Aamer W - Search Results

1

A recessive variant in SIM2 in a child with complex craniofacial anomalies and global developmental delay.

Al-Kurbi AA, Da'as SI, Aamer W, Krishnamoorthy N, Poggiolini I, Abdelrahman D, Elbashir N, Al-Shabeeb Akil A, Glass GE, Fakhro KA. Al-Kurbi AA, et al. Among authors: aamer w. Eur J Med Genet. 2022 Apr;65(4):104455. doi: 10.1016/j.ejmg.2022.104455. Epub 2022 Feb 16. Eur J Med Genet. 2022. PMID: 35182808

2

PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development.

Da'as SI, Aamer W, Hasan W, Al-Maraghi A, Al-Kurbi A, Kilani H, AlRayahi J, Zamel K, Stotland MA, Fakhro KA. Da'as SI, et al. Among authors: aamer w. Cells. 2020 Jul 27;9(8):1782. doi: 10.3390/cells9081782. Cells. 2020. PMID: 32726939 Free PMC article.

3

Ethnic-specific association of amylase gene copy number with adiposity traits in a large Middle Eastern biobank.

Rossi N, Aliyev E, Visconti A, Akil ASA, Syed N, Aamer W, Padmajeya SS, Falchi M, Fakhro KA. Rossi N, et al. Among authors: aamer w. NPJ Genom Med. 2021 Feb 9;6(1):8. doi: 10.1038/s41525-021-00170-3. NPJ Genom Med. 2021. PMID: 33563995 Free PMC article.

4

A Novel STK4 Mutation Impairs T Cell Immunity Through Dysregulation of Cytokine-Induced Adhesion and Chemotaxis Genes.

Guennoun A, Bougarn S, Khan T, Mackeh R, Rahman M, Al-Ali F, Ata M, Aamer W, Prosser D, Habib T, Chin-Smith E, Al-Darwish K, Zhang Q, Al-Shakaki A, Robay A, Crystal RG, Fakhro K, Al-Naimi A, Al Maslamani E, Tuffaha A, Janahi I, Janahi M, Love DR, Karim MY, Lo B, Hassan A, Adeli M, Marr N. Guennoun A, et al. Among authors: aamer w. J Clin Immunol. 2021 Nov;41(8):1839-1852. doi: 10.1007/s10875-021-01115-2. Epub 2021 Aug 24. J Clin Immunol. 2021. PMID: 34427831 Free PMC article.

5

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes.

Razali RM, Rodriguez-Flores J, Ghorbani M, Naeem H, Aamer W, Aliyev E, Jubran A; Qatar Genome Program Research Consortium; Clark AG, Fakhro KA, Mokrab Y. Razali RM, et al. Among authors: aamer w. Nat Commun. 2021 Oct 12;12(1):5929. doi: 10.1038/s41467-021-25287-y. Nat Commun. 2021. PMID: 34642339 Free PMC article.

6

Qatar genome: Insights on genomics from the Middle East.

Mbarek H, Devadoss Gandhi G, Selvaraj S, Al-Muftah W, Badji R, Al-Sarraj Y, Saad C, Darwish D, Alvi M, Fadl T, Yasin H, Alkuwari F, Razali R, Aamer W, Abbaszadeh F, Ahmed I, Mokrab Y, Suhre K, Albagha O, Fakhro K, Badii R, Ismail SI, Althani A; Qatar Genome Program Research Consortium. Mbarek H, et al. Among authors: aamer w. Hum Mutat. 2022 Apr;43(4):499-510. doi: 10.1002/humu.24336. Epub 2022 Feb 20. Hum Mutat. 2022. PMID: 35112413

7

Patterns and distribution of de novo mutations in multiplex Middle Eastern families.

Kohailan M, Aamer W, Syed N, Padmajeya S, Hussein S, Sayed A, Janardhanan J, Palaniswamy S, El Hajj N, Al-Shabeeb Akil A, Fakhro KA. Kohailan M, et al. Among authors: aamer w. J Hum Genet. 2022 Oct;67(10):579-588. doi: 10.1038/s10038-022-01054-9. Epub 2022 Jun 20. J Hum Genet. 2022. PMID: 35718832 Free PMC article.

8

A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.

Kohailan M, Al-Saei O, Padmajeya S, Aamer W, Elbashir N, Al-Shabeeb Akil A, Kamboh AR, Fakhro K. Kohailan M, et al. Among authors: aamer w. Cold Spring Harb Mol Case Stud. 2022 Jun 22;8(4):a006206. doi: 10.1101/mcs.a006206. Print 2022 Jun. Cold Spring Harb Mol Case Stud. 2022. PMID: 35732499 Free PMC article.

9

Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.

Gandhi GD, Aamer W, Krishnamoorthy N, Syed N, Aliyev E, Al-Maraghi A, Kohailan M, Alenbawi J, Elanbari M; Qatar Genome Program Research Consortium (QGPRC); Mifsud B, Mokrab Y, Abi Khalil C, Fakhro KA. Gandhi GD, et al. Among authors: aamer w. J Transl Med. 2022 Nov 3;20(1):502. doi: 10.1186/s12967-022-03697-w. J Transl Med. 2022. PMID: 36329474 Free PMC article.

10

A Complex Intrachromosomal Rearrangement Disrupting IRF6 in a Family with Popliteal Pterygium and Van der Woude Syndromes.

Al-Kurbi AA, Aliyev E, AlSa'afin S, Aamer W, Palaniswamy S, Al-Maraghi A, Kilani H, Akil AA, Stotland MA, Fakhro KA. Al-Kurbi AA, et al. Among authors: aamer w. Genes (Basel). 2023 Mar 31;14(4):849. doi: 10.3390/genes14040849. Genes (Basel). 2023. PMID: 37107607 Free PMC article.

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