Jing You

IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease

J. Lupski, S. Jhangiani, D. Valle, 2021, Human Genetics.

A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.

Stephanie E. Vallee, D. Valle, S. Szelinger, 2016, American journal of human genetics.

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants in HNRNPK

D. Valle, N. Sobreira, J. Majewski, 2015, Human mutation.