Saud Alsahli

Expanding the genetic heterogeneity of intellectual disability

Shams Anazi, Sateesh Maddirevula, Vincenzo Salpietro et al. · Human Genetics · 2017 · 173 citations

Intellectual Impairment, Genetics, Disability +6

Genomic and phenotypic delineation of congenital microcephaly

Ranad Shaheen, Sateesh Maddirevula, Nour Ewida et al. · Genetics in Medicine · 2018 · 120 citations · Full text

Developmental Anomaly, Developmental Biology, Brain Development +7

Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development

Michael S. Nahorski, Sateesh Maddirevula, Ryosuke Ishimura et al. · Brain · 2018 · 112 citations · Full text

Biallelic Ufm1, Brain Development, Genetics +17

A multicenter clinical exome study in unselected cohorts from a consanguineous population of Saudi Arabia demonstrated a high diagnostic yield

Ahmed Alfares, Majid Alfadhel, Tariq Ahmad Wani et al. · Molecular Genetics and Metabolism · 2017 · 90 citations

High Diagnostic Yield, Consanguineous Population, Saudi Arabia +10

Expanding the phenome and variome of skeletal dysplasia

Sateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb et al. · Genetics in Medicine · 2018 · 69 citations · Full text

Developmental Biology, Bone Morphogenic Protein, Distraction Osteogenesis +7