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Year Number of Results
2016 2
2017 2
2018 4
2019 4
2020 10
2021 8
2022 9
2023 7
2024 3

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Page 1
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. Genet Med. 2024 Apr 13:101141. doi: 10.1016/j.gim.2024.101141. Online ahead of print. Genet Med. 2024. PMID: 38629401 Free article.
Lethal phenotypes in Mendelian disorders.
Cacheiro P, Lawson S, Van den Veyver IB, Marengo G, Zocche D, Murray SA, Duyzend M, Robinson PN, Smedley D. Cacheiro P, et al. medRxiv [Preprint]. 2024 Jan 13:2024.01.12.24301168. doi: 10.1101/2024.01.12.24301168. medRxiv. 2024. PMID: 38260283 Free PMC article. Updated. Preprint.
Improving prenatal diagnosis through standards and aggregation.
Duyzend MH, Cacheiro P, Jacobsen JOB, Giordano J, Brand H, Wapner RJ, Talkowski ME, Robinson PN, Smedley D. Duyzend MH, et al. Prenat Diagn. 2024 Apr;44(4):454-464. doi: 10.1002/pd.6522. Epub 2024 Jan 19. Prenat Diagn. 2024. PMID: 38242839 Review.
Comprehensive ECG reference intervals in C57BL/6N substrains provide a generalizable guide for cardiac electrophysiology studies in mice.
Oestereicher MA, Wotton JM, Ayabe S, Bou About G, Cheng TK, Choi JH, Clary D, Dew EM, Elfertak L, Guimond A, Haseli Mashhadi H, Heaney JD, Kelsey L, Keskivali-Bond P, Lopez Gomez F, Marschall S, McFarland M, Meziane H, Munoz Fuentes V, Nam KH, Nichtová Z, Pimm D, Bower L, Prochazka J, Rozman J, Santos L, Stewart M, Tanaka N, Ward CS, Willett AME, Wilson R, Braun RE, Dickinson ME, Flenniken AM, Herault Y, Lloyd KCK, Mallon AM, McKerlie C, Murray SA, Nutter LMJ, Sedlacek R, Seong JK, Sorg T, Tamura M, Wells S, Schneltzer E, Fuchs H, Gailus-Durner V, Hrabe de Angelis M, White JK, Spielmann N. Oestereicher MA, et al. Mamm Genome. 2023 Jun;34(2):180-199. doi: 10.1007/s00335-023-09995-y. Epub 2023 Jun 9. Mamm Genome. 2023. PMID: 37294348 Free PMC article. Review.
A consensus score to combine inferences from multiple centres.
Haselimashhadi H, Babalola K, Wilson R, Groza T, Muñoz-Fuentes V. Haselimashhadi H, et al. Mamm Genome. 2023 Sep;34(3):379-388. doi: 10.1007/s00335-023-09993-0. Epub 2023 May 8. Mamm Genome. 2023. PMID: 37154937 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.
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.
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.
Higgins K, Moore BA, Berberovic Z, Adissu HA, Eskandarian M, Flenniken AM, Shao A, Imai DM, Clary D, Lanoue L, Newbigging S, Nutter LMJ, Adams DJ, Bosch F, Braun RE, Brown SDM, Dickinson ME, Dobbie M, Flicek P, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Chin HG, Mammano F, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y; IMPC Consortium; Lloyd KCK, McKerlie C, Moshiri A. Higgins K, et al. Sci Rep. 2022 Dec 1;12(1):20791. doi: 10.1038/s41598-022-19710-7. Sci Rep. 2022. PMID: 36456625 Free PMC article.
46 results