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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM).
Tucker EJ, Rius R, Jaillard S, Bell K, Lamont PJ, Travessa A, Dupont J, Sampaio L, Dulon J, Vuillaumier-Barrot S, Whalen S, Isapof A, Stojkovic T, Quijano-Roy S, Robevska G, van den Bergen J, Hanna C, Simpson A, Ayers K, Thorburn DR, Christodoulou J, Touraine P, Sinclair AH. Tucker EJ, et al. Among authors: simpson a. Hum Genet. 2020 Oct;139(10):1325-1343. doi: 10.1007/s00439-020-02176-w. Epub 2020 May 12. Hum Genet. 2020. PMID: 32399598
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss.
Neyroud AS, Rudinger-Thirion J, Frugier M, Riley LG, Bidet M, Akloul L, Simpson A, Gilot D, Christodoulou J, Ravel C, Sinclair AH, Belaud-Rotureau MA, Tucker EJ, Jaillard S. Neyroud AS, et al. Among authors: simpson a. Eur J Hum Genet. 2023 Apr;31(4):453-460. doi: 10.1038/s41431-022-01252-1. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450801 Free PMC article.
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh S, Hock DH, Siddall NA, Kline BL, Sreenivasan R, Bell KM, Casagranda F, Kamalanathan S, Sahoo J, Narayanan N, Naik D, Suryadevara V, Compton AG, Amarasekera SSC, Kapoor R, Jaillard S, Simpson A, Robevska G, van den Bergen J, Pachernegg S, Ayers KL, Thorburn DR, Stroud DA, Hime GR, Sinclair AH, Tucker EJ. Bakhshalizadeh S, et al. Among authors: simpson a. Hum Genet. 2023 Jul;142(7):879-907. doi: 10.1007/s00439-023-02563-z. Epub 2023 May 6. Hum Genet. 2023. PMID: 37148394 Free PMC article.
Feline Aural Inflammatory Polyps.
Souza CP, Simpson AC. Souza CP, et al. Among authors: simpson ac. Vet Clin North Am Small Anim Pract. 2025 Jan 16:S0195-5616(24)00108-6. doi: 10.1016/j.cvsm.2024.11.004. Online ahead of print. Vet Clin North Am Small Anim Pract. 2025. PMID: 39824732 Review.
Thoracolumbar Fracture: A Natural History Study of Survival Following Injury.
Striano BM, Crawford AM, Gong J, Desai V, Gabriel DC, Bellamy JT, Mukorombindo T, Cohen LL, Simpson AK, Schoenfeld AJ. Striano BM, et al. Among authors: simpson ak. J Bone Joint Surg Am. 2024 Nov 19. doi: 10.2106/JBJS.24.00706. Online ahead of print. J Bone Joint Surg Am. 2024. PMID: 39813477
State shifts in the deep Critical Zone drive landscape evolution in volcanic terrains.
Karlstrom L, Klema N, Grant GE, Finn C, Sullivan PL, Cooley S, Simpson A, Fasth B, Cashman K, Ferrier K, Ball L, McKay D. Karlstrom L, et al. Among authors: simpson a. Proc Natl Acad Sci U S A. 2025 Jan 21;122(3):e2415155122. doi: 10.1073/pnas.2415155122. Epub 2025 Jan 13. Proc Natl Acad Sci U S A. 2025. PMID: 39805016
3,374 results