Ilaria Parenti
Bernecky Group
Novarino Group
4 Publications
2020 | Published | Journal Article | IST-REx-ID: 7877 | 
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
[Published Version]
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2020 | Published | Journal Article | IST-REx-ID: 7149
Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674
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| DOI
| WoS
| PubMed | Europe PMC
2020 | Published | Journal Article | IST-REx-ID: 7488 |
Latorre-Pellicer, Ana, Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences 21 (3). 2020
[Published Version]
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| Files available
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2020 | Published | Journal Article | IST-REx-ID: 7957 |
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
[Published Version]
View
| Files available
| DOI
| WoS
| PubMed | Europe PMC
Grants
4 Publications
2020 | Published | Journal Article | IST-REx-ID: 7877 |
Parenti I, Diab F, Gil SR, Mulugeta E, Casa V, Berutti R, Brouwer RWW, Dupé V, Eckhold J, Graf E, Puisac B, Ramos F, Schwarzmayr T, Gines MM, Van Staveren T, Van Ijcken WFJ, Strom TM, Pié J, Watrin E, Kaiser FJ, Wendt KS. 2020. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 31(7), 107647.
[Published Version]
View
| Files available
| DOI
| WoS
2020 | Published | Journal Article | IST-REx-ID: 7149
Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674
View
| DOI
| WoS
| PubMed | Europe PMC
2020 | Published | Journal Article | IST-REx-ID: 7488 |
Latorre-Pellicer, Ana, Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences 21 (3). 2020
[Published Version]
View
| Files available
| DOI
| WoS
2020 | Published | Journal Article | IST-REx-ID: 7957 |
Parenti I, Garcia Rabaneda LE, Schön H, Novarino G. Neurodevelopmental disorders: From genetics to functional pathways. Trends in Neurosciences. 2020;43(8):608-621. doi:10.1016/j.tins.2020.05.004
[Published Version]
View
| Files available
| DOI
| WoS
| PubMed | Europe PMC