Associated Papers
A novel frameshift variation of PKD1 in familial autosomal dominant polycystic kidney diseases: expanding the clinical phenotype and genetic spectrum of PKD1 disorders.
Chen Q et al.
Bmc Medical Genomics, 2025
41163060 (PubMed )
Supplement: 12920_2025_2248_MOESM1_ESM.xlsx › Sheet1
Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.
Tang QY et al.
Imetaomics, 2025
41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D
Genomic and clinical characterization of pediatric lymphoepithelioma-like carcinoma.
Que Y et al.
Journal of Translational Medicine, 2024
39633439 (PubMed )
Supplement: 12967_2024_5921_MOESM7_ESM.xlsx › 11newmerge
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
A de novo mutation of ADAMTS8 in a patient with Wiedemann-Steiner syndrome.
Wang S et al.
Molecular Cytogenetics, 2023
37649104 (PubMed )
Supplement: 13039_2023_654_MOESM1_ESM.xlsx › Sheet1
Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia.
Lin D et al.
Bmc Medical Genomics, 2023
36703207 (PubMed )
Supplement: 12920_2023_1442_MOESM3_ESM.xlsx › Sheet1
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Case Report: A Novel Mutation Identified in CHST14 Gene in a Fetus With Structural Abnormalities.
Zhou YY et al.
Frontiers in Genetics, 2022
35464846 (PubMed )
Supplement: Table1.xlsx › DX1515_20D2319547R
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
34603379 (PubMed )
Supplement: Data_Sheet_1.XLSX › DX1616_21D03390594-1
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.
Lin PC et al.
Molecular Genetics & Genomic Medicine, 2020
32160409 (PubMed )
Supplement: MGG3-8-e1220-s001.xlsx › ___1
Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.
Richter-Pechańska P et al.
Blood Cancer Journal, 2017
28157215 (PubMed )
Supplement: bcj20173x11.xlsx › SNVsInDelsCalled_in214Pts
Whole Exome Sequencing Identifies Frequent Somatic Mutations in Cell-Cell Adhesion Genes in Chinese Patients with Lung Squamous Cell Carcinoma.
Li C et al.
Scientific Reports, 2015
26503331 (PubMed )
Supplement: srep14237-s7.xls › Sheet1
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