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Alejandro Estrada-Cuzcano

4PUBLICATIONS

14CO-AUTHORS

Neurology and neuromuscular diseasesGenomicsEpigenetics (incl. genome methylation and epigenomics)Gene mapping

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Publications (4)

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|Aug 29, 2024

Identification and Characterization of Novel Founder Mutations in <i>NDRG1</i>: 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 <i>BBS5</i> 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

Frequent Collaborators

2 joint publications

Derek Atkinson

2 joint publications

Jean Muller

1 joint publications

Daliya Kancheva

1 joint publications

Peter De Rijk

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