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Page 1
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Among authors: cacheiro p. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
Essential genes: a cross-species perspective.
Cacheiro P, Smedley D. Cacheiro P, et al. Mamm Genome. 2023 Sep;34(3):357-363. doi: 10.1007/s00335-023-09984-1. Epub 2023 Mar 10. Mamm Genome. 2023. PMID: 36897351 Free PMC article. Review.
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.
Groza T, Gomez FL, Mashhadi HH, Muñoz-Fuentes V, Gunes O, Wilson R, Cacheiro P, Frost A, Keskivali-Bond P, Vardal B, McCoy A, Cheng TK, Santos L, Wells S, Smedley D, Mallon AM, Parkinson H. Groza T, et al. Among authors: cacheiro p. Nucleic Acids Res. 2023 Jan 6;51(D1):D1038-D1045. doi: 10.1093/nar/gkac972. Nucleic Acids Res. 2023. PMID: 36305825 Free PMC article.
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; International Mouse Phenotyping Consortium; Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A. Chee JM, et al. BMC Biol. 2023 Feb 3;21(1):22. doi: 10.1186/s12915-022-01475-0. BMC Biol. 2023. PMID: 36737727 Free PMC article.
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L, Danis D, Rehburg F, Graefe AS, Bily V, Caballero-Oteyza A, Cacheiro P, Chimirri L, Chong JX, Connelly E, de Vries BB, Dingemans AJ, Duyzend MH, Freiberger T, Gehle P, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Ladewig MS, Love MI, Marcello AJ, Mordhorst A, Munoz-Torres MC, Reese J, Schütz C, Smedley D, Strauss T, Vladyka O, Zocche D, Thun S, Mungall CJ, Haendel MA, Robinson PN. Rekerle L, et al. Among authors: cacheiro p. medRxiv [Preprint]. 2025 Mar 6:2025.03.05.25323315. doi: 10.1101/2025.03.05.25323315. medRxiv. 2025. PMID: 40093222 Free PMC article. Preprint.
MorPhiC Consortium: towards functional characterization of all human genes.
Adli M, Przybyla L, Burdett T, Burridge PW, Cacheiro P, Chang HY, Engreitz JM, Gilbert LA, Greenleaf WJ, Hsu L, Huangfu D, Hung LH, Kundaje A, Li S, Parkinson H, Qiu X, Robson P, Schürer SC, Shojaie A, Skarnes WC, Smedley D, Studer L, Sun W, Vidović D, Vierbuchen T, White BS, Yeung KY, Yue F, Zhou T; MorPhiC Consortium. Adli M, et al. Among authors: cacheiro p. Nature. 2025 Feb;638(8050):351-359. doi: 10.1038/s41586-024-08243-w. Epub 2025 Feb 12. Nature. 2025. PMID: 39939790 Free PMC article.
IMPC impact on preclinical mouse models.
Hölter SM, Cacheiro P, Smedley D, Kent Lloyd KC. Hölter SM, et al. Among authors: cacheiro p. Mamm Genome. 2025 Jun;36(2):384-389. doi: 10.1007/s00335-025-10104-4. Epub 2025 Jan 16. Mamm Genome. 2025. PMID: 39820486 Free PMC article. No abstract available.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: cacheiro p. HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Epub 2024 Oct 10. HGG Adv. 2025. PMID: 39394689 Free PMC article.
28 results