1- Articles


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


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.


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


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).


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


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