Asma Sunker

发表

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

H. Khalak, F. Alkuraya, M. Al-Owain, 2011, Nature Genetics.

Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.

F. Alkuraya, M. Al-Dosari, M. Al-Owain, 2012, Gene.

A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

F. Alkuraya, E. Faqeih, R. Shaheen, 2011, Human mutation.

Identification of MRI1, encoding translation initiation factor eIF-2B subunit alpha/beta/delta-like protein, as a candidate locus for infantile epilepsy with severe cystic degeneration of the brain.

F. Alkuraya, Asma Sunker, 2013, Gene.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

F. Alkuraya, Y. Xiong, S. Anazi, 2015, Genetics in Medicine.

POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.

F. Alkuraya, S. Megason, E. Faqeih, 2012, American journal of human genetics.

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

F. Alkuraya, E. Faqeih, R. Shaheen, 2011, American journal of human genetics.

Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies

F. Alkuraya, Y. Xiong, S. Anazi, 2015, Genetics in Medicine.

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

F. Alkuraya, E. Faqeih, R. Shaheen, 2011, American journal of human genetics.