Wee Teik Keng

Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency

Louis‐Daniel Brun, Lock Hock Ngu, Wee Teik Keng et al. · Neurology · 2010 · 225 citations

Medicine, Neurology, Neuroscience +17

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome

Kathleen A. Williamson, Ann Hever, Joe Rainger et al. · Human Molecular Genetics · 2006 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

FAT1 mutations cause a glomerulotubular nephropathy

Heon Yung Gee, Carolin E. Sadowski, Pardeep Aggarwal et al. · Nature Communications · 2016 · 132 citations · Full text

Medicine, Genetics, Nephrology +17

Effective monosomy or trisomy of chromosome band 2q37.3 due to the unbalanced segregation of a 2;11 translocation

Paul Batstone, Sheila A Simpson, David T. Bonthron et al. · American Journal of Medical Genetics Part A · 2003 · 85 citations

Life Sciences, Genetics, Molecular Genetics +16

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