Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
40542290 (PubMed )
Supplement: 10072_2025_8286_MOESM1_ESM.xlsx › T_M_HASTALAR
Expanding OBSL1 Mutation Phenotype: Disproportionate Short Stature, Barrel Chest, Thoracic Kyphoscoliosis, Hypogonadism, and Hypospadias.
Koprulu M et al.
The Yale Journal of Biology and Medicine, 2023
37780995 (PubMed )
Supplement: yjbm_96_3_367_appendixB.xlsx › Sheet1
The Impact of Whole Genome Data on Therapeutic Decision-Making in Metastatic Prostate Cancer: A Retrospective Analysis.
Crumbaker M et al.
Cancers, 2020
32392735 (PubMed )
Supplement: cancers-12-01178-s001.zip › cancers-762392-suppl-final › cancers-762392.xlsx › TableS1._Selected_germline_SNVs
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly.
Ishida M et al.
Clinical Genetics, 2018
Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children.
Sabo A et al.
Obesity (silver Spring, Md.), 2017
An exome array study of the plasma metabolome.
Rhee EP et al.
Nature Communications, 2016
Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria.
Espinós C et al.
Clinical Genetics, 2010
Cystathionine gamma-lyase: Clinical, metabolic, genetic, and structural studies.
Kraus JP et al.
Molecular Genetics and Metabolism, 2009
Structural basis for the inhibition mechanism of human cystathionine gamma-lyase, an enzyme responsible for the production of H(2)S.
Sun Q et al.
The Journal of Biological Chemistry, 2009
Kinetic properties of polymorphic variants and pathogenic mutants in human cystathionine gamma-lyase.
Zhu W et al.
Biochemistry, 2008
Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH).
Wang J et al.
Human Genetics, 2003
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