Martinovic, Jéléna

Top Publications

Top Publications Authored or Co-Authored by "Martinovic, Jéléna"

• Null Leukemia Inhibitory Factor Receptor (LIFR) Mutations in Stüve-Wiedemann/Schwartz-Jampel Type 2 Syndrome

  American Journal of Human Genetics, Volume 74, No. 2, Year 2004, Citations 168
• Treacher Collins syndrome: A clinical and molecular study based on a large series of patients

  Genetics in Medicine, Volume 18, No. 1, Year 2016, Citations 119
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

  Human Mutation, Volume 30, No. 11, Year 2009, Citations 89
• Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

  European Journal of Human Genetics, Volume 24, No. 4, Year 2016, Citations 36