Associated Papers
Exclusion-based exome sequencing in critically ill adults 18-40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
Gold JI et al.
American Journal of Human Genetics, 2025
40628270 (PubMed )
Supplement: mmc2.xlsx › Table_S1
Universal Exome Sequencing in Critically Ill Adults: A Diagnostic Yield of 25% and Race-Based Disparities in Access to Genetic Testing.
Gold J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
38559092 (PubMed )
Supplement: media-1.xlsx › MICUSeq.Data.Filtered.Clean_Spl
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Živná M et al.
Kidney International, 2020
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch M et al.
Nature Communications, 2018
30262806 (PubMed )
Supplement: 41467_2018_6485_MOESM9_ESM.xlsx › 6B.EXONIC_INDEL_VALIDATION
Renal tubular dysgenesis: antenatal ultrasound scanning and molecular investigations in a Saudi Arabian family.
Al-Hamed MH et al.
Clinical Kidney Journal, 2016
Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure.
Zivná M et al.
American Journal of Human Genetics, 2009
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