Publicaciones en las que colabora con P. Lapunzina (26)

2022

  1. Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

    Frontiers in Genetics, Vol. 13

2021

  1. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes

    HemaSphere, Vol. 5, Núm. 4

2019

  1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1

  2. Prorepair-B: A prospective cohort study of the impact of germline DNA repair mutations on the outcomes of patients with metastatic castration-resistant prostate cancer

    Journal of Clinical Oncology, Vol. 37, Núm. 6, pp. 490-503

  3. Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

    Journal of Experimental Medicine, Vol. 216, Núm. 2, pp. 407-418

2018

  1. CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

    Genetics in Medicine, Vol. 20, Núm. 8, pp. 882-889

  2. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

    Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552

  3. mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review

    Clinical Genetics, Vol. 93, Núm. 4, pp. 762-775

2017

  1. A new variant in PHKA2 is associated with glycogen storage disease type IXa

    Molecular Genetics and Metabolism Reports, Vol. 10, pp. 52-55

  2. Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants

    Clinical Genetics

  3. Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH

    PLoS ONE, Vol. 12, Núm. 2

  4. Molecular diagnosis of limb-girdle muscular dystrophy type 2A by next-generation sequencing

    Annals of Indian Academy of Neurology

  5. Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

    Molecular Genetics and Genomic Medicine, Vol. 5, Núm. 1, pp. 28-39

  6. Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example

    Genetics in Medicine

  7. The syndrome of central hypothyroidism and macroorchidism: IGSF1 controls TRHR and FSHB expression by differential modulation of pituitary TGFβ and Activin pathways

    Scientific Reports, Vol. 7

2016

  1. Clinical and molecular analyses of Beckwith–Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 10, pp. 2740-2749

2015

  1. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025

  2. PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

    European Journal of Human Genetics, Vol. 23, Núm. 12, pp. 1615-1626

2014

  1. A new overgrowth syndrome is due to mutations in RNF125

    Human Mutation, Vol. 35, Núm. 12, pp. 1436-1441

  2. Familial imbalance in 16p13.11 leads to a dosage compensation rearrangement in an unaffected carrier

    BMC Medical Genetics, Vol. 15, Núm. 1