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Research
  1. Queen Mary University of London
  2. Research
  3. Publications

Publications: Dr Pilar Cacheiro Martinez

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Cacheiro P, Pava D, Parkinson H, VanZanten M, Wilson R, Gunes O, Consortium TIMP, Smedley D ( 2024 ) . Computational identification of disease models through cross-species phenotype comparison . Disease Models & Mechanisms vol. 17 , ( 6 )
Danis D, Bamshad MJ, Bridges Y, Cacheiro P, Carmody LC, Chong JX, Coleman B, Dalgleish R et al. ( 2024 ) . A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery . vol. 5 , ( 06-07 )
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN et al. ( 2024 ) . Lethal phenotypes in Mendelian disorders . Genetics in Medicine vol. 26 , ( 7 )
Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN et al. ( 2024 ) . Improving prenatal diagnosis through standards and aggregation . Prenatal Diagnosis vol. 44 , ( 4 ) 454 - 464 .
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S et al. ( 2023 ) . Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration . American Journal of Human Genetics vol. 110 , ( 8 ) 1356 - 1376 .
Cacheiro P, Spielmann N, Mashhadi HH, Fuchs H, Gailus-Durner V, Smedley D, de Angelis MH ( 2023 ) . Knockout mice represent an important tool for the multisystemic study of human monogenic heart disease . Disease Models & Mechanisms vol. 16 , ( 5 )
Cacheiro P, Smedley D ( 2023 ) . Essential genes: a cross-species perspective . Mammalian Genome vol. 34 , ( 3 ) 357 - 363 .
Groza T, Gomez FL, Mashhadi HH, Muñoz-Fuentes V, Gunes O, Wilson R, Cacheiro P, Frost A et al. ( 2022 ) . The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease . Nucleic Acids Research vol. 51 , ( D1 ) d1038 - d1045 .
Cacheiro P, Westerberg CH, Mager J, Dickinson ME, Nutter LMJ, Muñoz-Fuentes V, Hsu C-W, Van den Veyver IB et al. ( 2022 ) . Mendelian gene identification through mouse embryo viability screening . Genome Medicine vol. 14 , ( 1 )
Dhombres F, Morgan P, Chaudhari BP, Filges I, Sparks TN, Lapunzina P, Roscioli T, Agarwal U et al. ( 2022 ) . Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology . American Journal of Medical Genetics Part C Seminars in Medical Genetics vol. 190 , ( 2 ) 231 - 242 .
Smedley D, Smith KR, Martin AR, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D et al. ( 2021 ) . Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome . Nature Genetics vol. 53 , ( 7 ) 1006 - 1021 .
Cacheiro P, Muñoz-Fuentes V, Murray SA, Dickinson ME, Bucan M, Nutter LMJ, Peterson KA, Haselimashhadi H et al. ( 2020 ) . Human and mouse essentiality screens as a resource for disease gene discovery . Nature Communications vol. 11 , ( 1 )
Cacheiro P, Haendel MA, Smedley D ( 2019 ) . New models for human disease from the International Mouse Phenotyping Consortium . Mammalian Genome vol. 30 , ( 5-6 ) 143 - 150 .
Muñoz-Fuentes V, Cacheiro P, Meehan TF, Aguilar-Pimentel JA, Brown SDM, Flenniken AM, Flicek P, Galli A et al. ( 2018 ) . The International Mouse Phenotyping Consortium (IMPC): a functional catalogue of the mammalian genome that informs conservation . Conservation Genetics vol. 19 , ( 4 ) 995 - 1005 .
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