Bi-allelic variants inWNT7Bdisrupt the development of multiple organs in humans

Autor: Samir Bouasker, Nisha Patel, Rebecca Greenlees, Diana Wellesley, Lucas Fares Taie, Naif A Almontashiri, Julia Baptista, Malak Ali Alghamdi, Sarah Boissel, Jelena Martinovic, Ivan Prokudin, Samantha Holden, Hardeep-Singh Mudhar, Lisa G Riley, Christina Nassif, Tania Attie-Bitach, Marguerite Miguet, Marion Delous, Sylvain Ernest, Julie Plaisancié, Patrick Calvas, Jean-Michel Rozet, Arif O Khan, Fadi F Hamdan, Robyn V Jamieson, Fowzan S Alkuraya, Jacques L Michaud, Nicolas Chassaing

Publikováno v: Journal of Medical Genetics. 60:294-300

BackgroundPulmonary hypoplasia, Diaphragmatic anomalies, Anophthalmia/microphthalmia and Cardiac defects delineate the PDAC syndrome. We aim to identify the cause of PDAC syndrome in patients who do not carry pathogenic variants inRARBandSTRA6, which

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5865d5b0d494dbbc030cc0570f79785f
https://doi.org/10.1136/jmedgenet-2022-108475

Automated sample-to-answer centrifugal microfluidic system for rapid molecular diagnostics of SARS-CoV-2

Autor: Lidija Malic, Daniel Brassard, Dillon Da Fonte, Christina Nassif, Maxence Mounier, André Ponton, Matthias Geissler, Matthew Shiu, Keith J. Morton, Teodor Veres

Publikováno v: Lab on a Chip. 22:3157-3171

Testing for SARS-CoV-2 is one of the most important assets in COVID-19 management and mitigation. At the onset of the pandemic, SARS-CoV-2 testing was uniquely performed in central laboratories using RT-qPCR. RT-qPCR relies on trained personnel opera

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03fea07982175541ca9f1e64cb23fb28
https://doi.org/10.1039/d2lc00242f

Multifunctional magnetic nanoparticle cloud assemblies for

Autor: Lucas, Poncelet, Lidija, Malic, Liviu, Clime, Matthias, Geissler, Keith J, Morton, Christina, Nassif, Dillon, Da Fonte, Gaétan, Veilleux, Teodor, Veres

Publikováno v: The Analyst. 146(24)

We investigate the formation of suspended magnetic nanoparticle (MNP) assemblies (M-clouds) and their use for

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d2d19ac605ef8a23aeda2e7b9756c147
https://pubmed.ncbi.nlm.nih.gov/34643195

Methylation specific multiplex droplet PCR using polymer droplet generator device for hematological diagnostics

Autor: Ljuboje Lukic, Mojra Janta, Christina Nassif, Alex Boutin, Abdelrahman Elmanzalawy, Dillon Da Fonte, Teodor Veres, Matthias Geissler, Jamal Daoud, Lidija Malic

A multiplexed droplet PCR (mdPCR) workflow and detailed protocol for determining epigenetic-based white blood cell (WBC) differential count is described, along with a thermoplastic elastomer (TPE) microfluidic droplet generation device. Epigenetic ma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c47828af37aade07356c00f63f7bdd3
https://doi.org/10.3791/61421

Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Autor: Jacques L. Michaud, Jessica Sebastian, Hanrong Wu, Dick Lindhout, Karla Manzano-Vargas, Nuwan C. Hettige, Ingrid M. Wentzensen, Huashan Peng, Amy Crunk, Heika Silviera, Malvin Jefri, Henry Houlden, Fadi F. Hamdan, Zahia Aouabed, Stephanie Efthymiou, Xin Zhang, Renske Oegema, Arnaud Tanti, Jerry Vockley, Gustavo Turecki, Julien van Gils, Amber G. Begtrup, Christina Nassif, Gunnar Houge, Naomichi Matsumoto, Thomas Bourgeron, Jean-François Théroux, Emily Fassi, Noriko Miyake, Robert D. Nicholls, Jose E. Martinez, Kristin Herman, Lilit Antonyan, Philippe M. Campeau, Margaret G. Au, Dominic Nelson, Vincenzo Salpietro, Scott C. Bell, Pierre Priam, Joshua L. Deignan, Gregory M. Cooper, Rune Østern, Han G. Brunner, Dagmar Huhle, Amy Goldstein, John M. Graham, Christine Coubes, Koen L.I. van Gassen, Tabib Dabir, Maria Hafström, Simon Gravel, Sophie Ehresmann, Elsa Rossignol, Ilaria Kolobova, Walla Al-Hertani, Julie A. Lessard, Lionel Carmant, Sonja Martin, Richard Delorme, Carl Ernst, Jolien S. Klein Wassink-Ruiter, Naguib Mechawar, Yoshio Makita, Candice R. Finnila, Rami Abou Jamra, Anne Lortie, Justine Rousseau, Sarju G. Mehta, Lina Ghaloul-Gonzalez

Publikováno v: American Journal of Human Genetics, 104, 5, pp. 815-834
American Journal of Human Genetics, 104(5), 815. Cell Press
American Journal of Human Genetics, 104(5), 815-834. Cell Press
American Journal of Human Genetics, 104, 815-834
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 104(5), 815-834. CELL PRESS

International audience; We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd69a3db8e881fea7dc94ed364dafd6d
https://hdl.handle.net/2066/203584