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2003 3
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Page 1
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants.
Jawaid T, Elbarougy DE, Lavu S, Buia G, Senum SR, Olinger E, Yang H, McDonnell SK, Bublitz JT, Ma J, Audrézet MP, Madsen CD, Schauer RS, Baker TA, Gregory AV, Orr SE, Barroso-Gil M, Neatu R, Joli G, Dahl NK, Kline TL, Gillion V, Dahan K, Jouret F, Perrone RD, Steinman TI, Peters DJM, Gitomer BY, Watnick TJ, Coto E, Chebib FT, Hogan MC, Olson JE, Larson NB, Ars E, Halbritter J, Demoulin N, Torres VE, Sayer JA, Cornec-Le Gall E, Harris PC; Genomics England Research Consortium, UK Biobank, HALT PKD, DIPAK, TAME PKD, Genkyst studies, Mayo Clinic Biobank, and Regeneron Genetics Center. Jawaid T, et al. J Am Soc Nephrol. 2025 Jun 1;36(6):1056-1071. doi: 10.1681/ASN.0000000613. Epub 2025 Feb 3. J Am Soc Nephrol. 2025. PMID: 39899384
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.
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Chesneau B, Aubert-Mucca M, Fremont F, Pechmeja J, Soler V, Isidor B, Nizon M, Dollfus H, Kaplan J, Fares-Taie L, Rozet JM, Busa T, Lacombe D, Naudion S, Amiel J, Rio M, Attie-Bitach T, Lesage C, Thouvenin D, Odent S, Morel G, Vincent-Delorme C, Boute O, Vanlerberghe C, Dieux A, Boussion S, Faivre L, Pinson L, Laffargue F, Le Guyader G, Le Meur G, Prieur F, Lambert V, Laudier B, Cottereau E, Ayuso C, Corton-Pérez M, Bouneau L, Le Caignec C, Gaston V, Jeanton-Scaramouche C, Dupin-Deguine D, Calvas P, Chassaing N, Plaisancié J. Chesneau B, et al. Among authors: laudier b. Clin Genet. 2022 May;101(5-6):494-506. doi: 10.1111/cge.14123. Epub 2022 Feb 27. Clin Genet. 2022. PMID: 35170016 Free article.
FG syndrome: the FGS2 locus revisited.
Perche O, Laudier B, Menuet A, Odent S, Laumonnier F, Briault S. Perche O, et al. Among authors: laudier b. Am J Med Genet A. 2012 Jun;158A(6):1489-92. doi: 10.1002/ajmg.a.35322. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528511 No abstract available.
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
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q, Vanhoye X, Yauy K, Naud ME, Vieville G, Rousseau F, Dauriat B, Marquet V, Bourthoumieu S, Geneviève D, Gatinois V, Wells C, Willems M, Coubes C, Pinson L, Dard R, Tessier A, Hervé B, Vialard F, Harzallah I, Touraine R, Cogné B, Deb W, Besnard T, Pichon O, Laudier B, Mesnard L, Doreille A, Busa T, Missirian C, Satre V, Coutton C, Celse T, Harbuz R, Raymond L, Taly JF, Thevenon J. Testard Q, et al. Among authors: laudier b. J Med Genet. 2022 Dec;59(12):1234-1240. doi: 10.1136/jmg-2022-108439. Epub 2022 Sep 22. J Med Genet. 2022. PMID: 36137615
Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.
Perche O, Haddad G, Menuet A, Callier P, Marcos M, Briault S, Laudier B. Perche O, et al. Among authors: laudier b. Am J Med Genet A. 2013 Dec;161A(12):3072-7. doi: 10.1002/ajmg.a.36170. Epub 2013 Aug 16. Am J Med Genet A. 2013. PMID: 23956198
PMX2B, a new candidate gene for Hirschsprung's disease.
Benailly HK, Lapierre JM, Laudier B, Amiel J, Attié T, De Blois MC, Vekemans M, Romana SP. Benailly HK, et al. Among authors: laudier b. Clin Genet. 2003 Sep;64(3):204-9. doi: 10.1034/j.1399-0004.2003.00105.x. Clin Genet. 2003. PMID: 12919134
23 results