Clinical and Genetic Evaluation of Individuals with Undiagnosed Disorders through the Undiagnosed Diseases Network (UDN)

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease

Kimberly Splinter, D. Adams, C. Bacino, et al.. (2018). The New England Journal of Medicine. Cited 322 times. https://doi.org/10.1056/NEJMoa1714458

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

L. Frésard, Craig Smail, N. Ferraro, et al.. (2019). Nature medicine. Cited 264 times. https://doi.org/10.1038/s41591-019-0457-8

Diagnostic utility of transcriptome sequencing for rare Mendelian diseases

Hane Lee, Alden Huang, Lee-Kai Wang, et al.. (2019). Genetics in Medicine. Cited 200 times. https://doi.org/10.1038/s41436-019-0672-1

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing.

David R. Murdock, Hongzheng Dai, L. Burrage, et al.. (2020). The Journal of clinical investigation. Cited 127 times. https://doi.org/10.1172/JCI141500

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, R. Dawes, Hyung Chul Kim, et al.. (2024). Nature. Cited 76 times. https://doi.org/10.1038/s41586-024-07773-7

Exome/Genome Sequencing in Undiagnosed Syndromes

J. Sullivan, K. Schoch, Rebecca C. Spillmann, et al.. (2023). Annual review of medicine. Cited 40 times. https://doi.org/10.1146/annurev-med-042921-110721

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

K. Schoch, Cecilia Esteves, A. Bican, et al.. (2020). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 31 times. https://doi.org/10.1038/s41436-020-00984-z

Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network

H. Cope, Rebecca C. Spillmann, J. Rosenfeld, et al.. (2020). Molecular Genetics & Genomic Medicine. Cited 17 times. https://doi.org/10.1002/mgg3.1397

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

J. M. Harnish, Lucian Li, S. Rogic, et al.. (2021). bioRxiv. Cited 11 times. https://doi.org/10.1002/humu.24364

Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.

Jenna Pucel, Lauren C Briere, C. Reuter, et al.. (2024). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 6 times. https://doi.org/10.1016/j.gim.2024.101115

Patients as Partners in Rare Disease Diagnosis and Research

A. McCray, Kimberly Leblanc. (2021). The Yale Journal of Biology and Medicine. Cited 6 times.

A concurrent dual analysis of genomic data augments diagnoses: experiences of two clinical sites in the Undiagnosed Diseases Network.

Rebecca C. Spillmann, Q. Tan, C. Reuter, et al.. (2022). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 1 times. https://doi.org/10.1016/j.gim.2022.12.001