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Year Number of Results
2007 2
2008 3
2009 1
2010 3
2011 3
2012 1
2013 1
2014 2
2015 2
2016 2
2017 2
2018 1
2019 4
2020 7
2021 7
2022 6
2023 4
2024 5
2025 8
2026 4

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59 results

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Page 1
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Möller B, Becker LL, Saffari A, Afenjar A, Coci EG, Williamson R, Ward-Melver C, Gibaud M, Sedláčková L, Laššuthová P, Libá Z, Vlčková M, William N, Klee EW, Gavrilova RH, Lévy J, Capri Y, Scavina M, Körner RW, Valivullah Z, Weiß C, Möller GM, Frazier Z, Roberts A, Gener B, Scala M, Striano P, Zara F, Thiel M, Sinnema M, Kamsteeg EJ, Donkervoort S, Duboc V, Zaafrane-Khachnaoui K, Elkhateeb N, Selim L, Margot H, Marin V, Beneteau C, Isidor B, Cogne B, Keren B, Küsters B, Beggs AH, Sveden A, Chopra M, Genetti CA, Nicolai J, Dötsch J, Koy A, Bönnemann CG, von der Hagen M, von Kleist-Retzow JC, Voermans NC, Jungbluth H, Dafsari HS. Möller B, et al. Among authors: marin v. Brain. 2025 Feb 3;148(2):597-612. doi: 10.1093/brain/awae183. Brain. 2025. PMID: 38848546 Free PMC article.
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Nava C, Cogne B, Santini A, Leitão E, Lecoquierre F, Chen Y, Stenton SL, Besnard T, Heide S, Baer S, Jakhar A, Neuser S, Keren B, Faudet A, Forlani S, Faoucher M, Uguen K, Platzer K, Afenjar A, Alessandri JL, Andres S, Angelini C, Aral B, Arveiler B, Attie-Bitach T, Aubert Mucca M, Banneau G, Barakat TS, Barcia G, Baulac S, Beneteau C, Benkerdou F, Bernard V, Bézieau S, Bonneau D, Bonnet-Dupeyron MN, Boussion S, Boute O, Brischoux-Boucher E, Bryen SJ, Buratti J, Busa T, Caliebe A, Capri Y, Cassinari K, Caumes R, Cenni C, Chambon P, Charles P, Christodoulou J, Colson C, Conrad S, Cospain A, Coursimault J, Courtin T, Couse M, Coutton C, Creveaux I, D'Gama AM, Dauriat B, de Sainte Agathe JM, Del Gobbo G, Delahaye-Duriez A, Delanne J, Denommé-Pichon AS, Dieux-Coeslier A, Do Souto Ferreira L, Doco-Fenzy M, Drukewitz S, Duboc V, Dubourg C, Duffourd Y, Dyment D, El Chehadeh S, Elmaleh M, Faivre L, Fennelly S, Fischer H, Fradin M, Galludec Vaillant C, Ganne B, Ghoumid J, Goel H, Gokce-Samar Z, Goldenberg A, Gonfreville Robert R, Gorokhova S, Goujon L, Granier V, Gras M, Greally JM, Greiten B, Gueguen P, Guerrot AM, Guha S, Guimier A, Haack TB, Hadj Abdallah H, Halleb Y, Harbuz R, Harris M… See abstract for full author list ➔ Nava C, et al. Among authors: marin v. Nat Genet. 2025 Jun;57(6):1374-1388. doi: 10.1038/s41588-025-02184-4. Epub 2025 May 16. Nat Genet. 2025. PMID: 40379786 Free PMC article.
Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.
Karimi K, Lichtenstein Y, Reilly J, McConkey H, Relator R, Levy MA, Kerkhof J, Bouman A, Symonds JD, Ghoumid J, Smol T, Clarkson K, Drazba K, Louie RJ, Miranda V, McCann C, Motta J, Lancaster E, Sallevelt S, Sidlow R, Morrison J, Hannibal M, O'Shea J, Marin V, Prasad C, Patel C, Raskin S, Maria-Noelia SM, Diaz de Bustamante A, Marom D, Barkan T, Keren B, Poirsier C, Cohen L, Colin E, Gorman K, Gallant E, Menke LA, Valenzuela Palafoll I, Hauser N, Wentzensen IM, Rankin J, Turnpenny PD, Campeau PM, Balci TB, Tedder ML, Sadikovic B, Weiss K. Karimi K, et al. Among authors: marin v. Am J Hum Genet. 2025 Feb 6;112(2):414-427. doi: 10.1016/j.ajhg.2024.12.020. Epub 2025 Jan 16. Am J Hum Genet. 2025. PMID: 39824190 Free PMC article.
Characterization of a novel SERPINA1 variant carrying two missense mutations: molecular mechanisms and functional impact.
Leon C, Odou MF, Roquelaure B, Lebreton L, Ruiz M, Schneider CV, Renoux C, Evrard A, Balduyck M, Dechomet M, Lombard C, Butori-Pepino M, Schneider KM, Marin V, di-Tomasso S, Dourthe C, Dupuy JW, Raymond AA, Collardeau-Frachon S, Haffner A, Fritih R, Goubert E, Geromel V, Joly P, Fabre A, Bouchecareilh M. Leon C, et al. Among authors: marin v. Orphanet J Rare Dis. 2025 Nov 21;20(1):615. doi: 10.1186/s13023-025-04142-z. Orphanet J Rare Dis. 2025. PMID: 41272759 Free PMC article.
Single-cell multiplex approaches deeply map ON-target CRISPR-genotoxicity and reveal its mitigation by palbociclib and long-term engraftment.
Boutin J, Fayet S, Marin V, Bergès C, Riandière M, Toutain J, Lamrissi-Garcia I, Thibault C, Cappellen D, Dabernat S, Poulet A, Francillette M, Droin N, Debeissat C, Brunet de la Grange P, Moreau-Gaudry F, Bedel A. Boutin J, et al. Among authors: marin v. Nat Commun. 2026 Jan 10;17(1):1429. doi: 10.1038/s41467-025-68177-3. Nat Commun. 2026. PMID: 41519897 Free PMC article.
[The risk of biogenic amines in food].
Gomes MB, Pires BA, Fracalanzza SA, Marin VA. Gomes MB, et al. Among authors: marin va. Cien Saude Colet. 2014 Apr;19(4):1123-34. doi: 10.1590/1413-81232014194.18672012. Cien Saude Colet. 2014. PMID: 24820595 Free article. Review. Portuguese.
59 results