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Lauréane Mittaz-Crettol

University of Lausanne

24

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190

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

2021 Genes
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Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes

2019 Bone
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Identification of novel LFNG mutations in spondylocostal dysostosis

2019 Journal of Human Genetics
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Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease

2016 Arthritis & Rheumatism
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Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach

2016 Scientific Reports
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Table 1. [Summary of Molecular Genetic Testing Used in Multiple Epiphyseal Dysplasia, Recessive].

2014
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Atelosteogenesis Type 2

2014
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Table 2. [SLC26A2 Variants Discussed in This GeneReview].

2014
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Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A

2014 Journal of the Neurological Sciences
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Table 1. [Summary of Molecular Genetic Testing Used in Atelosteogenesis Type 2].

2014
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