Hospital Vall d'Hebron-ko ikertzaileekin lankidetzan egindako argitalpenak (12)

2022

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

    Frontiers in Genetics, Vol. 13

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

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

2018

  1. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2016

  1. Stratification and therapeutic potential of PML in metastatic breast cancer

    Nature Communications, Vol. 7

2015

  1. Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

    Molecular Autism, Vol. 6, Núm. 1

2013

  1. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: A case-control study

    The Lancet Neurology, Vol. 12, Núm. 12, pp. 1159-1169

  2. MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study

    Clinical Genetics, Vol. 84, Núm. 6, pp. 539-545

2009

  1. Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder

    Human Molecular Genetics, Vol. 18, Núm. 10, pp. 1795-1804

2008

  1. Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

    BMC Medical Genetics, Vol. 9

2007

  1. Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis

    American Journal of Medical Genetics, Part A, Vol. 143, Núm. 10, pp. 1108-1113