Associated Papers
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease.
Pitsava G et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
Two cases of familial glomuvenous malformation and description of a novel pathogenic mutation in glomulin gene (GLMN).
Couselo-Rodríguez C et al.
International Journal of Dermatology, 2023
Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Ustaszewski A et al.
Archives of Medical Science : Ams, 2021
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
A case of familial glomuvenous malformation with report of a novel genetic mutation.
Esteves M et al.
International Journal of Dermatology, 2020
Glomulin gene c.157_161del mutation in a family with multiple glomuvenous malformations.
Suárez-Magdalena O et al.
International Journal of Dermatology, 2019
Loss of heterozygosity in a case of glomuvenous malformations.
Ohata C et al.
The Journal of Dermatology, 2015
Genotypes and phenotypes of 162 families with a glomulin mutation.
Brouillard P et al.
Molecular Syndromology, 2013
Somatic uniparental isodisomy explains multifocality of glomuvenous malformations.
Amyere M et al.
American Journal of Human Genetics, 2013