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

Marechal D(1)(2)(3)(4), Brault V(1)(2)(3)(4), Leon A(5), Martin D(1)(2)(3)(4), Pereira PL(6), Loaec N(5), Birling MC(7), Friocourt G(5), Blondel M(5), Herault Y(1)(2)(3)(4)(7).
Hum Mol Genet 2019 May 1;28(9):1561-1577

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Erratum: Author Correction: Identification of genes required for eye development by high-throughput screening of mouse knockouts.

Moore BA(1), Leonard BC(#)(2), Sebbag L(#)(1), Edwards SG(1), Cooper A(1), Imai DM(3), Straiton E(4), Santos L(4), Reilly C(3), Griffey SM(3), Bower L(5), Clary D(5), Mason J(6), Roux MJ(7)(8)(9)(10)(11), Meziane H(7)(8)(9)(10)(11), Herault Y(7)(8)(9)(10)(11); International Mouse Phenotyping Consortium, McKerlie C(12)(13), Flenniken AM(12)(14), Nutter LMJ(12)(13), Berberovic Z(12)(14), Owen C(12)(14), Newbigging S(12)(14), Adissu H(12)(14), Eskandarian M(12)(14), Hsu CW(15), Kalaga S(15), Udensi U(15), Asomugha C(15), Bohat R(16), Gallegos JJ(16), Seavitt JR(16), Heaney JD(16), Beaudet AL(16), Dickinson ME(15)(16), Justice MJ(12)(13)(16), Philip V(17), Kumar V(17), Svenson KL(17), Braun RE(17), Wells S(4), Cater H(4), Stewart M(4), Clementson-Mobbs S(4), Joynson R(4), Gao X(18), Suzuki T(19), Wakana S(19), Smedley D(20), Seong JK(21), Tocchini-Valentini G(22), Moore M(23), Fletcher C(24), Karp N(25), Ramirez-Solis R(25), White JK(17)(25), de Angelis MH(26), Wurst W(26), Thomasy SM(2)(27), Flicek P(6), Parkinson H(6), Brown SDM(4), Meehan TF(6), Nishina PM(17), Murray SA(17), Krebs MP(17), Mallon AM(4), Kent Lloyd KC(5), Murphy CJ(2)(27), Moshiri A(27).
Commun Biol 2019 Mar 7;2():97

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

Sugis E(1)(2), Dauvillier J(3), Leontjeva A(4), Adler P(1)(2), Hindie V(5), Moncion T(5), Collura V(5), Daudin R(6)(7), Loe-Mie Y(8), Herault Y(9), Lambert JC(10), Hermjakob H(11), Pupko T(12), Rain JC(5), Xenarios I(13)(14)(15)(16), Vilo J(1)(2), Simonneau M(17)(18), Peterson H(19)(20).
Sci Data 2019 Aug 14;6(1):151

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

Qiu Y(1), Arbogast T(2), Lorenzo SM(3), Li H(1), Tang SC(4), Richardson E(2), Hong O(4), Cho S(4), Shanta O(5), Pang T(4), Corsello C(6), Deutsch CK(7), Chevalier C(3), Davis EE(2), Iakoucheva LM(4), Herault Y(3), Katsanis N(2), Messer K(1), Sebat J(8).
Cell Rep 2019 Sep 24;28(13):3320-3328

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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(1), Chartoire N(1), Piguet F(2), Herault Y(1)(3), Pavlovic G(1).
Curr Protoc Mouse Biol 2019 Dec;9(4):e65

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Severe head dysgenesis resulting from imbalance between anterior and posterior ontogenetic programs.

Grall E(1), Gourain V(2), Nair A(1), Martin E(1), Birling MC(3), Freund JN(4), Duluc I(5).
Cell Death Dis 2019 Oct 24;10(11):812

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

Giannuzzi G(1), Schmidt PJ(2), Porcu E(3), Willemin G(4), Munson KM(5), Nuttle X(5), Earl R(6), Chrast J(4), Hoekzema K(5), Risso D(5), Mannik K(4), De Nittis P(4), Baratz ED(7); 16p11.2 Consortium, Herault Y(8), Gao X(9), Philpott CC(7), Bernier RA(6), Kutalik Z(10), Fleming MD(2), Eichler EE(11), Reymond A(4).
Am J Hum Genet 2019 Oct 21

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The neuroanatomy of Eml1 knockout mice, a model of subcortical heterotopia.

Collins SC(1)(2)(3)(4)(5), Uzquiano A(6)(7)(8), Selloum M(1)(2)(3)(4)(9), Wendling O(1)(2)(3)(4)(9), Gaborit M(1)(2)(3)(4), Osipenko M(1)(2)(3)(4), Birling MC(1)(2)(3)(4)(9), Yalcin B(1)(2)(3)(4), Francis F(6)(7)(8).
J Anat 2019 Jun 7

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Transgenic mouse models expressing human and macaque prion protein exhibit similar prion susceptibility on a strain-dependent manner.

Espinosa JC(1), Comoy EE(2), Marin-Moreno A(3), Aguilar-Calvo P(3), Birling MC(4), Pitarch JL(3), Deslys JP(2), Torres JM(5).
Sci Rep 2019 Oct 30;9(1):15699

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

Ivanova EL(1)(2)(3)(4), Gilet JG(1)(2)(3)(4), Sulimenko V(5), Duchon A(1)(2)(3)(4), Rudolf G(1)(2)(3)(4), Runge K(1)(2)(3)(4), Collins SC(1)(2)(3)(4)(6), Asselin L(1)(2)(3)(4), Broix L(1)(2)(3)(4), Drouot N(1)(2)(3)(4), Tilly P(1)(2)(3)(4), Nusbaum P(7), Vincent A(1)(2)(4), Magnant W(1)(2)(4), Skory V(1)(2)(3)(4), Birling MC(8), Pavlovic G(8), Godin JD(1)(2)(3)(4), Yalcin B(1)(2)(3)(4), Herault Y(1)(2)(3)(4), Draber P(5), Chelly J(1)(2)(3)(4)(9)(10), Hinckelmann MV(11)(12)(13)(14).
Nat Commun 2019 May 13;10(1):2129

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

Bou About G(1), Thiebault E(1), Wattenhofer-Donze M(1), Jacobs H(1), Guimond A(1), Sorg T(1), Robinet E(2), Baumert TF(2), Monassier L(1)(3)(4), Herault Y(1)(5)(6).
Curr Protoc Mouse Biol 2019 Jun;9(2):e62

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