Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Berrios, Courtney, Hurley, Emily A., Willig, Laurel, Thiffault, Isabelle, Saunders, Carol, Pastinen, Tomi, Goggin, Kathy, Farrow, Emily
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Groza, Cristian, Schwendinger-Schreck, Carl, Cheung, Warren A., Farrow, Emily G., Thiffault, Isabelle, Lake, Juniper, Rizzo, William B., Evrony, Gilad, Curran, Tom, Bourque, Guillaume, Pastinen, Tomi
Published in Nature communications (22.01.2024)
Published in Nature communications (22.01.2024)
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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
Macintosh, Julia, Derksen, Alexa, Poulin, Chantal, Braverman, Nancy, Vanderver, Adeline, Thiffault, Isabelle, Albrecht, Steffen, Bernard, Geneviève
Published in Neurogenetics (01.04.2022)
Published in Neurogenetics (01.04.2022)
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Complex trait associations in rare diseases and impacts on Mendelian variant interpretation
Smail, Craig, Ge, Bing, Keever-Keigher, Marissa R., Schwendinger-Schreck, Carl, Cheung, Warren A., Johnston, Jeffrey J., Barrett, Cassandra, Feldman, Keith, Cohen, Ana S. A., Farrow, Emily G., Thiffault, Isabelle, Grundberg, Elin, Pastinen, Tomi
Published in Nature communications (18.09.2024)
Published in Nature communications (18.09.2024)
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Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report
Chapleau, Alexandra, Boucher, Renée-Myriam, Pastinen, Tomi, Thiffault, Isabelle, Gould, Peter V., Bernard, Geneviève
Published in Frontiers in cellular neuroscience (04.08.2023)
Published in Frontiers in cellular neuroscience (04.08.2023)
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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization
Thiffault, Isabelle, Speca, David J, Austin, Daniel C, Cobb, Melanie M, Eum, Kenneth S, Safina, Nicole P, Grote, Lauren, Farrow, Emily G, Miller, Neil, Soden, Sarah, Kingsmore, Stephen F, Trimmer, James S, Saunders, Carol J, Sack, Jon T
Published in The Journal of general physiology (01.11.2015)
Published in The Journal of general physiology (01.11.2015)
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Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature
Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T, Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Published in Orphanet journal of rare diseases (13.07.2023)
Published in Orphanet journal of rare diseases (13.07.2023)
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays
Ganapathi, Mythily, Matsuoka, Leticia S, March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M, Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M, Bramswig, Nuria C, Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P, Iglesias, Alejandro D, Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M, Thiffault, Isabelle, Cogan, Joy D, Gordon, Christopher T, Chung, Wendy K, Bowdin, Sarah, Bhoj, Elizabeth
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant
Thiffault, Isabelle, Farrow, Emily, Smith, Laurie, Lowry, Jennifer, Zellmer, Lee, Black, Benjamin, Abdelmoity, Ahmed, Miller, Neil, Soden, Sarah, Saunders, Carol
Published in American journal of medical genetics. Part A (01.06.2016)
Published in American journal of medical genetics. Part A (01.06.2016)
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Journal Article
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans
Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M, Li, Zhihong, Haueter, Claire, Shoubridge, Eric A, Graham, Brett H, Brais, Bernard, Bellen, Hugo J
Published in PLoS biology (01.03.2012)
Published in PLoS biology (01.03.2012)
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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans
Bakey, Zeineb, Cabrera, Oscar A, Hoefele, Julia, Antony, Dinu, Wu, Kaman, Stuck, Michael W, Micha, Dimitra, Eguether, Thibaut, Smith, Abigail O, van der Wel, Nicole N, Wagner, Matias, Strittmatter, Lara, Beales, Philip L, Jonassen, Julie A, Thiffault, Isabelle, Cadieux-Dion, Maxime, Boyes, Laura, Sharif, Saba, Tüysüz, Beyhan, Dunstheimer, Desiree, Niessen, Hans W M, Devine, William, Lo, Cecilia W, Mitchison, Hannah M, Schmidts, Miriam, Pazour, Gregory J
Published in PLoS genetics (14.06.2023)
Published in PLoS genetics (14.06.2023)
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Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing
Gallo, Vera, Dotta, Laura, Giardino, Giuliana, Cirillo, Emilia, Lougaris, Vassilios, D'Assante, Roberta, Prandini, Alberto, Consolini, Rita, Farrow, Emily G, Thiffault, Isabelle, Saunders, Carol J, Leonardi, Antonio, Plebani, Alessandro, Badolato, Raffaele, Pignata, Claudio
Published in Frontiers in immunology (07.11.2016)
Published in Frontiers in immunology (07.11.2016)
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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Cheung, Warren A., Johnson, Adam F., Rowell, William J., Farrow, Emily, Hall, Richard, Cohen, Ana S. A., Means, John C., Zion, Tricia N., Portik, Daniel M., Saunders, Christopher T., Koseva, Boryana, Bi, Chengpeng, Truong, Tina K., Schwendinger-Schreck, Carl, Yoo, Byunggil, Johnston, Jeffrey J., Gibson, Margaret, Evrony, Gilad, Rizzo, William B., Thiffault, Isabelle, Younger, Scott T., Curran, Tom, Wenger, Aaron M., Grundberg, Elin, Pastinen, Tomi
Published in Nature communications (29.05.2023)
Published in Nature communications (29.05.2023)
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Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report
Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Published in Frontiers in neurology (13.10.2023)
Published in Frontiers in neurology (13.10.2023)
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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Bruel, Ange-Line, Vitobello, Antonio, Thiffault, Isabelle, Manwaring, Linda, Willing, Marcia, Agrawal, Pankaj B, Bayat, Allan, Kitzler, Thomas M, Brownstein, Catherine A, Genetti, Casie A, Gonzalez-Heydrich, Joseph, Jayakar, Parul, Zyskind, Jacob W, Zhu, Zehua, Vachet, Clemence, Wilson, Gena R, Pruniski, Brianna, Goyette, Anne-Marie, Duffourd, Yannis, Thauvin-Robinet, Christel, Philippe, Christophe, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.01.2022)
Published in European journal of human genetics : EJHG (01.01.2022)
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P629: A novel 198 kb partial duplication in KMT2C: Report of a patient with features of Kleefstra syndrome-2 and adrenal ganglioneuroblastoma
Gaur, Rishabh, Herriges, John, Thiffault, Isabelle, Joyce, Julie, Rush, Eric, Repnikova, Elena
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Expanded phenotype of AARS1-related white matter disease
Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E. C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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