Lauréane Mittaz‐Crettol

Author

Also Known As

L Mittaz-Crettol, L. Mittaz-Crettol, Laureane Mittaz-Crettol, Laureane Mittaz‐Crettol, Lauréane Mittaz-Crettol, Lauréane Mittaz‐Crettol

Publications

352

Citations

H-Index

Concepts

All Affiliations

University of Lausanne Antwerp University Hospital Amrita Institute of Medical Sciences and Research Centre

About

Lauréane Mittaz‐Crettol is an author at University of Lausanne specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	5	5	156
2	Public Health	1	1	54
3	Social Sciences	1	1	52
4	Biochemistry	1	1	12
5	Biostatistics	1	1	54

Lauréane Mittaz‐Crettol

Publications

330

Citations

H-Index

Page 1

	Year	Citations
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, Human Mutation	2011	125
CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations Béryl Royer‐Bertrand, Katarina Cisarova, Florence Niel‐Bütschi, Genes Cnv AnalysisGeneticsDiagnosisPathologyDisease Gene Identification	2021	54
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, Journal of the Neurological Sciences Hemiplegic MigraineFunction MutationNeurophysiologyNeurologyNeuroscience	2014	52
Identification of novel LFNG mutations in spondylocostal dysostosis Nao Otomo, Shuji Mizumoto, Hsing-Fang Lu, Journal of Human Genetics Novel Lfng MutationsMedicineGeneticsPathologyMolecular Genetics	2018	25
Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach Karin Pichler, Daniela Karall, Dieter Kotzot, Scientific Reports	2016	20
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, Arthritis & Rheumatology	2016	19
Lamin B receptor-related disorder is associated with a spectrum of skeletal dysplasia phenotypes E. Thompson, Ebtesam Abdalla, Andrea Superti‐Furga, Bone SclerostinMendelian DisorderGenetic DisorderGeneticsPathology	2018	13
Are heterozygous carriers for hereditary fructose intolerance predisposed to metabolic disturbances when exposed to fructose? François‐Guillaume Debray, Katarina Damjanovic, Robin Rosset, American Journal of Clinical Nutrition Metabolic SyndromeMetabolic DisorderBiochemistryGenetic DisorderGenetics	2018	12
Severe neurologic manifestations from cervical spine instability in spondylo‐megaepiphyseal‐metaphyseal dysplasia Marleen Simon, Belinda Campos‐Xavier, Lauréane Mittaz‐Crettol, American Journal of Medical Genetics Part C Seminars in Medical Genetics	2012	10

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