Publications dans lesquelles il/elle collabore avec MARÍA ISABEL TEJADA MÍNGUEZ (82)

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. Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity

    Journal of Molecular Diagnostics, Vol. 22, Núm. 9, pp. 1205-1215

  4. Molecular characterization of Spanish patients with MECP2 duplication syndrome

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

  5. 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

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

    Mitochondrion, Vol. 52, pp. 157-162

  7. 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

  4. 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