , Damien Maréchal , Matthieu Raveau , Patricia L. Pereira Current Genomics, 2010, 11 (6), pp.470-480. ⟨10.2174/138920210793176038⟩ Article dans une revue hal-04014327v1
	Aneuploidy: from a physiological mechanism of variance to down syndrome. Mara Dierssen , Yann Herault , Xavier Estivill Physiological Reviews, 2009, 89 (3), pp.887-920. ⟨10.1152/physrev.00032.2007⟩ Article dans une revue hal-00408268v1
	Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres. Randal X Moldrich , Luce Dauphinot , Julien Laffaire , Tania Vitalis , Yann Hérault Journal of Neuroscience Research, 2009, 87 (14), pp.3143-3152 ⟨10.1002/jnr.22131⟩ Article dans une revue hal-00408277v1
	Heme oxygenase-1 accelerates cutaneous wound healing in mice. Anna Grochot-Przeczek , Radoslaw Lach , Jacek Mis , Klaudia Skrzypek , Malgorzata Gozdecka PLoS ONE, 2009, 4 (6), pp.e5803. ⟨10.1371/journal.pone.0005803⟩ Article dans une revue hal-00408274v1
	Fork Stalling and Template Switching (FOSTES) as a Mechanism for Poly-Alanine Tract Expansion Affecting the DYC Mutant of HOXD13, a New Murine Model of Synpolydactyly. Olivier Cocquempot , Veronique Brault , Charles Babinet , Yann Herault Genetics, 2009, 183 (1), epub ahead of print. ⟨10.1534/genetics.109.104695⟩ Article dans une revue hal-00408270v1
	Gene expression signature of cerebellar hypoplasia in a mouse model of Down syndrome during postnatal development. Julien Laffaire , Isabelle Rivals , Luce Dauphinot , Fabien Pasteau , Rosine Wehrle BMC Genomics, 2009, 10 (138), pp.138. ⟨10.1186/1471-2164-10-138⟩ Article dans une revue hal-00804586v1
	Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination. Arnaud Duchon , Vanessa Besson , Patricia Lopes Pereira , Laetitia Magnol , Yann Hérault Genetics, 2008, 180 (1), pp.51-9. ⟨10.1534/genetics.108.092312⟩ Article dans une revue hal-00408291v1
	Inducing segmental aneuploid mosaicism in the mouse through targeted asymmetric sister chromatid event of recombination. A. Duchon , V. Besson , P.L. Pereira , Laetitia Magnol , Y. Herault Genetics, 2008, 180, pp.51-59. ⟨10.1534/j.genetics.108.092312⟩ Article dans une revue hal-01211840v1
	Proteomic shifts in embryonic stem cells with gene dose modifications suggest the presence of balancer proteins in protein regulatory networks. Lei Mao , Claus Zabel , Marion Herrmann , Tobias Nolden , Florian Mertes PLoS ONE, 2007, 2 (11), pp.e1218. ⟨10.1371/journal.pone.0001218⟩ Article dans une revue hal-00408296v1
	KIT is required for hepatic function during mouse post-natal development. Laetitia Magnol , Marie-Clémence Chevallier , Valérie Nalesso , Stéphanie Retif , Helmut Fuchs BMC Developmental Biology, 2007, 7 (81), pp.81. ⟨10.1186/1471-213X-7-81⟩ Article dans une revue hal-00408328v1
	Cre/loxP-mediated chromosome engineering of the mouse genome. V. Brault , V. Besson , L. Magnol , A. Duchon , Y. Hérault Handb Exp Pharmacol, 2007, 178, pp.29-48. ⟨10.1007/978-3-540-35109-2_2⟩ Article dans une revue hal-00408334v1
	Modeling the monosomy for the telomeric part of human chromosome 21 reveals haploinsufficient genes modulating the inflammatory and airway responses. Vanessa Besson , Véronique Brault , Arnaud Duchon , Dieudonnée Togbe , Jean-Charles Bizot Human Molecular Genetics, 2007, 16 (17), pp.2040-52. ⟨10.1093/hmg/ddm152⟩ Article dans une revue hal-00408331v1
	Modeling chromosomes in mouse to explore the function of genes, genomic disorders, and chromosomal organization. Véronique Brault , Patricia Pereira , Arnaud Duchon , Yann Hérault PLoS Genetics, 2006, 2 (7), pp.e86. ⟨10.1371/journal.pgen.0020086⟩ Article dans une revue hal-00408337v1
	Modeling chromosomes in mouse to explore the function of genes, genomic disorders and chromosomal organisation V. Brault , P. Pereira , A. Duchon , Y. Hérault PLoS Genetics, 2006, in press, in press Article dans une revue hal-00096002v1
	Training and aging modulate the loss-of balance phenotype observed in a new ENU-induced allele of Otopetrin1 V. Besson , V. Nalesso , A. Herpin , Bizot J.-C. , N. Messaddeq Biology of the Cell, 2005, 97, pp.787-98 Article dans une revue hal-00094541v1
	Training and aging modulate the loss-of-balance phenotype observed in a new ENU-induced allele of Otopetrin1. Vanessa Besson , Valérie Nalesso , Alexandre Herpin , Jean-Charles Bizot , Nadia Messaddeq Biology of the Cell, 2005, 97 (10), pp.787-98. ⟨10.1042/BC20040525⟩ Article dans une revue hal-00187441v1
	EMPReSS: standardised phenotype screens for functional annotation of the mouse genome P. Brown , Sdm Chambon , M. Hrabe de Angelis , V. Braulty , Y. Herault Nature Genetics, 2005, 37, pp.1755 Article dans une revue hal-00094570v1
	Evolutionnary conserved sequences are required for the insulation of the vertebrate HoxD complex in neural cells M. Kmita , B. Tarchini , D. Duboule , Y. Hérault Development (Cambridge, England), 2003, 129, pp.5521-5528 Article dans une revue hal-00095165v1
	Genetics of dark skin in mice K.R. Fitch , K.A. Mcgowan , C.D. van Raamsdonk , H. Fuchs , A. Puech Genes and Development, 2003, 17, pp.214-228 Article dans une revue hal-00095121v1
	A nested deletion approach to generate CRE deleter mice with progressive Hox profiles Y. Hérault , M. Kmita , Shawaya Cc , D. Duboule International Journal of Developmental Biology, 2003, 46, pp.186-191 Article dans une revue hal-00095162v1
	Serial deletions and duplications suggests a mechanism for the collinearity of Hoxd genes in limbs M. Kmita , N. Fradeau , Y. Hérault , D. Duboule Nature, 2003, 420, pp.145-150 Article dans une revue hal-00095170v1
	Serum factors and v-src control two complementary mitogenic pathways in quail neuroretinal cells in culture. G. Gillet , D. Michel , P. Crisanti , M. Guerin , Y. Herault Oncogene, 1993, 8, pp.565-574 Article dans une revue hal-00314337v1

