UDN

Solving Medical Mysteries
Through Team Science

Publications

Phenotypic heterogeneity of ZMPSTE24 deficiency

January 17, 2018

American Journal of Medical Genetics, Part A


The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease

February 2, 2017

The American Journal of Human Genetics


A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

January 5, 2017

The American Journal of Human Genetics


The Undiagnosed Diseases Network of the National Institutes of Health: A National Extension

November 3, 2015

The Journal of the American Medical Association