Dr HERAULT Yann

Fiche personne

Coordonnées

IGBMC
1 rue Laurent Fries
BP 10142
67404 ILLKIRCH Cedex

03 88 65 56 57

Territoire

Alsace

Statut

Chercheur

Publications

A quality framework for cryopreserved rodent disease models: INFRAFRONTIER quality principles in EMMA archiving and distribution.

Ehlich H, Blease A, Biju R, Gustems M, Song F, Fessele S, Massimi M, Bozonelos K, Ntafis V, Hiltunen AE, Marschall S, Stoeger C, Khorshidi Z, Ziadi A, Jambou K, Armagno A, Scavizzi F, Raspa M, Fernandez J, Del Hierro MJ, Ayadi A, Pensavalle J, Prevost G, Dufková L, Krupkova M, Nickl P, Krimpenfort P, van de Ven M, Jonkers J, Valera Vázquez G, Raess M, Beckers J, Moles A, Dahlhoff M, Montoliu L, Hérault Y, Hinttala R, Kontoyiannis DL, Sedlacek R, Hrabě de Angelis M, Boersma AA, Matteoni R

Mamm Genome. 2025 12 10;37(1):10

Proteome Signature of Alzheimer-Like Phenotypes in Frontal Cortices From Young and Old Individuals With Down Syndrome.

Di Domenico F, Greco V, Tramutola A, Rataj-Baniowska M, Barone E, Lanzillotta C, Pieroni L, Butterfield DA, Herault Y, Pagnotta S, Cassano T, Head E, Urbani A, Perluigi M

Mol Neurobiol. 2025 11 21;63(1):126

Better understanding of laboratory animal genetics will improve reproducibility.

Pavlovic G, Wells S, Hérault Y, Teboul L

PLoS Biol. 2025 10 30;23(10):e3003464

Ripply3 overdosage induces mid-face shortening through Tbx1 downregulation in Down syndrome models.

Ahumada Saavedra JT, Chevalier C, Bloch Zupan A, Herault Y

PLoS Genet. 2025 09 22;21(9):e1011873

Female C57BL/6J mice perform distinctive urination behaviour accompanied by ultrasonic vocalisation sequences with a stereotyped temporal organisation.

de Chaumont F, Yvenou G, Villalba AP, Hérault Y, Bourgeron T, Ey E

Behav Brain Res. 2025 08 29;:115788

The PTCHD1 protein: a prominent actor in brain function and in neurodevelopmental disorders.

Ung DC, Martin S, Hérault Y, Laumonnier F

Neurosci Biobehav Rev. 2025 07 27;:106307

Interneuron migration defects during corticogenesis contribute to Dyrk1a haploinsufficiency syndrome pathogenesis.

Hinckelmann MV, Dubos A, Artot V, Rudolf G, Nguyen TL, Tilly P, Nalesso V, Muniz Moreno MDM, Birling MC, Godin JD, Brault V, Herault Y

Mol Psychiatry. 2025 07 10;:

Ocular Phenotyping of Knockout Mice Identifies Genes Associated With Late Adult Retinal Phenotypes.

Hang A, Shao A, Shea M, Roux MJ, Imai-Leonard DM, Adams DJ, Amano T, Amarie OV, Berberovic Z, Bour R, Bower L, Leonard BC, Brown SD, Cho SY, Clementson-Mobbs S, D'Souza AJ, Dickinson M, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Heaney J, Hérault Y, Hrabe de Angelis M, Hsu CW, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Salazar J, Seavitt JR, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Sorg T, Stewart M, Tamura M, Tolentino H, Udensi U, Wells S, Wurst W, Yoshiki A, Meziane H, Yiu GC, Sieving PA, Lanoue L, Lloyd KCK, McKerlie C, Moshiri A,

Invest Ophthalmol Vis Sci. 2025 06 2;66(6):64

Systematic Ocular Phenotyping of Knockout Mouse Lines Identifies Genes Associated With Age-Related Corneal Dystrophies.

Briere A, Vo P, Yang B, Adams D, Amano T, Amarie O, Berberovic Z, Bower L, Brown SDM, Burrill S, Cho SY, Clementson-Mobbs S, D'souza A, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Hérault Y, Hrabe de Angelis M, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Meziane H, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Salazar J, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Stewart M, Svenson K, Tamura M, Tolentino H, Wells S, Wurst W, Yoshiki A, Lanoue L, Lloyd KCK, Leonard BC, Roux MJ, McKerlie C, Moshiri A,

Invest Ophthalmol Vis Sci. 2025 05 1;66(5):7

Enhancing Visual Discrimination Task: Optimized Mouse Motivation in the Touchscreen Paradigm.

Jehl J, Riet F, Simonet A, Herault Y

Curr Protoc. 2025 04;5(4):e70126

Dendritic phenotype and proliferation potency in the hippocampal dentate gyrus of the Ts66Yah model of down syndrome.

Emili M, Stagni F, Guidi S, Russo C, Chevalier C, Duchon A, Herault Y, Bartesaghi R

Neurosci Lett. 2025 02 8;:138156

DYRK1A Up-Regulation Specifically Impairs a Presynaptic Form of Long-Term Potentiation.

Lepagnol-Bestel AM, Haziza S, Viard J, Salin PA, Duchon A, Herault Y, Simonneau M

Life (Basel). 2025 01 22;15(2):

Systematic ocular phenotyping of 8,707 knockout mouse lines identifies genes associated with abnormal corneal phenotypes.

Vo P, Imai-Leonard DM, Yang B, Briere A, Shao A, Casanova MI, Adams D, Amano T, Amarie O, Berberovic Z, Bower L, Braun R, Brown S, Burrill S, Cho SY, Clementson-Mobbs S, D'Souza A, Dickinson M, Eskandarian M, Flenniken AM, Fuchs H, Gailus-Durner V, Heaney J, Hérault Y, Angelis MH, Hsu CW, Jin S, Joynson R, Kang YK, Kim H, Masuya H, Meziane H, Murray S, Nam KH, Noh H, Nutter LMJ, Palkova M, Prochazka J, Raishbrook MJ, Riet F, Ryan J, Salazar J, Seavey Z, Seavitt JR, Sedlacek R, Selloum M, Seo KY, Seong JK, Shin HS, Shiroishi T, Stewart M, Svenson K, Tamura M, Tolentino H, Udensi U, Wells S, White J, Willett A, Wotton J, Wurst W, Yoshiki A, ,Lanoue L, Lloyd KCK, Leonard BC, Roux MJ, McKerlie C, Moshiri A

BMC Genomics. 2025 01 20;26(1):48

Genome engineering with Cas9 and AAV repair templates, successes and pitfalls.

Birling MC, Hérault Y, Pavlovic G

Mamm Genome. 2025 01 13;:

Impact of essential genes on the success of genome editing experiments generating 3313 new genetically engineered mouse lines.

Elrick H, Peterson KA, Willis BJ, Lanza DG, Acar EF, Ryder EJ, Teboul L, Kasparek P, Birling MC, Adams DJ, Bradley A, Braun RE, Brown SD, Caulder A, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Duddy G, Gertsenstein M, Goodwin LO, Hérault Y, Lintott LG, Lloyd KCK, Lorenzo I, Mackenzie M, Mallon AM, McKerlie C, Parkinson H, Ramirez-Solis R, Seavitt JR, Sedlacek R, Skarnes WC, Smedley D, Wells S, White JK, Wood JA, ,Murray SA, Heaney JD, Nutter LMJ

Sci Rep. 2024 09 30;14(1):22626

Organotypic 3D cellular models mimicking the epithelio-ectomesenchymal bi-layer during odontogenesis.

