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Page 1
Prenatal and neonatal phenotype of Larsen of La Réunion Island syndrome (B4GALT7-linkeropathy).
Alessandri JL, Celse T, Spodenkiewicz M, Calaya A, Dumont C, Jacquemont ML, Bertaut-Nativel B, Boumahni B, Rémy M, Ferroul F, Guilly S, Huby T, Irabé M, Laurens T, Munier P, Morel G, Payet F, Randrianaivo H, Doray B, Dospeux J. Alessandri JL, et al. Among authors: doray b. Eur J Med Genet. 2024 Jun;69:104940. doi: 10.1016/j.ejmg.2024.104940. Epub 2024 May 3. Eur J Med Genet. 2024. PMID: 38705458 Free article.
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.
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
Classification of PTEN germline non-truncating variants: a new approach to interpretation.
Margot H, Jones N, Matis T, Bonneau D, Busa T, Bonnet F, Conrad S, Crivelli L, Monin P, Fert-Ferrer S, Mortemousque I, Raad S, Lacombe D, Caux F, Sevenet N, Bubien V, Longy M; French Cowden Disease Network. Margot H, et al. J Med Genet. 2024 Nov 25;61(12):1071-1079. doi: 10.1136/jmg-2024-109982. J Med Genet. 2024. PMID: 39358013
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Masson J, Pebrel-Richard C, Egloff M, Frétigny M, Beaumont M, Uguen K, Rollat-Farnier PA, Diguet F, Perthus I, Le Gudayer G, Haye D, Dupeyron MB, Putoux A, Raskin-Champion F, Till M, Chatron N, Doray B, Bardel C, Vinciguerra C, Sanlaville D, Schluth-Bolard C. Masson J, et al. Among authors: doray b. Clin Genet. 2023 Apr;103(4):401-412. doi: 10.1111/cge.14291. Epub 2023 Jan 19. Clin Genet. 2023. PMID: 36576162
Lipoatrophic diabetes in familial partial lipodystrophy type 2: From insulin resistance to diabetes.
Treiber G, Guilleux A, Huynh K, Bonfanti O, Flaus-Furmaniuk A, Couret D, Mellet N, Bernard C, Le-Moullec N, Doray B, Jéru I, Maiza JC, Domun B, Cogne M, Meilhac O, Vigouroux C, Meikle PJ, Nobécourt E. Treiber G, et al. Among authors: doray b. Diabetes Metab. 2023 Mar;49(2):101409. doi: 10.1016/j.diabet.2022.101409. Epub 2022 Nov 15. Diabetes Metab. 2023. PMID: 36400409
Molecular Insights into the Regulation of GNPTAB by TMEM251.
Yang X, Doray B, Venkatarangan V, Jennings BC, Henn D, Liang J, Zhao H, Zhang W, Zhang B, Yu L, Chen L, Kornfeld S, Li M. Yang X, et al. Among authors: doray b. bioRxiv [Preprint]. 2024 Dec 5:2024.12.05.627003. doi: 10.1101/2024.12.05.627003. bioRxiv. 2024. PMID: 39677738 Free PMC article. Preprint.
GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice.
Takahashi K, Rensing NR, Eultgen EM, Wang SH, Nelvagal HR, Le SQ, Roberts MS, Doray B, Han EB, Dickson PI, Wong M, Sands MS, Cooper JD. Takahashi K, et al. Among authors: doray b. bioRxiv [Preprint]. 2024 Mar 30:2024.03.29.587276. doi: 10.1101/2024.03.29.587276. bioRxiv. 2024. PMID: 38585903 Free PMC article. Preprint.
165 results