Alhashem AM - Search Results

1

Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.

Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR. Marafi D, et al. Among authors: alhashem am. Brain. 2022 Apr 29;145(3):909-924. doi: 10.1093/brain/awab369. Brain. 2022. PMID: 34605855 Free PMC article.

2

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Saudi Mendeliome Group. Saudi Mendeliome Group. Genome Biol. 2015 Jun 26;16(1):134. doi: 10.1186/s13059-015-0693-2. Genome Biol. 2015. PMID: 26112015 Free PMC article.

3

Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome.

Shamseldin HE, Rajab A, Alhashem A, Shaheen R, Al-Shidi T, Alamro R, Al Harassi S, Alkuraya FS. Shamseldin HE, et al. Am J Hum Genet. 2013 Sep 5;93(3):555-60. doi: 10.1016/j.ajhg.2013.07.012. Epub 2013 Aug 22. Am J Hum Genet. 2013. PMID: 23972372 Free PMC article.

4

Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX.

Adly N, Alhashem A, Ammari A, Alkuraya FS. Adly N, et al. Hum Mutat. 2014 Jan;35(1):36-40. doi: 10.1002/humu.22477. Epub 2013 Nov 25. Hum Mutat. 2014. PMID: 24285566

5

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, Awaji AA, Sogaty S, Alkharashi A, Alzahrani S, Al Hazzaa SA, Xiong Y, Kong S, Sun Z, Alkuraya FS. Aldahmesh MA, et al. Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044. Epub 2014 Jan 31. Hum Mol Genet. 2014. PMID: 24488770 Free PMC article.

6

Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH.

Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan SM, Almadani HA, Al-Onazi N, Al-Baqawi BS, Saleh MA, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2014 Jun 5;94(6):898-904. doi: 10.1016/j.ajhg.2014.04.015. Epub 2014 May 15. Am J Hum Genet. 2014. PMID: 24836451 Free PMC article.

7

Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.

Shaheen R, Al Hashem A, Alghamdi MH, Seidahmad MZ, Wakil SM, Dagriri K, Keavney B, Goodship J, Alyousif S, Al-Habshan FM, Alhussein K, Almoisheer A, Ibrahim N, Alkuraya FS. Shaheen R, et al. J Med Genet. 2015 May;52(5):322-9. doi: 10.1136/jmedgenet-2015-102992. Epub 2015 Feb 23. J Med Genet. 2015. PMID: 25713110

8

Identification of a novel MKS locus defined by TMEM107 mutation.

Shaheen R, Almoisheer A, Faqeih E, Babay Z, Monies D, Tassan N, Abouelhoda M, Kurdi W, Al Mardawi E, Khalil MM, Seidahmed MZ, Alnemer M, Alsahan N, Sogaty S, Alhashem A, Singh A, Goyal M, Kapoor S, Alomar R, Ibrahim N, Alkuraya FS. Shaheen R, et al. Hum Mol Genet. 2015 Sep 15;24(18):5211-8. doi: 10.1093/hmg/ddv242. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123494

9

Severe CNS involvement in WWOX mutations: Description of five new cases.

Tabarki B, AlHashem A, AlShahwan S, Alkuraya FS, Gedela S, Zuccoli G. Tabarki B, et al. Am J Med Genet A. 2015 Dec;167A(12):3209-13. doi: 10.1002/ajmg.a.37363. Epub 2015 Sep 8. Am J Med Genet A. 2015. PMID: 26345274

10

Further Delineation of the ALG9-CDG Phenotype.

AlSubhi S, AlHashem A, AlAzami A, Tlili K, AlShahwan S, Lefeber D, Alkuraya FS, Tabarki B. AlSubhi S, et al. JIMD Rep. 2016;27:107-12. doi: 10.1007/8904_2015_504. Epub 2015 Oct 10. JIMD Rep. 2016. PMID: 26453364 Free PMC article.

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