Associated Papers
Population-based, first-tier genomic newborn screening in the maternity ward.
Boemer F et al.
Nature Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Re-evaluation of single nucleotide variants and identification of structural variants in a cohort of 45 sudden unexplained death cases.
Neubauer J et al.
International Journal of Legal Medicine, 2021
33895855 (PubMed )
Supplement: 414_2021_2580_MOESM5_ESM.xlsx › Tabelle1
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T et al.
Nature Genetics, 2017
Mitochondrial fatty acid oxidation defects--remaining challenges.
Gregersen N et al.
Journal of Inherited Metabolic Disease, 2008
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
Pedersen CB et al.
Human Genetics, 2008
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