Associated Papers
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Zhang J et al.
Genetic Testing and Molecular Biomarkers, 2025
41342634 (PubMed )
Supplement: sj-pdf-1-gtm-10.1177_19450265251401002.pdf
Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.
Ben-Mahmoud A et al.
International Journal of Molecular Sciences, 2024
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
A new variant in the ZCCHC8 gene: diverse clinical phenotypes and expression in the lung.
Groen K et al.
Erj Open Research, 2024
38375433 (PubMed )
Supplement: 00487-2023.SUPPLEMENT.pdf
Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.
Magallón-Lorenz M et al.
Iscience, 2023
36818284 (PubMed )
Supplement: mmc2.xlsx › NMS-2
Genetic Variant Overlap Analysis Identifies Established and Putative Genes Involved in Pulmonary Fibrosis.
Groen K et al.
International Journal of Molecular Sciences, 2023
36769106 (PubMed )
Supplement: ijms-24-02790-s001.zip › ijms-2132947-supplementary.pdf
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
ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.
Seidel P et al.
Jci Insight, 2022
36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › RCC4
PTEN hamartoma tumour syndrome: what happens when there is no PTEN germline mutation?
Yehia L et al.
Human Molecular Genetics, 2020
Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.
Zhou Y et al.
Bmc Medical Genetics, 2020
32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
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
PRIMA-1MET-induced neuroblastoma cell death is modulated by p53 and mycn through glutathione level.
Mlakar V et al.
Journal of Experimental & Clinical Cancer Research : Cr, 2019
30755224 (PubMed )
Supplement: 13046_2019_1066_MOESM1_ESM.xlsx › CLB-GA
Dupuytren's and Ledderhose Diseases in a Family with LMNA-Related Cardiomyopathy and a Novel Variant in the ASTE1 Gene.
Zaragoza MV et al.
Cells, 2017
29104234 (PubMed )
Supplement: cells-06-00040-s001.pdf
Germline compound heterozygous poly-glutamine deletion in USF3 may be involved in predisposition to heritable and sporadic epithelial thyroid carcinoma.
Ni Y et al.
Human Molecular Genetics, 2017
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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