Saeed Al Turki
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 12 publications
AI-derived comparative assessment of the performance of pathogenicity prediction tools on missense variants of breast cancer genes.
Journal: Human genomics
Published: March 18, 2024
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
Journal: Science (New York, N.Y.)
Published: June 22, 2020
Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans.
Journal: American journal of human genetics
Published: March 03, 2016
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.
Journal: Brain : a journal of neurology
Published: December 05, 2014
Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 25, 2014
Using population data for assessing next-generation sequencing performance.
Journal: Bioinformatics (Oxford, England)
Published: September 20, 2014
High throughput exome coverage of clinically relevant cardiac genes.
Journal: BMC medical genomics
Published: August 12, 2014
Rare variants in NR2F2 cause congenital heart defects in humans.
Journal: American journal of human genetics
Published: October 24, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease.
Journal: Human mutation
Published: July 05, 2012
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
Journal: American journal of human genetics
Published: March 19, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026