Ewa A. Goljan

Riyadh, 11211, Saudi Arabia

Last Updated: 09/26/2026

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Found 18 publications

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

Large-scale next generation sequencing based analysis of SLCO1B1 pharmacogenetics variants in the Saudi population.

Journal: Human genomics

Published: October 12, 2023

The clinical utility of rapid exome sequencing in a consanguineous population.

The clinical utility of rapid exome sequencing in a consanguineous population.

Journal: Genome medicine

Published: November 04, 2022

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population.

Journal: PloS one

Published: July 09, 2021

Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel.

Genetic Alterations in Pediatric Thyroid Cancer Using a Comprehensive Childhood Cancer Gene Panel.

Journal: The Journal of clinical endocrinology and metabolism

Published: June 12, 2020

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.

Journal: Brain : a journal of neurology

Published: April 27, 2020

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: October 05, 2019

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Journal: American journal of human genetics

Published: December 19, 2018

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Integrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's Disease.

Journal: Scientific reports

Published: August 10, 2018

Autozygome and high throughput confirmation of disease genes candidacy.

Autozygome and high throughput confirmation of disease genes candidacy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 16, 2018

Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Corrigendum: Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: January 05, 2018

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Journal: Human genomics

Published: December 10, 2017

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.

Journal: Human genomics

Published: August 30, 2017

Showing 1-12 of 18

Last Updated: 09/26/2026