	Serotonin 2B receptor potentiates erythropoietin-induced mobilization of endothelial progenitor cells: contribution to hypoxic pulmonary arterial hypertension? Estelle Ayme-Dietrich , Jerome Becker , Ghina Bou About , Luc Maroteaux , Lahcen El Fertak Annual Meeting of French Society of Pharmacology and Therapeutics, and INSERM Clinical Research Centers (CIC), Jun 2018, Toulouse, France Communication dans un congrès hal-03960373v1
	Identification d'une nouvelle ADN méthyltransférase « DNMT3C » qui protège les cellules germinales mâles de l'activité des transposons Joan Barau , Aurélie Teissandier , Natasha Zamudio , Stéphanie Roy , Valerie Nalesso 3. Journée de Séminaires du Département Phase sur l'Epigénétique EpiPhase, May 2017, Jouy-en-Josas, France Communication dans un congrès hal-01603099v1
	WD40-repeat 47 is essential for brain development via microtubule-mediated processes and autophagy Binnaz Yalcin , Meghna Kannan , Christel Wagner , Marna Roos , Bruno Rinaldi 51st European Society of Human Genetics (ESHG) Conference, May 2017, Milano, Italy. pp.111 Communication dans un congrès hal-02378786v1
	The questions you should ask yourself for efficient CRISPR/Cas9 genome editing Guillaume Pavlovic , Pascale Mercier , Valérie Risson , Philippe Schmitt , Marie-Christine Birling 13. Transgenic technology meeting, Mar 2016, Prague, Czech Republic Communication dans un congrès hal-02743699v1
	Characterization of new genomic regions involved in male reproduction by ENU-mediated chemical mutagenesis strategy Sophie Fouchécourt , E. Desale , V. Nalesso , Betty Fumel , P. Lopes Pereira 16. European Testis Workshop on Molecular and Cellular Endocrinology, May 2010, Ile d'Elbe, Italy. n.p Communication dans un congrès hal-02815234v1
	MEMRI for the morphological and functional study of mouse brain: application to the Down syndrome Patricia Lopes-Pereira , Ahmad Almhdie , Paulo Loureiro de Sousa , Bich-Thuy Doan , Sandra Même 17th Scientific Meeting & Exhibition, Apr 2009, Honolulu, United States Communication dans un congrès hal-00608083v1
	Chan-Vese based method to segment mouse brain MRI images: application to cerebral malformation analysis in trisomy 21 Ahmad Almhdie , Patricia Lopes-Pereira , Sandra Même , Caroline Colombier , Veronique Brault Eusipco 2009, Aug 2009, Glasgow, United Kingdom Communication dans un congrès hal-00608092v1

