Publications by the researcher in collaboration with 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