Associated Papers
Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.
Kaplanis J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
40684348 (PubMed )
Supplement: mmc6.xlsx › mmc6
Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.
Kapur P et al.
Jci Insight, 2024
38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
ClinVar and HGMD genomic variant classification accuracy has improved over time, as measured by implied disease burden.
Sharo AG et al.
Genome Medicine, 2023
37443081 (PubMed )
Supplement: 13073_2023_1199_MOESM7_ESM.xlsx › HGMD
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
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