Jerbaka F, Gribova V, Rey T, El-Faloussi S, Kawczynski M, Kharouf N, Hérault Y, Arntz Y, Bloch-Zupan A, Bugueno Valdebenito IMM

Tissue Eng Part A. 2024 09 14;:

Rare dentin defects: Understanding the pathophysiological mechanisms of mutations.

Bugueno IM, Rey T, Jimenez-Armijo A, Kawczynski M, Kharouf N, Manière MC, Herault Y, Bloch-Zupan A, Haushalter-Laugel V

Genes Dis. 2024 09;11(5):101303

Editorial: Cellular and molecular mechanisms in social and repetitive behaviours: a focus on cortico-striatal circuitry.

Morella I, Brambilla R, Herault Y

Front Cell Neurosci. 2024 08 8;18:1470882

Improving laboratory animal genetic reporting: LAG-R guidelines.

Teboul L, Amos-Landgraf J, Benavides FJ, Birling MC, Brown SDM, Bryda E, Bunton-Stasyshyn R, Chin HJ, Crispo M, Delerue F, Dobbie M, Franklin CL, Fuchtbauer EM, Gao X, Golzio C, Haffner R, Hérault Y, Hrabe de Angelis M, Lloyd KCK, Magnuson TR, Montoliu L, Murray SA, Nam KH, Nutter LMJ, Pailhoux E, Pardo Manuel de Villena F, Peterson K, Reinholdt L, Sedlacek R, Seong JK, Shiroishi T, Smith C, Takeo T, Tinsley L, Vilotte JL, Warming S, Wells S, Whitelaw CB, Yoshiki A, ,,,,,,,,,Pavlovic G

Nat Commun. 2024 07 2;15(1):5574

Protein arginine methyltransferase 2 controls inflammatory signaling in acute myeloid leukemia.

Sauter C, Morin T, Guidez F, Simonet J, Fournier C, Row C, Masnikov D, Pernon B, Largeot A, Aznague A, Hérault Y, Sauvageau G, Maynadié M, Callanan M, Bastie JN, Aucagne R, Delva L

Commun Biol. 2024 06 20;7(1):753

Co-expression of prepulse inhibition and Schizophrenia genes in the mouse and human brain.

Garrett L, Trümbach D, Lee D, Mandillo S, Samaco R, Flenniken AM, Stewart M, ,White JK, McKerlie C, Nutter LMJ, Vukobradovic I, Veeraragavan S, Yuva L, Heaney JD, Dickinson ME, Meziane H, Hérault Y, Wells S, Lloyd KCK, Bower L, Lanoue L, Clary D, Zimprich A, Gailus-Durner V, Fuchs H, Brown SDM, Chesler EJ, Wurst W, Hrabě de Angelis M, Hölter SM

Neurosci Appl. 2024 06 7;3:104075

Distinct origin and region-dependent contribution of stromal fibroblasts to fibrosis following traumatic injury in mice.

Holl D, Hau WF, Julien A, Banitalebi S, Kalkitsas J, Savant S, Llorens-Bobadilla E, Herault Y, Pavlovic G, Amiry-Moghaddam M, Dias DO, Göritz C

Nat Neurosci. 2024 06 7;:

Shaping down syndrome brain cognitive and molecular changes due to aging using adult animals from the Ts66Yah murine model.

Lanzillotta C, Baniowska MR, Prestia F, Sette C, Nalesso V, Perluigi M, Barone E, Duchon A, Tramutola A, Herault Y, Di Domenico F

Neurobiol Dis. 2024 05 3;:106523

The COL6A5-p.Glu2272* mutation induces chronic itch in mice.

Rasheed AAB, Birling MC, Lauria G, Gaveriaux-Ruff C, Herault Y

Mamm Genome. 2024 03 25;:

Increased dosage of DYRK1A leads to congenital heart defects in a mouse model of Down syndrome.

Lana-Elola E, Aoidi R, Llorian M, Gibbins D, Buechsenschuetz C, Bussi C, Flynn H, Gilmore T, Watson-Scales S, Haugsten Hansen M, Hayward D, Song OR, Brault V, Herault Y, Deau E, Meijer L, Snijders AP, Gutierrez MG, Fisher EMC, Tybulewicz VLJ

Sci Transl Med. 2024 01 24;16(731):eadd6883

The Rogdi knockout mouse is a model for Kohlschütter-Tönz syndrome.

Jimenez-Armijo A, Morkmued S, Ahumada JT, Kharouf N, de Feraudy Y, Gogl G, Riet F, Niederreither K, Laporte J, Birling MC, Selloum M, Herault Y, Hernandez M, Bloch-Zupan A

Sci Rep. 2024 01 3;14(1):445

How much do we know about the function of mammalian genes?

Teboul L, Hérault Y, Wells S, Pavlovic G

BMC Biol. 2023 12 29;21(1):301

Day-to-day spontaneous social behaviours is quantitatively and qualitatively affected in a 16p11.2 deletion mouse model.

Rusu A, Chevalier C, de Chaumont F, Nalesso V, Brault V, Hérault Y, Ey E

Front Behav Neurosci. 2023 12 19;17:1294558

Stefin B Inhibits NLRP3 Inflammasome Activation via AMPK/mTOR Signalling.

Trstenjak-Prebanda M, Biasizzo M, Dolinar K, Pirkmajer S, Turk B, Brault V, Herault Y, Kopitar-Jerala N

Cells. 2023 11 29;12(23):

Dissecting the autism-associated 16p11.2 locus identifies multiple drivers in neuroanatomical phenotypes and unveils a male-specific role for the major vault protein.

Kretz PF, Wagner C, Mikhaleva A, Montillot C, Hugel S, Morella I, Kannan M, Fischer MC, Milhau M, Yalcin I, Brambilla R, Selloum M, Herault Y, Reymond A, Collins SC, Yalcin B

Genome Biol. 2023 11 15;24(1):261

Changes in social behavior with MAPK2 and KCTD13/CUL3 pathways alterations in two new outbred rat models for the 16p11.2 syndromes with autism spectrum disorders.

Martin Lorenzo S, Muniz Moreno MDM, Atas H, Pellen M, Nalesso V, Raffelsberger W, Prevost G, Lindner L, Birling MC, Menoret S, Tesson L, Negroni L, Concordet JP, Anegon I, Herault Y

Front Neurosci. 2023 07 3;17:1148683

Development of HPV16 mouse and dog models for more accurate prediction of human vaccine efficacy.

Totain E, Lindner L, Martin N, Misseri Y, Iché A, Birling MC, Sorg T, Herault Y, Bousquet-Melou A, Bouillé P, Duthoit C, Pavlovic G, Boullier S

Lab Anim Res. 2023 06 12;39(1):14

Comprehensive ECG reference intervals in C57BL/6N substrains provide a generalizable guide for cardiac electrophysiology studies in mice.

