Publicaciones en colaboración con investigadores/as de Universidad Católica San Antonio (23)

2024

  1. HELIX Syndrome, a Claudinopathy with Relevant Dermatological Manifestations: Report of Two New Cases

    Genes, Vol. 15, Núm. 6

  2. Novel risk loci for COVID-19 hospitalization among admixed American populations

    eLife, Vol. 13

2023

  1. Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

    GeroScience, Vol. 45, Núm. 1, pp. 543-553

  2. Androgen receptor polyQ alleles and COVID-19 severity in men: A replication study

    Andrology, Vol. 11, Núm. 1, pp. 24-31

  3. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

    Children, Vol. 10, Núm. 2

2022

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

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

  2. Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

    Scientific reports, Vol. 12, Núm. 1, pp. 10369

2021

  1. Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2019

  1. High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

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

2016

  1. Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence

    Anales de Pediatria, Vol. 84, Núm. 2, pp. 114-115

  2. 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. Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 786-790

  2. Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

    Human Genetics, Vol. 134, Núm. 6, pp. 553-568

  3. 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

  4. Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 4, pp. 902-906

  5. Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

    Neurobiology of Disease, Vol. 83, pp. 44-53

  6. Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

    Endocrine, Vol. 49, Núm. 1, pp. 139-147

  7. Schinzel-Giedion syndrome: A new mutation in SETBP1

    Anales de Pediatria, Vol. 82, Núm. 1, pp. e12-e16

  8. Síndrome cardiofaciocutáneo, un trastorno relacionado con el síndrome de Noonan: hallazgos clínicos y moleculares en 11 pacientes

    Medicina Clinica, Vol. 144, Núm. 2, pp. 67-72

2014

  1. Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement

    Genomics, Vol. 103, Núm. 4, pp. 288-291