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Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R. Trujillano D, et al. Among authors: marais a. Eur J Hum Genet. 2017 Feb;25(2):176-182. doi: 10.1038/ejhg.2016.146. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848944 Free PMC article.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM, Garcia-Aznar JM, Brandau O, Al-Hakami F, Yüksel Z, Marais A, Grüning NM, Abbasi Moheb L, Paknia O, Alshaikh N, Alameer S, Marafi MJ, Al-Mulla F, Al-Sannaa N, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Among authors: marais a. Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15. Eur J Hum Genet. 2018. PMID: 29449720 Free PMC article.
Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.
Trujillano D, Weiss ME, Köster J, Papachristos EB, Werber M, Kandaswamy KK, Marais A, Eichler S, Creed J, Baysal E, Jaber IY, Mehaney DA, Farra C, Rolfs A. Trujillano D, et al. Among authors: marais a. Mol Genet Genomic Med. 2015 Sep;3(5):396-403. doi: 10.1002/mgg3.149. Epub 2015 Apr 16. Mol Genet Genomic Med. 2015. PMID: 26436105 Free PMC article.
Further clinical and genetic evidence of ASC-1 complex dysfunction in congenital neuromuscular disease.
Marais A, Bertoli-Avella AM, Beetz C, Altunoglu U, Alhashem A, Mohamed S, Alghamdi A, Willems P, Tsoutsou E, Fryssira H, Pons R, Almarzooq R, Karatoprak EY, Ayaz A, Ünverengil G, Calvo M, Yüksel Z, Bauer P. Marais A, et al. Eur J Med Genet. 2022 Aug;65(8):104537. doi: 10.1016/j.ejmg.2022.104537. Epub 2022 Jun 9. Eur J Med Genet. 2022. PMID: 35690317
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
Bertoli-Avella A, Hotakainen R, Al Shehhi M, Urzi A, Pareira C, Marais A, Al Shidhani K, Aloraimi S, Morales-Torres G, Fisher S, Demuth L, Moteleb Selim LA, Al Menabawy N, Busehail M, AlShaikh M, Gilani N, Chalabi DN, Alharbi NS, Alfadhel M, Abdelrahman M, Venselaar H, Anjum N, Saeed A, Alghamdi MA, Aljaedi H, Arabi H, Karageorgou V, Khan S, Hajjari Z, Radefeldt M, Al-Ali R, Tripolszki K, Jamhawi A, Paknia O, Cozma C, Cheema H, Ameziane N, Al-Muhsen S, Bauer P. Bertoli-Avella A, et al. Among authors: marais a. J Med Genet. 2022 Oct;59(10):993-1001. doi: 10.1136/jmedgenet-2021-108150. Epub 2021 Dec 24. J Med Genet. 2022. PMID: 34952832 Free PMC article.
Virome release of an invasive exotic plant species in southern France.
Moubset O, Filloux D, Fontes H, Julian C, Fernandez E, Galzi S, Blondin L, Chehida SB, Lett JM, Mesléard F, Kraberger S, Custer JM, Salywon A, Makings E, Marais A, Chiroleu F, Lefeuvre P, Martin DP, Candresse T, Varsani A, Ravigné V, Roumagnac P. Moubset O, et al. Among authors: marais a. Virus Evol. 2024 Mar 9;10(1):veae025. doi: 10.1093/ve/veae025. eCollection 2024. Virus Evol. 2024. PMID: 38566975 Free PMC article.
Characterization of the RNA Mycovirome Associated with Grapevine Fungal Pathogens: Analysis of Mycovirus Distribution and Their Genetic Variability within a Collection of Botryosphaeriaceae Isolates.
Comont G, Faure C, Candresse T, Laurens M, Valière S, Lluch J, Lefebvre M, Gambier S, Jolivet J, Corio-Costet MF, Marais A. Comont G, et al. Among authors: marais a. Viruses. 2024 Mar 1;16(3):392. doi: 10.3390/v16030392. Viruses. 2024. PMID: 38543758 Free PMC article.
Providing medication for opioid use disorder and HIV pre-exposure prophylaxis at syringe services programs via telemedicine: a pilot study.
McKellar MS, Des Marais AC, Chen H, Choi Y, Lilly R, Ayers D, Bennett J, Kestner L, Perry B, Poley S, Corneli A, Meade CS, Sachdeva N. McKellar MS, et al. Among authors: des marais ac. Harm Reduct J. 2024 Mar 26;21(1):69. doi: 10.1186/s12954-024-00983-2. Harm Reduct J. 2024. PMID: 38532395 Free PMC article. Clinical Trial.
Management of hyperlipidaemia.
Marais AD, Blom DJ, Raal FJ. Marais AD, et al. S Afr Med J. 2024 Mar 18;114(3):e1016. doi: 10.7196/SAMJ.2024.v114i3.1964. S Afr Med J. 2024. PMID: 38525564 Free article. No abstract available.
411 results