Timothée Mazzucotelli
French Institute of Health and Medical Research
4 Papers
Timothée Mazzucotelli is an academic researcher from French Institute of Health and Medical Research. The author has contributed to research in topics: Computer science & Intellectual disability. The author has an hindex of 1, co-authored 1 publications.
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Papers
Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.
Pierre Parrend,Timothée Mazzucotelli,Florent Colin,Pierre Collet,Jean-Louis Mandel,Jean-Louis Mandel +5 more
TL;DR: C Cerberus is proposed, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations, and validated specifications for CSPs are given.
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GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders
Pauline Burger,Florent Colin,Axelle Strehle,Timothée Mazzucotelli,Nicole Collot,Romain Coutelle,B. Durand,A. C. Bouman,Daphna Landau Prat,Tjitske Kleefstra,Pierre Parrend,Amélie Piton,David A. Koolen,Jean-Louis Mandel +13 more
TL;DR: GenIDA as mentioned in this paper is an online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often limited number of patients' phenotypes reported.
GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver reported information on 237 individuals with Koolen-de Vries syndrome
Florent Colin,Pauline Burger,Timothée Mazzucotelli,Axelle Strehle,Joost Kummeling,Nicole Collot,Elyette Broly,Angela T Morgan,Kenneth A. Myers,Agnès Bloch-Zupan,Charlotte W. Ockeloen,Bert B.A. de Vries,Tjitske Kleefstra,Pierre Parrend,David A. Koolen,Jean-Louis Mandel +15 more
- 01 May 2023
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O46: GenIDA, an international participatory database to better characterize comorbidities of genetic forms of intellectual disability: insights on Koolen-de Vries syndrome
Pauline Burger,Florent Colin,Axelle Strehle,Timothée Mazzucotelli,Nicole Collot,Ariane Bouman,Daphna Prat,David Geneviève,Valentin Ruault,Roseline Caumes,Thomas Smol,Jamal Ghoumid,Joost Kummeling,Charlotte W. Ockeloen,Tjitske Kleefstra,Pierre Parrend,Amélie Piton,David A. Koolen,Jean-Louis Mandel +18 more
- 01 Jan 2023