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 · 128 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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 · 57 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

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 · 54 citations

Life Sciences, Neurology, Neuroscience +17

Identification of novel LFNG mutations in spondylocostal dysostosis

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

Life Sciences, Genetics, Molecular Genetics +5

Brief Report: Peripheral Osteolysis in Adults Linked to <i>ASAH1</i> (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

Luisa Bonafé, Ariana Kariminejad, Jia Li et al. · Arthritis & Rheumatology · 2016 · 23 citations

Medicine, Molecular Genetics, Molecular Medicine +13