Karen E. Heath

机构：Hospital Universitario La Paz, Instituto de Salud Carlos III, Hospital La Paz Institute for Health Research, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Instituto de Investigación de Enfermedades Raras, Universidad Autónoma de Madrid · ORCID：0000-0002-5816-7044

发表论文 180 篇 · 总被引 4489 次 · h-index 38

代表论文

• Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study (2023 · Orphanet Journal of Rare Diseases · 被引 53)
• ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions (2024 · European Journal of Medical Genetics · 被引 12)
• International guideline on genetic testing of children with short stature (2026 · European Journal of Endocrinology · 被引 7)
• Case report: A third variant in the 5′ UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome (2023 · Frontiers in Genetics · 被引 5)
• Characterization of three adults and an adolescent with Osteogenesis Imperfecta type VI and a novel founder SERPINF1 variant (2023 · European Journal of Medical Genetics · 被引 4)
• Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13 ‐related: Description of 11 further cases (2023 · Clinical Genetics · 被引 4)