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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 6
2003 5
2004 4
2005 3
2006 3
2007 4
2008 3
2009 7
2010 7
2011 6
2012 8
2013 4
2014 9
2015 8
2016 9
2017 8
2018 8
2019 6
2020 4
2021 4
2022 4
2023 4
2024 2

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116 results

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Page 1
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
Robert T, Raymond L, Dancer M, Torrents J, Jourde-Chiche N, Burtey S, Béroud C, Mesnard L. Robert T, et al. Among authors: beroud c. Clin Kidney J. 2023 Apr 25;17(1):sfad099. doi: 10.1093/ckj/sfad099. eCollection 2024 Jan. Clin Kidney J. 2023. PMID: 38186885 Free PMC article.
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Mougel G, Mohamed A, Burnichon N, Giraud S, Pigny P, Bressac-de Paillerets B, Mirebeau-Prunier D, Buffet A, Savagner F, Romanet P, Arlot Y, Gardie B, Gimenez-Roqueplo AP, Beroud C, Richard S, Barlier A. Mougel G, et al. Among authors: beroud c. J Med Genet. 2024 Mar 21;61(4):378-384. doi: 10.1136/jmg-2023-109550. J Med Genet. 2024. PMID: 37979962 Review.
Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.
Robert T, Greillier S, Torrents J, Raymond L, Dancer M, Jourde-Chiche N, Halimi JM, Burtey S, Béroud C, Mesnard L. Robert T, et al. Among authors: beroud c. Kidney Int Rep. 2023 Jul 22;8(10):2077-2087. doi: 10.1016/j.ekir.2023.07.003. eCollection 2023 Oct. Kidney Int Rep. 2023. PMID: 37850010 Free PMC article.
Highlighting the Dystonic Phenotype Related to GNAO1.
Wirth T, Garone G, Kurian MA, Piton A, Millan F, Telegrafi A, Drouot N, Rudolf G, Chelly J, Marks W, Burglen L, Demailly D, Coubes P, Castro-Jimenez M, Joriot S, Ghoumid J, Belin J, Faucheux JM, Blumkin L, Hull M, Parnes M, Ravelli C, Poulen G, Calmels N, Nemeth AH, Smith M, Barnicoat A, Ewenczyk C, Méneret A, Roze E, Keren B, Mignot C, Beroud C, Acosta F Jr, Nowak C, Wilson WG, Steel D, Capuano A, Vidailhet M, Lin JP, Tranchant C, Cif L, Doummar D, Anheim M. Wirth T, et al. Among authors: beroud c. Mov Disord. 2022 Jul;37(7):1547-1554. doi: 10.1002/mds.29074. Epub 2022 Jun 20. Mov Disord. 2022. PMID: 35722775 Free PMC article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Among authors: beroud c. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie S, Piscia D, Matalonga L, Corvó A, Fernández-Callejo M, Garcia-Linares C, Hernandez-Ferrer C, Luengo C, Martínez I, Papakonstantinou A, Picó-Amador D, Protasio J, Thompson R, Tonda R, Bayés M, Bullich G, Camps-Puchadas J, Paramonov I, Trotta JR, Alonso A, Attimonelli M, Béroud C, Bros-Facer V, Buske OJ, Cañada-Pallarés A, Fernández JM, Hansson MG, Horvath R, Jacobsen JOB, Kaliyaperumal R, Lair-Préterre S, Licata L, Lopes P, López-Martín E, Mascalzoni D, Monaco L, Pérez-Jurado LA, Posada de la Paz M, Rambla J, Rath A, Riess O, Robinson PN, Salgado D, Smedley D, Spalding D, 't Hoen PAC, Töpf A, Zaharieva I, Graessner H, Gut IG, Lochmüller H, Beltran S. Laurie S, et al. Among authors: beroud c. Hum Mutat. 2022 Jun;43(6):717-733. doi: 10.1002/humu.24353. Hum Mutat. 2022. PMID: 35178824 Free PMC article.
Standardisation of pathogenicity classification for somatic alterations in solid tumours and haematologic malignancies.
Koeppel F, Muller E, Harlé A, Guien C, Sujobert P, Trabelsi Grati O, Kosmider O, Miguet L, Mauvieux L, Cayre A, Salgado D, Preudhomme C, Karayan-Tapon L, Tachon G, Coulet F, Lespagnol A, Beroud C, Leroy K, Rouleau E, Soubeyran I. Koeppel F, et al. Among authors: beroud c. Eur J Cancer. 2021 Dec;159:1-15. doi: 10.1016/j.ejca.2021.08.047. Epub 2021 Oct 23. Eur J Cancer. 2021. PMID: 34700215
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S, Haberlova J, Castiglioni C, Vissing J, Munell F, Rivier F, Stojkovic T, Malfatti E, Gómez García de la Banda M, Tasca G, Costa Comellas L, Benezit A, Amthor H, Dabaj I, Gontijo Camelo C, Laforêt P, Rendu J, Romero NB, Cavassa E, Fattori F, Beroud C, Zídková J, Leboucq N, Løkken N, Sanchez-Montañez Á, Ortega X, Kynčl M, Metay C, Gómez-Andrés D, Carlier RY. Quijano-Roy S, et al. Among authors: beroud c. J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24. J Neurol. 2022. PMID: 34559299
116 results