Associated Papers
A case report of neonatal incontinentia pigmenti complicated by severe cerebrovascular lesions in one of the male monozygotic twins.
Lin X et al.
Frontiers in Pediatrics, 2024
38832002 (PubMed )
Supplement: Table1.xlsx › filter_variants
Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.
Haarman AEG et al.
Ophthalmology Science, 2023
37250922 (PubMed )
Supplement: mmc6.pdf
Structure and Function of the ABCD1 Variant Database: 20 Years, 940 Pathogenic Variants, and 3400 Cases of Adrenoleukodystrophy.
Mallack EJ et al.
Cells, 2022
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Identification of Two Novel Mutations of ABCD1 Gene in Pedigrees with X-Linked Adrenoleukodystrophy and Review of the Literature.
Dong B et al.
International Journal of Endocrinology, 2022
Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.
Liu X et al.
Frontiers in Genetics, 2022
36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1
Rapid progression of an IDH-wild type histological low-grade glioma harbouring TERT promoter mutation and diffuse CD34 expression: a case report.
Wang H et al.
Folia Neuropathologica, 2021
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.
Wiesinger C et al.
The Application of Clinical Genetics, 2015
How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.
Middha S et al.
Frontiers in Genetics, 2015
26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2
Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.
Lupski JR et al.
Genome Medicine, 2013
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
Dvoráková L et al.
Human Mutation, 2001
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