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HGG Advances|March 11, 2026
Biallelic Variants in RNU6ATAC Result in a Minor Spliceopathy Characterized by Transcriptome-Wide Minor Intron Retention Events and Short Stature with Variable Multisystem ManifestationsRodrigo Mendez, Taylor M Arriaga, Jialan Ma, et al.
Autonomic Neuroscience : Basic & Clinical|May 27, 2025
'Transient immediate orthostatic hypotension' is preferable to 'initial' orthostatic hypotensionDavid G Benditt, Artur Fedorowski, Richard Sutton, et al.
Biorxiv : the Preprint Server for Biology|November 21, 2023
Transcriptomics and chromatin accessibility in multiple African population samplesMarianne K DeGorter, Page C Goddard, Emre Karakoc, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2024
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorderJennefer N Kohler, Nicole R Legro, Dustin Baldridge, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
High Blood Pressure & Cardiovascular Prevention : the Official Journal of the Italian Society of Hypertension|March 12, 2020
Hyperuricemia and Risk of Cardiovascular Outcomes: The Experience of the URRAH (Uric Acid Right for Heart Health) ProjectAlessandro Maloberti, C Giannattasio, M Bombelli, et al.
Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.
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