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Pathogenic TRIO variants associated with neurodevelopmental disorders perturb the molecular regulation of TRIO and axon pathfinding in vivo.
Bonnet M, Roche F, Fagotto-Kaufmann C, Gazdagh G, Truong I, Comunale F, Barbosa S, Bonhomme M, Nafati N, Hunt D, Rodriguez MP, Chaudhry A, Shears D, Madruga M, Vansenne F, Curie A, Kajava AV, Baralle D, Fassier C, Debant A, Schmidt S. Bonnet M, et al. Among authors: baralle d. Mol Psychiatry. 2023 Apr;28(4):1527-1544. doi: 10.1038/s41380-023-01963-x. Epub 2023 Jan 30. Mol Psychiatry. 2023. PMID: 36717740
PMS2 mutations in childhood cancer.
De Vos M, Hayward BE, Charlton R, Taylor GR, Glaser AW, Picton S, Cole TR, Maher ER, McKeown CM, Mann JR, Yates JR, Baralle D, Rankin J, Bonthron DT, Sheridan E. De Vos M, et al. Among authors: baralle d. J Natl Cancer Inst. 2006 Mar 1;98(5):358-61. doi: 10.1093/jnci/djj073. J Natl Cancer Inst. 2006. PMID: 16507833
Linkage analysis of idiopathic generalised epilepsy in families of probands with Juvenile Myoclonic Epilepsy and marker loci in the region of EPM 1 on chromosome 21 q: Unverricht-Lundborg disease and JME are not allelic variants.
Rees M, Curtis D, Parker K, Sundqvist A, Baralle D, Bespalova IN, Burmeister M, Chung E, Gardiner RM, Whitehouse WP. Rees M, et al. Among authors: baralle d. Neuropediatrics. 1994 Feb;25(1):20-5. doi: 10.1055/s-2008-1071576. Neuropediatrics. 1994. PMID: 8208346
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Yardley J, et al. Among authors: baralle d. Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550. Invest Ophthalmol Vis Sci. 2004. PMID: 15452077
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.
Wheway G, Lord J, Baralle D. Wheway G, et al. Among authors: baralle d. Biochim Biophys Acta Gene Regul Mech. 2019 Nov-Dec;1862(11-12):194433. doi: 10.1016/j.bbagrm.2019.194433. Epub 2019 Nov 4. Biochim Biophys Acta Gene Regul Mech. 2019. PMID: 31698098 Review.
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.
Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, Tudini E, Törngren T, Parsons MT, Pedersen IS, Teo SH, Kruse TA, Møller P, Borg Å, Jensen UB, Christensen LL, Singer CF, Muhr D, Santamarina M, Brandao R, Andresen BS, Feng BJ, Canson D, Richardson ME, Karam R, Pesaran T, LaDuca H, Conner BR, Abualkheir N, Hoang L, Calléja FMGR, Andrews L, James PA, Bunyan D, Hamblett A, Radice P, Goldgar DE, Walker LC, Engel C, Claes KBM, Macháčková E, Baralle D, Viel A, Wappenschmidt B, Lazaro C, Vega A; ENIGMA Consortium; Vreeswijk MPG, de la Hoya M, Spurdle AB. Thomassen M, et al. Among authors: baralle d. Hum Mutat. 2022 Dec;43(12):1921-1944. doi: 10.1002/humu.24449. Epub 2022 Oct 23. Hum Mutat. 2022. PMID: 35979650 Free PMC article.
165 results