Associated Papers
Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.
He Q et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
Li S et al.
Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM6_ESM.xlsx › Sheet1
Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.
Dąbrowska J et al.
Journal of Clinical Medicine, 2023
36902838 (PubMed )
Supplement: jcm-12-02051-s001.zip › Supplementary_Tables_1-4.xlsx › ST4
Genetic screening of hypertensive patients with aldosterone hypersecretion under conditions of stress.
Mourtzi N et al.
Hormones (athens, Greece), 2022
Variants in chondroitin sulfate metabolism genes in thrombotic storm.
Nuytemans K et al.
Thrombosis Research, 2018
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
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
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-A2-A0ER-01A.domain
Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.
Albrechtsen A et al.
Diabetologia, 2013
23160641 (PubMed )
Supplement: 125_2012_2756_MOESM26_ESM.pdf
Clinical assessment incorporating a personal genome.
Ashley EA et al.
Lancet (london, England), 2010
A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia.
Bonafé L et al.
Journal of Medical Genetics, 2008
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