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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 2
2003 2
2005 2
2006 2
2007 1
2008 3
2009 1
2010 4
2011 3
2012 2
2013 4
2014 10
2015 4
2016 3
2017 5
2018 10
2019 9
2020 11
2021 8
2022 4
2024 2

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80 results

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Page 1
Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.
Houdayer C, Phillips AM, Chabbert M, Bourreau J, Maroofian R, Houlden H, Richards K, Saadi NW, Dad'ová E, Van Bogaert P, Rupin M, Keren B, Charles P, Smol T, Riquet A, Pais L, O'Donnell-Luria A, VanNoy GE, Bayat A, Møller RS, Olofsson K, Abou Jamra R, Syrbe S, Dasouki M, Seaver LH, Sullivan JA, Shashi V, Alkuraya FS, Poss AF, Spence JE, Schnur RE, Forster IC, Mckenzie CE, Simons C, Wang M, Snell P, Kothur K, Buckley M, Roscioli T, Elserafy N, Dauriat B, Procaccio V, Henrion D, Lenaers G, Colin E, Verbeek NE, Van Gassen KL, Legendre C, Bonneau D, Reid CA, Howell KB, Ziegler A, Legros C. Houdayer C, et al. Among authors: dasouki m. medRxiv [Preprint]. 2024 Mar 22:2024.03.19.24303984. doi: 10.1101/2024.03.19.24303984. medRxiv. 2024. PMID: 38562733 Free PMC article. Preprint.
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: dasouki m. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH, Hussein MH, Shah Y, Al-Mojalli H, Alsabban E, Alshareef T, Altayyar A, Elshouny S, Ali W, Abduljabbar M, AlOtaibi A, AlShammasi A, Akili R, Abouelhoda M, Sayer JA, Dasouki MJ, Imtiaz F. Al-Hamed MH, et al. Among authors: dasouki mj. Hum Mutat. 2022 Dec;43(12):e24-e37. doi: 10.1002/humu.24480. Epub 2022 Oct 8. Hum Mutat. 2022. PMID: 36177613
Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.
Moreno Traspas R, Teoh TS, Wong PM, Maier M, Chia CY, Lay K, Ali NA, Larson A, Al Mutairi F, Al-Sannaa NA, Faqeih EA, Alfadhel M, Cheema HA, Dupont J, Bézieau S, Isidor B, Low DY, Wang Y, Tan G, Lai PS, Piloquet H, Joubert M, Kayserili H, Kripps KA, Nahas SA, Wartchow EP, Warren M, Bhavani GS, Dasouki M, Sandoval R, Carvalho E, Ramos L, Porta G, Wu B, Lashkari HP, AlSaleem B, BaAbbad RM, Abreu Ferrão AN, Karageorgou V, Ordonez-Herrera N, Khan S, Bauer P, Cogne B, Bertoli-Avella AM, Vincent M, Girisha KM, Reversade B. Moreno Traspas R, et al. Among authors: dasouki m. Nat Genet. 2022 Aug;54(8):1214-1226. doi: 10.1038/s41588-022-01120-0. Epub 2022 Jul 21. Nat Genet. 2022. PMID: 35864190 Free PMC article.
Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.
Jacob M, Masood A, Shinwari Z, Abdel Jabbar M, Al-Mousa H, Arnaout R, AlSaud B, Dasouki M, Alaiya AA, Abdel Rahman AM. Jacob M, et al. Among authors: dasouki m. Front Allergy. 2021 Nov 29;2:774902. doi: 10.3389/falgy.2021.774902. eCollection 2021. Front Allergy. 2021. PMID: 35386989 Free PMC article.
Author Correction: DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.
Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS. Jabara HH, et al. Among authors: dasouki m. Nat Immunol. 2022 May;23(5):815. doi: 10.1038/s41590-022-01180-8. Nat Immunol. 2022. PMID: 35332329 No abstract available.
Metabolomics Profiling of Cystic Renal Disease towards Biomarker Discovery.
Sriwi D, Alabdaljabar MS, Jacob M, Mujamammi AH, Gu X, Sabi EM, Li L, Hussein MH, Dasouki M, Abdel Rahman AM. Sriwi D, et al. Among authors: dasouki m. Biology (Basel). 2021 Aug 13;10(8):770. doi: 10.3390/biology10080770. Biology (Basel). 2021. PMID: 34440002 Free PMC article.
Molecular classification of blood and bleeding disorder genes.
Baz B, Abouelhoda M, Owaidah T, Dasouki M, Monies D, Al Tassan N. Baz B, et al. Among authors: dasouki m. NPJ Genom Med. 2021 Jul 16;6(1):62. doi: 10.1038/s41525-021-00228-2. NPJ Genom Med. 2021. PMID: 34272389 Free PMC article.
Comprehensive multi-omics analysis of G6PC3 deficiency-related congenital neutropenia with inflammatory bowel disease.
Dasouki M, Alaiya A, ElAmin T, Shinwari Z, Monies D, Abouelhoda M, Jabaan A, Almourfi F, Rahbeeni Z, Alsohaibani F, Almohareb F, Al-Zahrani H, Guzmán Vega FJ, Arold ST, Aljurf M, Ahmed SO. Dasouki M, et al. iScience. 2021 Feb 25;24(3):102214. doi: 10.1016/j.isci.2021.102214. eCollection 2021 Mar 19. iScience. 2021. PMID: 33748703 Free PMC article.
80 results