Publications dans lesquelles il/elle collabore avec P. Lapunzina (16)

2024

  1. Genetic and phenotypic findings in 34 novel Spanish patients with DDX3X neurodevelopmental disorder

    Clinical Genetics, Vol. 105, Núm. 2, pp. 140-149

2023

  1. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

    Genes, Vol. 14, Núm. 6

2022

  1. Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

    Cancers, Vol. 14, Núm. 15

  2. Novel genes and sex differences in COVID-19 severity

    Human molecular genetics, Vol. 31, Núm. 22, pp. 3789-3806

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

    Frontiers in Genetics, Vol. 13

2020

  1. Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

    European Journal of Human Genetics, Vol. 28, Núm. 4, pp. 469-479

  2. Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

    Human Mutation, Vol. 41, Núm. 1, pp. 265-276

2017

  1. 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

2016

  1. Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 1, pp. 210-216

2015

  1. Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: Identification and characterization of novel TCF12 variants

    European Journal of Human Genetics, Vol. 23, Núm. 7, pp. 907-914

2014

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

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

  2. Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 5, pp. 1136-1142

2013

  1. Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica

    Revista Espanola de Cardiologia, Vol. 66, Núm. 5, pp. 350-356

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome-Osteogenesis imperfecta phenotypic spectrum

    Human Mutation, Vol. 33, Núm. 10, pp. 1444-1449

2010

  1. CDKN1C (p57Kip2) analysis in beckwith-wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms

    American Journal of Medical Genetics, Part A, Vol. 152, Núm. 6, pp. 1390-1397