Lauréane Mittaz‐Crettol
University of Lausanne(CH)
Publications by Year
Research Areas
Connective tissue disorders research, Bone health and treatments, Congenital heart defects research, Protease and Inhibitor Mechanisms, Bone fractures and treatments
Most-Cited Works
- → Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution(2011)127 cited
- → CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations(2021)56 cited
- → Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A(2014)52 cited
- → Identification of novel LFNG mutations in spondylocostal dysostosis(2018)25 cited
- → Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease(2016)23 cited
- → Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach(2016)20 cited
- → Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes(2018)13 cited
- → Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose?(2018)12 cited
- → Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia(2012)10 cited
- Multiple Epiphyseal Dysplasia, Recessive(2014)