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46 results for Thiffault,+Isabelle

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Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care
Author / Creator:Berrios, Courtney ; Hurley, Emily A. ; Willig, Laurel ; Thiffault, Isabelle ; Saunders, Carol ; Pastinen, Tomi ; Goggin, Kathy ; Farrow, Emily
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2289-2299
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Pangenome graphs improve the analysis of structural variants in rare genetic diseases
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-01, Vol.15 (1), p.657-12, Article 657
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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration
Author / Creator:Macintosh, Julia ; Derksen, Alexa ; Poulin, Chantal ; Braverman, Nancy ; Vanderver, Adeline ; Thiffault, Isabelle ; Albrecht, Steffen ; Bernard, Geneviève
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neurogenetics, 2022-04, Vol.23 (2), p.151-156
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Complex trait associations in rare diseases and impacts on Mendelian variant interpretation
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-09, Vol.15 (1), p.8196-11, Article 8196
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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
Author / Creator: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
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2023-05, Vol.14 (1), p.3090-3090, Article 3090
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Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report
Author / Creator:Chapleau, Alexandra ; Boucher, Renée-Myriam ; Pastinen, Tomi ; Thiffault, Isabelle ; Gould, Peter V. ; Bernard, Geneviève
Publisher:Lausanne: Frontiers Research Foundation
Journal title:Frontiers in cellular neuroscience, 2023-08, Vol.17
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The Neuro Receives Donation of $500,000 to Fund the First National Bank Post-Doctoral Fellowship in Stem Cell Research
Publisher:Toronto: Intrado Digital Media Canada Inc
Journal title:Marketwire, 2009-06
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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
Author / Creator:Potic, Ana ; Perrier, Stefanie ; Radovic, Tijana ; Gavrilovic, Svetlana ; Ostojic, Jelena ; Tran, Luan T. ; Thiffault, Isabelle ; Pastinen, Tomi ; Schiffmann, Raphael ; Bernard, Geneviève
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.187-187, Article 187
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Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Author / Creator: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.
Publisher:United States: Public Library of Science
Journal title:PLoS biology, 2012-03, Vol.10 (3), p.e1001288-e1001288
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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum
Author / Creator: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
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2022-01, Vol.30 (1), p.111-116
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Expanded phenotype of AARS1-related white matter disease
Author / Creator: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.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-12, Vol.23 (12), p.2352-2359
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling
Author / Creator:Bosakova, Michaela ; Abraham, Sara P ; Nita, Alexandru ; Hruba, Eva ; Buchtova, Marcela ; Taylor, S Paige ; Duran, Ivan ; Martin, Jorge ; Svozilova, Katerina ; Barta, Tomas ; Varecha, Miroslav ; Balek, Lukas ; Kohoutek, Jiri ; Radaszkiewicz, Tomasz ; Pusapati, Ganesh V ; Bryja, Vitezslav ; Rush, Eric T ; Thiffault, Isabelle ; Nickerson, Deborah A ; Bamshad, Michael J ; Rohatgi, Rajat ; Cohn, Daniel H ; Krakow, Deborah ; Krejci, Pavel
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2020-11, Vol.12 (11), p.e11739-n/a
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Hypotonia and intellectual disability without dysmorphic features in a patient with PIGN-related disease
Author / Creator:Thiffault, Isabelle ; Zuccarelli, Britton ; Welsh, Holly ; Yuan, Xuan ; Farrow, Emily ; Zellmer, Lee ; Miller, Neil ; Soden, Sarah ; Abdelmoity, Ahmed ; Brodsky, Robert A. ; Saunders, Carol
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2017-11, Vol.18 (1), p.124-124, Article 124
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Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
Author / Creator: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
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2016-11, Vol.17 (1), p.86-86, Article 86
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Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report
Author / Creator:Cadieux-Dion, Maxime ; Safina, Nicole P. ; Engleman, Kendra ; Saunders, Carol ; Repnikova, Elena ; Raje, Nikita ; Canty, Kristi ; Farrow, Emily ; Miller, Neil ; Zellmer, Lee ; Thiffault, Isabelle
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-03, Vol.19 (1), p.41-41, Article 41
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Clinical genome sequencing in an unbiased pediatric cohort
Author / Creator:Thiffault, Isabelle ; Farrow, Emily ; Zellmer, Lee ; Berrios, Courtney ; Miller, Neil ; Gibson, Margaret ; Caylor, Raymond ; Jenkins, Janda ; Faller, Deb ; Soden, Sarah ; Saunders, Carol
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.303-310
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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases
Author / Creator:Miller, Neil A. ; Farrow, Emily G. ; Gibson, Margaret ; Willig, Laurel K. ; Twist, Greyson ; Yoo, Byunggil ; Marrs, Tyler ; Corder, Shane ; Krivohlavek, Lisa ; Walter, Adam ; Petrikin, Josh E. ; Saunders, Carol J. ; Thiffault, Isabelle ; Soden, Sarah E. ; Smith, Laurie D. ; Dinwiddie, Darrell L. ; Herd, Suzanne ; Cakici, Julie A. ; Catreux, Severine ; Ruehle, Mike ; Kingsmore, Stephen F.
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2015-09, Vol.7 (1), p.100-100, Article 100
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A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
Author / Creator:Macintosh, Julia ; Thiffault, Isabelle ; Pastinen, Tomi ; Sztriha, László ; Bernard, Geneviève
Publisher:Los Angeles, CA: SAGE Publications
Journal title:Child neurology open, 2023-01, Vol.10, p.2329048X231176673
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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Author / Creator:Thiffault, Isabelle ; Wolf, Nicole I. ; Forget, Diane ; Guerrero, Kether ; Tran, Luan T. ; Choquet, Karine ; Lavallée-Adam, Mathieu ; Poitras, Christian ; Brais, Bernard ; Yoon, Grace ; Sztriha, Laszlo ; Webster, Richard I. ; Timmann, Dagmar ; van de Warrenburg, Bart P. ; Seeger, Jürgen ; Zimmermann, Alíz ; Máté, Adrienn ; Goizet, Cyril ; Fung, Eva ; van der Knaap, Marjo S. ; Fribourg, Sébastien ; Vanderver, Adeline ; Simons, Cas ; Taft, Ryan J. ; Yates III, John R. ; Coulombe, Benoit ; Bernard, Geneviève
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-07, Vol.6 (1), p.7623-7623, Article 7623
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Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy
Author / Creator:Perrier, Stefanie ; Macintosh, Julia ; Misiaszek, Agata D. ; Lambert, Gabrielle ; Guerrero, Kether ; Tran, Luan T. ; Müller, Christoph W. ; Pastinen, Tomi ; Maegawa, Gustavo H. B. ; Thiffault, Isabelle ; Bernard, Geneviève
Publisher:United States: John Wiley & Sons, Inc
Journal title:Human mutation, 2024, Vol.2024 (1), p.8807171
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Showing 1 to 20 of 46 results

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Challenges in genetic testing: clinician variant interpretation processes and the impact on clinical care

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Pangenome graphs improve the analysis of structural variants in rare genetic diseases

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Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration

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Complex trait associations in rare diseases and impacts on Mendelian variant interpretation

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Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

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

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The Neuro Receives Donation of $500,000 to Fund the First National Bank Post-Doctoral Fellowship in Stem Cell Research

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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

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Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

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ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum

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Expanded phenotype of AARS1-related white matter disease

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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

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

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

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

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Clinical genome sequencing in an unbiased pediatric cohort

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A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

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A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy

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Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

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Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy

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