Suneeta Madan-Khetarpal

发表

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

J. Graham, M. Tagliati, T. Pierson, 2017, Journal of Human Genetics.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low‐copy repeats

Stephanie E. Vallee, J. Rosenfeld, L. Shaffer, 2012, Human mutation.

Latent transforming growth factor binding protein 4 regulates transforming growth factor beta receptor stability.

Jenq-Wen Huang, B. Dabovic, C. Chiang, 2015, Human molecular genetics.

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

J. Rosenfeld, L. Shaffer, M. Scott, 2011, American journal of human genetics.