Associated Papers
MCM9 deficiency impairs DNA damage repair during spermatogenesis, leading to Sertoli cell-only syndrome in humans.
Sha X et al.
Cell Death Discovery, 2025
40593474 (PubMed )
Supplement: 41420_2025_2581_MOESM1_ESM.docx
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 › ___
Identification of Potentially Pathogenic Variants Associated with Recurrence in Medication-Related Osteonecrosis of the Jaw (MRONJ) Patients Using Whole-Exome Sequencing.
Kim S et al.
Journal of Clinical Medicine, 2022
Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.
Yang Y et al.
Pediatric Investigation, 2021
34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf
Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.
Nagasawa S et al.
Communications Biology, 2021
33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations.
Wang W et al.
Journal of Medical Genetics, 2019
31413122 (PubMed )
Supplement: jmedgenet-2019-106031supp001.pdf
Identification of Targetable Lesions in Anaplastic Thyroid Cancer by Genome Profiling.
Ravi N et al.
Cancers, 2019
30909364 (PubMed )
Supplement: cancers-11-00402-s001.zip › cancers-454918-suppl-final › cancers-454918-Table-S3.xlsx › Sheet1
Truncating Variant in Myof Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and Cardiomyopathy.
Kiselev A et al.
Frontiers in Genetics, 2019
31297131 (PubMed )
Supplement: Table_2.xlsx › ____1
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility.
Ta-Shma A et al.
Plos Genetics, 2018
30148830 (PubMed )
Supplement: pgen.1007602.s008.pdf
A novel association of campomelic dysplasia and hydrocephalus with an unbalanced chromosomal translocation upstream of SOX9.
Antwi P et al.
Cold Spring Harbor Molecular Case Studies, 2018
Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S et al.
Genome Research, 2018
29567674 (PubMed )
Supplement: supp_gr.223693.117_Supplemental_Table_S8.xls › Indels_Exonic
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_1_early_met_2
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