Shaheen R - Search Results

1

Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.

McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: shaheen r. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.

2

A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome.

Shaheen R, Faqeih E, Ansari S, Alkuraya FS. Shaheen R, et al. Neurogenetics. 2013 Nov;14(3-4):243-5. doi: 10.1007/s10048-013-0367-8. Epub 2013 Jul 23. Neurogenetics. 2013. PMID: 23877401

3

Genomic analysis of primordial dwarfism reveals novel disease genes.

Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS. Shaheen R, et al. Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3. Genome Res. 2014. PMID: 24389050 Free PMC article.

4

Variable phenotypic expression of COG6 mutations.

Alkuraya FS, Shaheen R. Alkuraya FS, et al. Among authors: shaheen r. J Med Genet. 2014 Jun;51(6):425-6. doi: 10.1136/jmedgenet-2014-102388. Epub 2014 Mar 25. J Med Genet. 2014. PMID: 24667118 No abstract available.

5

Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI).

Al-Qattan MM, Shaheen R, Alkuraya FS. Al-Qattan MM, et al. Among authors: shaheen r. Am J Med Genet A. 2017 Sep;173(9):2439-2441. doi: 10.1002/ajmg.a.38336. Epub 2017 Jun 20. Am J Med Genet A. 2017. PMID: 28631893

6

Reply to "an extremely severe phenotype due to WDR81 nonsense mutations".

Shaheen R, Alkuraya FS. Shaheen R, et al. Ann Neurol. 2017 Oct;82(4):651. doi: 10.1002/ana.25056. Epub 2017 Oct 10. Ann Neurol. 2017. PMID: 28961333 No abstract available.

7

Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.

Shamseldin HE, Maddirevula S, Faqeih E, Ibrahim N, Hashem M, Shaheen R, Alkuraya FS. Shamseldin HE, et al. Among authors: shaheen r. Genet Med. 2017 May;19(5):593-598. doi: 10.1038/gim.2016.155. Epub 2016 Oct 6. Genet Med. 2017. PMID: 27711071 Free article.

8

Vanishing white matter disease caused by EIF2B2 mutation with the presentation of an adrenoleukodystrophy phenotype.

Alsalem A, Shaheen R, Alkuraya FS. Alsalem A, et al. Among authors: shaheen r. Gene. 2012 Apr 1;496(2):141-3. doi: 10.1016/j.gene.2011.12.047. Epub 2012 Jan 17. Gene. 2012. PMID: 22285377

9

The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.

Khan AO, Shaheen R, Alkuraya FS. Khan AO, et al. Among authors: shaheen r. J AAPOS. 2014 Aug;18(4):362-7. doi: 10.1016/j.jaapos.2014.03.005. J AAPOS. 2014. PMID: 25173900

10

Novel CENPJ mutation causes Seckel syndrome.

Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. Al-Dosari MS, et al. Among authors: shaheen r. J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646. J Med Genet. 2010. PMID: 20522431

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