Amira Nabil

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

On the phenotypic spectrum of serine biosynthesis defects

Ayman W. El‐Hattab, Ranad Shaheen, Jozef Hertecant et al. · Journal of Inherited Metabolic Disease · 2016 · 53 citations

Life Sciences, Biochemistry, Molecular Biology +12

Genetic investigation of 93 families with microphthalmia or posterior microphthalmos

Nisha Patel, Arif O. Khan, Saud Alsahli et al. · Clinical Genetics · 2018 · 51 citations

Life Sciences, Genetics, Molecular Genetics +17

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families

Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin et al. · Nature Communications · 2023 · 41 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

Nicolas Chatron, Felicitas Becker, Heba Morsy et al. · Brain · 2020 · 31 citations · Full text

Life Sciences, Genetics, Neuroscience +17