Ee‐Shien Tan

Germline AGO2 mutations impair RNA interference and human neurological development

Davor Lessel, Daniela M. Zeitler, Margot R.F. Reijnders et al. · Nature Communications · 2020 · 97 citations · Full text

ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects

Kosuke Izumi, Maggie Brett, Eriko Nishi et al. · The American Journal of Human Genetics · 2016 · 83 citations · Full text

Developmental Biology, Mendelian Disorder, Genetic Disorder +6

Amelioration of oxidative stress in red blood cells from patients with β‐thalassemia major and intermedia and E‐β‐thalassemia following administration of a fermented papaya preparation

Eitan Fibach, Ee‐Shien Tan, Saumya Shekhar Jamuar et al. · Phytotherapy Research · 2010 · 41 citations

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Eileen C.P. Lim, Maggie Brett, Angeline Lai et al. · Human Genomics · 2015 · 30 citations · Full text

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders

Chui-Sun Yap, Saumya Shekhar Jamuar, Angeline Lai et al. · Gene · 2020 · 15 citations

Mendelian Disorder, Genetic Disorder, Medicine +10