Associated Papers
Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.
Fioretti T et al.
Biomedicines, 2024
38791074 (PubMed )
Supplement: biomedicines-12-01112-s001.zip › biomedicines-2972903-SM_final › Supplementary_files › SUPPLEMENTARY_Table_S3.pdf
Identifying Novel Genes and Variants in Immune and Coagulation Pathways Associated with Macular Degeneration.
Huan T et al.
Ophthalmology Science, 2023
Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.
Zernant J et al.
Plos Genetics, 2022
35353811 (PubMed )
Supplement: pgen.1010129.s002.xlsx › Sheet1
Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4.
Yeboah GK et al.
Journal of Lipid Research, 2021
ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function.
Hopiavuori BR et al.
Progress in Retinal and Eye Research, 2019
Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations.
Deák F et al.
Frontiers in Cellular Neuroscience, 2019
Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients.
Bardak H et al.
Genetics and Molecular Research : Gmr, 2016
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.
Boisson B et al.
The Journal of Experimental Medicine, 2015
26008899 (PubMed )
Supplement: supp_jem.20141130_JEM_20141130_TableS2.xlsx › Sheet1
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A09R-01A.domain
Whole-exome sequencing reveals overlap between macrophage activation syndrome in systemic juvenile idiopathic arthritis and familial hemophagocytic lymphohistiocytosis.
Kaufman KM et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
Watson CM et al.
Plos One, 2014
25133751 (PubMed )
Supplement: pone.0104281.s001.pdf
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