Publicaciones en colaboración con investigadores/as de Necker-Enfants Malades Hospital (11)

2016

  1. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 12, pp. 3069-3082

  2. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

    Orphanet Journal of Rare Diseases, Vol. 11, Núm. 1

2015

  1. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 2, pp. 296-312

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. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders

    European Journal of Human Genetics, Vol. 21, Núm. 10, pp. 1074-1078

2012

  1. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

    American Journal of Human Genetics, Vol. 90, Núm. 2, pp. 369-377

2010

  1. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

    Human Mutation, Vol. 31, Núm. 2, pp. 113-126

  2. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2009

  1. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

    Nature Genetics, Vol. 41, Núm. 7, pp. 829-832

2007

  1. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth

    Nature Genetics, Vol. 39, Núm. 8, pp. 963-965

2003

  1. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

    Nature Genetics, Vol. 33, Núm. 4, pp. 459-461