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Year Number of Results
2002 1
2003 3
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2005 3
2006 5
2007 6
2008 2
2009 8
2010 9
2011 8
2012 7
2013 8
2014 5
2015 4
2016 14
2017 7
2018 8
2019 12
2020 9
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2022 10
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2024 9
2025 6

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Page 1
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
FOXE3 mutations: genotype-phenotype correlations.
Plaisancié J, Ragge NK, Dollfus H, Kaplan J, Lehalle D, Francannet C, Morin G, Colineaux H, Calvas P, Chassaing N. Plaisancié J, et al. Among authors: chassaing n. Clin Genet. 2018 Apr;93(4):837-845. doi: 10.1111/cge.13177. Clin Genet. 2018. PMID: 29136273 Review.
Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.
Ceroni F, Cicekdal MB, Holt R, Sorokina E, Chassaing N, Clokie S, Naert T, Talbot LV, Muheisen S, Bax DA, Kesim Y, Kivuva EC, Vincent-Delorme C, Lienkamp SS, Plaisancié J, De Baere E, Calvas P, Vleminckx K, Semina EV, Ragge NK. Ceroni F, et al. Among authors: chassaing n. Nat Commun. 2024 Oct 26;15(1):9245. doi: 10.1038/s41467-024-53553-2. Nat Commun. 2024. PMID: 39455595 Free PMC article.
Genetic Advances in Microphthalmia.
Plaisancie J, Calvas P, Chassaing N. Plaisancie J, et al. Among authors: chassaing n. J Pediatr Genet. 2016 Dec;5(4):184-188. doi: 10.1055/s-0036-1592350. Epub 2016 Sep 16. J Pediatr Genet. 2016. PMID: 27895970 Free PMC article. Review.
Expanding the KIF4A-associated phenotype.
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I. Kalantari S, et al. Among authors: chassaing n. Am J Med Genet A. 2021 Dec;185(12):3728-3739. doi: 10.1002/ajmg.a.62443. Epub 2021 Aug 3. Am J Med Genet A. 2021. PMID: 34346154 Free PMC article.
Re-focusing on Agnathia-Otocephaly complex.
Dubucs C, Chassaing N, Sergi C, Aubert-Mucca M, Attié-Bitach T, Lacombe D, Thauvin-Robinet C, Arpin S, Perez MJ, Cabrol C, Chen CP, Aziza J, Colin E, Martinovic J, Calvas P, Plaisancié J. Dubucs C, et al. Among authors: chassaing n. Clin Oral Investig. 2021 Mar;25(3):1353-1362. doi: 10.1007/s00784-020-03443-w. Epub 2020 Jul 9. Clin Oral Investig. 2021. PMID: 32643087 Review.
Biallelic USP14 variants cause a syndromic neurodevelopmental disorder.
Ebstein F, Latypova X, Sharon Hung KY, Prado MA, Lee BH, Möller S, Wendlandt M, Zieba BA, Florenceau L, Vignard V, Poirier L, Toutain B, Moroni I, Dubucs C, Chassaing N, Horvath J, Prokisch H, Küry S, Bézieau S, Paulo JA, Finley D, Krüger E, Ghezzi D, Isidor B. Ebstein F, et al. Among authors: chassaing n. Genet Med. 2024 Jun;26(6):101120. doi: 10.1016/j.gim.2024.101120. Epub 2024 Mar 10. Genet Med. 2024. PMID: 38469793 Free PMC article.
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.
150 results