Jing You

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

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

Exome sequencing identifies a de novo frameshift mutation in the imprinted gene ZDBF2 in a sporadic patient with Nasopalpebral Lipoma‐coloboma syndrome

N. Sobreira, J. Zenteno, R. Piña-Aguilar, 2016, American journal of medical genetics. Part A.

An anadysplasia‐like, spontaneously remitting spondylometaphyseal dysplasia secondary to lamin B receptor (LBR) gene mutations: Further definition of the phenotypic heterogeneity of LBR‐bone dysplasias

D. Valle, R. Pauli, N. Sobreira, 2015, American journal of medical genetics. Part A.

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.

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.

γ-Secretase Mutation in an African American Family With Hidradenitis Suppurativa.

N. Sobreira, P. Mattei, Sean Chen, 2015, JAMA dermatology.