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Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage.
McNeilly S, Thomson CR, Gonzalez-Trueba L, Sin YY, Granata A, Hamilton G, Lee M, Boland E, McClure JD, Lumbreras-Perales C, Aman A, Kumar AA, Cantini M, Gök C, Graham D, Tomono Y, Anderson CD, Lu Y, Smith C, Markus HS, Abramowicz M, Vilain C, Al-Shahi Salman R, Salmeron-Sanchez M, Hainsworth AH, Fuller W, Kadler KE, Bulleid NJ, Van Agtmael T. McNeilly S, et al. Among authors: abramowicz m. EBioMedicine. 2024 Sep;107:105315. doi: 10.1016/j.ebiom.2024.105315. Epub 2024 Aug 30. EBioMedicine. 2024. PMID: 39216230 Free PMC article.
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases.
Al-Thani M, Goodwin-Trotman M, Bell S, Patel K, Fleming LK, Vilain C, Abramowicz M, Allan SM, Wang T, Cader MZ, Horsburgh K, Van Agtmael T, Sinha S, Markus HS, Granata A. Al-Thani M, et al. Among authors: abramowicz m. Stem Cell Reports. 2023 Dec 12;18(12):2386-2399. doi: 10.1016/j.stemcr.2023.10.014. Epub 2023 Nov 16. Stem Cell Reports. 2023. PMID: 37977146 Free PMC article.
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.
The WHO genomics program of work for equitable implementation of human genomics for global health.
Ambrosino E, Abou Tayoun AN, Abramowicz M, Zilfalil BA, Boughtwood T, Hamdi Y, Hubbard T, Kato K, Lopes-Cendes I, Majumder PP, Mascalzoni D, Ndiaye R, Ramsay M, Repetto GM, Shotelersuk V, Taylor S, Reeder JC, Ross AL. Ambrosino E, et al. Among authors: abramowicz m. Nat Med. 2024 Oct;30(10):2711-2713. doi: 10.1038/s41591-024-03225-x. Nat Med. 2024. PMID: 39227441 No abstract available.
SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland.
Kraemer D, Terumalai D, Famiglietti ML, Filges I, Joset P, Koller S, Maurer F, Meier S, Nouspikel T, Sanz J, Zweier C, Abramowicz M, Berger W, Cichon S, Schaller A, Superti-Furga A, Barbié V, Rauch A. Kraemer D, et al. Among authors: abramowicz m. J Pers Med. 2024 Jun 17;14(6):648. doi: 10.3390/jpm14060648. J Pers Med. 2024. PMID: 38929869 Free PMC article.
Enhancing fetal outcomes in GCK-MODY pregnancies: a precision medicine approach via non-invasive prenatal GCK mutation detection.
Schwitzgebel VM, Blouin JL, Dehos B, Köhler-Ballan B, Puder JJ, Rieubland C, Triantafyllidou M, Zanchi A, Abramowicz M, Nouspikel T. Schwitzgebel VM, et al. Among authors: abramowicz m. Front Med (Lausanne). 2024 Apr 30;11:1347290. doi: 10.3389/fmed.2024.1347290. eCollection 2024. Front Med (Lausanne). 2024. PMID: 38745742 Free PMC article.
260 results