	DYRK1A up-regulation specifically impairs a presynaptic form of long-term potentiation Aude-Marie Lepagnol-Bestel , Simon Haziza , Julia Viard , Paul A. Salin , Valérie Crépel 2019, ⟨10.1101/645200⟩ Autre publication scientifique hal-03060184v1

	A 16p11.2 deletion mouse model displays quantitatively and qualitatively different behaviours in sociability and social novelty over short- and long-term observation Anna Rusu , Claire Chevalier , Fabrice de Chaumont , Valérie Nalesso , Véronique Brault 2022 Pré-publication, Document de travail hal-03803875v1
	Multi-influential interactions alters behaviour and cognition through six main biological cascades in Down syndrome mouse models Arnaud Duchon , Maria del Mar Muñiz Moreno , Sandra Martin Lorenzo , Márcia Priscilla Silva de Souza , Claire Chevalier 2021 Pré-publication, Document de travail hal-03091174v1
	Pioglitazone improves deficits of Fmr1-KO mouse model of Fragile X syndrome by interfering with excessive diacylglycerol signaling Andréa Geoffroy , Karima Habbas , Boglarka Zambo , Laetitia Schramm , Arnaud Duchon 2020 Pré-publication, Document de travail hal-03028259v1
	BIN1 genetic risk factor for Alzheimer is sufficient to induce early structural tract alterations in entorhinal cortex-dentate gyrus pathway and related hippocampal multi-scale impairments R Daudin , D Marechal , Q Wang , Y Abe , N Bourg 2020 Pré-publication, Document de travail hal-03065480v1
	Chr21 protein-protein interactions: enrichment in products involved in intellectual disabilities, autism and Late Onset Alzheimer Disease Julia Viard , Yann Loe-Mie , Rachel Daudin , Malik Khelfaoui , Christine Plancon 2020 Pré-publication, Document de travail hal-03065473v1

Yann Herault

Présentation

Publications

Gdaphen, R pipeline to identify the most important qualitative and quantitative predictor variables from phenotypic data

Timeline of Developmental Defects Generated upon Genetic Inhibition of the Retinoic Acid Receptor Signaling Pathway

Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts

Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models

Ts66Yah, a mouse model of Down syndrome with improved construct and face validity

Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease

Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes

The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice

INFRAFRONTIER quality principles in systemic phenotyping

Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors

Dyrk1a from Gene Function in Development and Physiology to Dosage Correction across Life Span in Down Syndrome

Pathogenesis of Anorectal Malformations in Retinoic Acid Receptor Knockout Mice Studied by HREM

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

The Human SCN10AG1662S Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity

Identifying Causative Mechanisms Linking Early-Life Stress to Psycho-Cardio-Metabolic Multi-Morbidity: The EarlyCause Project

A resource of targeted mutant mouse lines for 5,061 genes

Immune Dysregulation and the Increased Risk of Complications and Mortality Following Respiratory Tract Infections in Adults With Down Syndrome

Droplet digital PCR or quantitative PCR for in-depth genomic and functional validation of genetically altered rodents

The effects of Cstb duplication on APP/amyloid-β pathology and cathepsin B activity in a mouse model

High Resolution Episcopic Microscopy for Qualitative and Quantitative Data in Phenotyping Altered Embryos and Adult Mice Using the New “Histo3D” System

Pain behavior in SCN9A (Nav1.7) and SCN10A (Nav1.8) mutant rodent models

Building the Future Therapies for Down Syndrome: The Third International Conference of the T21 Research Society