Oestereicher MA, Wotton JM, Ayabe S, Bou About G, Cheng TK, Choi JH, Clary D, Dew EM, Elfertak L, Guimond A, Haseli Mashhadi H, Heaney JD, Kelsey L, Keskivali-Bond P, Lopez Gomez F, Marschall S, McFarland M, Meziane H, Munoz Fuentes V, Nam KH, Nichtová Z, Pimm D, Bower L, Prochazka J, Rozman J, Santos L, Stewart M, Tanaka N, Ward CS, Willett AME, Wilson R, Braun RE, Dickinson ME, Flenniken AM, Herault Y, Lloyd KCK, Mallon AM, McKerlie C, Murray SA, Nutter LMJ, Sedlacek R, Seong JK, Sorg T, Tamura M, Wells S, Schneltzer E, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, White JK, Spielmann N

Mamm Genome. 2023 06 9;:

The Impact of Mmu17 Non-Hsa21 Orthologous Genes in the Ts65Dn Mouse Model of Down Syndrome: The Gold Standard Refuted.

Guedj F, Kane E, Bishop LA, Pennings JLA, Herault Y, Bianchi DW

Biol Psychiatry. 2023 03 14;:

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.

Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y, ,Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A

BMC Biol. 2023 02 3;21(1):22

Increased On-Target Rate and Risk of Concatemerization after CRISPR-Enhanced Targeting in ES Cells.

Erbs V, Lorentz R, Eisenman B, Schaeffer L, Luppi L, Lindner L, Hérault Y, Pavlovic G, Wattenhofer-Donzé M, Birling MC

Genes (Basel). 2023 02 3;14(2):

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

Muñiz Moreno MDM, Gavériaux-Ruff C, Herault Y

BMC Bioinformatics. 2023 01 26;24(1):28

Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion.

Yang Y, Booker SA, Clegg JM, Quintana-Urzainqui I, Sumera A, Kozic Z, Dando O, Martin Lorenzo S, Herault Y, Kind PC, Price DJ, Pratt T

BMC Neurosci. 2023 01 19;24(1):5

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

Teletin M, Mark M, Wendling O, Vernet N, Féret B, Klopfenstein M, Herault Y, Ghyselinck NB

Biomedicines. 2023 01 12;11(1):

CRISMERE Chromosome Engineering in Mouse and Rat.

Schaeffer L, Lindner L, Pavlovic G, Hérault Y, Birling MC

Methods Mol Biol. 2023 ;2631:277-297

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

Meziane H, Birling MC, Wendling O, Leblanc S, Dubos A, Selloum M, Pavlovic G, Sorg T, Kalscheuer VM, Billuart P, Laumonnier F, Chelly J, van Bokhoven H, Herault Y

Biomedicines. 2022 12 6;10(12):

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

Higgins K, Moore BA, Berberovic Z, Adissu HA, Eskandarian M, Flenniken AM, Shao A, Imai DM, Clary D, Lanoue L, Newbigging S, Nutter LMJ, Adams DJ, Bosch F, Braun RE, Brown SDM, Dickinson ME, Dobbie M, Flicek P, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Chin HG, Mammano F, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y, ,Lloyd KCK, McKerlie C, Moshiri A

Sci Rep. 2022 12 1;12(1):20791

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

Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Bléhaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M, Lepagnol-Bestel AM

Life Sci Alliance. 2022 12;5(12):

Ts66Yah, an upgraded Ts65Dn mouse model for down syndrome, for only the region homologous to human chromosome 21.

Duchon A, Muñiz Moreno MDM, Chevalier C, Nalesso V, Andre P, Fructuoso-Castellar M, Mondino M, Po C, Noblet V, Birling MC, Potier MC, Herault Y

Dis Model Mech. 2022 11 14;:

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

Giannuzzi G, Chatron N, Mannik K, Auwerx C, Pradervand S, Willemin G, Hoekzema K, Nuttle X, Chrast J, Sadler MC, Porcu E, ,Herault Y, Isidor B, Gilbert-Dussardier B, Eichler EE, Kutalik Z, Reymond A

NPJ Genom Med. 2022 06 17;7(1):38

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

Xue Y, Kremer M, Muniz Moreno MDM, Chidiac C, Lorentz R, Birling MC, Barrot M, Herault Y, Gaveriaux-Ruff C

Front Mol Neurosci. 2022 06 13;15:913990

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.

Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Duperat V, Claverol S, Bonneu M, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Levy N, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R

J Clin Invest. 2022 Mar 1;:

Behavioral Testing Design for Evaluation of Cognitive Disabilities.

Riet F, Mittelhaeuser C, Lux A, Bour R, Selloum M, Sorg T, Herault Y, Meziane H

Curr Protoc. 2022 Feb;2(2):e382

Extensive identification of genes involved in congenital and structural heart disorders and cardiomyopathy.

Spielmann N, Miller G, Oprea TI, Hsu CW, Fobo G, Frishman G, Montrone C, Haseli Mashhadi H, Mason J, Munoz Fuentes V, Leuchtenberger S, Ruepp A, Wagner M, Westphal DS, Wolf C, Görlach A, Sanz-Moreno A, Cho YL, Teperino R, Brandmaier S, Sharma S, Galter IR, Östereicher MA, Zapf L, Mayer-Kuckuk P, Rozman J, Teboul L, Bunton-Stasyshyn RKA, Cater H, Stewart M, Christou S, Westerberg H, Willett AM, Wotton JM, Roper WB, Christiansen AE, Ward CS, Heaney JD, Reynolds CL, Prochazka J, Bower L, Clary D, Selloum M, Bou About G, Wendling O, Jacobs H, Leblanc S, Meziane H, Sorg T, Audain E, Gilly A, Rayner NW, ,,Hitz MP, Zeggini E, Wolf E, Sedlacek R, Murray SA, Svenson KL, Braun RE, White JK, Kelsey L, Gao X, Shiroishi T, Xu Y, Seong JK, Mammano F, Tocchini-Valentini GP, Beaudet AL, Meehan TF, Parkinson H, Smedley D, Mallon AM, Wells SE, Grallert H, Wurst W, Marschall S, Fuchs H, Brown SDM, Flenniken AM, Nutter LMJ, McKerlie C, Herault Y, Lloyd KCK, Dickinson ME, Gailus-Durner V, Hrabe de Angelis M

Nat Cardiovasc Res. 2022 02;1(2):157-173

Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome.

Panagaki T, Lozano-Montes L, Janickova L, Zuhra K, Szabo MP, Majtan T, Rainer G, Maréchal D, Herault Y, Szabo C

Redox Biol. 2022 Jan 13;:102233

Structure-Activity Relationship in the Leucettine Family of Kinase Inhibitors.

Tahtouh T, Durieu E, Villiers B, Bruyère C, Nguyen TL, Fant X, Ahn KH, Khurana L, Deau E, Lindberg MF, Sévère E, Miege F, Roche D, Limanton E, L'Helgoual'ch JM, Burgy G, Guiheneuf S, Herault Y, Kendall DA, Carreaux F, Bazureau JP, Meijer L

J Med Chem. 2021 Dec 20;:

ProMetIS, deep phenotyping of mouse models by combined proteomics and metabolomics analysis.

