Shams Anazi
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 13 publications
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Journal: Clinical genetics
Published: June 26, 2018
Correction to: Expanding the genetic heterogeneity of intellectual disability.
Journal: Human genetics
Published: December 31, 2017
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Journal: Brain : a journal of neurology
Published: December 25, 2017
Elsahy-Waters syndrome is caused by biallelic mutations in CDH11.
Journal: American journal of medical genetics. Part A
Published: November 01, 2017
Expanding the phenome and variome of skeletal dysplasia.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 19, 2017
Expanding the genetic heterogeneity of intellectual disability.
Journal: Human genetics
Published: July 10, 2017
GWAS signals revisited using human knockouts.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 23, 2016
A null mutation in TNIK defines a novel locus for intellectual disability.
Journal: Human genetics
Published: February 10, 2016
Mutations in SMG9, Encoding an Essential Component of Nonsense-Mediated Decay Machinery, Cause a Multiple Congenital Anomaly Syndrome in Humans and Mice.
Journal: American journal of human genetics
Published: October 27, 2015
Novel copy number variants and major limb reduction malformation: Report of three cases.
Journal: American journal of medical genetics. Part A
Published: September 16, 2015
A novel APC mutation defines a second locus for Cenani-Lenz syndrome.
Journal: Journal of medical genetics
Published: October 27, 2014
Last Updated: 09/26/2026