Clarisse Baumann
Ohio University(US)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Connective tissue disorders research, Genomics and Rare Diseases, Protein Tyrosine Phosphatases
Most-Cited Works
- → Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection(2006)670 cited
- → Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome(2006)598 cited
- → Specific Genetic Disorders and Autism: Clinical Contribution Towards their Identification(2005)315 cited
- → Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome(2007)254 cited
- → CHARGE syndrome: Report of 47 cases and review(1998)254 cited
- → Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations(2012)214 cited
- → Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients(2010)210 cited
- → Should chromosome breakage studies be performed in patients with VACTERL association?(2005)155 cited
- → Duplication of the 15q11-q13 region: Clinical and genetic study of 30 new cases(2013)134 cited
- → Juvenile myelomonocytic leukaemia and Noonan syndrome(2014)134 cited