[HTML][HTML] Equity in action: The Diagnostic Working Group of The Undiagnosed Diseases Network International

EE Palmer, H Cederroth, M Cederroth… - NPJ Genomic …, 2024 - nature.com
Rare diseases are recognized as a global public health priority. A timely and accurate
diagnosis is a critical enabler for precise and personalized health care. However, barriers to …

Diagnostic yield and clinical utility of whole-exome sequencing in pediatric patients with rare and undiagnosed diseases: a prospective, single-center study from the …

O Slaby, K Slaba, P Pokorna, R Jugas, H Palova… - 2024 - researchsquare.com
Background: In the last decade, undiagnosed disease programs have emerged to address
the significant number of individuals with suspected but undiagnosed rare genetic diseases …