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Nature Genetics|March 5, 2021
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomicsMarc Jan Bonder, Craig Smail, Michael J Gloudemans, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 7, 2026
Biallelic LAMP3 Variants in Five Families with Interstitial Lung Disease: Evidence of a Disease-Gene AssociationLaura A Keehan, Hitomi Ono-Minagi, Mohamad Hadhud, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesMaggie T Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
The Journal of Experimental Medicine|May 23, 2024
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humansVictoria E Rael, Julian A Yano, John P Huizar, et al.
American Journal of Human Genetics|September 20, 2025
Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesTaylor M Arriaga, Rodrigo Mendez, Rachel A Ungar, et al.
Vaccines|February 26, 2026
Reaching Never- and Incompletely-Vaccinated Children with Routine Immunization: A Proof-of-Concept Activity Using Geo-Referenced Microplans in Two Health Zones in Maniema Province, Democratic Republic of the CongoMary M Alleman, Affaud Anais Tanon, Emmanuel Rukengwa, et al.
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.
American Journal of Medical Genetics. Part A|April 20, 2026
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and CounselingAnnie D Niehaus, Devon E Bonner, Jennefer Carter, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
JAMA Network Open|June 3, 2021
COVID-19 Case Investigation and Contact Tracing in the US, 2020R Ryan Lash, Patrick K Moonan, Brittany L Byers, et al.
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