Publications by authors named "Agaadir Almoisheer"

8Publications

Revisiting disease genes based on whole-exome sequencing in consanguineous populations.

Hum Genet 2015 Sep 4;134(9):1029-34. Epub 2015 Jul 4.

Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC-03, PO BOX 3354, Riyadh, 11211, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-015-1580-3DOI Listing
September 2015

Identification of a novel MKS locus defined by TMEM107 mutation.

Hum Mol Genet 2015 Sep 29;24(18):5211-8. Epub 2015 Jun 29.

Department of Genetics and Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddv242DOI Listing
September 2015

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

J Med Genet 2015 May 23;52(5):322-9. Epub 2015 Feb 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2015-102992DOI Listing
May 2015

A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.

Hum Mol Genet 2015 Mar 30;24(5):1410-9. Epub 2014 Oct 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia

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http://dx.doi.org/10.1093/hmg/ddu555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4321448PMC
March 2015

Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.

J Med Genet 2014 Dec 15;51(12):814-6. Epub 2014 Oct 15.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1136/jmedgenet-2014-102790DOI Listing
December 2014

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

Am J Hum Genet 2014 Jun 15;94(6):898-904. Epub 2014 May 15.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4121479PMC
June 2014