Resultados de procura - Isabelle Thiffault

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  1. 1
    A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia

    A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia por Florin Sasarman, Tamiko Nishimura, Isabelle Thiffault, Eric A. Shoubridge

    Publicado 2012
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  2. 2
    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

    Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing por Xiao Chen, John Harting, Emily Farrow, Isabelle Thiffault, Dalia Kasperavičiūtė, Alexander Hoischen, Christian Gilissen, Tomi Pastinen, Michael A. Eberle

    Publicado 2023
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  3. 3
    Clinical genome sequencing in an unbiased pediatric cohort

    Clinical genome sequencing in an unbiased pediatric cohort por Isabelle Thiffault, Emily Farrow, Lee Zellmer, Courtney Berrios, Neil Miller, Margaret Gibson, Raymond Caylor, Janda Jenkins, Deb Faller, Sarah Soden, Carol Saunders

    Publicado 2018
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  4. 4
    Pangenome graphs improve the analysis of structural variants in rare genetic diseases

    Pangenome graphs improve the analysis of structural variants in rare genetic diseases por Cristian Groza, Carl Schwendinger-Schreck, Warren Cheung, Emily Farrow, Isabelle Thiffault, Juniper A. Lake, William B. Rizzo, Gilad D. Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen

    Publicado 2024
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  5. 5
    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria

    CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria por Carol Saunders, Laurie D. Smith, Flemming Wibrand, Kirstine Ravn, Peter Bross, Isabelle Thiffault, Mette Christensen, Andrea M. Atherton, Emily Farrow, Neil Miller, Stephen F. Kingsmore, Elsebet Østergaard

    Publicado 2015
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  6. 6
    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing

    Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing por Vera Gallo, Laura Dotta, Giuliana Giardino, Emilia Cirillo, Vassilios Lougaris, Roberta D’Assante, Alberto Prandini, Rita Consolini, Emily Farrow, Isabelle Thiffault, Carol Saunders, Antonio Leonardi, Alessandro Plebani, Raffaele Badolato, Claudio Pignata

    Publicado 2016
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  7. 7
    The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1

    The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1 por Florin Sasarman, Isabelle Thiffault, Woranontee Weraarpachai, Steven Salomon, Catalina Maftei, Julie D. Gauthier, Benjamin Ellazam, Neil Webb, Hana Antonická, Alexandre Janer, Catherine Brunel‐Guitton, Orly Elpeleg, Grant A. Mitchell, Eric A. Shoubridge

    Publicado 2015
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  8. 8
    A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization

    A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localization por Isabelle Thiffault, David J. Speca, Daniel C. Austin, Melanie M. Cobb, Kenneth S. Eum, Nicole P. Safina, Lauren Grote, Emily Farrow, Neil Miller, Sarah Soden, Stephen F. Kingsmore, James S. Trimmer, Carol Saunders, Jon T. Sack

    Publicado 2015
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  9. 9
    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome por Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell, Guy A. Rouleau, Jacques L. Michaud, J.‐F. Soucy

    Publicado 2014
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  10. 10
    Clinical detection of deletion structural variants in whole-genome sequences

    Clinical detection of deletion structural variants in whole-genome sequences por Aaron Noll, Neil Miller, Laurie D. Smith, Byunggil Yoo, Stephanie D. Fiedler, Linda D. Cooley, Laurel K. Willig, Josh E Petrikin, Julie A. Cakici, J G Lesko, Angela E. Newton, Kali Detherage, Isabelle Thiffault, Carol Saunders, Emily Farrow, Stephen F. Kingsmore

    Publicado 2016
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  11. 11
    Diversity of ARSACS Mutations in French-Canadians

    Diversity of ARSACS Mutations in French-Canadians por Isabelle Thiffault, Marie‐Josée Dicaire, Martine Tétreault, Kaichi Huang, Julie Demers-Lamarche, Geneviève Bernard, Antoine Duquette, Roxanne Larivière, Kalle Gehring, Alexandre Montpetit, Peter S. McPherson, Andréa Richter, Laura Montermini, Julien Mercier, Grant A. Mitchell, Nicolas Dupré, Claude Prévost, J.P. Bouchard, Jean Mathieu, Bernard Brais

    Publicado 2013
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  12. 12
    The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

    The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants por Josh E Petrikin, Julie A. Cakici, Michelle M. Clark, Laurel K. Willig, Nathaly M. Sweeney, Emily Farrow, Carol Saunders, Isabelle Thiffault, Neil Miller, Lee Zellmer, Suzanne Herd, Anne Holmes, Serge Batalov, Narayanan Veeraraghavan, Laurie D. Smith, David Dimmock, J. Steven Leeder, Stephen F. Kingsmore

