Associated Papers
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
36180924 (PubMed )
Supplement: 13073_2022_1113_MOESM1_ESM.xlsx › Table_S7
Clinical Utility of Genetic Testing in the Precision Diagnosis and Management of Pediatric Patients with Kidney and Urinary Tract Diseases.
Bekheirnia N et al.
Kidney360, 2021
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32424177 (PubMed )
Supplement: 1-s2.0-S1098360021006924-mmc1.xlsx › TS1._New_cohort_sequencing
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
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