Found: 12

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  • A replication study of a GWAS finding in migraine does not identify association in a Spanish case-control sample.

    Published in:
    Cephalalgia, 2012, v. 32, n. 14, p. 1076, doi. 10.1177/0333102412457090
    By:
    • Sintas, Cèlia;
    • Carreño, Oriel;
    • Fernández-Morales, Jèssica;
    • Cacheiro, Pilar;
    • Sobrido, María-Jesús;
    • Narberhaus, Bernat;
    • Pozo-Rosich, Patricia;
    • Macaya, Alfons;
    • Cormand, Bru
    Publication type:
    Article

  • Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 231, doi. 10.1002/ajmg.c.31989
    By:
    • Dhombres, Ferdinand;
    • Morgan, Patricia;
    • Chaudhari, Bimal P.;
    • Filges, Isabel;
    • Sparks, Teresa N.;
    • Lapunzina, Pablo;
    • Roscioli, Tony;
    • Agarwal, Umber;
    • Aggarwal, Shagun;
    • Beneteau, Claire;
    • Cacheiro, Pilar;
    • Carmody, Leigh C.;
    • Collardeau‐Frachon, Sophie;
    • Dempsey, Esther A.;
    • Dufke, Andreas;
    • Duyzend, Michael Henri;
    • el Ghosh, Mirna;
    • Giordano, Jessica L.;
    • Glad, Ragnhild;
    • Grinfelde, Ieva
    Publication type:
    Article

  • Mendelian gene identification through mouse embryo viability screening.

    Published in:
    Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01118-7
    By:
    • Cacheiro, Pilar;
    • Westerberg, Carl Henrik;
    • Mager, Jesse;
    • Dickinson, Mary E.;
    • Nutter, Lauryl M. J.;
    • Muñoz-Fuentes, Violeta;
    • Hsu, Chih-Wei;
    • Van den Veyver, Ignatia B.;
    • Flenniken, Ann M.;
    • McKerlie, Colin;
    • Murray, Stephen A.;
    • Teboul, Lydia;
    • Heaney, Jason D.;
    • Lloyd, K. C. Kent;
    • Lanoue, Louise;
    • Braun, Robert E.;
    • White, Jacqueline K.;
    • Creighton, Amie K.;
    • Laurin, Valerie;
    • Guo, Ruolin
    Publication type:
    Article

  • ‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.

    Published in:
    Brain: A Journal of Neurology, 2012, v. 135, n. 5, p. 1423, doi. 10.1093/brain/aws069
    By:
    • García-Murias, María;
    • Quintáns, Beatriz;
    • Arias, Manuel;
    • Seixas, Ana I.;
    • Cacheiro, Pilar;
    • Tarrío, Rosa;
    • Pardo, Julio;
    • Millán, María J.;
    • Arias-Rivas, Susana;
    • Blanco-Arias, Patricia;
    • Dapena, Dolores;
    • Moreira, Ramón;
    • Rodríguez-Trelles, Francisco;
    • Sequeiros, Jorge;
    • Carracedo, Ángel;
    • Silveira, Isabel;
    • Sobrido, María J.
    Publication type:
    Article

  • Essential genes: a cross-species perspective.

    Published in:
    Mammalian Genome, 2023, v. 34, n. 3, p. 357, doi. 10.1007/s00335-023-09984-1
    By:
    • Cacheiro, Pilar;
    • Smedley, Damian
    Publication type:
    Article

  • New models for human disease from the International Mouse Phenotyping Consortium.

    Published in:
    Mammalian Genome, 2019, v. 30, n. 5/6, p. 143, doi. 10.1007/s00335-019-09804-5
    By:
    • Cacheiro, Pilar;
    • Haendel, Melissa A.;
    • Smedley, Damian
    Publication type:
    Article

  • International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.

