Eduardo Calpena
6PUBLICATIONS
22CO-AUTHORS
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Publications (6)
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|Jan 23, 2026
Chromosomal Rearrangements Identified in Three Additional Patients With Generalized Congenital Hypertrichosis With Gingival Hyperplasia Involving the 17q24.2-q24.3 Locus.Jair Tenorio-Castano, Marta Feito, Raúl de Lucas
|Mar 29, 2023
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Rebecca S Tooze, Eduardo Calpena, Astrid Weber
|Dec 21, 2022
Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg
|May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19.Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly
|Feb 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.Geeske M van Woerden, Melanie Bos, Charlotte de Konink
|Jan 13, 2021
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.Eduardo Calpena, Maud Wurmser, Simon J McGowan
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Frequent Collaborators
5 joint publications
Andrew O M Wilkie
2 joint publications
Stephen R F Twigg
2 joint publications
Rebecca S Tooze
1 joint publications
Geeske M van Woerden
1 joint publications
Melanie Bos
1 joint publications
Ben Distel
1 joint publications
Rossella Avagliano Trezza
1 joint publications
Angelika L Erwin
1 joint publications
Pablo Lapunzina
1 joint publications
Gwynna de Geus
