Publications by authors named "Hessa S Alsaif"

19Publications

Further delineation of HIDEA syndrome.

Am J Med Genet A 2020 Sep 23. Epub 2020 Sep 23.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.61885DOI Listing
September 2020

DALRD3 encodes a protein mutated in epileptic encephalopathy that targets arginine tRNAs for 3-methylcytosine modification.

Nat Commun 2020 05 19;11(1):2510. Epub 2020 May 19.

Department of Biology, Center for RNA Biology, University of Rochester, Rochester, NY, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-020-16321-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7237682PMC
May 2020

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Am J Hum Genet 2019 11 17;105(5):1016-1022. Epub 2019 Oct 17.

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:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297193036
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2019.09.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6848991PMC
November 2019

A de novo mutation in FMR1 in a patient with intellectual disability.

Eur J Med Genet 2020 Mar 10;63(3):103763. Epub 2019 Sep 10.

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. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2019.103763DOI Listing
March 2020

Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.

Am J Hum Genet 2018 12;103(6):948-967

Section of Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; NIH Undiagnosed Diseases Program, NHGRI and the Common Fund, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2018.11.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288279PMC
December 2018

Congenital glaucoma and CYP1B1: an old story revisited.

Hum Genet 2019 Sep 19;138(8-9):1043-1049. Epub 2018 Mar 19.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00439-018-1878-zDOI Listing
September 2019

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2.

Am J Hum Genet 2017 Oct 28;101(4):603-608. Epub 2017 Sep 28.

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; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00029297173033
Publisher Site
http://dx.doi.org/10.1016/j.ajhg.2017.08.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5630161PMC
October 2017