Eduardo Calpena Corpas
PhD
Postdoctoral Research Assistant
"Rare diseases are rare, but rare disease patients are numerous"
Rare diseases awakened my interest for Human Genetics and since that, I have been involved in projects for identifying new genes involved in Mendelian Genetic Disorders and for the discovery of genetic modifiers.
I performed my PhD studies ('The genetic and cellular bases of inherited peripheral neuropathies') at the Genetics and Genomics of Neuromuscular Diseases Unit, Principe Felipe Research Center (CIPF) and the Biomedical Institute (IBV'CSIC, Spanish Research Council) in Valencia (Spain).
As a Postdoctoral Research Assistant at the Clinical Genetics group, my main objective is to identify new disease genes in craniofacial disorders, and for that, we are using Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS) technologies.
Recent publications
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Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.
Journal article
Maroofian R. et al, (2024), HGG Adv, 5
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The impact of inversions across 33,924 families with rare disease from a national genome sequencing project.
Journal article
Pagnamenta AT. et al, (2024), Am J Hum Genet, 111, 1140 - 1164
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Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.
Journal article
Pagnamenta AT. et al, (2023), Genome Med, 15
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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Journal article
Tooze RS. et al, (2023), Genet Med
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Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels
Journal article
Tooze RS. et al, (2023), Genes, 14, 615 - 615