Imbert A, Rompais M, Selloum M, Castelli F, Mouton-Barbosa E, Brandolini-Bunlon M, Chu-Van E, Joly C, Hirschler A, Roger P, Burger T, Leblanc S, Sorg T, Ouzia S, Vandenbrouck Y, Médigue C, Junot C, Ferro M, Pujos-Guillot E, de Peredo AG, Fenaille F, Carapito C, Herault Y, Thévenot EA

Sci Data. 2021 Dec 3;8(1):311

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

Atas-Ozcan H, Brault V, Duchon A, Herault Y

Genes (Basel). 2021 Nov 20;12(11):

HDAC inhibitor ameliorates behavioral deficits in Mecp2 mouse model of Rett syndrome.

Lebrun N, Delépine C, Selloum M, Meziane H, Nectoux J, Herault Y, Bienvenu T

Brain Res. 2021 Sep 25;:147670

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

Brault V, Nguyen TL, Flores-Gutiérrez J, Iacono G, Birling MC, Lalanne V, Meziane H, Manousopoulou A, Pavlovic G, Lindner L, Selloum M, Sorg T, Yu E, Garbis SD, Hérault Y

PLoS Genet. 2021 Sep;17(9):e1009777

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

Courraud J, Chater-Diehl E, Durand B, Vincent M, Del Mar Muniz Moreno M, Boujelbene I, Drouot N, Genschik L, Schaefer E, Nizon M, Gerard B, Abramowicz M, Cogné B, Bronicki L, Burglen L, Barth M, Charles P, Colin E, Coubes C, David A, Delobel B, Demurger F, Passemard S, Denommé AS, Faivre L, Feger C, Fradin M, Francannet C, Genevieve D, Goldenberg A, Guerrot AM, Isidor B, Johannesen KM, Keren B, Kibæk M, Kuentz P, Mathieu-Dramard M, Demeer B, Metreau J, Steensbjerre Møller R, Moutton S, Pasquier L, Pilekær Sørensen K, Perrin L, Renaud M, Saugier P, Rio M, Svane J, Thevenon J, Tran Mau Them F, Tronhjem CE, Vitobello A, Layet V, Auvin S, Khachnaoui K, Birling MC, Drunat S, Bayat A, Dubourg C, El Chehadeh S, Fagerberg C, Mignot C, Guipponi M, Bienvenu T, Herault Y, Thompson J, Willems M, Mandel JL, Weksberg R, Piton A

Genet Med. 2021 Aug 3;:

INFRAFRONTIER quality principles in systemic phenotyping.

Ehlich H, Cater HL, Flenniken AM, Goncalves Da Cruz I, Mura AM, Ntafis V, Raess M, Selloum M, Stoeger C, Suchanova S, Vuolteenaho R, Brown SDM, Hérault Y, Hinttala R, Hrabě de Angelis M, Kollias G, Kontoyiannis DL, Malissen B, McKerlie C, Sedláček R, Wells SE, Zarubica A, Rozman J, Sorg T

Mamm Genome. 2021 Jul 30;:

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

Dierssen M, Herault Y, Helguera P, Martínez de Lagran M, Vazquez A, Christian B, Carmona-Iragui M, Wiseman F, Mobley W, Fisher EMC, Brault V, Esbensen A, Jacola LM, Potier MC, Hamlett ED, Abbeduto L, Del Hoyo Soriano L, Busciglio J, Iulita MF, Crispino J, Malinge S, Barone E, Perluigi M, Costanzo F, Delabar JM, Bartesaghi R, Dekker AD, De Deyn P, Fortea Ormaechea J, Shaw PA, Haydar TF, Sherman SL, Strydom A, Bhattacharyya A

Mol Syndromol. 2021 Jul;12(4):202-218

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

Wendling O, Hentsch D, Jacobs H, Lemercier N, Taubert S, Pertuy F, Vonesch JL, Sorg T, Di Michele M, Le Cam L, Rosahl T, Carballo-Jane E, Liu M, Mu J, Mark M, Herault Y

Biomedicines. 2021 Jul 1;9(7):

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

Mark M, Teletin M, Wendling O, Vonesch JL, Féret B, Hérault Y, Ghyselinck NB

Biomedicines. 2021 Jun 28;9(7):

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

Lindner L, Cayrou P, Rosahl TW, Heather Zhou E, Birling MC, Herault Y, Pavlovic G

Methods. 2021 Apr 7;:

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

Birling MC, Yoshiki A, Adams DJ, Ayabe S, Beaudet AL, Bottomley J, Bradley A, Brown SDM, Bürger A, Bushell W, Chiani F, Chin HG, Christou S, Codner GF, DeMayo FJ, Dickinson ME, Doe B, Donahue LR, Fray MD, Gambadoro A, Gao X, Gertsenstein M, Gomez-Segura A, Goodwin LO, Heaney JD, Hérault Y, de Angelis MH, Jiang ST, Justice MJ, Kasparek P, King RE, Kühn R, Lee H, Lee YJ, Liu Z, Lloyd KCK, Lorenzo I, Mallon AM, McKerlie C, Meehan TF, Fuentes VM, Newman S, Nutter LMJ, Oh GT, Pavlovic G, Ramirez-Solis R, Rosen B, Ryder EJ, Santos LA, Schick J, Seavitt JR, Sedlacek R, Seisenberger C, Seong JK, Skarnes WC, Sorg T, Steel KP, Tamura M, Tocchini-Valentini GP, Wang CL, Wardle-Jones H, Wattenhofer-Donzé M, Wells S, Wiles MV, Willis BJ, Wood JA, Wurst W, Xu Y, ,Teboul L, Murray SA

Nat Genet. 2021 Apr;53(4):416-419

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

Xue Y, Chidiac C, Herault Y, Gaveriaux-Ruff C

Neurosci Lett. 2021 Mar 25;:135844

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

Duchon A, Del Mar Muñiz Moreno M, Lorenzo SM, de Souza MPS, Chevalier C, Nalesso V, Meziane H, de Sousa PL, Noblet V, Armspach JP, Brault V, Herault Y

Hum Mol Genet. 2021 Mar 9;:

Specific Susceptibility to COVID-19 in Adults with Down Syndrome.

Illouz T, Biragyn A, Frenkel-Morgenstern M, Weissberg O, Gorohovski A, Merzon E, Green I, Iulita F, Flores-Aguilar L, Del Mar Dierssen Sotos M, De Toma I, Lifshitz H, Antonarakis SE, Yu E, Herault Y, Potier MC, Botté A, Roper R, Sredni B, Sarid R, London J, Mobley W, Strydom A, Okun E

Neuromolecular Med. 2021 Mar 4;:

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

Martin Lorenzo S, Nalesso V, Chevalier C, Birling MC, Herault Y

Mol Autism. 2021 Jan 13;12(1):1

Identifying causative mechanisms linking early-life stress to psycho-cardio-metabolic multi-morbidity: The EarlyCause project.

Mariani N, Borsini A, Cecil CAM, Felix JF, Sebert S, Cattaneo A, Walton E, Milaneschi Y, Cochrane G, Amid C, Rajan J, Giacobbe J, Sanz Y, Agustí A, Sorg T, Herault Y, Miettunen J, Parmar P, Cattane N, Jaddoe V, Lötjönen J, Buisan C, González Ballester MA, Piella G, Gelpi JL, Lamers F, Penninx BWJH, Tiemeier H, von Tottleben M, Thiel R, Heil KF, Järvelin MR, Pariante C, Mansuy IM, Lekadir K

PLoS One. 2021 ;16(1):e0245475

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

Wu Y, Whittaker HT, Noy S, Cleverley K, Brault V, Herault Y, Fisher EMC, Wiseman FK

PLoS One. 2021 ;16(7):e0242236

The Human SCN10A Point Mutation Established in Mice Impacts on Mechanical, Heat, and Cool Sensitivity.

