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Page 1
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.
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.
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
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.
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.
Overweight, obesity, and cardiovascular disease in heterozygous familial hypercholesterolaemia: the EAS FH Studies Collaboration registry.
Elshorbagy A, Vallejo-Vaz AJ, Barkas F, Lyons ARM, Stevens CAT, Dharmayat KI, Catapano AL, Freiberger T, Hovingh GK, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Alhabib KF, Alkhnifsawi M, Almahmeed W, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Arca M, Ashavaid TF, Averna M, Banach M, Becker M, Binder CJ, Bourbon M, Brunham LR, Chlebus K, Corral P, Cruz D, Davletov K, Descamps OS, Dwiputra B, Ezhov M, Groselj U, Harada-Shiba M, Holven KB, Humphries SE, Kayikcioglu M, Khovidhunkit W, Lalic K, Latkovskis G, Laufs U, Liberopoulos E, Lima-Martinez MM, Maher V, Marais AD, März W, Mirrakhimov E, Miserez AR, Mitchenko O, Nawawi H, Nordestgaard BG, Panayiotou AG, Paragh G, Petrulioniene Z, Pojskic B, Postadzhiyan A, Reda A, Reiner Ž, Reyes X, Sadiq F, Sadoh WE, Schunkert H, Shek AB, Stroes E, Su TC, Subramaniam T, Susekov AV, Tilney M, Tomlinson B, Truong TH, Tselepis AD, Tybjærg-Hansen A, Vázquez-Cárdenas A, Viigimaa M, Vohnout B, Yamashita S, Ray KK. Elshorbagy A, et al. Among authors: marais ad. Eur Heart J. 2025 Jan 13:ehae791. doi: 10.1093/eurheartj/ehae791. Online ahead of print. Eur Heart J. 2025. PMID: 39801189
Streamlining Global Germplasm Exchange: Integrating Scientific Rigor and Common Sense to Exclude Phantom Agents from Regulation.
Tzanetakis IE, Aknadibossian V, Špak J, Constable F, Harper SJ, Hammond J, Candresse T, Folimonova SY, Freitas-Astúa J, Fuchs M, Jelkmann W, Maliogka VI, Marais A, Martin RR, Mollov D, Vidalakis G, Aboughanem-Sabanadzovic N, Al Rwahnih M, Alabi OJ, Alioto D, Atanda HY, Bagi F, Baranwal VK, Barbosa C, Bar-Joseph M, Batista Le Riverend L, Belien T, Benítez-Galeano MJ, Bennypaul H, Bertaccini A, Bester R, Blouin AG, Blystad DR, Botermans M, Bozan O, Brakta A, Brans Y, Bulajić A, Caglayan K, Catara A, Choueiri E, Cieślińska M, Cook G, Cui W, da Graça J, Davino S, Delmiglio C, Dewdney MM, Di Serio F, Diaz-Lara A, Digiaro M, Djelouah K, Dong YF, Donovan N, Druciarek TZ, Duran-Vila N, Elçi E, Esquivel-Fariña A, Fall ML, Fan XD, Figueroa J, Fiore N, Fowkes AR, Fox A, Fránová J, Fuchs R, Gaafar YZA, García ML, Ghosh D, Girardi E, Glasa M, Gomez Talquenca S, Gratz A, Gritsenko D, Hajeri S, Hajizadeh M, Hamborg Z, Ho T, Holeva M, Holkar SK, Horner M, Hurtado-Gonzales OP, Ippolito A, Isac V, Iwanami T, Jofre-Y-Garfias AE, Jordan R, Katis N, Koloniuk I, Konings H, Križanac I, Krueger R, Kyrychenko A, Laranjeira F, Lavagi-Craddock I, Levy A, Licciardello G, Lu QY, MacFarlane SA, Marcone … See abstract for full author list ➔ Tzanetakis IE, et al. Among authors: marais a. Plant Dis. 2024 Dec 29:PDIS04240745FE. doi: 10.1094/PDIS-04-24-0745-FE. Online ahead of print. Plant Dis. 2024. PMID: 39743745 Free article.
430 results