Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary
HiPSC-derived 3D neural models reveal neurodevelopmental pathomechanisms of the Cockayne Syndrome B.
Kapr J et al.
Cellular and Molecular Life Sciences : Cmls, 2024
Cockayne Syndrome Patient iPSC-Derived Brain Organoids and Neurospheres Show Early Transcriptional Dysregulation of Biological Processes Associated with Brain Development and Metabolism.
Szepanowski LP et al.
Cells, 2024
Mitochondrial DNA integrity and metabolome profile are preserved in the human induced pluripotent stem cell reference line KOLF2.1J.
Dobner J et al.
Stem Cell Reports, 2024
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
35595529 (PubMed )
Supplement: LSA-2021-01319_TableS1.xlsx › Sheet_1
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.
Dumont M et al.
Cancers, 2022
35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S3-final_16052022.xlsx › Table_S3A
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 2019
31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf
Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.
Calmels N et al.
Journal of Medical Genetics, 2018
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N et al.
Orphanet Journal of Rare Diseases, 2016
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.
Laugel V et al.
Journal of Medical Genetics, 2008
Select a paper to view details