Chidiac C, Xue Y, Muniz Moreno MDM, Bakr Rasheed AA, Lorentz R, Birling MC, Gaveriaux-Ruff C, Herault Y

Front Pharmacol. 2021 ;12:780132

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

Swan AL, Schütt C, Rozman J, Del Mar Muñiz Moreno M, Brandmaier S, Simon M, Leuchtenberger S, Griffiths M, Brommage R, Keskivali-Bond P, Grallert H, Werner T, Teperino R, Becker L, Miller G, Moshiri A, Seavitt JR, Cissell DD, Meehan TF, Acar EF, Lelliott CJ, Flenniken AM, Champy MF, Sorg T, Ayadi A, Braun RE, Cater H, Dickinson ME, Flicek P, Gallegos J, Ghirardello EJ, Heaney JD, Jacquot S, Lally C, Logan JG, Teboul L, Mason J, Spielmann N, McKerlie C, Murray SA, Nutter LMJ, Odfalk KF, Parkinson H, Prochazka J, Reynolds CL, Selloum M, Spoutil F, Svenson KL, Vales TS, Wells SE, White JK, Sedlacek R, Wurst W, Lloyd KKC, Croucher PI, Fuchs H, Williams GR, Bassett D, Gailus-Durner V, Herault Y, Mallon AM, Brown SDM, Mayer-Kuckuk P, Hrabe de Angelis M,

PLoS Genet. 2020 Dec 28;16(12):e1009190

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

Zuhra K, Panagaki T, Randi EB, Augsburger F, Blondel M, Friocourt G, Herault Y, Szabo C

Biochem Pharmacol. 2020 Oct 6;:114267

Reliable and robust droplet digital PCR (ddPCR) and RT-ddPCR protocols for mouse studies.

Lindner L, Cayrou P, Jacquot S, Birling MC, Herault Y, Pavlovic G

Methods. 2020 Jul 25;:

Introduction to Mammalian Genome Special Issue: Epigenetics.

Beckers J, Teperino R, Hérault Y, Hrabé de Angelis M

Mamm. Genome. 2020 Jul 8;:

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

Teboul L, Herault Y, Wells S, Qasim W, Pavlovic G

Mol. Ther.. 2020 Mar 20;:

PATHBIO: an international training program for precision mouse phenotyping.

Ruberte J, Schofield PN, Brakebusch C, Vogel P, Herault Y, Gracia G, McKerlie C, Hrabĕ de Angelis M, Hagn M, Sundberg JP

Mamm. Genome. 2020 Feb 22;:

The Deep Genome Project.

Lloyd KCK, Adams DJ, Baynam G, Beaudet AL, Bosch F, Boycott KM, Braun RE, Caulfield M, Cohn R, Dickinson ME, Dobbie MS, Flenniken AM, Flicek P, Galande S, Gao X, Grobler A, Heaney JD, Herault Y, de Angelis MH, Lupski JR, Lyonnet S, Mallon AM, Mammano F, MacRae CA, McInnes R, McKerlie C, Meehan TF, Murray SA, Nutter LMJ, Obata Y, Parkinson H, Pepper MS, Sedlacek R, Seong JK, Shiroishi T, Smedley D, Tocchini-Valentini G, Valle D, Wang CL, Wells S, White J, Wurst W, Xu Y, Brown SDM

Genome Biol.. 2020 02 3;21(1):18

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

Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H, Flenniken AM, Morgan H, Westerberg H, Konopka T, Hsu CW, Christiansen A, Lanza DG, Beaudet AL, Heaney JD, Fuchs H, Gailus-Durner V, Sorg T, Prochazka J, Novosadova V, Lelliott CJ, Wardle-Jones H, Wells S, Teboul L, Cater H, Stewart M, Hough T, Wurst W, Sedlacek R, Adams DJ, Seavitt JR, Tocchini-Valentini G, Mammano F, Braun RE, McKerlie C, Herault Y, de Angelis MH, Mallon AM, Lloyd KCK, Brown SDM, Parkinson H, Meehan TF, Smedley D, ,

Nat Commun. 2020 Jan 31;11(1):655

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

Guyot AC, Leuxe C, Disdier C, Oumata N, Costa N, Roux GL, Fernandez-Varela P, Duchon A, Charbonnier JB, Herault Y, Pavoni S, Galons H, Andriambeloson E, Wagner S, Meijer L, Lund AK, Mabondzo A

Sci Rep. 2020 Jan 24;10(1):1143

High-throughput discovery of genetic determinants of circadian misalignment.

Zhang T, Xie P, Dong Y, Liu Z, Zhou F, Pan D, Huang Z, Zhai Q, Gu Y, Wu Q, Tanaka N, Obata Y, Bradley A, Lelliott CJ, ,Nutter LMJ, McKerlie C, Flenniken AM, Champy MF, Sorg T, Herault Y, Angelis MH, Durner VG, Mallon AM, Brown SDM, Meehan T, Parkinson HE, Smedley D, Lloyd KCK, Yan J, Gao X, Seong JK, Wang CL, Sedlacek R, Liu Y, Rozman J, Yang L, Xu Y

PLoS Genet.. 2020 Jan 13;16(1):e1008577

BAHD1 haploinsufficiency results in anxiety-like phenotypes in male mice.

Pourpre R, Naudon L, Meziane H, Lakisic G, Jouneau L, Varet H, Legendre R, Wendling O, Selloum M, Proux C, Coppée JY, Herault Y, Bierne H

PLoS ONE. 2020 ;15(5):e0232789

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

Muñiz Moreno MDM, Brault V, Birling MC, Pavlovic G, Herault Y

Prog. Brain Res.. 2020 ;251:91-143

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

Jacquot S, Chartoire N, Piguet F, Hérault Y, Pavlovic G

Curr Protoc Mouse Biol. 2019 Dec;9(4):e65

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

Duchon A, Gruart A, Albac C, Delatour B, Zorrilla de San Martin J, Delgado-García JM, Hérault Y, Potier MC

Br. J. Pharmacol.. 2019 Oct 25;:

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

Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED, ,Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A

Am. J. Hum. Genet.. 2019 Oct 21;:

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

Qiu Y, Arbogast T, Lorenzo SM, Li H, Tang SC, Richardson E, Hong O, Cho S, Shanta O, Pang T, Corsello C, Deutsch CK, Chevalier C, Davis EE, Iakoucheva LM, Herault Y, Katsanis N, Messer K, Sebat J

Cell Rep. 2019 Sep 24;28(13):3320-3328.e4

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

Benavides F, Rülicke T, Prins JB, Bussell J, Scavizzi F, Cinelli P, Herault Y, Wedekind D

Lab. Anim.. 2019 Aug 20;:23677219867719

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

Sügis E, Dauvillier J, Leontjeva A, Adler P, Hindie V, Moncion T, Collura V, Daudin R, Loe-Mie Y, Herault Y, Lambert JC, Hermjakob H, Pupko T, Rain JC, Xenarios I, Vilo J, Simonneau M, Peterson H