Targeting the RHOA pathway improves learning and memory in adult Kctd13 and 16p11.2 deletion mouse models

Specific Susceptibility to COVID-19 in Adults with Down Syndrome

HDAC inhibitor ameliorates behavioral deficits in Mecp2308/y mouse model of Rett syndrome

Delta Opioid Receptor in Astrocytes Contributes to Neuropathic Cold Pain and Analgesic Tolerance in Female Mice

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Multi-influential genetic interactions alter behaviour and cognition through six main biological cascades in Down syndrome mouse models

High-throughput discovery of genetic determinants of circadian misalignment

The Deep Genome Project

Soft windowing application to improve analysis of high-throughput phenotyping data

Variability in Genome Editing Outcomes: Challenges for Research Reproducibility and Clinical Safety

A Small Compound Targeting Prohibitin with Potential Interest for Cognitive Deficit Rescue in Aging mice and Tau Pathology Treatment

PATHBIO: an international training program for precision mouse phenotyping

Introduction to Mammalian Genome Special Issue: Epigenetics

Human and mouse essentiality screens as a resource for disease gene discovery

Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II)

Mouse mutant phenotyping at scale reveals novel genes controlling bone mineral density

BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice

HENA, heterogeneous network-based data set for Alzheimer’s disease

Genetic quality assurance and genetic monitoring of laboratory mice and rats: FELASA Working Group Report

Modeling Down syndrome in animals from the early stage to the 4.0 models and next

TUBG1 missense variants underlying cortical malformations disrupt neuronal locomotion and microtubule dynamics but not neurogenesis

214th ENMC International Workshop: Establishing an international consortium for gene discovery and clinical research for Congenital Muscle Disease, Heemskerk, the Netherlands, 6–18 October 2015

BIN1 recovers tauopathy-induced long-term memory deficits in mice and interacts with Tau through Thr348 phosphorylation

The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice

Long‐lasting correction of in vivo LTP and cognitive deficits of mice modelling Down syndrome with an α5‐selective GABAA inverse agonist

Ultrasound-Guided Approaches to Improve Orthotopic Mouse Xenograft Models for Hepatocellular Carcinoma

Optimizing PCR for Mouse Genotyping: Recommendations for Reliable, Rapid, Cost Effective, Robust and Adaptable to High‐Throughput Genotyping Protocol for Any Type of Mutation

Cbs overdosage is necessary and sufficient to induce cognitive phenotypes in mouse models of Down syndrome and interacts genetically with Dyrk1a

Prenatal treatment with EGCG enriched green tea extract rescues GAD67 related developmental and cognitive defects in Down syndrome mouse models

Oligogenic Effects of 16p11.2 Copy-Number Variation on Craniofacial Development

A Population Study of Common Ocular Abnormalities in C57BL/6N rd8 Mice

Hepatocyte SHP deficiency protects mice from acetaminophen-evoked liver injury in a JNK-signaling regulation and GADD45beta-dependent manner

Increased H3K9 methylation and impaired expression of Protocadherins are associated with the cognitive dysfunctions of the Kleefstra syndrome

A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations

Correction of cognitive deficits in mouse models of Down syndrome by a pharmacological inhibitor of DYRK1A

Synaptic dysfunction in amygdala in intellectual disorder models

Identification of genetic elements in metabolism by high-throughput mouse phenotyping

Identification of genes required for eye development by high-throughput screening of mouse knockouts

Translating Molecular Advances in Down Syndrome and Fragile X Syndrome Into Therapies

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse

Fluorescent nanodiamond tracking reveals intraneuronal transport abnormalities induced by brain-disease-related genetic risk factors

Rodent models in Down syndrome research: impact and future opportunities

WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy

Modeling human disease in rodents by CRISPR/Cas9 genome editing

Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies

Introduction to Mammalian Genome Special Issue: Genome Editing

Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

Efficient and rapid generation of large genomic variants in rats and mice using CRISMERE

Nox4 genetic inhibition in experimental hypertension and metabolic syndrome

Prevalence of sexual dimorphism in mammalian phenotypic traits

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Integrated transcriptional analysis unveils the dynamics of cellular differentiation in the developing mouse hippocampus

A Fast, Easy, and Customizable Eight-Color Flow Cytometric Method for Analysis of the Cellular Content of Bronchoalveolar Lavage Fluid in the Mouse