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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
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.
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Delanne J, Bruel AL, Huet F, Moutton S, Nambot S, Grisval M, Houcinat N, Kuentz P, Sorlin A, Callier P, Jean-Marcais N, Mosca-Boidron AL, Mau-Them FT, Denommé-Pichon AS, Vitobello A, Lehalle D, El Chehadeh S, Francannet C, Lebrun M, Lambert L, Jacquemont ML, Gerard-Blanluet M, Alessandri JL, Willems M, Thevenon J, Chouchane M, Darmency V, Fatus-Fauconnier C, Gay S, Bournez M, Masurel A, Leguy V, Duffourd Y, Philippe C, Feillet F, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: masurel a. Mol Genet Metab Rep. 2021 Oct 18;29:100812. doi: 10.1016/j.ymgmr.2021.100812. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34712575 Free PMC article. Review.
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
Roux-Levy PH, Sanlaville D, De Freminville B, Touraine R, Masurel A, Gueneau I, Cotinaud-Ricou A, Chancenotte S, Debomy F, Minot D, Bournez M, Rousseau I, Daniel S, Gautier E, Lacombe D, Taupiac E, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Busa T, Edery CP, Cornaton J, Gallard J, Héron D, Rastel C, Thauvin-Robinet C, Verloes A, Binquet C, Faivre L, Lejeune C. Roux-Levy PH, et al. Among authors: masurel a. Eur J Med Genet. 2021 Oct;64(10):104290. doi: 10.1016/j.ejmg.2021.104290. Epub 2021 Jul 15. Eur J Med Genet. 2021. PMID: 34274527
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Thomas Q, Gautier T, Marafi D, Besnard T, Willems M, Moutton S, Isidor B, Cogné B, Conrad S, Tenconi R, Iascone M, Sorlin A, Masurel A, Dabir T, Jackson A, Banka S, Delanne J, Lupski JR, Saadi NW, Alkuraya FS, Zahrani FA, Agrawal PB, England E, Madden JA, Posey JE, Burglen L, Rodriguez D, Chevarin M, Nguyen S, Mau-Them FT, Duffourd Y, Garret P, Bruel AL, Callier P, Marle N, Denomme-Pichon AS, Duplomb L, Philippe C, Thauvin-Robinet C, Govin J, Faivre L, Vitobello A. Thomas Q, et al. Among authors: masurel a. Genet Med. 2021 Oct;23(10):1901-1911. doi: 10.1038/s41436-021-01218-6. Epub 2021 Jun 10. Genet Med. 2021. PMID: 34113008 Free article.
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
Roux-Levy PH, Bournez M, Masurel A, Jean N, Chancenotte S, Bordes M, Debomy F, Minot D, Schmitt E, Vinault S, Gautier E, Lacombe D, Odent S, Mikaty M, Manouvrier S, Ghoumid J, Geneviève D, Lehman N, Philip N, Edery P, Cornaton J, Gallard J, Héron D, Rastel C, Huet F, Thauvin-Robinet C, Verloes A, Binquet C, Tauber M, Lejeune C, Faivre L. Roux-Levy PH, et al. Among authors: masurel a. Eur J Med Genet. 2020 Dec;63(12):104064. doi: 10.1016/j.ejmg.2020.104064. Epub 2020 Sep 28. Eur J Med Genet. 2020. PMID: 32998064
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Geneviève D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Héron D, Jean-Marçais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Rivière JB, O'Roak BJ, Faivre L. Chevarin M, et al. Among authors: masurel a. J Med Genet. 2020 Jul;57(7):466-474. doi: 10.1136/jmedgenet-2019-106425. Epub 2020 Apr 10. J Med Genet. 2020. PMID: 32277047
Palliative Care in SMA Type 1: A Prospective Multicenter French Study Based on Parents' Reports.
Hully M, Barnerias C, Chabalier D, Le Guen S, Germa V, Deladriere E, Vanhulle C, Cuisset JM, Chabrol B, Cances C, Vuillerot C, Espil C, Mayer M, Nougues MC, Sabouraud P, Lefranc J, Laugel V, Rivier F, Louvier UW, Durigneux J, Napuri S, Sarret C, Renouil M, Masurel A, Viallard ML, Desguerre I. Hully M, et al. Among authors: masurel a. Front Pediatr. 2020 Feb 18;8:4. doi: 10.3389/fped.2020.00004. eCollection 2020. Front Pediatr. 2020. PMID: 32133329 Free PMC article.
Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L. Juven A, et al. Among authors: masurel a. Eur J Hum Genet. 2020 Aug;28(8):1044-1055. doi: 10.1038/s41431-020-0582-3. Epub 2020 Feb 18. Eur J Hum Genet. 2020. PMID: 32071410 Free PMC article. Review.
Population and evolutionary genetics of the PAH locus to uncover overdominance and adaptive mechanisms in phenylketonuria: Results from a multiethnic study.
Oussalah A, Jeannesson-Thivisol E, Chéry C, Perrin P, Rouyer P, Josse T, Cano A, Barth M, Fouilhoux A, Mention K, Labarthe F, Arnoux JB, Maillot F, Lenaerts C, Dumesnil C, Wagner K, Terral D, Broué P, De Parscau L, Gay C, Kuster A, Bédu A, Besson G, Lamireau D, Odent S, Masurel A, Rodriguez-Guéant RM, Feillet F, Guéant JL, Namour F. Oussalah A, et al. Among authors: masurel a. EBioMedicine. 2020 Jan;51:102623. doi: 10.1016/j.ebiom.2019.102623. Epub 2020 Jan 7. EBioMedicine. 2020. PMID: 31923802 Free PMC article.
36 results