Van Esch, Hilde

Top Publications

Top Publications Authored or Co-Authored by "Van Esch, Hilde"

• A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

  Nature Genetics, Volume 41, No. 5, Year 2009, Citations 599
• Phenotype and genotype in 101 males with x-linked creatine transporter deficiency

  Journal of Medical Genetics, Volume 50, No. 7, Year 2013, Citations 121
• cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

  Nature Genetics, Volume 52, No. 12, Year 2020, Citations 98
• Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

  American Journal of Human Genetics, Volume 97, No. 6, Year 2015, Citations 69
• Predicting fetoplacental chromosomal mosaicism during non-invasive prenatal testing

  Prenatal Diagnosis, Volume 38, No. 4, Year 2018, Citations 65