Maha Alotaibi

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

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed et al. · Human Genetics · 2017 · 296 citations · Full text

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

Dorota Monies, Mohammed Abouelhoda, Mirna Assoum et al. · The American Journal of Human Genetics · 2019 · 276 citations · Full text

Sequencing, Next-generation Sequencing, Genetics +8

Autozygome and high throughput confirmation of disease genes candidacy

Sateesh Maddirevula, Fatema Alzahrani, Mohammed Al‐Owain et al. · Genetics in Medicine · 2018 · 112 citations · Full text

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

Mohamed H. Al‐Hamed, Nada Alsahan, Sarah J. Rice et al. · Pediatric Nephrology · 2019 · 31 citations

Mendelian Disorder, Genetic Disorder, Medicine +11

Expanding the phenotype of <i>SLC25A42</i>‐associated mitochondrial encephalomyopathy

Mohammed Almannai, Ali Alasmari, Amal Alqasmi et al. · Clinical Genetics · 2018 · 28 citations

Genetics, Pathology, Molecular Genetics +19