Muddathir H. Hamad

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 · 309 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 283 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen, Sateesh Maddirevula, Nour Ewida et al. · Genetics in Medicine · 2018 · 124 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb et al. · Genetics in Medicine · 2018 · 72 citations · Full text

Medicine, Developmental Biology, Genetics +12

Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases

Elena Perenthaler, Anita Nikoncuk, Soheil Yousefi et al. · Acta Neuropathologica · 2019 · 71 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17