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European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Circulation|June 21, 2019
Genomics-First Evaluation of Heart Disease Associated With Titin-Truncating VariantsChristopher M Haggerty, Scott M Damrauer, Michael G Levin, et al.
Critical Care (London, England)|March 17, 2021
Expert consensus statements for the management of COVID-19-related acute respiratory failure using a Delphi methodPrashant Nasa, Elie Azoulay, Ashish K Khanna, et al.
Nature Communications|August 6, 2024
Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinementChristy W LaFlamme, Cassandra Rastin, Soham Sengupta, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2023
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a changeHeidi L Rehm, Joseph T Alaimo, Swaroop Aradhya, et al.
The New England Journal of Medicine|November 20, 2024
Antibiotic Treatment for 7 versus 14 Days in Patients with Bloodstream Infections, Nick Daneman, Asgar Rishu, et al.
American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.
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