Hessa S. Alsaif

Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield

Shams Anazi, Sateesh Maddirevula, Eissa Faqeih et al. · Molecular Psychiatry · 2016 · 254 citations

Intellectual Impairment, Medicine, Genetics +6

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

Jack J. Collier, Claire Guissart, Monika Oláhová et al. · New England Journal of Medicine · 2021 · 185 citations · Full text

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

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

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

John J. Reynolds, Louise S. Bicknell, Paula Carroll et al. · Nature Genetics · 2017 · 109 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +8