Alejandro Estrada-Cuzcano

Scopus Author ID Loop profile ORCID

Publication Activity (10 Years)

Years Active: 2015-2024
Publications (10 Years): 4

Top Venues

International journal of molecular sciences

Human mutation

Genetics in medicine : official journal of the American College of Medical Genetics

University of Strasbourg

Radboud Universitair Medisch Centrum (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Strasbourg Dec 01 2017

France

Postdoctoral fellow :: Medical Genetics Laboratory

Education History

Radboud Universitair Medisch Centrum Sep 02 2008 - Sep 29 2012

Netherlands

PHD :: Human Genetics

Publications

Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev, Albena Jordanova
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria. International journal of molecular sciences 25 (16) (2024)
Derek Atkinson, Teodora Chamova, Ayse Candayan, Kristina Kastreva, Ognian Asenov, Ivan Litvinenko, Alejandro Estrada-Cuzcano, Els De Vriendt, Georgi Kukushev, Ivailo Tournev, Albena Jordanova
Identification and Characterization of Novel Founder Mutations in NDRG1 : Refining the Genetic Landscape of Charcot-Marie-Tooth Disease Type 4D in Bulgaria. International journal of molecular sciences 25 (16) (2024)
Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, French Exome Consortium, Richard Redon, Florian Sandron, Anne Boland-Auge, Jean François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects. International journal of molecular sciences 24 (10) (2023)
Alejandro Estrada-Cuzcano, Christelle Etard, Clarisse Delvallée, Corinne Stoetzel, Elise Schaefer, Sophie Scheidecker, Véronique Geoffroy, Aline Schneider, Fouzia Studer, Francesca Mattioli, Kirsley Chennen, Sabine Sigaudy, Damien Plassard, Olivier Poch, Amelie Piton, Uwe Strahle, Jean Muller, Hélène Dollfus
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. Human mutation 41 (1) (2019)
Daliya Kancheva, Derek Atkinson, Peter De Rijk, Magdalena Zimon, Teodora Chamova, Vanyo Mitev, Ahmet Yaramis, Gian Maria Fabrizi, Haluk Topaloglu, Ivailo Tournev, Yesim Parman, Yesim Parma, Esra Battaloglu, Alejandro Estrada-Cuzcano, Albena Jordanova
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. Genetics in medicine : official journal of the American College of Medical Genetics 18 (6) (2015)

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Publication Activity (10 Years)

Top Topics

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Alejandro Estrada-Cuzcano