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Loss of PHF6 causes spontaneous seizures, enlarged brain ventricles and altered transcription in the cortex of a mouse model of the Börjeson-Forssman-Lehmann intellectual disability syndrome.
McRae HM, Leong MPY, Bergamasco MI, Garnham AL, Hu Y, Corbett MA, Whitehead L, El-Saafin F, Sheikh BN, Wilcox S, Hannan AJ, Gécz J, Smyth GK, Thomas T, Voss AK. McRae HM, et al. Among authors: gecz j. PLoS Genet. 2024 Oct 15;20(10):e1011428. doi: 10.1371/journal.pgen.1011428. eCollection 2024 Oct. PLoS Genet. 2024. PMID: 39405291 Free PMC article.
Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns.
Alshawsh M, Wake M, Gecz J, Corbett M, Saffery R, Pitt J, Greaves R, Williams K, Field M, Cheong J, Bui M, Arora S, Sadedin S, Lunke S, Wall M, Amor DJ, Godler DE. Alshawsh M, et al. Among authors: gecz j. Epigenomics. 2024;16(18):1203-1214. doi: 10.1080/17501911.2024.2402681. Epub 2024 Oct 4. Epigenomics. 2024. PMID: 39365098 Free PMC article.
RNA variant assessment using transactivation and transdifferentiation.
Nicolas-Martinez EC, Robinson O, Pflueger C, Gardner A, Corbett MA, Ritchie T, Kroes T, van Eyk CL, Scheffer IE, Hildebrand MS, Barnier JV, Rousseau V, Genevieve D, Haushalter V, Piton A, Denommé-Pichon AS, Bruel AL, Nambot S, Isidor B, Grigg J, Gonzalez T, Ghedia S, Marchant RG, Bournazos A, Wong WK, Webster RI, Evesson FJ, Jones KJ; PERSYST Investigator Team; Cooper ST, Lister R, Gecz J, Jolly LA. Nicolas-Martinez EC, et al. Among authors: gecz j. Am J Hum Genet. 2024 Aug 8;111(8):1673-1699. doi: 10.1016/j.ajhg.2024.06.018. Epub 2024 Jul 30. Am J Hum Genet. 2024. PMID: 39084224 Free PMC article.
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy.
Wang Y, Xu Y, Zhou C, Cheng Y, Qiao N, Shang Q, Xia L, Song J, Gao C, Qiao Y, Zhang X, Li M, Ma C, Fan Y, Peng X, Wu S, Lv N, Li B, Sun Y, Zhang B, Li T, Li H, Zhang J, Su Y, Li Q, Yuan J, Liu L, Moreno-De-Luca A, MacLennan AH, Gecz J, Zhu D, Wang X, Zhu C, Xing Q. Wang Y, et al. Among authors: gecz j. Nat Med. 2024 May;30(5):1395-1405. doi: 10.1038/s41591-024-02912-z. Epub 2024 May 1. Nat Med. 2024. PMID: 38693247
374 results