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Page 1
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.
Ghaffar A, Akhter T, Strømme P, Misceo D, Khan A, Frengen E, Umair M, Isidor B, Cogné B, Khan AA, Bruel AL, Sorlin A, Kuentz P, Chiaverini C, Innes AM, Zech M, Baláž M, Havrankova P, Jech R, Ahmed ZM, Riazuddin S, Riazuddin S. Ghaffar A, et al. Among authors: chiaverini c. Commun Biol. 2024 Jul 8;7(1):831. doi: 10.1038/s42003-024-06466-1. Commun Biol. 2024. PMID: 38977784 Free PMC article.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C, Denommé-Pichon AS, Engel C, Tran Mau-Them F, Bruel AL, Vitobello A, Safraou H, Sorlin A, Nambot S, Delanne J, Garde A, Colin E, Moutton S, Thevenon J, Jean-Marçais N, Willems M, Geneviève D, Pinson L, Perrin L, Laffargue F, Lespinasse J, Lacaze E, Molin A, Gerard M, Lambert L, Benigni C, Patat O; Orphanomix Physician's Group; Bourgeois V, Poe C, Chevarin M, Couturier V, Garret P, Philippe C, Duffourd Y, Faivre L, Thauvin-Robinet C. Racine C, et al. J Med Genet. 2023 Dec 21;61(1):36-46. doi: 10.1136/jmg-2023-109170. J Med Genet. 2023. PMID: 37586840
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Parsnips and Phytophotodermatitis.
Chene L, Chiaverini C, Kandemir S, Hubiche T. Chene L, et al. Among authors: chiaverini c. J Pediatr. 2024 Jan;264:113727. doi: 10.1016/j.jpeds.2023.113727. Epub 2023 Sep 9. J Pediatr. 2024. PMID: 37696389 No abstract available.
Long-term effects of sirolimus treatment for slow-flow vascular malformations: Real-world evidence from the French observational multicentre SIROLO study.
Maillet C, Boccara O, Mallet S, Bessis D, Labrèze C, Mary-Prey S, Guibaud L, Bisdorff A, Dompmartin A, Mazereeuw-Hautier J, Chiaverini C, Hubiche T, Bonniaud B, Degrugillier-Chopinet C, Bursztejn AC, Aubert H, Severino M, Leducq S, Tardieu M, Joly A, Boulouis G, Le Touze A, Paré A, Tavernier E, Maruani A. Maillet C, et al. Among authors: chiaverini c. J Eur Acad Dermatol Venereol. 2024 Nov 25. doi: 10.1111/jdv.20385. Online ahead of print. J Eur Acad Dermatol Venereol. 2024. PMID: 39584318
Biologics in congenital ichthyosis: are they effective?
Mazereeuw-Hautier J, Granier Tournier C, Hernandez-Martin A, Milesi S, Texier H, Severino-Freire M, Bellon N, Bodemer C, Gruber R, Mahé E, Morice Picard F, Hannula-Jouppi K, Murase JE, Barbarot S, Cohen-Barak E, Torres-Pradilla M, Bruckner A, Levy M, Koh MJA, Masson Regnault M, Rossel V, Chiaverini C, Arkin LM, Ott H, Has C, Süβmuth K, Gostynski A, Shourick J, Paller AS. Mazereeuw-Hautier J, et al. Among authors: chiaverini c. Br J Dermatol. 2024 Oct 29:ljae420. doi: 10.1093/bjd/ljae420. Online ahead of print. Br J Dermatol. 2024. PMID: 39470394
Dupilumab in atopic-dermatitis-like eczema associated with inborn errors of immunity: A nationwide study.
Guillemin C, Bellon N, Jachiet M, Barbarot S, Bourrat E, Chiaverini C, Cougoul P, Ebbo M, Herber M, Hubiche T, Mallet S, Tauber M, Béziat V, Castelle M, Du Thanh A, Farhi J, Fieschi C, Fournier B, Gourguechon C, Guiddir T, Lipsker D, Raison-Peyron N, Garcelon N, Cheminant M, Suarez F, Hermine O, Blanche S, Moshous D, Mahlaoui N, Neven B, Bodemer C, Lévy R, Polivka L; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique (GR SFDP); French Atopic Dermatitis Network from the Groupe de Recherche sur l’Eczéma Atopique (GREAT). Guillemin C, et al. Among authors: chiaverini c. J Am Acad Dermatol. 2025 Jan;92(1):165-168. doi: 10.1016/j.jaad.2024.09.029. Epub 2024 Sep 27. J Am Acad Dermatol. 2025. PMID: 39343308 No abstract available.
158 results