Al-Maawali A - Search Results

1

Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.

Al-Thihli K, Afting C, Al-Hashmi N, Mohammed M, Sliwinski S, Al Shibli N, Al-Said K, Al-Kasbi G, Al-Kharusi K, Merle U, Füllekrug J, Al-Maawali A. Al-Thihli K, et al. Clin Genet. 2021 Mar;99(3):376-383. doi: 10.1111/cge.13883. Epub 2020 Nov 25. Clin Genet. 2021. PMID: 33191500

2

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM. Al-Maawali A, et al. Am J Med Genet A. 2016 Feb;170A(2):435-440. doi: 10.1002/ajmg.a.37422. Epub 2015 Oct 13. Am J Med Genet A. 2016. PMID: 26463574 Free PMC article.

3

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.

Al-Nabhani M, Al-Rashdi S, Al-Murshedi F, Al-Kindi A, Al-Thihli K, Al-Saegh A, Al-Futaisi A, Al-Mamari W, Zadjali F, Al-Maawali A. Al-Nabhani M, et al. Clin Genet. 2018 Dec;94(6):495-501. doi: 10.1111/cge.13438. Epub 2018 Sep 12. Clin Genet. 2018. PMID: 30125339

4

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A. Mohammed M, et al. Eur J Med Genet. 2019 Nov;62(11):103583. doi: 10.1016/j.ejmg.2018.11.017. Epub 2018 Nov 22. Eur J Med Genet. 2019. PMID: 30472485

5

Phenotypic spectrum of ALPK3-related cardiomyopathy.

Al Senaidi K, Joshi N, Al-Nabhani M, Al-Kasbi G, Al Farqani A, Al-Thihli K, Al-Maawali A. Al Senaidi K, et al. Am J Med Genet A. 2019 Jul;179(7):1235-1240. doi: 10.1002/ajmg.a.61176. Epub 2019 May 10. Am J Med Genet A. 2019. PMID: 31074094

6

Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.

Al-Futaisi A, Ahmad F, Al-Kasbi G, Al-Thihli K, Koul R, Al-Maawali A. Al-Futaisi A, et al. Clin Genet. 2020 Apr;97(4):666-667. doi: 10.1111/cge.13678. Epub 2019 Dec 6. Clin Genet. 2020. PMID: 31808147 No abstract available.

7

Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.

Seidahmed MZ, Al-Kindi A, Alsaif HS, Miqdad A, Alabbad N, Alfifi A, Abdelbasit OB, Alhussein K, Alsamadi A, Ibrahim N, Al-Futaisi A, Al-Maawali A, Alkuraya FS. Seidahmed MZ, et al. Hum Genet. 2020 Apr;139(4):513-519. doi: 10.1007/s00439-020-02117-7. Epub 2020 Jan 20. Hum Genet. 2020. PMID: 31960134 Clinical Trial.

8

A Novel Splice-Site Variant in SLC12A6 Causes Andermann Syndrome without Agenesis of the Corpus Callosum.

Al Shibli N, Al-Maawali A, Elmanzalawy A, Al-Nabhani M, Koul R, Gabr A, Al Murshedi F. Al Shibli N, et al. J Pediatr Genet. 2020 Dec;9(4):293-295. doi: 10.1055/s-0039-1700975. Epub 2020 Jan 6. J Pediatr Genet. 2020. PMID: 32765936 Free PMC article.

9

Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.

Al-Murshedi F, Mirza H, Al-Saegh A, Al-Nabhani M, Al-Shabibi S, Baawain S, Al-Futaisi A, Al-Shehhi W, Al-Maawali A. Al-Murshedi F, et al. Clin Genet. 2020 Nov;98(5):520-521. doi: 10.1111/cge.13838. Epub 2020 Sep 9. Clin Genet. 2020. PMID: 32901920 No abstract available.

10

Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.

Alzahrani F, Kuwahara H, Long Y, Al-Owain M, Tohary M, AlSayed M, Mahnashi M, Fathi L, Alnemer M, Al-Hamed MH, Lemire G, Boycott KM, Hashem M, Han W, Al-Maawali A, Al Mahrizi F, Al-Thihli K, Gao X, Alkuraya FS. Alzahrani F, et al. Am J Hum Genet. 2020 Dec 3;107(6):1178-1185. doi: 10.1016/j.ajhg.2020.11.007. Epub 2020 Nov 25. Am J Hum Genet. 2020. PMID: 33242396 Free PMC article.

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