Associated Papers
EZH2 loss promotes gastric squamous cell carcinoma.
Zhang M et al.
Nature Communications, 2025
40595652 (PubMed )
Supplement: 41467_2025_61024_MOESM3_ESM.xlsx › mutation_gene_list
CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.
Guo J et al.
Human Genomics, 2025
40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1
A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity.
Moresco G et al.
Genes & Genomics, 2025
39467966 (PubMed )
Supplement: 13258_2024_1589_MOESM1_ESM.xlsx › Foglio2
In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.
Kasai S et al.
Pediatric Blood & Cancer, 2024
38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs
Case report: A cyclic neutropenia patient with ELANE mutation accompanied by hemophagocytic lymphohistiocytosis.
Yu L et al.
Frontiers in Immunology, 2024
39676859 (PubMed )
Supplement: Table1.docx
Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family.
Fagius J et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
37460866 (PubMed )
Supplement: 10286_2023_963_MOESM2_ESM.xlsx › Variants
Clinical and genomic features of non-small cell lung cancer occurring in families.
Miyabe S et al.
Thoracic Cancer, 2023
36869602 (PubMed )
Supplement: TCA-14-940-s001.xlsx › suppl.table3
Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.
Xie Y et al.
Children (basel, Switzerland), 2022
36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS5
RET c.1901G>A and Novel SLC12A3 Mutations in Familial Pheochromocytomas
Zhao L et al.
Genes, 2022
35627249 (PubMed )
Supplement: genes-13-00864-s001.zip › Supplementary_Material_S1.The_information_of_annotated_gene_mutations1.xlsx › ___
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
Clinical and genetic study of 12 Chinese Han families with nonsyndromic deafness.
Wu D et al.
Molecular Genetics & Genomic Medicine, 2020
32048449 (PubMed )
Supplement: MGG3-8-e1177-s002.pdf
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
Wakil SM et al.
Bmc Medical Genetics, 2019
Clonal lineage of high grade serous ovarian cancer in a patient with neurofibromatosis type 1.
Norris EJ et al.
Gynecologic Oncology Reports, 2018
29892687 (PubMed )
Supplement: mmc1.pdf
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure.
Yang L et al.
Frontiers in Genetics, 2018
29456554 (PubMed )
Supplement: Data_Sheet_2.XLSX › Variants_detected
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels
The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.
Hoffmann MJ et al.
Bladder Cancer (amsterdam, Netherlands), 2016
28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
Select a paper to view details