Nabil N. Moghrabi

Riyadh, Saudi Arabia

Last Updated: 09/26/2026

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Found 13 publications

Building genomic medicine in Saudi Arabia.

Building genomic medicine in Saudi Arabia.

Journal: Nature genetics

Published: February 10, 2026

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Detection of Chromosomal Aneuploidy Using Exome Sequencing.

Journal: Genes

Published: June 11, 2025

Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.

Cystic fibrosis gene mutations and polymorphisms in Saudi men with infertility.

Journal: Annals of Saudi medicine

Published: August 08, 2020

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Journal: Annals of Saudi medicine

Published: February 07, 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

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.

Journal: International journal of pediatrics & adolescent medicine

Published: August 01, 2019

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Journal: Human mutation

Published: March 27, 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

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Journal: Molecular genetics and metabolism reports

Published: November 11, 2018

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.

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

Published: December 12, 2017

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Journal: Human genetics

Published: May 30, 2017

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

The first case report of double homozygous of 2 different mutations in the CFTR gene in Saudi Arabia.

Journal: International journal of pediatrics & adolescent medicine

Published: May 10, 2016

Showing 1-12 of 13

Last Updated: 09/26/2026