Lauréane Mittaz‐Crettol

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

Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor et al. · Human Mutation · 2011 · 125 citations · Full text

CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations

Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi et al. · Genes · 2021 · 54 citations · Full text

Cnv Analysis, Genetics, Diagnosis +20

Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

Nuria García Segarra, Ivan Gautschi, Lauréane Mittaz‐Crettol et al. · Journal of the Neurological Sciences · 2014 · 52 citations

Hemiplegic Migraine, Function Mutation, Neurophysiology +7

Identification of novel LFNG mutations in spondylocostal dysostosis

Nao Otomo, Shuji Mizumoto, Hsing-Fang Lu et al. · Journal of Human Genetics · 2018 · 25 citations

Novel Lfng Mutations, Medicine, Genetics +6

Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

Karin Pichler, Daniela Karall, Dieter Kotzot et al. · Scientific Reports · 2016 · 20 citations · Full text