Publikationen in Zusammenarbeit mit Forschern von Université Libre de Bruxelles (7)

2019

  1. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome (Genetics in Medicine, (2019), 21, 6, (1295-1307), 10.1038/s41436-018-0330-z)

    Genetics in Medicine

  2. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

    Genetics in Medicine, Vol. 21, Núm. 6, pp. 1295-1307

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. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

  2. 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

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. Clinical and molecular phenotype of Aicardi-Goutières syndrome

    American Journal of Human Genetics, Vol. 81, Núm. 4, pp. 713-725