    Published in:
    Nucleic Acids Research, 2023, v. 51, n. D1, p. D1038, doi. 10.1093/nar/gkac972
    By:
    • Groza, Tudor;
    • Gomez, Federico Lopez;
    • Mashhadi, Hamed Haseli;
    • Muñoz-Fuentes, Violeta;
    • Gunes, Osman;
    • Wilson, Robert;
    • Cacheiro, Pilar;
    • Frost, Anthony;
    • Keskivali-Bond, Piia;
    • Vardal, Bora;
    • McCoy, Aaron;
    • Cheng, Tsz Kwan;
    • Santos, Luis;
    • Wells, Sara;
    • Smedley, Damian;
    • Mallon, Ann-Marie;
    • Parkinson, Helen
    Publication type:
    Article

  • Improving prenatal diagnosis through standards and aggregation.

    Published in:
    Prenatal Diagnosis, 2024, v. 44, n. 4, p. 454, doi. 10.1002/pd.6522
    By:
    • Duyzend, Michael H.;
    • Cacheiro, Pilar;
    • Jacobsen, Julius O. B.;
    • Giordano, Jessica;
    • Brand, Harrison;
    • Wapner, Ronald J.;
    • Talkowski, Michael E.;
    • Robinson, Peter N.;
    • Smedley, Damian
    Publication type:
    Article

  • Databases for neurogenetics: Introduction, overview, and challenges.

    Published in:
    Human Mutation, 2012, v. 33, n. 9, p. 1311, doi. 10.1002/humu.22164
    By:
    • Sobrido, María-Jesús;
    • Cacheiro, Pilar;
    • Carracedo, Ángel;
    • Bertram, Lars
    Publication type:
    Article

  • Correction to: The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.

    Published in:
    2019
    By:
    • Muñoz-Fuentes, Violeta;
    • Cacheiro, Pilar;
    • Meehan, Terrence F.;
    • Aguilar-Pimentel, Juan Antonio;
    • Beaudet, Arthur L.;
    • Brown, Steve D. M.;
    • Dickinson, Mary E.;
    • Flenniken, Ann M.;
    • Flicek, Paul;
    • Galli, Antonella;
    • Mashhadi, Hamed Haseli;
    • Heaney, Jason D.;
    • Hrabě de Angelis, Martin;
    • Kim, Jong Kyoung;
    • Lloyd, K. C. Kent;
    • McKerlie, Colin;
    • Morgan, Hugh;
    • Murray, Stephen A.;
    • Nutter, Lauryl M. J.;
    • Reilly, Patrick T.
    Publication type:
    Correction Notice

  • The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation.

    Published in:
    Conservation Genetics, 2018, v. 19, n. 4, p. 995, doi. 10.1007/s10592-018-1072-9
    By:
    • Muñoz-Fuentes, Violeta;
    • Cacheiro, Pilar;
    • Meehan, Terrence F.;
    • Aguilar-Pimentel, Juan Antonio;
    • Brown, Steve D. M.;
    • Flenniken, Ann M.;
    • Flicek, Paul;
    • Galli, Antonella;
    • Mashhadi, Hamed Haseli;
    • Hrabě de Angelis, Martin;
    • Kim, Jong Kyoung;
    • Lloyd, K. C. Kent;
    • McKerlie, Colin;
    • Morgan, Hugh;
    • Murray, Stephen A.;
    • Nutter, Lauryl M. J.;
    • Reilly, Patrick T.;
    • Seavitt, John R.;
    • Seong, Je Kyung;
    • Simon, Michelle
    Publication type:
    Article

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

    Published in:
    Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-14284-2
    By:
    • Cacheiro, Pilar;
    • Muñoz-Fuentes, Violeta;
    • Murray, Stephen A.;
    • Dickinson, Mary E.;
    • Bucan, Maja;
    • Nutter, Lauryl M. J.;
    • Peterson, Kevin A.;
    • Haselimashhadi, Hamed;
    • Flenniken, Ann M.;
    • Morgan, Hugh;
    • Westerberg, Henrik;
    • Konopka, Tomasz;
    • Hsu, Chih-Wei;
    • Christiansen, Audrey;
    • Lanza, Denise G.;
    • Beaudet, Arthur L.;
    • Heaney, Jason D.;
    • Fuchs, Helmut;
    • Gailus-Durner, Valerie;
    • Sorg, Tania
    Publication type:
    Article