Sci Data. 2019 Aug 14;6(1):151

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

Bou About G, Thiebault E, Wattenhofer-Donzé M, Jacobs H, Guimond A, Sorg T, Robinet E, Baumert TF, Monassier L, Herault Y

Curr Protoc Mouse Biol. 2019 May 30;:e62

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

Ivanova EL, Gilet JG, Sulimenko V, Duchon A, Rudolf G, Runge K, Collins SC, Asselin L, Broix L, Drouot N, Tilly P, Nusbaum P, Vincent A, Magnant W, Skory V, Birling MC, Pavlovic G, Godin JD, Yalcin B, Hérault Y, Dráber P, Chelly J, Hinckelmann MV

Nat Commun. 2019 05 13;10(1):2129

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

Sartori M, Mendes T, Desai S, Lasorsa A, Herledan A, Malmanche N, Mäkinen P, Marttinen M, Malki I, Chapuis J, Flaig A, Vreulx AC, Ciancia M, Amouyel P, Leroux F, Déprez B, Cantrelle FX, Maréchal D, Pradier L, Hiltunen M, Landrieu I, Kilinc D, Herault Y, Laporte J, Lambert JC

Acta Neuropathol.. 2019 May 7;:

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

Lionello VM, Nicot AS, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS

Sci Transl Med. 2019 Mar 20;11(484):

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

Souchet B, Duchon A, Gu Y, Dairou J, Chevalier C, Daubigney F, Nalesso V, Créau N, Yu Y, Janel N, Herault Y, Delabar JM

Sci Rep. 2019 Mar 8;9(1):3914

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

Marechal D, Brault V, Leon A, Martin D, Pereira PL, Loaëc N, Birling MC, Friocourt G, Blondel M, Herault Y

Hum. Mol. Genet.. 2019 Jan 10;:

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

Nguyen TL, Duchon A, Manousopoulou A, Loaëc N, Villiers B, Pani G, Karatas M, Mechling AE, Harsan LA, Limanton E, Bazureau JP, Carreaux F, Garbis SD, Meijer L, Herault Y

Dis Model Mech. 2018 Aug 16;:

Hepatocyte SHP deficiency protects mice from acetaminophen-evoked liver injury in a JNK-signaling regulation and GADD45β-dependent manner.

Kim YH, Noh JR, Hwang JH, Kim KS, Choi DH, Kim JH, Moon SJ, Choi JH, Hérault Y, Lee TG, Choi HS, Lee CH

Arch. Toxicol.. 2018 Jun 25;:

Translating molecular advances in Down syndrome and Fragile X syndrome into therapies.

Faundez V, De Toma I, Bardoni B, Bartesaghi R, Nizetic D, de la Torre R, Cohen Kadosh R, Herault Y, Dierssen M, Potier MC,

Eur Neuropsychopharmacol. 2018 Jun 7;:

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

Moore BA, Roux MJ, Sebbag L, Cooper A, Edwards SG, Leonard BC, Imai DM, Griffey S, Bower L, Clary D, Lloyd KCK, Hérault Y, Thomasy SM, Murphy CJ, Moshiri A

Invest. Ophthalmol. Vis. Sci.. 2018 May 1;59(6):2252-2261

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

Dubos A, Meziane H, Iacono G, Curie A, Riet F, Martin C, Loaëc N, Birling MC, Selloum M, Normand E, Pavlovic G, Sorg T, Stunnenberg HG, Chelly J, Humeau Y, Friocourt G, Hérault Y

Hum. Mol. Genet.. 2018 Apr 5;:

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

Iacono G, Dubos A, Méziane H, Benevento M, Habibi E, Mandoli A, Riet F, Selloum M, Feil R, Zhou H, Kleefstra T, Kasri NN, van Bokhoven H, Herault Y, Stunnenberg HG

Nucleic Acids Res.. 2018 Mar 15;:

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

Rozman J, Rathkolb B, Oestereicher MA, Schütt C, Ravindranath AC, Leuchtenberger S, Sharma S, Kistler M, Willershäuser M, Brommage R, Meehan TF, Mason J, Haselimashhadi H, ,Hough T, Mallon AM, Wells S, Santos L, Lelliott CJ, White JK, Sorg T, Champy MF, Bower LR, Reynolds CL, Flenniken AM, Murray SA, Nutter LMJ, Svenson KL, West D, Tocchini-Valentini GP, Beaudet AL, Bosch F, Braun RB, Dobbie MS, Gao X, Herault Y, Moshiri A, Moore BA, Kent Lloyd KC, McKerlie C, Masuya H, Tanaka N, Flicek P, Parkinson HE, Sedlacek R, Seong JK, Wang CL, Moore M, Brown SD, Tschöp MH, Wurst W, Klingenspor M, Wolf E, Beckers J, Machicao F, Peter A, Staiger H, Häring HU, Grallert H, Campillos M, Maier H, Fuchs H, Gailus-Durner V, Werner T, Hrabe de Angelis M

Nat Commun. 2018 Jan 18;9(1):288

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

Moore BA, Leonard BC, Sebbag L, Edwards SG, Cooper A, Imai DM, Straiton E, Santos L, Reilly C, Griffey SM, Bower L, Clary D, Mason J, Roux MJ, Meziane H, Herault Y, ,McKerlie C, Flenniken AM, Nutter LMJ, Berberovic Z, Owen C, Newbigging S, Adissu H, Eskandarian M, Hsu CW, Kalaga S, Udensi U, Asomugha C, Bohat R, Gallegos JJ, Seavitt JR, Heaney JD, Beaudet AL, Dickinson ME, Justice MJ, Philip V, Kumar V, Svenson KL, Braun RE, Wells S, Cater H, Stewart M, Clementson-Mobbs S, Joynson R, Gao X, Suzuki T, Wakana S, Smedley D, Seong JK, Tocchini-Valentini G, Moore M, Fletcher C, Karp N, Ramirez-Solis R, White JK, de Angelis MH, Wurst W, Thomasy SM, Flicek P, Parkinson H, Brown SDM, Meehan TF, Nishina PM, Murray SA, Krebs MP, Mallon AM, Lloyd KCK, Murphy CJ, Moshiri A

Commun Biol. 2018 ;1:236

Nox4 genetic inhibition in experimental hypertension and metabolic syndrome.

Bouabout G, Ayme-Dietrich E, Jacob H, Champy MF, Birling MC, Pavlovic G, Madeira L, Fertak LE, Petit-Demoulière B, Sorg T, Herault Y, Mudgett J, Monassier L

Arch Cardiovasc Dis. 2018 Jan;111(1):41-52

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

Iacono G, Benevento M, Dubos A, Herault Y, van Bokhoven H, Nadif Kasri N, Stunnenberg HG

Sci Rep. 2017 Dec 22;7(1):18073

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

Kannan M, Bayam E, Wagner C, Rinaldi B, Kretz PF, Tilly P, Roos M, McGillewie L, Bär S, Minocha S, Chevalier C, Po C, ,Chelly J, Mandel JL, Borgatti R, Piton A, Kinnear C, Loos B, Adams DJ, Hérault Y, Collins SC, Friant S, Godin JD, Yalcin B

Proc. Natl. Acad. Sci. U.S.A.. 2017 Oct 31;114(44):E9308-E9317

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

Bowl MR, Simon MM, Ingham NJ, Greenaway S, Santos L, Cater H, Taylor S, Mason J, Kurbatova N, Pearson S, Bower LR, Clary DA, Meziane H, Reilly P, Minowa O, Kelsey L, ,Tocchini-Valentini GP, Gao X, Bradley A, Skarnes WC, Moore M, Beaudet AL, Justice MJ, Seavitt J, Dickinson ME, Wurst W, de Angelis MH, Herault Y, Wakana S, Nutter LMJ, Flenniken AM, McKerlie C, Murray SA, Svenson KL, Braun RE, West DB, Lloyd KCK, Adams DJ, White J, Karp N, Flicek P, Smedley D, Meehan TF, Parkinson HE, Teboul LM, Wells S, Steel KP, Mallon AM, Brown SDM

Nat Commun. 2017 10 12;8(1):886

Rodent models in Down syndrome research: impact and future opportunities.

