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Joint, multifaceted genomic analysis enables diagnosis of diverse, ultra-rare monogenic presentations.
bioRxiv [Preprint]. 2024 Feb 16:2024.02.13.580158. doi: 10.1101/2024.02.13.580158.
bioRxiv. 2024.
PMID: 38405764
Free PMC article.
Preprint.
Phenotypic overlap between rare disease patients and variant carriers in a large population cohort informs biological mechanisms.
Fitzsimmons L; Undiagnosed Diseases Network; Beaulieu-Jones B, Kobren SN.
Fitzsimmons L, et al.
medRxiv [Preprint]. 2024 Apr 19:2024.04.18.24305861. doi: 10.1101/2024.04.18.24305861.
medRxiv. 2024.
PMID: 38699301
Free PMC article.
Preprint.
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