Associated Papers
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
39456122 (PubMed )
Supplement: CTM2-14-e70074-s003.xlsx › Table_S3
Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.
Liu Y et al.
Iscience, 2022
36060063 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Identification of two variants in AGRN and RPL3L genes in a patient with catecholaminergic polymorphic ventricular tachycardia suggesting new candidate disease genes and digenic inheritance.
Jaouadi H et al.
Clinical Case Reports, 2022
35341025 (PubMed )
Supplement: CCR3-10-e05339-s001.xlsx › Feuil1
Case report: Prenatal diagnosis of fetal non-compaction cardiomyopathy with bradycardia accompanied by de novo CALM2 mutation.
Zhang W et al.
Frontiers in Pediatrics, 2022
36507129 (PubMed )
Supplement: Table1.xlsx › Supplemental_Table
Gene Expression and Missplicing in the Corneal Endothelium of Patients With a TCF4 Trinucleotide Repeat Expansion Without Fuchs' Endothelial Corneal Dystrophy.
Wieben ED et al.
Investigative Ophthalmology & Visual Science, 2019
31469403 (PubMed )
Supplement: iovs-60-10-11_s03.pdf
A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing.
Sun Y et al.
Frontiers in Genetics, 2019
31572438 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Circulating tumor DNA as a marker of treatment response in BRAF V600E mutated non-melanoma solid tumors.
Ahlborn LB et al.
Oncotarget, 2018
30220966 (PubMed )
Supplement: oncotarget-09-32570-s003.xlsx › Sheet1
Circulating Tumour DNA Analysis for Tumour Genome Characterisation and Monitoring Disease Burden in Extramedullary Multiple Myeloma.
Mithraprabhu S et al.
International Journal of Molecular Sciences, 2018
29937522 (PubMed )
Supplement: ijms-19-01858-s001.zip › ijms-320037-supp › Supplementary_File_S1.xlsx › ctDNA_INDELS
Deep resequencing of CFTR in 762 F508del homozygotes reveals clusters of non-coding variants associated with cystic fibrosis disease traits.
Vecchio-Pagán B et al.
Human Genome Variation, 2016
27917292 (PubMed )
Supplement: hgv201638-s6.xls › Sup_2
A combined analysis of the cystic fibrosis transmembrane conductance regulator: implications for structure and disease models.
Chen JM et al.
Molecular Biology and Evolution, 2001
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