Herault Y, Delabar JM, Fisher EMC, Tybulewicz VLJ, Yu E, Brault V

Dis Model Mech. 2017 Oct;10(10):1165-1186

Genome Wide Conditional Mouse Knockout Resources.

Kaloff C, Anastassiadis K, Ayadi A, Baldock R, Beig J, Birling MC, Bradley A, Brown S, Bürger A, Bushell W, Chiani F, Collins FS, Doe B, Eppig JT, Finnel RH, Fletcher C, Flicek P, Fray M, Friedel RH, Gambadoro A, Gates H, Hansen J, Herault Y, Hicks GG, Hörlein A, Hrabé de Angelis M, Iyer V, de Jong PJ, Koscielny G, Kühn R, Liu P, Lloyd KC, Lopez RG, Marschall S, Martínez S, McKerlie C, Meehan T, von Melchner H, Moore M, Murray SA, Nagy A, Nutter L, Pavlovic G, Pombero A, Prosser H, Ramirez-Solis R, Ringwald M, Rosen B, Rosenthal N, Rossant J, Ruiz Noppinger P, Ryder E, Skarnes WC, Schick J, Schnütgen F, Schofield P, Seisenberger C, Selloum M, Smedley D, Simpson EM, Stewart AF, Teboul L, Tocchini Valentini GP, Valenzuela D, West A, Wurst W

Drug Discov Today Dis Models. 2017 09 12;20:3-12

Atp6ap2 ablation in adult mice impairs viability through multiple organ deficiencies.

Wendling O, Champy MF, Jaubert S, Pavlovic G, Dubos A, Lindner L, Jacobs H, Mark M, Combe R, Da Cruz IG, Luche H, Mudgett JS, Rosahl T, Sorg T, Malissen M, Reilly PT, Hérault Y

Sci Rep. 2017 Aug;7(1):9618

Dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A) inhibitors: a survey of recent patent literature.

Nguyen TL, Fruit C, Hérault Y, Meijer L, Besson T

Expert Opin Ther Pat. 2017 Aug;:1-17

Introduction to Mammalian Genome Special Issue: Genome Editing.

Teboul L, Hérault Y, Smith C, Whitelaw B

Mamm. Genome. 2017 Jul;:

Modeling human disease in rodents by CRISPR/Cas9 genome editing.

Birling MC, Herault Y, Pavlovic G

Mamm. Genome. 2017 Jul;:

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

Arbogast T, Iacono G, Chevalier C, Afinowi NO, Houbaert X, van Eede MC, Laliberte C, Birling MC, Linda K, Meziane H, Selloum M, Sorg T, Nadif Kasri N, Koolen DA, Stunnenberg HG, Henkelman RM, Kopanitsa M, Humeau Y, De Vries BBA, Herault Y

PLoS Genet.. 2017 Jul;13(7):e1006886

Synaptic dysfunction in amygdala in intellectual disorder models.

Aincy M, Meziane H, Herault Y, Humeau Y

Prog. Neuropsychopharmacol. Biol. Psychiatry. 2017 Jul;:

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

Daubeuf F, Becker J, Aguilar-Pimentel JA, Ebel C, Hrabě de Angelis M, Hérault Y, Frossard N

Curr Protoc Mouse Biol. 2017 Jun 19;7(2):88-99

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

Meehan TF, Conte N, West DB, Jacobsen JO, Mason J, Warren J, Chen CK, Tudose I, Relac M, Matthews P, Karp N, Santos L, Fiegel T, Ring N, Westerberg H, Greenaway S, Sneddon D, Morgan H, Codner GF, Stewart ME, Brown J, Horner N, ,Haendel M, Washington N, Mungall CJ, Reynolds CL, Gallegos J, Gailus-Durner V, Sorg T, Pavlovic G, Bower LR, Moore M, Morse I, Gao X, Tocchini-Valentini GP, Obata Y, Cho SY, Seong JK, Seavitt J, Beaudet AL, Dickinson ME, Herault Y, Wurst W, de Angelis MH, Lloyd KCK, Flenniken AM, Nutter LMJ, Newbigging S, McKerlie C, Justice MJ, Murray SA, Svenson KL, Braun RE, White JK, Bradley A, Flicek P, Wells S, Skarnes WC, Adams DJ, Parkinson H, Mallon AM, Brown SDM, Smedley D

Nat. Genet.. 2017 Jun;:

Prevalence of sexual dimorphism in mammalian phenotypic traits.

Karp NA, Mason J, Beaudet AL, Benjamini Y, Bower L, Braun RE, Brown SDM, Chesler EJ, Dickinson ME, Flenniken AM, Fuchs H, Angelis MH, Gao X, Guo S, Greenaway S, Heller R, Herault Y, Justice MJ, Kurbatova N, Lelliott CJ, Lloyd KCK, Mallon AM, Mank JE, Masuya H, McKerlie C, Meehan TF, Mott RF, Murray SA, Parkinson H, Ramirez-Solis R, Santos L, Seavitt JR, Smedley D, Sorg T, Speak AO, Steel KP, Svenson KL, ,Wakana S, West D, Wells S, Westerberg H, Yaacoby S, White JK

Nat Commun. 2017 Jun;8:15475

Ptchd1 deficiency induces excitatory synaptic and cognitive dysfunctions in mouse.

Ung DC, Iacono G, Méziane H, Blanchard E, Papon MA, Selten M, van Rhijn JR, Montjean R, Rucci J, Martin S, Fleet A, Birling MC, Marouillat S, Roepman R, Selloum M, Lux A, Thépault RA, Hamel P, Mittal K, Vincent JB, Dorseuil O, Stunnenberg HG, Billuart P, Nadif Kasri N, Hérault Y, Laumonnier F

Mol. Psychiatry. 2017 Apr;:

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

Birling MC, Schaeffer L, André P, Lindner L, Maréchal D, Ayadi A, Sorg T, Pavlovic G, Hérault Y

Sci Rep. 2017 Mar;7:43331

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

Haziza S, Mohan N, Loe-Mie Y, Lepagnol-Bestel AM, Massou S, Adam MP, Le XL, Viard J, Plancon C, Daudin R, Koebel P, Dorard E, Rose C, Hsieh FJ, Wu CC, Potier B, Herault Y, Sala C, Corvin A, Allinquant B, Chang HC, Treussart F, Simonneau M

Nat Nanotechnol. 2016 Nov;:

Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice.

