Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS04_het
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP et al.
American Journal of Medical Genetics. Part A, 2024
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Yuan B et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Peng Y et al.
Human Molecular Genetics, 2017
29040572 (PubMed )
Supplement: ddx377_supplementary_data_09282017.pdf
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