UDN

Solving Medical Mysteries
Through Team Science

Publications

IRF2BPL Is Associated with Neurological Phenotypes

July 26, 2018

American Journal of Human Genetics


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