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Megana K. Prasad

University of Strasbourg

9

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201

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Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

2019 Methods of Molecular Biology
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Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

2017 JAAD case reports
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Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.

2016 Journal of Human Genetics
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