Publications

1- Articles

2023

1- Aude Tessier et al., “Bi-Allelic Variations in CRB2, Encoding the Crumbs Cell Polarity Complex Component 2, Lead to Non-Communicating Hydrocephalus Due to Atresia of the Aqueduct of Sylvius and Central Canal of the Medulla”. Acta Neuropathologica Communications 11, no. 1 (February 20, 2023): 29, accessed October 9, 2023, https://doi.org/10.1186/s40478-023-01519-8.

2- Xiaoyi Chen et al., “Improving Patient Similarity Using Different Modalities of Phenotypes Extracted from Clinical Narratives”. Studies in Health Technology and Informatics 302 (May 18, 2023): 1037–1041.

3- Marceau Quatredeniers et al., “Meta-Analysis of Single-Cell and Single-Nucleus Transcriptomics Reveals Kidney Cell Type Consensus Signatures”. Scientific Data 10, no. 1 (June 6, 2023): 361.

4- Alexandre Benmerah et al., “Repurposing Small Molecules for Nephronophthisis and Related Renal Ciliopathies”. Kidney International 104, no. 2 (August 1, 2023): 245–253, accessed October 9, 2023, https://www.sciencedirect.com/science/article/pii/S0085253823003903.

5- Petzold, Friederike, et al. “The Genetic Landscape and Clinical Spectrum of Nephronophthisis and Related Ciliopathies”. Kidney International, vol. 104, no. 2, Aug. 2023, pp. 378–87, https://doi.org/10.1016/j.kint.2023.05.007.

2022

1- Lucile Boutaud et al., “2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development”, JoVE (Journal of Visualized Experiments), no. 181 (March 25, 2022): e62667, accessed October 9, 2023, https://www.jove.com/fr/v/62667/2d-3d-human-induced-pluripotent-stem-cell-based-models-to-dissect.

2- Hugo Garcia et al., “Agonists of Prostaglandin E2 Receptors as Potential First in Class Treatment for Nephronophthisis and Related Ciliopathies”, Proceedings of the National Academy of Sciences 119, no. 18 (May 3, 2022): e2115960119, accessed October 9, 2023, https://www.pnas.org/doi/abs/10.1073/pnas.2115960119.

3- Carole Faviez et al., “Enriching UMLS-Based Phenotyping of Rare Diseases Using Deep-Learning: Evaluation on Jeune Syndrome”, Studies in Health Technology and Informatics 294 (May 25, 2022): 844–848.

4- Marc Vincent et al., “Using Deep Learning to Improve Phenotyping from Clinical Reports”, Studies in Health Technology and Informatics 290 (June 6, 2022): 282–286.

5- Marceau Quatredeniers et al., “The Renal Inflammatory Network of Nephronophthisis”, Human Molecular Genetics 31, no. 13 (July 1, 2022): 2121–2136, accessed October 9, 2023, https://doi.org/10.1093/hmg/ddac014.

6- Madeline Louise Reilly et al., “Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia”, Journal of Bone and Mineral Research: The Official Journal of the American Society for Bone and Mineral Research 37, no. 9 (September 2022): 1642–1652.

2021

1- Dorval G, et al. 2021. Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes. Pediatric Nephrology volume 36, pages 2361–2369. doi: 10.1007/s00467-021-04953-9

2- Jordan P, et al. 2021. Bi-allelic pathogenic variations in DNAJB11 cause Ivemark II syndrome, a renal-hepatic-pancreatic dysplasia. Kidney Int. 2021 Feb;99(2):405-409. doi: 10.1016/j.kint.2020.09.029.

3- Xiaoyi C, et al. 2021. Identification of Similar Patients Through Medical Concept Embedding from Electronic Health Records: A Feasibility Study for Rare Disease Diagnosis. Stud Health Technol Inform. May 27;281:600-604. doi: 10.3233/SHTI210241

4- Dorval G, et al. 2021. Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease. Pediatr Nephrol. May;36(5):1165-1173. doi: 10.1007/s00467-020-04808-9.

5- Requena F, et al. 2021. CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients. Jul 2;49(W1):W93-W103. doi: 10.1093/nar/gkab347

2020

3- Iorio, P., L. Heidet, C. Rutten, N. Garcelon, M. P. Audrezet, V. Moriniere, N. Boddaert, R. Salomon, and L. Berteloot. 2020. 'The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases', Pediatr Nephrol, 35: 1033-40.

4- Le, T. L., Y. Sribudiani, X. Dong, C. Huber, C. Kois, G. Baujat, C. T. Gordon, V. Mayne, L. Galmiche, V. Serre, N. Goudin, M. Zarhrate, C. Bole-Feysot, C. Masson, P. Nitschke, F. W. Verheijen, L. Pais, A. Pelet, S. Sadedin, J. A. Pugh, N. Shur, S. M. White, S. El Chehadeh, J. Christodoulou, V. Cormier-Daire, R. M. W. Hofstra, S. Lyonnet, T. Y. Tan, T. Attie-Bitach, W. S. Kerstjens-Frederikse, J. Amiel, and S. Thomas. 2020. 'Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling', Am J Hum Genet, 106: 779-92.

2019

1- Caron, B., Y. Luo, and A. Rausell. 2019. 'NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans', Genome Biol, 20: 32.

2- Chen, X., N. Garcelon, A. Neuraz, K. Billot, M. Lelarge, T. Bonald, H. Garcia, Y. Martin, V. Benoit, M. Vincent, H. Faour, M. Douillet, S. Lyonnet, S. Saunier, and A. Burgun. 2019. 'Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping', J Biomed Inform, 100: 103308.

2- Reviews

2022

1- Giulia Ferri et al., “YAP Restricts Renal Inflammation and Mitigates Kidney Damage in Nephronothisis Related Kidney Disease”, (bioRxiv, January 18, 2022), accessed October 9, 2023, https://www.biorxiv.org/content/10.1101/2022.01.17.475784v1.

2- Hugo Garcia et al., “Prostaglandin E1 as Therapeutic Molecule for Nephronophthisis and Related Ciliopathies” (bioRxiv, January 23, 2022), accessed October 9, 2023, https://www.biorxiv.org/content/10.1101/2022.01.21.477191v1.

3- Francisco Requena et al., “CNVscore Calculates Pathogenicity Scores for Copy Number Variants Together with Uncertainty Estimates Accounting for Learning Biases in Reference Mendelian Disorder Datasets” (medRxiv, June 27, 2022), accessed October 9, 2023, https://www.medrxiv.org/content/10.1101/2022.06.23.22276396v1.

2021

1- Stokman MF, Saunier S, Benmerah A. 2021. Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis. Front Cell Dev Biol. doi: 10.3389/fcell.2021.653138. 2- Vincent M et al, 2021, Using deep learning to improve phenotyping from clinical reports, Studies in Health Technology and Informatics (accepted).

2020

2- Faviez, C., X. Chen, N. Garcelon, A. Neuraz, B. Knebelmann, R. Salomon, S. Lyonnet, S. Saunier, and A. Burgun. 2020. 'Diagnosis support systems for rare diseases: a scoping review', Orphanet J Rare Dis, 15: 94. 3- Garcelon N, Burgun A, Salomon R, Neuraz A. 2020. 'Electronic health records for the diagnosis of rare diseases', Kidney Int, 97(4):676-686. doi:10.1016/j.kint.2019.11.037

2019

1- Thomas, S., L. Boutaud, M. L. Reilly, and A. Benmerah. 2019. 'Cilia in hereditary cerebral anomalies', Biol Cell, 111: 217-31.