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American Journal of Medical Genetics. Part A|June 19, 2021
Homozygous WNT9B variants in two families with bilateral renal agenesis/hypoplasia/dysplasiaGabrielle Lemire, Bixia Zheng, Grace U Ediae, et al.
Cell|December 13, 2024
Regulation of human interferon signaling by transposon exonizationGiulia Irene Maria Pasquesi, Holly Allen, Atma Ivancevic, et al.
Clinical Genetics|June 23, 2025
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort StudyAlexanne Cuillerier, Andrea Goodman, Chloe Lawrence, et al.
Biorxiv : the Preprint Server for Biology|September 25, 2023
Regulation of human interferon signaling by transposon exonizationGiulia Irene Maria Pasquesi, Holly Allen, Atma Ivancevic, et al.
American Journal of Perinatology|August 1, 2019
Team Stress and Adverse Events during Neonatal Tracheal Intubations: A Report from NEAR4NEOSRachel A Umoren, Taylor L Sawyer, Anne Ades, et al.
Healthcare (Amsterdam, Netherlands)|October 4, 2020
The Longitudinal Epidemiologic Assessment of Diabetes Risk (LEADR): Unique 1.4 M patient Electronic Health Record cohortHoward A Fishbein, Rebecca Jeffries Birch, Sunitha M Mathew, et al.
Elife|December 25, 2015
Filovirus receptor NPC1 contributes to species-specific patterns of ebolavirus susceptibility in batsMelinda Ng, Esther Ndungo, Maria E Kaczmarek, et al.
BMJ Open|August 10, 2025
TRIAGE-GS: protocol for a randomised controlled trial of a genomics-first approach to rare disease diagnosis for patients awaiting assessment by a clinical geneticistKaitlin J Stanley, Caitlin Chisholm, Meredith K Gillespie, et al.
Cell Reports|June 13, 2019
TRIM5α Restricts Flavivirus Replication by Targeting the Viral Protease for Proteasomal DegradationAbhilash I Chiramel, Nicholas R Meyerson, Kristin L McNally, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
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