Associated Papers
Integrating rapid exome sequencing into NICU clinical care after a pilot research study.
D'Gama AM et al.
Npj Genomic Medicine, 2022
36064943 (PubMed )
Supplement: 41525_2022_326_MOESM1_ESM.xlsx › Sheet1
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Biallelic P4HTM variants associated with HIDEA syndrome and mitochondrial respiratory chain complex I deficiency.
Hay E et al.
European Journal of Human Genetics : Ejhg, 2021
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