Faroug Ababneh

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 14 publications

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

High Throughput Evidence Generation to Support Tentative Gene Disease Relationship from A Cohort Enriched for Autozygosity and Founder Effect.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 24, 2025

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

Journal: Brain communications
Published: January 13, 2025

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Consanguinity and Occurrence of Monogenic Diseases in a Single Tertiary Centre in Riyadh, Saudi Arabia: A 2 Years Cross-Sectional Study.

Journal: The application of clinical genetics
Published: April 30, 2024

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 18, 2023

A founder DBR1 variant causes a lethal form of congenital ichthyosis.

A founder DBR1 variant causes a lethal form of congenital ichthyosis.

Journal: Human genetics
Published: April 06, 2023

Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features.

Chromosome 2 Interstitial Deletion (del(2)(q14.1q22.1) Syndrome With Novel Skeletal and Central Nervous System Features.

Journal: Cureus
Published: January 10, 2023

Factitious Hypoglycemia in an Infant With Undetectable Exogenous Insulin by a Commercial Insulin Immunoassay: A Diagnostic Pitfall.

Factitious Hypoglycemia in an Infant With Undetectable Exogenous Insulin by a Commercial Insulin Immunoassay: A Diagnostic Pitfall.

Journal: Cureus
Published: December 24, 2022

Common disease-associated gene variants in a Saudi Arabian population.

Common disease-associated gene variants in a Saudi Arabian population.

Journal: Annals of Saudi medicine
Published: February 03, 2022

The variant artificial intelligence easy scoring (VARIES) system.

The variant artificial intelligence easy scoring (VARIES) system.

Journal: Computers in biology and medicine
Published: October 07, 2021

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.

The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia.

Journal: Molecular genetics and metabolism reports
Published: September 13, 2021

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.

Journal: Orphanet journal of rare diseases
Published: May 27, 2021

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.

Journal: Frontiers in pediatrics
Published: November 25, 2020
Showing 1-12 of 14

Last Updated: 09/26/2026