Fakhro K - Search Results

1

Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model.

Jacob S, Abuarja T, Shaath R, Hasan W, Balayya S, Abdelrahman D, Almana K, Afreen H, Hani A, Nomikos M, Fakhro K, Elrayess MA, Da'as SI. Jacob S, et al. Among authors: fakhro k. Sci Rep. 2024 Sep 19;14(1):21902. doi: 10.1038/s41598-024-72863-5. Sci Rep. 2024. PMID: 39300306 Free PMC article.

2

Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.

Devadoss Gandhi G, Aliyev E, Syed N, Vempalli FR, Saad C, Mbarek H, Al-Saei O, Al-Maraghi A, Abdi M, Krishnamoorthy N, Badii R; Qatar Genome Program Research Consortium; Akil AA, Ben-Omran T, Fakhro KA. Devadoss Gandhi G, et al. Among authors: fakhro ka. Genet Med. 2024 Dec;26(12):101268. doi: 10.1016/j.gim.2024.101268. Epub 2024 Sep 14. Genet Med. 2024. PMID: 39286960 Free article.

3

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Paracha SA, Nawaz S, Tahir Sarwar M, Shaheen A, Zaman G, Ahmed J, Shah F, Khwaja S, Jan A, Khan N, Kamal MA, Alam Q, Abbas S, Farman S, Waqas A, Alkathiri A, Hamadi A, Santoni F, Ullah N, Khalid B, Antonarakis SE, Fakhro KA, Umair M, Ansar M. Paracha SA, et al. Among authors: fakhro ka. Front Med (Lausanne). 2024 Aug 30;11:1424753. doi: 10.3389/fmed.2024.1424753. eCollection 2024. Front Med (Lausanne). 2024. PMID: 39281811 Free PMC article.

4

Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.

Elfatih A, Saad C; Qatar Genome Program Research Consortium; Mifsud B, Mbarek H. Elfatih A, et al. Eur J Hum Genet. 2024 Nov;32(11):1465-1473. doi: 10.1038/s41431-024-01656-1. Epub 2024 Jul 17. Eur J Hum Genet. 2024. PMID: 39020067 Free PMC article.

5

Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study.

Rossi N, Syed N, Visconti A, Aliyev E, Berry S, Bourbon M, Spector TD, Hysi PG, Fakhro KA, Falchi M. Rossi N, et al. Among authors: fakhro ka. NPJ Genom Med. 2024 Jun 28;9(1):36. doi: 10.1038/s41525-024-00417-9. NPJ Genom Med. 2024. PMID: 38942744 Free PMC article.

6

Genetic background of primary and familial HLH in Qatar: registry data and population study.

Elgaali E, Mezzavilla M, Ahmed I, Elanbari M, Ali A, Abdelaziz G, Fakhro KA, Saleh A, Ben-Omran T, Almulla N, Cugno C. Elgaali E, et al. Among authors: fakhro ka. Front Pediatr. 2024 May 9;12:1326489. doi: 10.3389/fped.2024.1326489. eCollection 2024. Front Pediatr. 2024. PMID: 38808104 Free PMC article.

7

Conserved genes regulating human sex differentiation, gametogenesis and fertilization.

Fakhro KA, Awwad J, Garibova S, Saraiva LR, Avella M. Fakhro KA, et al. J Transl Med. 2024 May 19;22(1):473. doi: 10.1186/s12967-024-05162-2. J Transl Med. 2024. PMID: 38764035 Free PMC article. Review.

8

Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.

Al-Saei O, Malka S, Owen N, Aliyev E, Vempalli FR, Ocieczek P, Al-Khathlan B; Genomics England Research Consortium; Fakhro K, Moosajee M. Al-Saei O, et al. Among authors: fakhro k. BMC Genomics. 2024 May 16;25(1):484. doi: 10.1186/s12864-024-10353-8. BMC Genomics. 2024. PMID: 38755526 Free PMC article.

9

Deciphering the complex interplay of obesity, epithelial barrier dysfunction, and tight junction remodeling: Unraveling potential therapeutic avenues.

AlMarzooqi SK, Almarzooqi F, Sadida HQ, Jerobin J, Ahmed I, Abou-Samra AB, Fakhro KA, Dhawan P, Bhat AA, Al-Shabeeb Akil AS. AlMarzooqi SK, et al. Among authors: fakhro ka. Obes Rev. 2024 Aug;25(8):e13766. doi: 10.1111/obr.13766. Epub 2024 May 14. Obes Rev. 2024. PMID: 38745386 Review.

10

A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review.

Al-Maraghi A, Aamer W, Ziab M, Aliyev E, Elbashir N, Hussein S, Palaniswamy S, Anand D, Love DR, Charles A, A S Akil A, Fakhro KA. Al-Maraghi A, et al. Among authors: fakhro ka. BMC Nephrol. 2024 Apr 22;25(1):139. doi: 10.1186/s12882-024-03569-z. BMC Nephrol. 2024. PMID: 38649831 Free PMC article. Review.

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