    Publicado 2018
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  13. 13
    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans por Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie‐Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean‐Pierre Bouchard, Marie‐France Rioux, Charles Marques Lourenço, Zhihong Li, Claire Haueter, Eric A. Shoubridge, Brett H. Graham, Bernard Brais, Hugo J. Bellen

    Publicado 2012
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  14. 14
    Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy

    Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy por Marisa I. Mendes, Mariana Salazar, Kether Guerrero, Isabelle Thiffault, Gajja S. Salomons, Laurence Gauquelin, Luan T. Tran, Diane Forget, Marie-Soleil Gauthier, Quinten Waisfisz, Desirée E.C. Smith, Cas Simons, Marjo S. van der Knaap, Iris Marquardt, Aída Lemes, Hanna Mierzewska, Bernhard Weschke, Wolfgang Koehler, Benoit Coulombe, Nicole I. Wolf, Geneviève Bernard

    Publicado 2018
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  15. 15
    A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

    A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases por Neil Miller, Emily Farrow, Margaret Gibson, Laurel K. Willig, Greyson P Twist, Byunggil Yoo, T. C. Marrs, Shane Corder, Lisa Ann Krivohlavek, Adam Walter, Josh E Petrikin, Carol Saunders, Isabelle Thiffault, Sarah Soden, Laurie D. Smith, Darrell L. Dinwiddie, Suzanne Herd, Julie A. Cakici, Severine Catreux, Mike Ruehle, Stephen F. Kingsmore

    Publicado 2015
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  16. 16
    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene

    Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (<i>TRIT1</i> ) gene por Kristin D. Kernohan, David A. Dyment, Mihaela Pupavac, Zvi Cramer, Arran McBride, Geneviève Bernard, Isabella R. Straub, Martine Tétreault, Taila Hartley, Lijia Huang, Erick Sell, Jacek Majewski, David S. Rosenblatt, Eric A. Shoubridge, Aziz Mhanni, Tara Myers, Virginia K. Proud, S. Schrier Vergano, Brooke Spangler, Emily Farrow, Jennifer Kussman, Nicole P. Safina, Carol Saunders, Kym M. Boycott, Isabelle Thiffault

    Publicado 2017
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  17. 17
    Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings

    Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings por Laurel K. Willig, Josh E Petrikin, Laurie D. Smith, Carol Saunders, Isabelle Thiffault, Neil Miller, Sarah Soden, Julie A. Cakici, Suzanne Herd, Greyson P Twist, Aaron Noll, Mitchell Creed, Patria Alba, Shannon L. Carpenter, Mark A. Clements, Ryan T. Fischer, J. Allyson Hays, Howard W. Kilbride, Ryan McDonough, Jamie L. Rosterman, Sarah L. Tsai, Lee Zellmer, Emily Farrow, Stephen F. Kingsmore

    Publicado 2015
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  18. 18
    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing

    Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing por Johanna Schmidt, Amy Pizzino, Jessica Nicholl, Allison Foley, Yue Wang, Jill A. Rosenfeld, Lindsey Mighion, Lora Jh Bean, Cristina da Silva, Megan T. Cho, Rebecca Truty, John Garcia, Virginia Speare, Kirsten Blanco, Zöe Powis, Grace M. Hobson, Susan M. Kirwin, Bryan L. Krock, Hane Lee, Joshua L. Deignan, Maggie Westemeyer, Ryan Subaran, Isabelle Thiffault, Ellen Tsai, Terry Fang, Guy Helman, Adeline Vanderver

    Publicado 2020
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  19. 19
    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

    Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort por Warren Cheung, Adam F. Johnson, William J. Rowell, Emily Farrow, Richard Hall, Ana S.A. Cohen, John C. Means, Tricia Zion, Daniel M. Portik, Christopher T. Saunders, Boryana Koseva, Chengpeng Bi, Tina K. Truong, Carl Schwendinger-Schreck, Byunggil Yoo, Jeffrey Johnston, Margaret Gibson, Gilad D. Evrony, William B. Rizzo, Isabelle Thiffault, Scott T. Younger, Tom Curran, Aaron M. Wenger, Elin Grundberg, Tomi Pastinen

    Publicado 2023
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  20. 20
    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation

    Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation por Shreyas Bhat, Justine Rousseau, Coralie Michaud, Charles Marques Lourenço, Joan M. Stoler, Raymond J. Louie, L. Kate Clarkson, Angie Lichty, Daniel C. Koboldt, Shalini C. Reshmi, Sanjay M. Sisodiya, Eva M. M. Hoytema van Konijnenburg, Klaas Koop, Peter M. van Hasselt, Florence Démurger, Christèle Dubourg, Bonnie Sullivan, Susan Hughes, Isabelle Thiffault, Elisabeth Simard Tremblay, Andrea Accogli, Myriam Srour, Rikard Blunck, Philippe M. Campeau

    Publicado 2024
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