Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario de Cruces (53)

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

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. 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

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

    Mitochondrion, Vol. 52, pp. 157-162

  5. 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

2016

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

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

  2. 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

  3. The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome

    Clinical Genetics, Vol. 89, Núm. 6, pp. 733-738

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

2014

  1. Guía clínica de las enfermedades asociadas al gen FMR1: síndrome X frágil, insuficiencia ovárica primaria y síndrome de temblor-ataxia

    Medicina Clinica, Vol. 142, Núm. 5, pp. 219-225

2013

  1. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  2. MECP2 gene study in a large cohort: Testing of 240 female patients and 861 healthy controls (519 females and 342 males)

    Journal of Molecular Diagnostics, Vol. 15, Núm. 5, pp. 723-729

2012

  1. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain

    BMC Medical Genetics, Vol. 13

  2. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657