Yang X, Mudgett J, Bou-About G, Champy MF, Jacobs H, Monassier L, Pavlovic G, Sorg T, Herault Y, Petit-Demoulière B, Lu K, Feng W, Wang H, Ma LJ, Askew R, Erion MD, Kelley DE, Myers RW, Li C, Guan HP

J. Biol. Chem.. 2016 Nov;291(45):23428-23439

The DNA methyltransferase DNMT3C protects male germ cells from transposon activity.

Barau J, Teissandier A, Zamudio N, Roy S, Nalesso V, Hérault Y, Guillou F, Bourc'his D

Science. 2016 Nov;354(6314):909-912

A suppressor locus for MODY3-diabetes.

Garcia-Gonzalez MA, Carette C, Bagattin A, Chiral M, Makinistoglu MP, Garbay S, Prévost G, Madaras C, Hérault Y, Leibovici M, Pontoglio M

Sci Rep. 2016 Sep;6:33087

E4F1-mediated control of pyruvate dehydrogenase activity is essential for skin homeostasis.

Goguet-Rubio P, Seyran B, Gayte L, Bernex F, Sutter A, Delpech H, Linares LK, Riscal R, Repond C, Rodier G, Kirsh O, Touhami J, Noel J, Vincent C, Pirot N, Pavlovic G, Herault Y, Sitbon M, Pellerin L, Sardet C, Lacroix M, Le Cam L

Proc. Natl. Acad. Sci. U.S.A.. 2016 Sep;113(39):11004-9

High-throughput discovery of novel developmental phenotypes.

Dickinson ME, Flenniken AM, Ji X, Teboul L, Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H, Adissu H, Baker CN, Bower L, Brown JM, Caddle LB, Chiani F, Clary D, Cleak J, Daly MJ, Denegre JM, Doe B, Dolan ME, Edie SM, Fuchs H, Gailus-Durner V, Galli A, Gambadoro A, Gallegos J, Guo S, Horner NR, Hsu CW, Johnson SJ, Kalaga S, Keith LC, Lanoue L, Lawson TN, Lek M, Mark M, Marschall S, Mason J, McElwee ML, Newbigging S, Nutter LM, Peterson KA, Ramirez-Solis R, Rowland DJ, Ryder E, Samocha KE, Seavitt JR, Selloum M, Szoke-Kovacs Z, Tamura M, Trainor AG, Tudose I, Wakana S, Warren J, Wendling O, West DB, Wong L, Yoshiki A, ,,,,,,,,MacArthur DG, Tocchini-Valentini GP, Gao X, Flicek P, Bradley A, Skarnes WC, Justice MJ, Parkinson HE, Moore M, Wells S, Braun RE, Svenson KL, de Angelis MH, Herault Y, Mohun T, Mallon AM, Henkelman RM, Brown SD, Adams DJ, Lloyd KC, McKerlie C, Beaudet AL, Bućan M, Murray SA

Nature. 2016 09;537(7621):508-514

Aneuploidy screening of embryonic stem cell clones by metaphase karyotyping and droplet digital polymerase chain reaction.

Codner GF, Lindner L, Caulder A, Wattenhofer-Donzé M, Radage A, Mertz A, Eisenmann B, Mianné J, Evans EP, Beechey CV, Fray MD, Birling MC, Hérault Y, Pavlovic G, Teboul L

BMC Cell Biol.. 2016 Aug;17(1):30

Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model of intellectual disability.

Meziane H, Khelfaoui M, Morello N, Hiba B, Calcagno E, Reibel-Foisset S, Selloum M, Chelly J, Humeau Y, Riet F, Zanni G, Herault Y, Bienvenu T, Giustetto M, Billuart P

Hum. Mol. Genet.. 2016 Jun;25(11):2314-2323

Reciprocal Effects on Neurocognitive and Metabolic Phenotypes in Mouse Models of 16p11.2 Deletion and Duplication Syndromes.

Arbogast T, Ouagazzal AM, Chevalier C, Kopanitsa M, Afinowi N, Migliavacca E, Cowling BS, Birling MC, Champy MF, Reymond A, Herault Y

PLoS Genet.. 2016 Feb;12(2):e1005709

Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes.

Delépine C, Meziane H, Nectoux J, Opitz M, Smith AB, Ballatore C, Saillour Y, Bennaceur-Griscelli A, Chang Q, Williams EC, Dahan M, Duboin A, Billuart P, Herault Y, Bienvenu T

Hum. Mol. Genet.. 2016 Jan;25(1):146-57

DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down Syndrome.

Duchon A, Herault Y

Front Behav Neurosci. 2016 ;10:104

How Does Circadian Rhythm Impact Salt Sensitivity of Blood Pressure in Mice? A Study in Two Close C57Bl/6 Substrains.

Combe R, Mudgett J, El Fertak L, Champy MF, Ayme-Dietrich E, Petit-Demoulière B, Sorg T, Herault Y, Madwed JB, Monassier L

PLoS ONE. 2016 ;11(4):e0153472

Conditional depletion of intellectual disability and Parkinsonism candidate gene ATP6AP2 in fly and mouse induces cognitive impairment and neurodegeneration.

Dubos A, Castells-Nobau A, Meziane H, Oortveld MA, Houbaert X, Iacono G, Martin C, Mittelhaeuser C, Lalanne V, Kramer JM, Bhukel A, Quentin C, Slabbert J, Verstreken P, Sigrist SJ, Messaddeq N, Birling MC, Selloum M, Stunnenberg HG, Humeau Y, Schenck A, Herault Y

Hum. Mol. Genet.. 2015 Dec;24(23):6736-55

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh R, Zimmer A, Zimprich A, ,Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD

Nat. Genet.. 2015 Sep;47(9):969-978

Deletion of the App-Runx1 region in mice models human partial monosomy 21.

Arbogast T, Raveau M, Chevalier C, Nalesso V, Dembele D, Jacobs H, Wendling O, Roux M, Duchon A, Herault Y

Dis Model Mech. 2015 06;8(6):623-34

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y

PLoS Genet. 2015 03;11(3):e1005062

Dosage of the Abcg1-U2af1 region modifies locomotor and cognitive deficits observed in the Tc1 mouse model of Down syndrome.

Marechal D, Lopes Pereira P, Duchon A, Herault Y

PLoS ONE. 2015 ;10(2):e0115302

LXR-Mediated ABCA1 Expression and Function Are Modulated by High Glucose and PRMT2.

Hussein MA, Shrestha E, Ouimet M, Barrett TJ, Leone S, Moore KJ, Hérault Y, Fisher EA, Garabedian MJ

PLoS ONE. 2015 ;10(8):e0135218

Pharmacological correction of excitation/inhibition imbalance in Down syndrome mouse models.

Souchet B, Guedj F, Penke-Verdier Z, Daubigney F, Duchon A, Herault Y, Bizot JC, Janel N, Créau N, Delatour B, Delabar JM

Front Behav Neurosci. 2015 ;9:267

Heterozygous deletion of the Williams-Beuren syndrome critical interval in mice recapitulates most features of the human disorder.

Segura-Puimedon M, Sahún I, Velot E, Dubus P, Borralleras C, Rodrigues AJ, Valero MC, Valverde O, Sousa N, Herault Y, Dierssen M, Pérez-Jurado LA, Campuzano V

Hum. Mol. Genet.. 2014 Dec;23(24):6481-94