Alejandro Estrada-Cuzcano
4PUBLICATIONS
14CO-AUTHORS
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Publications (4)
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|Aug 29, 2024
Identification and Characterization of Novel Founder Mutations in NDRG1: Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria.Derek Atkinson, Teodora Chamova, Ayse Candayan
|May 27, 2023
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano
|Sep 25, 2019
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.Alejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée
|Oct 23, 2015
Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing.Daliya Kancheva, Derek Atkinson, Peter De Rijk
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Frequent Collaborators
2 joint publications
Derek Atkinson
2 joint publications
Jean Muller
1 joint publications
Daliya Kancheva
1 joint publications
Peter De Rijk
1 joint publications
Magdalena Zimon
1 joint publications
Amélie Piton
1 joint publications
Emmanuelle Génin
1 joint publications
Florian Sandron
1 joint publications
Anne Boland
1 joint publications
Jean-François Deleuze
