Publikationen in Zusammenarbeit mit Forschern von Instituto de Investigación Sanitaria Biobizkaia (25)

2023

  1. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2022

  1. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

    Frontiers in Pediatrics, Vol. 10

2021

  1. A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codons

    Human Mutation, Vol. 42, Núm. 5, pp. 551-566

  2. The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2)

    Human Mutation, Vol. 42, Núm. 4, pp. 473-486

2020

  1. Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Frontiers in Molecular Biosciences, Vol. 7

  2. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

  3. Molecular characterization of Spanish patients with MECP2 duplication syndrome

    Clinical Genetics, Vol. 97, Núm. 4, pp. 610-620

  4. Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies

    Clinical Genetics, Vol. 97, Núm. 5, pp. 677-687

  5. Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

    Mitochondrion, Vol. 52, pp. 157-162

  6. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2019

  1. A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism

    Clinical Genetics

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

  2. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN

2017

  1. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2016

  1. Analysis of lynch syndrome mismatch repair genes in women with endometrial cancer

    Oncology (Switzerland), Vol. 91, Núm. 3, pp. 171-176

  2. Associated clinical disorders diagnosed by medical specialists in 188 FMR1 premutation carriers found in the last 25 years in the Spanish Basque Country: A retrospective study

    Genes, Vol. 7, Núm. 10

  3. Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing

    International Journal of Laboratory Hematology, Vol. 38, Núm. 6, pp. 629-638

2015

  1. Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

    Journal of Clinical Immunology, Vol. 35, Núm. 2, pp. 168-181

  2. L-acetylcarnitine for treating fragile X syndrome

    Cochrane Database of Systematic Reviews, Vol. 2015, Núm. 5