Solving Medical Mysteries
Through Team Science


The Undiagnosed Diseases Program: Approach to Diagnosis

April 13, 2020

Translational Science of Rare Diseases

Dominant-negative Mutations in Human IL6ST Underlie hyper-IgE Syndrome

March 24, 2020

Journal of Experimental Medicine

Limitations of Exome Sequencing in Detecting Rare and Undiagnosed Diseases

March 19, 2020

American Journal of Medical Genetics, Part A

Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

September 15, 2018

Annals of Clinical and Translational Neurology

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

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3

January 5, 2017

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