Marcelis, Carlo L.M.

Top Publications

Top Publications Authored or Co-Authored by "Marcelis, Carlo L.M."

• The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

  Nature Genetics, Volume 49, No. 1, Year 2017, Citations 247
• An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

  Nature Communications, Volume 7, Article 11491, Year 2016, Citations 201
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70
• Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - Expanding the phenotypes associated with EFTUD2 mutations

  Orphanet Journal of Rare Diseases, Volume 8, No. 1, Article 110, Year 2013, Citations 49
• Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

  American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Volume 160 C, No. 3, Year 2012, Citations 31