Almundher Al‐Maawali

Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny et al. · The American Journal of Human Genetics · 2015 · 80 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits

Maryam Al‐Nabhani, Samiya Al‐Rashdi, Fathiya Al Murshedi et al. · Clinical Genetics · 2018 · 72 citations

Life Sciences, Bioinformatics, Genetics +17

Novel loss‐of‐function variants in <i>DIAPH1</i> associated with syndromic microcephaly, blindness, and early onset seizures

Almundher Al‐Maawali, Brenda J. Barry, Anna Rajab et al. · American Journal of Medical Genetics Part A · 2015 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Martin Broly, Bogdan Polevoda, Kamel Awayda et al. · The American Journal of Human Genetics · 2022 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Diagnostic Approach to Childhood-Onset Cerebellar Atrophy

Almundher Al‐Maawali, Susan Blasér, Grace Yoon · Journal of Child Neurology · 2012 · 44 citations

Medicine, Neurology, Pediatrics +17