Associated Papers
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10
Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.
Orlic-Milacic M et al.
Database : the Journal of Biological Databases and Curation, 2024
38713862 (PubMed )
Supplement: baae031_supp.zip › suppl_data › Database_Orlic_Milacic_Reactome_of_Disease_Variants_SupplementaryTable1.docx
Preimplantation genetic testing for monogenic disorders (PGT-M) offers an alternative strategy to prevent children from being born with hereditary neurological diseases or metabolic diseases dominated by nervous system phenotypes: a retrospective study.
Zou W et al.
Journal of Assisted Reproduction and Genetics, 2024
A novel ABCD1 G1202A mutation in a Chinese patient with pure adrenomyeloneuropathy and literature review.
Zhang Y et al.
Genes & Diseases, 2021
Metabolic rerouting via SCD1 induction impacts X-linked adrenoleukodystrophy.
Raas Q et al.
The Journal of Clinical Investigation, 2021
Understanding the role of OXPHOS dysfunction in the pathogenesis of ECHS1 deficiency.
Burgin HJ et al.
Febs Letters, 2020
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
van de Beek MC et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017
Oligosymptomatic adrenomyeloneuropathy due to a novel mutation in the ABCD1 start codon.
Dunkl V et al.
Journal of the Neurological Sciences, 2016
Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.
Schackmann MJ et al.
Molecular Genetics and Metabolism, 2016
The effect of ABCB1 polymorphisms on the outcome of breast cancer treatment.
Tulsyan S et al.
Pharmacogenomics and Personalized Medicine, 2016
X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy.
Engelen M et al.
Journal of the Peripheral Nervous System : Jpns, 2011
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