List of works - Eduardo Calpena

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

scientific article published on 6 July 2012

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

scientific article published on 03 April 2019

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

scientific article published on 9 May 2014

Autosomal recessive Charcot-Marie-Tooth neuropathy

scientific article published on January 2012

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

scientific article published on 21 February 2017

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

scientific article published on 6 July 2013

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

scientific article published on 18 February 2015

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

scientific article published on 21 March 2019

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

scientific article published on 19 May 2020

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

scientific article published on 26 July 2018

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

scientific article

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

scientific article published on 07 August 2018

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

scientific article

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

scientific article published on 12 July 2019

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

scientific article published on 28 August 2014

Membrane organization and cell fusion during mating in fission yeast requires multipass membrane protein Prm1

scientific article published on 10 February 2014

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

scientific article

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

article

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

scientific article published on 05 June 2020

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

scientific article published on 01 March 2021

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

scientific article

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

scientific article published on 24 July 2015

amplimap: a versatile tool to process and analyze targeted NGS data

scientific article published on 01 December 2019

List of works by Eduardo Calpena

5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes

A de novo substitution in BCL11B leads to loss of interaction with transcriptional complexes and craniosynostosis

A novel locus for a hereditary recurrent neuropathy on chromosome 21q21.

Autosomal recessive Charcot-Marie-Tooth neuropathy

CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency.

Complexity of the Hereditary Motor and Sensory Neuropathies: Clinical and Cellular Characterization of the MPZ p.D90E Mutation.

De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome

Evolutionary History of the Smyd Gene Family in Metazoans: A Framework to Identify the Orthologs of Human Smyd Genes in Drosophila and Other Animal Species

Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Membrane organization and cell fusion during mating in fission yeast requires multipass membrane protein Prm1

Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome

New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

The Drosophila junctophilin gene is functionally equivalent to its four mammalian counterparts and is a modifier of a Huntingtin poly-Q expansion and the Notch pathway

The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.

amplimap: a versatile tool to process and analyze targeted NGS data