Nur Ain Ali

Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis

Ricardo Moreno Traspas, Tze Shin Teoh, Pui‐Mun Wong et al. · Nature Genetics · 2022 · 28 citations · Full text

Medicine, Molecular Biology, Pediatrics +12

Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy

Hui Hui Wong, Sze Hwee Seet, Michael Maier et al. · The American Journal of Human Genetics · 2021 · 23 citations · Full text

Life Sciences, Cell Biology, Genetics +14

Heterozygous missense variant in <scp><i>EIF6</i></scp> gene: A novel form of <scp>Shwachman–Diamond</scp> syndrome?

Ai Ling Koh, Carine Bonnard, Jiin Ying Lim et al. · American Journal of Medical Genetics Part A · 2020 · 11 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14