De novo mutations in moderate or severe intellectual disability
Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.
Published in Genetics in medicine (01.07.2018)
Published in Genetics in medicine (01.07.2018)
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Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Srour, Myriam, Hamdan, Fadi F., McKnight, Dianalee, Davis, Erica, Mandel, Hanna, Schwartzentruber, Jeremy, Martin, Brissa, Patry, Lysanne, Nassif, Christina, Dionne-Laporte, Alexandre, Ospina, Luis H., Lemyre, Emmanuelle, Massicotte, Christine, Laframboise, Rachel, Maranda, Bruno, Labuda, Damian, Décarie, Jean-Claude, Rypens, Françoise, Goldsher, Dorith, Fallet-Bianco, Catherine, Soucy, Jean-François, Laberge, Anne-Marie, Maftei, Catalina, Boycott, Kym, Brais, Bernard, Boucher, Renée-Myriam, Rouleau, Guy A., Katsanis, Nicholas, Majewski, Jacek, Elpeleg, Orly, Kukolich, Mary K., Shalev, Stavit, Michaud, Jacques L.
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
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Functional Divergence between Co-chaperones of Hsc70
Tzankov, Stefan, Wong, Michael J.H., Shi, Kun, Nassif, Christina, Young, Jason C.
Published in The Journal of biological chemistry (03.10.2008)
Published in The Journal of biological chemistry (03.10.2008)
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Sample-to-answer centrifugal microfluidic droplet PCR platform for quantitation of viral load
Malic, Lidija, Clime, Liviu, Moon, Byeong-Ui, Nassif, Christina, Da Fonte, Dillon, Brassard, Daniel, Lukic, Ljuboje, Geissler, Matthias, Morton, Keith, Charlebois, Denis, Veres, Teodor
Published in Lab on a chip (09.10.2024)
Published in Lab on a chip (09.10.2024)
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Automated sample-to-answer centrifugal microfluidic system for rapid molecular diagnostics of SARS-CoV-2
Malic, Lidija, Brassard, Daniel, Da Fonte, Dillon, Nassif, Christina, Mounier, Maxence, Ponton, André, Geissler, Matthias, Shiu, Matthew, Morton, Keith J, Veres, Teodor
Published in Lab on a chip (23.08.2022)
Published in Lab on a chip (23.08.2022)
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On-the-Fly Phase Transition and Density Changes of Aqueous Two-Phase Systems on a Centrifugal Microfluidic Platform
Moon, Byeong-Ui, Clime, Liviu, Hernandez-Castro, Javier Alejandro, Brassard, Daniel, Nassif, Christina, Malic, Lidija, Veres, Teodor
Published in Langmuir (11.01.2022)
Published in Langmuir (11.01.2022)
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Centrifugal microfluidic system for colorimetric sample-to-answer detection of viral pathogens
Geissler, Matthias, Brassard, Daniel, Adam, Nadine, Nasheri, Neda, Pilar, Ana Victoria C, Tapp, Kyle, Clime, Liviu, Miville-Godin, Caroline, Mounier, Maxence, Nassif, Christina, Lukic, Ljuboje, Malic, Lidija, Corneau, Nathalie, Veres, Teodor
Published in Lab on a chip (13.02.2024)
Published in Lab on a chip (13.02.2024)
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Multifunctional magnetic nanoparticle cloud assemblies for in situ capture of bacteria and isolation of microbial DNA
Poncelet, Lucas, Malic, Lidija, Clime, Liviu, Geissler, Matthias, Morton, Keith J, Nassif, Christina, Da Fonte, Dillon, Veilleux, Gaétan, Veres, Teodor
Published in Analyst (London) (06.12.2021)
Published in Analyst (London) (06.12.2021)
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Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Bell, Scott, Rousseau, Justine, Peng, Huashan, Aouabed, Zahia, Priam, Pierre, Theroux, Jean-Francois, Jefri, Malvin, Tanti, Arnaud, Wu, Hanrong, Kolobova, Ilaria, Silviera, Heika, Manzano-Vargas, Karla, Ehresmann, Sophie, Hamdan, Fadi F., Hettige, Nuwan, Zhang, Xin, Antonyan, Lilit, Nassif, Christina, Ghaloul-Gonzalez, Lina, Sebastian, Jessica, Vockley, Jerry, Begtrup, Amber G., Wentzensen, Ingrid M., Crunk, Amy, Nicholls, Robert D., Herman, Kristin C., Deignan, Joshua L., Al-Hertani, Walla, Efthymiou, Stephanie, Salpietro, Vincenzo, Miyake, Noriko, Makita, Yoshio, Matsumoto, Naomichi, Østern, Rune, Houge, Gunnar, Hafström, Maria, Fassi, Emily, Houlden, Henry, Klein Wassink-Ruiter, Jolien S., Nelson, Dominic, Goldstein, Amy, Dabir, Tabib, van Gils, Julien, Bourgeron, Thomas, Delorme, Richard, Cooper, Gregory M., Martinez, Jose E., Finnila, Candice R., Carmant, Lionel, Lortie, Anne, Oegema, Renske, van Gassen, Koen, Mehta, Sarju G., Huhle, Dagmar, Abou Jamra, Rami, Martin, Sonja, Brunner, Han G., Lindhout, Dick, Au, Margaret, Graham, John M., Coubes, Christine, Turecki, Gustavo, Gravel, Simon, Mechawar, Naguib, Rossignol, Elsa, Michaud, Jacques L., Lessard, Julie, Ernst, Carl, Campeau, Philippe M.
