Publications dans lesquelles il/elle collabore avec Karen J. Heath (13)

2020

  1. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

2019

  1. Loss of function BMP4 mutation supports the implication of the BMP/TGF-β pathway in the etiology of combined pituitary hormone deficiency

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 8, pp. 1591-1597

2018

  1. Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Clinical Endocrinology, Vol. 88, Núm. 6, pp. 820-829

  2. In-frame Variants in FLNA Proximal Rod 1 Domain Associate With a Predominant Cardiac Valvular Phenotype

    Revista Espanola de Cardiologia, Vol. 71, Núm. 7, pp. 545-552

2017

  1. FGF9 mutation causes craniosynostosis along with multiple synostoses

    Human Mutation, Vol. 38, Núm. 11, pp. 1471-1476

  2. 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

  3. Pitfalls of trio-based exome sequencing: Imprinted genes and parental mosaicism - MAGEL2 as an example

    Genetics in Medicine

2016

  1. Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported

    American Journal of Medical Genetics, Part A, Vol. 170, Núm. 6, pp. 1595-1599

2015

  1. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 5, pp. 1018-1025

2014

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

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

  2. NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

    PLoS ONE, Vol. 9, Núm. 1

2011

  1. Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

    European Journal of Human Genetics, Vol. 19, Núm. 12, pp. 1218-1225

  2. SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer

    Human Molecular Genetics, Vol. 20, Núm. 8, pp. 1547-1559