Immunodeficiency-Associated Lymphoid Hyperplasia As a Cause of Intussusception in a Case of Activated PI3K-δ Syndrome

por Mettman, Daniel, Thiffault, Isabelle, Dinakar, Chitra, Saunders, Carol
Publicado 2017

A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

por Macintosh, Julia, Thiffault, Isabelle, Pastinen, Tomi, Sztriha, László, Bernard, Geneviève
Publicado 2023

Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report

por Chapleau, Alexandra, Boucher, Renée-Myriam, Pastinen, Tomi, Thiffault, Isabelle, Gould, Peter V., Bernard, Geneviève
Publicado 2023

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

por Chen, Xiao, Harting, John, Farrow, Emily, Thiffault, Isabelle, Kasperaviciute, Dalia, Hoischen, Alexander, Gilissen, Christian, Pastinen, Tomi, Eberle, Michael A.
Publicado 2023

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

por Potic, Ana, Perrier, Stefanie, Radovic, Tijana, Gavrilovic, Svetlana, Ostojic, Jelena, Tran, Luan T., Thiffault, Isabelle, Pastinen, Tomi, Schiffmann, Raphael, Bernard, Geneviève
Publicado 2023

Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing

por Thiffault, Isabelle, Atherton, Andrea, Heese, Bryce A., T. Abdelmoity, Ahmed, Pawar, Kailash, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Saunders, Carol
Publicado 2020

Clinical genome sequencing in an unbiased pediatric cohort

por Thiffault, Isabelle, Farrow, Emily, Zellmer, Lee, Berrios, Courtney, Miller, Neil, Gibson, Margaret, Caylor, Raymond, Jenkins, Janda, Faller, Deb, Soden, Sarah, Saunders, Carol
Publicado 2018

Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report

por Macintosh, Julia, Perrier, Stefanie, Pinard, Maxime, Tran, Luan T., Guerrero, Kether, Prasad, Chitra, Prasad, Asuri N., Pastinen, Tomi, Thiffault, Isabelle, Coulombe, Benoit, Bernard, Geneviève
Publicado 2023

Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease

por Thiffault, Isabelle, Zuccarelli, Britton, Welsh, Holly, Yuan, Xuan, Farrow, Emily, Zellmer, Lee, Miller, Neil, Soden, Sarah, Abdelmoity, Ahmed, Brodsky, Robert A., Saunders, Carol
Publicado 2017

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

por Cadieux-Dion, Maxime, Safina, Nicole P., Engleman, Kendra, Saunders, Carol, Repnikova, Elena, Raje, Nikita, Canty, Kristi, Farrow, Emily, Miller, Neil, Zellmer, Lee, Thiffault, Isabelle
Publicado 2018

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing

por Perrier, Stefanie, Guerrero, Kether, Tran, Luan T., Michell-Robinson, Mackenzie A., Legault, Geneviève, Brais, Bernard, Sylvain, Michel, Dorman, James, Demos, Michelle, Köhler, Wolfgang, Pastinen, Tomi, Thiffault, Isabelle, Bernard, Geneviève
Publicado 2023

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy

por Gutierrez, Mariana, Thiffault, Isabelle, Guerrero, Kether, Martos-Moreno, Gabriel Á., Tran, Luan T., Benko, William, van der Knaap, Marjo S., van Spaendonk, Rosalina M. L., Wolf, Nicole I., Bernard, Geneviève
Publicado 2015

A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes

por Thiffault, Isabelle, Saunders, Carol, Jenkins, Janda, Raje, Nikita, Canty, Kristi, Sharma, Mukta, Grote, Lauren, Welsh, Holly I, Farrow, Emily, Twist, Greyson, Miller, Neil, Zwick, David, Zellmer, Lee, Kingsmore, Stephen F, Safina, Nicole P
Publicado 2015

Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

por 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
Publicado 2016

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

por Job, Florian, Mizumoto, Shuji, Smith, Laurie, Couser, Natario, Brazil, Ashley, Saal, Howard, Patterson, Melanie, Gibson, Margaret I., Soden, Sarah, Miller, Neil, Thiffault, Isabelle, Saunders, Carol, Yamada, Shuhei, Hoffmann, Katrin, Sugahara, Kazuyuki, Farrow, Emily
Publicado 2016

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

por 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.
Publicado 2015

Retrospective analysis of NGS data in pediatric genetic cohort: detection of rare variants that may impact influenza and COVID-19 infection

por Thiffault, Isabelle, Farrow, Emily, Cohen, Ana, Zion, Tricia, Neal, Shelby, Cheung, Warren, Johnston, Jeffrey, Miller, Neil, Gibson, Margaret, Walter, Adam, Puckett, Laura, Posey, Nyshele, Nair, Annapoorna, McDonald, Brittany, Elfrink, Mary, Herd, Suzanne, Pastinen, Tomi
Publicado 2021

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

por Gauthier, Julie, Ouled Amar Bencheikh, Bouchra, Hamdan, Fadi F, Harrison, Steven M, Baker, Linda A, Couture, Françoise, Thiffault, Isabelle, Ouazzani, Reda, Samuels, Mark E, Mitchell, Grant A, Rouleau, Guy A, Michaud, Jacques L, Soucy, Jean- François
Publicado 2015

Clinical detection of deletion structural variants in whole-genome sequences

por Noll, Aaron C, Miller, Neil A, Smith, Laurie D, Yoo, Byunggil, Fiedler, Stephanie, Cooley, Linda D, Willig, Laurel K, Petrikin, Josh E, Cakici, Julie, Lesko, John, Newton, Angela, Detherage, Kali, Thiffault, Isabelle, Saunders, Carol J, Farrow, Emily G, Kingsmore, Stephen F
Publicado 2016

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

por Sommerville, Ewen W, Zhou, Xiao-Long, Oláhová, Monika, Jenkins, Janda, Euro, Liliya, Konovalova, Svetlana, Hilander, Taru, Pyle, Angela, He, Langping, Habeebu, Sultan, Saunders, Carol, Kelsey, Anna, Morris, Andrew A M, McFarland, Robert, Suomalainen, Anu, Gorman, Gráinne S, Wang, En-Duo, Thiffault, Isabelle, Tyynismaa, Henna, Taylor, Robert W
Publicado 2019