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RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium. Lochmüller H, et al. Among authors: badowska dm. Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487416 Free PMC article.
The RD-Connect Registry & Biobank Finder: a tool for sharing aggregated data and metadata among rare disease researchers.
Gainotti S, Torreri P, Wang CM, Reihs R, Mueller H, Heslop E, Roos M, Badowska DM, de Paulis F, Kodra Y, Carta C, Martìn EL, Miller VR, Filocamo M, Mora M, Thompson M, Rubinstein Y, Posada de la Paz M, Monaco L, Lochmüller H, Taruscio D. Gainotti S, et al. Among authors: badowska dm. Eur J Hum Genet. 2018 May;26(5):631-643. doi: 10.1038/s41431-017-0085-z. Epub 2018 Feb 2. Eur J Hum Genet. 2018. PMID: 29396563 Free PMC article.
Modulation of cognition and neuronal plasticity in gain- and loss-of-function mouse models of the schizophrenia risk gene Tcf4.
Badowska DM, Brzózka MM, Kannaiyan N, Thomas C, Dibaj P, Chowdhury A, Steffens H, Turck CW, Falkai P, Schmitt A, Papiol S, Scheuss V, Willig KI, Martins-de-Souza D, Rhee JS, Malzahn D, Rossner MJ. Badowska DM, et al. Transl Psychiatry. 2020 Oct 9;10(1):343. doi: 10.1038/s41398-020-01026-7. Transl Psychiatry. 2020. PMID: 33037178 Free PMC article.