Publications en collaboration avec des chercheurs de Universitat Pompeu Fabra (8)

2022

  1. FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

    Genetics in Medicine, Vol. 24, Núm. 12, pp. 2475-2486

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

    Frontiers in Genetics, Vol. 13

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. 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

  2. Survival and health in liveborn infants with transposition of great arteries - A population-based study

    Congenital Heart Disease, Vol. 2, Núm. 3, pp. 165-169