E. Calpena

发表

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

A. Toutain, A. Wilkie, J. Galbany, 2019, Human mutation.

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

J. Satrústegui, E. Calpena, F. Palau, 2017, Scientific Reports.

Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders

R. Lifton, M. Passos-Bueno, S. Twigg, 2021, Journal of Medical Genetics.

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

E. van Binsbergen, S. Twigg, A. Wilkie, 2019, American journal of human genetics.

The Deciphering Developmental Disorders Study (2019). De Novo Missense Substitutions in the Gene Encoding CDK8, a Regulator of the Mediator Complex, Cause a Syndromic Developmental Disorder. American Journal of Human Genetics 104 (4),

M. V. Dooren, S. Twigg, A. Wilkie, 2019 .

Dissection of contiguous gene effects for deletions around ERF on chromosome 19

S. Twigg, A. Wilkie, H. Stewart, 2021, Human mutation.

Autosomal recessive Charcot-Marie-Tooth neuropathy.

C. Espinós, E. Calpena, D. Martínez-Rubio, 2012, Advances in experimental medicine and biology.

Complexity of the Hereditary Motor and Sensory Neuropathies

S. Pascual-Pascual, C. Espinós, E. Calpena, 2015, Journal of child neurology.

The EGR2 gene is involved in axonal Charcot−Marie−Tooth disease

J. Dopazo, R. Sivera, C. Espinós, 2015, European journal of neurology.

Sh3tc2 deficiency affects neuregulin‐1/ErbB signaling

J. Beckmann, J. Senderek, R. Chrast, 2013, Glia.

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay.

R. Quinton, W. Crowley, A. Wilkie, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

C. Pérez-Cerdá, M. Ugarte, M. Palacín, 2013, Molecular genetics and metabolism.

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

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

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

S. Twigg, P. J. van der Spek, J. Schwabe, 2019, Human molecular genetics.

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

A. Reymond, A. Pagnamenta, S. Knight, 2020, bioRxiv.

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

I. Krantz, V. Lefebvre, C. Depienne, 2020, American journal of human genetics.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

W. Lattanzi, S. Twigg, A. Wilkie, 2020, Genetics in Medicine.

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

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

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

R. Artuch, J. Colomer, C. Espinós, 2012, JIMD Reports.

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

T. Strom, J. Clayton-Smith, A. Ekici, 2018, American journal of human genetics.

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

Beatriz Llamusí, R. Artero, M. I. Galindo, 2018, Disease Models & Mechanisms.

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

M. I. Galindo, C. Espinós, E. Calpena, 2015, PloS one.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis

M. B. Pereira, A. Need, M. Kayikci, 2021, Genetics in Medicine.

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

R. Pfundt, A. Wilkie, K. Gripp, 2021, Human mutation.

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

C. Espinós, N. Manning, E. Calpena, 2015, European Journal of Pediatrics.

Recurrent de novo missense variants across multiple histone H4 genes underlie a neurodevelopmental syndrome

R. Pfundt, D. Baralle, I. Thiffault, 2022, American journal of human genetics.

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels

S. Twigg, A. Wilkie, A. Weber, 2023, Genes.

Disruption of TWIST1 translation by 5′ UTR variants in Saethre‐Chotzen syndrome

S. Twigg, A. Wilkie, S. McGowan, 2018, Human mutation.

Membrane Organization and Cell Fusion During Mating in Fission Yeast Requires Multipass Membrane Protein Prm1

J. Leatherwood, M. R. Sharifmoghadam, M. Curto, 2014, Genetics.

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

E. Rivas, R. Sivera, C. Espinós, 2015, Human molecular genetics.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..

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

D. Montaner, J. García-Peñas, J. Arpa, 2014, Neuromuscular Disorders.

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

Nils Koelling, Marie Bernkopf, Eduardo Calpena, 2019, Bioinform..

Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

S. Twigg, F. Santos-Simarro, F. Carceller-Benito, 2023, Frontiers in Genetics.

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function

S. Twigg, A. Wilkie, F. D’Arco, 2022, Journal of Medical Genetics.

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

A. Pagnamenta, N. Popitsch, G. Lunter, 2023, Genome Medicine.

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

S. Twigg, P. J. van der Spek, J. Schwabe, 2019, Human molecular genetics.

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project

A. Pagnamenta, C. Shaw-Smith, N. Canham, 2024, American journal of human genetics.

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

N. de Leeuw, S. Twigg, A. Wilkie, 2023, Genetics in medicine : official journal of the American College of Medical Genetics.