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Mamm Genome. 2023 06 9;:

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

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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

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

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

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;:

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):

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

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

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

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

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

Soft Windowing Application to Improve Analysis of High-throughput Phenotyping Data.

Haselimashhadi H, Mason JC, Munoz-Fuentes V, López-Gómez F, Babalola K, Acar EF, Kumar V, White J, Flenniken AM, King R, Straiton E, Seavitt JR, Gaspero A, Garza A, Christianson AE, Hsu CW, Reynolds CL, Lanza DG, Lorenzo I, Green JR, Gallegos JJ, Bohat R, Samaco RC, Veeraragavan S, Kim JK, Miller G, Fuchs H, Garrett L, Becker L, Kang YK, Clary D, Cho SY, Tamura M, Tanaka N, Soo KD, Bezginov A, About GB, Champy MF, Vasseur L, Leblanc S, Meziane H, Selloum M, Reilly PT, Spielmann N, Maier H, Gailus-Durner V, Sorg T, Hiroshi M, Yuichi O, Heaney JD, Dickinson ME, Wolfgang W, Tocchini-Valentini GP, Lloyd KCK, McKerlie C, Seong JK, Yann H, de Angelis MH, Brown SDM, Smedley D, Flicek P, Mallon AM, Parkinson H, Meehan TF

Bioinformatics. 2019 Oct 8;:

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

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;:

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

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

Non-invasive quantitative imaging of hepatocellular carcinoma growth in mice by micro-CT using liver-targeted iodinated nano-emulsions.

Anton N, Parlog A, Bou About G, Attia MF, Wattenhofer-Donzé M, Jacobs H, Goncalves I, Robinet E, Sorg T, Vandamme TF

Sci Rep. 2017 Oct 24;7(1):13935

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

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

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

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

RF313, an orally bioavailable neuropeptide FF receptor antagonist, opposes effects of RF-amide-related peptide-3 and opioid-induced hyperalgesia in rodents.

Elhabazi K, Humbert JP, Bertin I, Quillet R, Utard V, Schneider S, Schmitt M, Bourguignon JJ, Laboureyras E, Ben Boujema M, Simonnet G, Ancel C, Simonneaux V, Beltramo M, Bucher B, Sorg T, Meziane H, Schneider E, Petit-Demoulière B, Ilien B, Bihel F, Simonin F

Neuropharmacology. 2017 Mar;118:188-198

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome.

Sellier C, Buijsen RA, He F, Natla S, Jung L, Tropel P, Gaucherot A, Jacobs H, Meziane H, Vincent A, Champy MF, Sorg T, Pavlovic G, Wattenhofer-Donze M, Birling MC, Oulad-Abdelghani M, Eberling P, Ruffenach F, Joint M, Anheim M, Martinez-Cerdeno V, Tassone F, Willemsen R, Hukema RK, Viville S, Martinat C, Todd PK, Charlet-Berguerand N

Neuron. 2017 Jan;93(2):331-347

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

Multimodal imaging of a humanized orthotopic model of hepatocellular carcinoma in immunodeficient mice.

Wu T, Heuillard E, Lindner V, Bou About G, Ignat M, Dillenseger JP, Anton N, Dalimier E, Gossé F, Fouré G, Blindauer F, Giraudeau C, El-Saghire H, Bouhadjar M, Calligaro C, Sorg T, Choquet P, Vandamme T, Ferrand C, Marescaux J, Baumert TF, Diana M, Pessaux P, Robinet E

Sci Rep. 2016 Oct;6:35230

Role of the BAHD1 Chromatin-Repressive Complex in Placental Development and Regulation of Steroid Metabolism.

Lakisic G, Lebreton A, Pourpre R, Wendling O, Libertini E, Radford EJ, Le Guillou M, Champy MF, Wattenhofer-Donzé M, Soubigou G, Ait-Si-Ali S, Feunteun J, Sorg T, Coppée JY, Ferguson-Smith AC, Cossart P, Bierne H

PLoS Genet.. 2016 Mar;12(3):e1005898

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

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

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

Applying the ARRIVE Guidelines to an In Vivo Database.

Karp NA, Meehan TF, Morgan H, Mason JC, Blake A, Kurbatova N, Smedley D, Jacobsen J, Mott RF, Iyer V, Matthews P, Melvin DG, Wells S, Flenniken AM, Masuya H, Wakana S, White JK, Lloyd KC, Reynolds CL, Paylor R, West DB, Svenson KL, Chesler EJ, de Angelis MH, Tocchini-Valentini GP, Sorg T, Herault Y, Parkinson H, Mallon AM, Brown SD

PLoS Biol. 2015 May 20;13(5):e1002151

Hyperactivation of Alk induces neonatal lethality in knock-in AlkF1178L mice.

Lopez-Delisle L, Pierre-Eugene C, Bloch-Gallego E, Birling MC, Duband JL, Durand E, Bourgeois T, Matrot B, Sorg T, Huerre M, Meziane H, Roux MJ, Champy MF, Gallego J, Delattre O, Janoueix-Lerosey I

Oncotarget. 2014 May 15;5(9):2703-13.

Regulator of g-protein signaling 18 controls both platelet generation and function.

Delesque-Touchard N, Pendaries C, Volle-Challier C, Millet L, Salel V, Herve C, Pflieger AM, Berthou-Soulie L, Prades C, Sorg T, Herbert JM, Savi P, Bono F

PLoS One. 2014 Nov 18;9(11):e113215

Endogenous mammalian RF-amide peptides, including PrRP, kisspeptin and 26RFa, modulate nociception and morphine analgesia via NPFF receptors.

Elhabazi K, Humbert JP, Bertin I, Schmitt M, Bihel F, Bourguignon JJ, Bucher B, Becker JA, Sorg T, Meziane H, Petit-Demouliere B, Ilien B, Simonin F

Neuropharmacology. 2013 Dec;75:164-71