Associated Papers
Spectrum of genetic variants associated with maple syrup urine disease in the Middle East, North Africa, and Türkiye (MENAT): a systematic review.
Younes S et al.
Bmc Medical Genomics, 2025
A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.
Rezaie N et al.
Molecular Biology Research Communications, 2024
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X et al.
Scientific Reports, 2021
34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH et al.
World Journal of Pediatrics : Wjp, 2020
[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Sun WH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Maple syrup urine disease mutation spectrum in a cohort of 40 consanguineous patients and insilico analysis of novel mutations.
Abiri M et al.
Metabolic Brain Disease, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM3_ESM.pdf
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1
Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.
Castro-Vega LJ et al.
Nature Communications, 2015
25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2
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
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