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
Novel Splice Variant in the HES7 Gene in Vietnamese Patient with Spondylocostal Dysostosis 4: A Case Report and Literature Review.
Nguyen HM et al.
Diagnostics (basel, Switzerland), 2025
Incomplete spinal cord injury following minor trauma in two siblings with spondylocostal dysostis type 6.
van der Vlis TAMB et al.
Spine Deformity, 2024
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
36553572 (PubMed )
Supplement: genes-13-02305-s001.zip › genes-2014296-supplementary.xlsx › Supplementary_Table_1
Clinical genetics of spondylocostal dysostosis: A mini review.
Umair M et al.
Frontiers in Genetics, 2022
Congenital cervical spine malformation due to bi-allelic RIPPLY2 variants in spondylocostal dysostosis type 6.
Wegler M et al.
Clinical Genetics, 2021
A Protocol for Preconceptional Screening of Consanguineous Couples Using Whole Exome Sequencing.
Dos Santos CMA et al.
Frontiers in Genetics, 2021
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
Serey-Gaut M et al.
American Journal of Medical Genetics. Part A, 2020
Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.
McInerney-Leo AM et al.
Human Molecular Genetics, 2015
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