Al-Abdi L - Search Results

1

Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits.

Zha C, Farah CA, Holt RJ, Ceroni F, Al-Abdi L, Thuriot F, Khan AO, Helaby R, Lévesque S, Alkuraya FS, Kraus A, Ragge NK, Sossin WS. Zha C, et al. Hum Mol Genet. 2020 Nov 4;29(18):3054-3063. doi: 10.1093/hmg/ddaa198. Hum Mol Genet. 2020. PMID: 32885237 Free PMC article.

2

Molecular characterization of newborn glaucoma including a distinct aniridic phenotype.

Khan AO, Aldahmesh MA, Al-Abdi L, Mohamed JY, Hashem M, Al-Ghamdi I, Alkuraya FS. Khan AO, et al. Ophthalmic Genet. 2011 Sep;32(3):138-42. doi: 10.3109/13816810.2010.544365. Epub 2011 Feb 9. Ophthalmic Genet. 2011. PMID: 21306220

3

Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations.

Khan AO, Al-Abdi L, Mohamed JY, Aldahmesh MA, Alkuraya FS. Khan AO, et al. J AAPOS. 2011 Apr;15(2):198-9. doi: 10.1016/j.jaapos.2011.01.156. J AAPOS. 2011. PMID: 21596299

4

Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

Abu-Safieh L, Abboud EB, Alkuraya H, Shamseldin H, Al-Enzi S, Al-Abdi L, Hashem M, Colak D, Jarallah A, Ahmad H, Bobis S, Nemer G, Bitar F, Alkuraya FS. Abu-Safieh L, et al. Am J Hum Genet. 2011 Aug 12;89(2):313-9. doi: 10.1016/j.ajhg.2011.07.010. Am J Hum Genet. 2011. PMID: 21835307 Free PMC article.

5

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, Sirelkhatim MO, Al-Hassnan Z, Alkuraya B, Mohamed JY, Al-Salem A, Alrashed M, Faqeih E, Softah A, Al-Hashem A, Wali S, Rahbeeni Z, Alsayed M, Khan AO, Al-Gazali L, Taschner PE, Al-Hazzaa S, Alkuraya FS. Abu-Safieh L, et al. Eur J Hum Genet. 2012 Apr;20(4):420-7. doi: 10.1038/ejhg.2011.205. Epub 2012 Feb 22. Eur J Hum Genet. 2012. PMID: 22353939 Free PMC article.

6

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.

Abu-Safieh L, Alrashed M, Anazi S, Alkuraya H, Khan AO, Al-Owain M, Al-Zahrani J, Al-Abdi L, Hashem M, Al-Tarimi S, Sebai MA, Shamia A, Ray-Zack MD, Nassan M, Al-Hassnan ZN, Rahbeeni Z, Waheeb S, Alkharashi A, Abboud E, Al-Hazzaa SA, Alkuraya FS. Abu-Safieh L, et al. Genome Res. 2013 Feb;23(2):236-47. doi: 10.1101/gr.144105.112. Epub 2012 Oct 26. Genome Res. 2013. PMID: 23105016 Free PMC article.

7

CNP deficiency causes severe hypomyelinating leukodystrophy in humans.

Al-Abdi L, Al Murshedi F, Elmanzalawy A, Al Habsi A, Helaby R, Ganesh A, Ibrahim N, Patel N, Alkuraya FS. Al-Abdi L, et al. Hum Genet. 2020 May;139(5):615-622. doi: 10.1007/s00439-020-02144-4. Epub 2020 Mar 3. Hum Genet. 2020. PMID: 32128616

8

Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.

Maddirevula S, Shamseldin HE, Sirr A, AlAbdi L, Lo RS, Ewida N, Al-Qahtani M, Hashem M, Abdulwahab F, Aboyousef O, Kaya N, Monies D, Salem MH, Al Harbi N, Aldhalaan HM, Alzaidan H, Almanea HM, Alsalamah AK, Al Mutairi F, Ismail S, Abdel-Salam GMH, Alhashem A, Asery A, Faqeih E, AlQassmi A, Al-Hamoudi W, Algoufi T, Shagrani M, Dudley AM, Alkuraya FS. Maddirevula S, et al. Front Genet. 2020 Dec 31;11:580484. doi: 10.3389/fgene.2020.580484. eCollection 2020. Front Genet. 2020. PMID: 33456446 Free PMC article.

9

Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.

Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Khan AO, et al. Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5. Mol Genet Genomic Med. 2021. PMID: 33951325 Free PMC article.

10

Residual risk for additional recessive diseases in consanguineous couples.

AlAbdi L, Alrashseed S, Alsulaiman A, Helaby R, Imtiaz F, Alhamed M, Alkuraya FS. AlAbdi L, et al. Genet Med. 2021 Dec;23(12):2448-2454. doi: 10.1038/s41436-021-01289-5. Epub 2021 Jul 27. Genet Med. 2021. PMID: 34316023 Free article.

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