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Page 1
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.
Zagorec N, Calamel A, Delaporte M, Olinger E, Orr S, Sayer JA, Pillay VG, Denommé-Pichon AS, Mau-Them FT, Nambot S, Faivre L, Ars E, Torra R, Ong AC, Devuyst O, Perico N, Després AM, Lemoine H, de Fallois J, Brousse R, Hummel A, Knebelmann B, Maisonneuve N, Halbritter J, Le Meur Y, Audrézet MP, Cornec-Le Gall E; Genomics England Research Consortium, CYSTic Consortium and Genkyst Study Group. Zagorec N, et al. Among authors: denomme pichon as. Am J Kidney Dis. 2024 Dec 26:S0272-6386(24)01126-0. doi: 10.1053/j.ajkd.2024.10.009. Online ahead of print. Am J Kidney Dis. 2024. PMID: 39732359
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME, Balsells S, Martorell L, Alcalá San Martín A, Ansell K, Børresen ML, Johnson H, Korff C, Garcia-Tarodo S, Lefranc J, Denommé-Pichon AS, Sarrazin E, Szabo NZ, Saraiva JM, Wicher D, Goverde A, Bindels-de Heus KGCB, Barakat TS, Ortigoza-Escobar JD. Amato ME, et al. Among authors: denomme pichon as. Eur J Paediatr Neurol. 2024 Nov;53:63-72. doi: 10.1016/j.ejpn.2024.10.005. Epub 2024 Oct 9. Eur J Paediatr Neurol. 2024. PMID: 39413657 Review.
An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, Mehtarizadeh M, Neerincx P, Ossowski S, Rath A, Roelofs-Prins D, Stok-Benjamins M, van der Velde KJ, Veal C, van der Vries G, Wadsley M, Warren G, Zurek B, Keane T, Graessner H, Beltran S, Swertz MA, Brookes AJ; Solve-RD consortium. Johansson LF, et al. Gigascience. 2024 Jan 2;13:giae058. doi: 10.1093/gigascience/giae058. Gigascience. 2024. PMID: 39302238 Free PMC article.
Expanding MNS1 Heterotaxy Phenotype.
Maraval J, Delahaye-Duriez A, Racine C, Bruel AL, Denommé-Pichon AS, Gaudillat L, Thauvin-Robinet C, Lucain M, Satre V, Coutton C; AURAGEN Consortium; de Sainte Agathe JM, Keren B, Faivre L. Maraval J, et al. Among authors: denomme pichon as. Am J Med Genet A. 2025 Jan;197(1):e63862. doi: 10.1002/ajmg.a.63862. Epub 2024 Sep 5. Am J Med Genet A. 2025. PMID: 39233552
Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders.
Thauvin-Robinet C, Garde A, Delanne J, Racine C, Rousseau T, Simon E, François M, Moutton S, Sylvie O, Quelin C, Morel G, Goldenberg A, Guerrot AM, Vera G, Gruchy N, Colson C, Boute O, Abel C, Putoux A, Amiel J, Guichet A, Isidor B, Deiller C, Wells C, Rooryck C, Legendre M, Francannet C, Dard R, Sigaudy S, Bruel AL, Safraou H, Denommé-Pichon AS, Nambot S, Asensio MH, Binquet C, Duffourd Y, Vitobello A, Philippe C, Faivre L, Tran-Mau-Them F, Bourgon N. Thauvin-Robinet C, et al. Among authors: denomme pichon as. Prenat Diagn. 2024 Sep;44(10):1179-1197. doi: 10.1002/pd.6623. Epub 2024 Aug 13. Prenat Diagn. 2024. PMID: 39138116
RNA variant assessment using transactivation and transdifferentiation.
Nicolas-Martinez EC, Robinson O, Pflueger C, Gardner A, Corbett MA, Ritchie T, Kroes T, van Eyk CL, Scheffer IE, Hildebrand MS, Barnier JV, Rousseau V, Genevieve D, Haushalter V, Piton A, Denommé-Pichon AS, Bruel AL, Nambot S, Isidor B, Grigg J, Gonzalez T, Ghedia S, Marchant RG, Bournazos A, Wong WK, Webster RI, Evesson FJ, Jones KJ; PERSYST Investigator Team; Cooper ST, Lister R, Gecz J, Jolly LA. Nicolas-Martinez EC, et al. Among authors: denomme pichon as. Am J Hum Genet. 2024 Aug 8;111(8):1673-1699. doi: 10.1016/j.ajhg.2024.06.018. Epub 2024 Jul 30. Am J Hum Genet. 2024. PMID: 39084224 Free PMC article.
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.
Nakamura Y, Shimada IS, Maroofian R, Falabella M, Zaki MS, Fujimoto M, Sato E, Takase H, Aoki S, Miyauchi A, Koshimizu E, Miyatake S, Arioka Y, Honda M, Higashi T, Miya F, Okubo Y, Ogawa I, Scardamaglia A, Miryounesi M, Alijanpour S, Ahmadabadi F, Herkenrath P, Dafsari HS, Velmans C, Al Balwi M, Vitobello A, Denommé-Pichon AS, Jeanne M, Civit A, Abdel-Hamid MS, Naderi H, Darvish H, Bakhtiari S, Kruer MC, Carroll CJ, Ghayoor Karimiani E, Khailany RA, Abdulqadir TA, Ozaslan M, Bauer P, Zifarelli G, Seifi T, Zamani M, Al Alam C, Alvi JR, Sultan T, Efthymiou S, Pope SAS, Haginoya K, Matsunaga T, Osaka H, Matsumoto N, Ozaki N, Ohkawa Y, Oki S, Tsunoda T, Pitceathly RDS, Taketomi Y, Houlden H, Murakami M, Kato Y, Saitoh S. Nakamura Y, et al. Among authors: denomme pichon as. Brain. 2024 Nov 4;147(11):3949-3967. doi: 10.1093/brain/awae185. Brain. 2024. PMID: 39082157 Free PMC article.
Extending the clinical spectrum of X-linked Tonne-Kalscheuer syndrome (TOKAS): new insights from the fetal perspective.
Cuinat S, Quélin C, Effray C, Dubourg C, Le Bouar G, Cabaret-Dufour AS, Loget P, Proisy M, Sauvestre F, Sarreau M, Martin-Berenguer S, Beneteau C, Naudion S, Michaud V, Arveiler B, Trimouille A, Macé P, Sigaudy S, Glazunova O, Torrents J, Raymond L, Saint-Frison MH, Attié-Bitach T, Lefebvre M, Capri Y, Bourgon N, Thauvin-Robinet C, Tran Mau-Them F, Bruel AL, Vitobello A, Denommé-Pichon AS, Faivre L, Brehin AC, Goldenberg A, Patrier-Sallebert S, Perani A, Dauriat B, Bourthoumieu S, Yardin C, Marquet V, Barnique M, Fiorenza-Gasq M, Marey I, Tournadre D, Doumit R, Nugues F, Barakat TS, Bustos F, Jaillard S, Launay E, Pasquier L, Odent S. Cuinat S, et al. Among authors: denomme pichon as. J Med Genet. 2024 Aug 29;61(9):824-832. doi: 10.1136/jmg-2024-109854. J Med Genet. 2024. PMID: 38849204 Free PMC article.
86 results