Published in American journal of human genetics (02.05.2019)
Published in American journal of human genetics (02.05.2019)
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Journal Article
Dysfunction of the Cerebral Glucose Transporter SLC45A1 in Individuals with Intellectual Disability and Epilepsy
Srour, Myriam, Shimokawa, Noriaki, Hamdan, Fadi F., Nassif, Christina, Poulin, Chantal, Al Gazali, Lihadh, Rosenfeld, Jill A., Koibuchi, Noriyuki, Rouleau, Guy A., Al Shamsi, Aisha, Michaud, Jacques L.
Published in American journal of human genetics (04.05.2017)
Published in American journal of human genetics (04.05.2017)
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Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans
Bouasker, Samir, Patel, Nisha, Greenlees, Rebecca, Wellesley, Diana, Fares Taie, Lucas, Almontashiri, Naif A, Baptista, Julia, Alghamdi, Malak Ali, Boissel, Sarah, Martinovic, Jelena, Prokudin, Ivan, Holden, Samantha, Mudhar, Hardeep-Singh, Riley, Lisa G, Nassif, Christina, Attie-Bitach, Tania, Miguet, Marguerite, Delous, Marion, Ernest, Sylvain, Plaisancié, Julie, Calvas, Patrick, Rozet, Jean-Michel, Khan, Arif O, Hamdan, Fadi F, Jamieson, Robyn V, Alkuraya, Fowzan S, Michaud, Jacques L, Chassaing, Nicolas
Published in Journal of medical genetics (01.03.2023)
Published in Journal of medical genetics (01.03.2023)
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Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disorders
Jobling, Rebekah, Stavropoulos, Dimitri James, Marshall, Christian R, Cytrynbaum, Cheryl, Axford, Michelle M, Londero, Vanessa, Moalem, Sharon, Orr, Jennifer, Rossignol, Francis, Lopes, Fatima Daniela, Gauthier, Julie, Alos, Nathalie, Rupps, Rosemarie, McKinnon, Margaret, Adam, Shelin, Nowaczyk, Malgorzata J M, Walker, Susan, Scherer, Stephen W, Nassif, Christina, Hamdan, Fadi F, Deal, Cheri L, Soucy, Jean-François, Weksberg, Rosanna, Macleod, Patrick, Michaud, Jacques L, Chitayat, David
Published in Journal of medical genetics (01.05.2018)
Published in Journal of medical genetics (01.05.2018)
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Journal Article
A novel homozygous AP4B1 mutation in two brothers with AP‐4 deficiency syndrome and ocular anomalies
Accogli, Andrea, Hamdan, Fadi F., Poulin, Chantal, Nassif, Christina, Rouleau, Guy A., Michaud, Jacques L., Srour, Myriam
Published in American journal of medical genetics. Part A (01.04.2018)
Published in American journal of medical genetics. Part A (01.04.2018)
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Journal Article
Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies
Brue, Thierry, Quentien, Marie-Hélène, Khetchoumian, Konstantin, Bensa, Marco, Capo-Chichi, José-Mario, Delemer, Brigitte, Balsalobre, Aurelio, Nassif, Christina, Papadimitriou, Dimitris T, Pagnier, Anne, Hasselmann, Caroline, Patry, Lysanne, Schwartzentruber, Jeremy, Souchon, Pierre-François, Takayasu, Shinobu, Enjalbert, Alain, Van Vliet, Guy, Majewski, Jacek, Drouin, Jacques, Samuels, Mark E
Published in BMC genetics (19.12.2014)
Published in BMC genetics (19.12.2014)
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Journal Article
Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria
Capo-Chichi, José-Mario, Boissel, Sarah, Brustein, Edna, Pickles, Sarah, Fallet-Bianco, Catherine, Nassif, Christina, Patry, Lysanne, Dobrzeniecka, Sylvia, Liao, Meijiang, Labuda, Damian, Samuels, Mark E, Hamdan, Fadi F, Velde, Christine Vande, Rouleau, Guy A, Drapeau, Pierre, Michaud, Jacques L
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Journal Article
Methylation Specific Multiplex Droplet PCR using Polymer Droplet Generator Device for Hematological Diagnostics
Malic, Lidija, Elmanzalawy, Abdelrahman, Daoud, Jamal, Geissler, Matthias, Boutin, Alex, Lukic, Ljuboje, Janta, Mojra, Da Fonte, Dillon, Nassif, Christina, Veres, Teodor
Published in Journal of visualized experiments (29.06.2020)
Published in Journal of visualized experiments (29.06.2020)
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Journal Article
Methylation Specific Multiplex Droplet PCR using Polymer Droplet Generator Device for Hematological Diagnostics
Malic, Lidija, Elmanzalawy, Abdelrahman, Daoud, Jamal, Geissler, Matthias, Boutin, Alex, Lukic, Ljuboje, Janta, Mojra, Da Fonte, Dillon, Nassif, Christina, Veres, Teodor
Published in Journal of visualized experiments (29.06.2020)
Published in Journal of visualized experiments (29.06.2020)
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Journal Article
De Novo Mutations in Moderate or Severe Intellectual Disability: e1004772
Hamdan, Fadi F, Srour, Myriam, Capo-Chichi, Jose-Mario, Daoud, Hussein, Nassif, Christina, Patry, Lysanne, Massicotte, Christine, Ambalavanan, Amirthagowri, Spiegelman, Dan, Diallo, Ousmane, Henrion, Edouard, Dionne-Laporte, Alexandre, Fougerat, Anne, Pshezhetsky, Alexey V, Venkateswaran, Sunita, Rouleau, Guy A, Michaud, Jacques L
Published in PLoS genetics (01.10.2014)
Published in PLoS genetics (01.10.2014)
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