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Page 1
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: petit fm. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing.
Krahn M, Biancalana V, Cerino M, Perrin A, Michel-Calemard L, Nectoux J, Leturcq F, Bouchet-Séraphin C, Acquaviva-Bourdain C, Campana-Salort E, Molon A, Urtizberea JA, Audic F, Chabrol B, Pouget J, Froissart R, Melki J, Rendu J, Petit F, Métay C, Seta N, Sternberg D, Fauré J, Cossée M. Krahn M, et al. Eur J Hum Genet. 2019 Mar;27(3):349-352. doi: 10.1038/s41431-018-0305-1. Epub 2018 Dec 14. Eur J Hum Genet. 2019. PMID: 30552423 Free PMC article.
The Tunisian population history through the Crigler-Najjar type I syndrome.
Petit FM, Bézieau S, Gajdos V, Parisot F, Scoul C, Capel L, Stozinic V, Khrouf N, M'Rad R, Koshy A, Mollet-Boudjemline A, Francoual J, Labrune P. Petit FM, et al. Eur J Hum Genet. 2008 Jul;16(7):848-53. doi: 10.1038/sj.ejhg.5201989. Epub 2008 Jan 16. Eur J Hum Genet. 2008. PMID: 18197191
Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism.
Tosca L, Brisset S, Petit FM, Lecerf L, Rousseau G, Bas C, Laroudie M, Maurin ML, Tapia S, Picone O, Prevot S, Goossens M, Labrune P, Tachdjian G. Tosca L, et al. Among authors: petit fm. Eur J Hum Genet. 2010 Aug;18(8):882-8. doi: 10.1038/ejhg.2010.46. Epub 2010 Apr 28. Eur J Hum Genet. 2010. PMID: 20424646 Free PMC article.
15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028
Genotype-phenotype correlation in 13q13.3-q21.3 deletion.
Tosca L, Brisset S, Petit FM, Metay C, Latour S, Lautier B, Lebas A, Druart L, Picone O, Mas AE, Prévot S, Tardieu M, Goossens M, Tachdjian G. Tosca L, et al. Among authors: petit fm. Eur J Med Genet. 2011 Sep-Oct;54(5):e489-94. doi: 10.1016/j.ejmg.2011.06.004. Epub 2011 Jun 21. Eur J Med Genet. 2011. PMID: 21741501
34 results