Angeline Lai

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

Ghayda Mirzaa, Andrew E. Timms, Valerio Conti et al. · JCI Insight · 2016 · 182 citations · Full text

Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake et al. · The American Journal of Human Genetics · 2013 · 135 citations · Full text

Mendelian Disorder, Connective Tissue Disorders, Genetic Disorder +9

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Kieran J. Bunn, Phil Daniel, Heleen S. Rösken et al. · The American Journal of Human Genetics · 2015 · 83 citations · Full text

Genetic Disorder, Genetics, Pathology +2

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis

Lucie Gueneau, Richard J. Fish, Hanan E. Shamseldin et al. · The American Journal of Human Genetics · 2017 · 58 citations · Full text