Shaheen R - Search Results

1

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Among authors: shaheen r. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.

2

Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome.

Shaheen R, Faqeih E, Sunker A, Morsy H, Al-Sheddi T, Shamseldin HE, Adly N, Hashem M, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2011 Aug 12;89(2):328-33. doi: 10.1016/j.ajhg.2011.07.009. Epub 2011 Aug 4. Am J Hum Genet. 2011. PMID: 21820096 Free PMC article.

3

Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

Shaheen R, Aglan M, Keppler-Noreuil K, Faqeih E, Ansari S, Horton K, Ashour A, Zaki MS, Al-Zahrani F, Cueto-González AM, Abdel-Salam G, Temtamy S, Alkuraya FS. Shaheen R, et al. Am J Hum Genet. 2013 Apr 4;92(4):598-604. doi: 10.1016/j.ajhg.2013.02.012. Epub 2013 Mar 21. Am J Hum Genet. 2013. PMID: 23522784 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

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.

6

T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS. Shaheen R, et al. Hum Genet. 2015 Oct;134(10):1139-41. doi: 10.1007/s00439-015-1589-7. Epub 2015 Jul 26. Hum Genet. 2015. PMID: 26210634 No abstract available.

7

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition.

Shaheen R, Han L, Faqeih E, Ewida N, Alobeid E, Phizicky EM, Alkuraya FS. Shaheen R, et al. Hum Genet. 2016 Jul;135(7):707-13. doi: 10.1007/s00439-016-1665-7. Epub 2016 Apr 7. Hum Genet. 2016. PMID: 27055666 Free PMC article.

8

Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.

Shaheen R, Hashem A, Abdel-Salam GM, Al-Fadhli F, Ewida N, Alkuraya FS. Shaheen R, et al. Hum Genet. 2016 Oct;135(10):1191-7. doi: 10.1007/s00439-016-1722-2. Epub 2016 Aug 8. Hum Genet. 2016. PMID: 27503289

9

Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.

Tabarki B, AlMajhad N, AlHashem A, Shaheen R, Alkuraya FS. Tabarki B, et al. Among authors: shaheen r. Hum Genet. 2016 Nov;135(11):1295-1298. doi: 10.1007/s00439-016-1726-y. Epub 2016 Aug 27. Hum Genet. 2016. PMID: 27567911

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

228 results

Search Page