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Page 1
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: coubes c. Eur J Hum Genet. 2024 Sep;32(9):1144-1149. doi: 10.1038/s41431-024-01560-8. Epub 2024 Feb 15. Eur J Hum Genet. 2024. PMID: 38355961
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene.
Ishmukhametova A, Khau Van Kien P, Méchin D, Thorel D, Vincent MC, Rivier F, Coubes C, Humbertclaude V, Claustres M, Tuffery-Giraud S. Ishmukhametova A, et al. Among authors: coubes c. Eur J Hum Genet. 2012 Oct;20(10):1096-100. doi: 10.1038/ejhg.2012.51. Epub 2012 Apr 18. Eur J Hum Genet. 2012. PMID: 22510846 Free PMC article.
Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?
Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G. Frédéric MY, et al. Among authors: coubes p, coubes c. Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6. Neurogenetics. 2008. PMID: 18322712 Free article.
90 results