Search Results - Isabelle Thiffault
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Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report by Alexandra Chapleau, Alexandra Chapleau, Renée-Myriam Boucher, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Peter V. Gould, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard
Published in Frontiers in Cellular Neuroscience (2023-08-01)Get full text
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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 by Rishabh Gaur, John Herriges, Isabelle Thiffault, Julie Joyce, Eric Rush, Elena Repnikova
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P225: Efficacy of NGS testing for pediatric endocrine related disease by Joseph Alaimo, Florencia Del Viso, Vitoria Paolillo, Ana S.A. Cohen, Isabelle Thiffault, Carol Saunders
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report by Julia Macintosh, Julia Macintosh, Stefanie Perrier, Stefanie Perrier, Maxime Pinard, Luan T. Tran, Luan T. Tran, Kether Guerrero, Kether Guerrero, Chitra Prasad, Chitra Prasad, Chitra Prasad, Asuri N. Prasad, Asuri N. Prasad, Tomi Pastinen, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Benoit Coulombe, Benoit Coulombe, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard
Published in Frontiers in Neurology (2023-10-01)Get full text
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Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing by Stefanie Perrier, Stefanie Perrier, Kether Guerrero, Kether Guerrero, Luan T. Tran, Luan T. Tran, Mackenzie A. Michell-Robinson, Mackenzie A. Michell-Robinson, Geneviève Legault, Geneviève Legault, Geneviève Legault, Bernard Brais, Bernard Brais, Bernard Brais, Michel Sylvain, James Dorman, James Dorman, Michelle Demos, Wolfgang Köhler, Tomi Pastinen, Tomi Pastinen, Isabelle Thiffault, Isabelle Thiffault, Isabelle Thiffault, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard, Geneviève Bernard
Published in Frontiers in Neurology (2023-04-01)Get full text
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P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* by Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen
Published in Genetics in Medicine Open (2023-01-01)Get full text
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O37: One test fits all: Clinical HiFi sequencing for pediatric rare disease by Carol Saunders, Isabelle Thiffault, Cassandra Barrett, Joseph Alaimo, Charlie Bi, Margaret Gibson, Byunggil Yoo, Tomi Pastinen, Emily Farrow, Ana Cohen
Published in Genetics in Medicine Open (2025-01-01)Get full text
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O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? by Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations by Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen
Published in Genetics in Medicine Open (2024-01-01)Get full text
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P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center by Isabelle Thiffault, Joseph Alaimo, Vitoria Paolillo, Florencia Del Viso, Ana Cohen, Emily Farrow, Susan Starling, Maggie Humphrey, Caitlin Schwager, Lauren Bartik, Kendra Engleman, Laura Cross, Holly Welsh, Eric Rush, Shivarajan Amudhavalli, Bonnie Sullivan, Dihong Zhou, Elizabeth Shaffer, Waseem Baig, Lee Zellmer, Mary Rindler, Tricia Zion, Emelia Boillat, Tomi Pastinen, Carol Saunders, Isabelle Thiffault
Published in Genetics in Medicine Open (2023-01-01)Get full text
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Pangenome graphs improve the analysis of structural variants in rare genetic diseases by Cristian Groza, Carl Schwendinger-Schreck, Warren A. Cheung, Emily G. Farrow, Isabelle Thiffault, Juniper Lake, William B. Rizzo, Gilad Evrony, Tom Curran, Guillaume Bourque, Tomi Pastinen
Published in Nature Communications (2024-01-01)Get full text
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Complex trait associations in rare diseases and impacts on Mendelian variant interpretation by Craig Smail, Bing Ge, Marissa R. Keever-Keigher, Carl Schwendinger-Schreck, Warren A. Cheung, Jeffrey J. Johnston, Cassandra Barrett, Genomic Answers for Kids Consortium, Keith Feldman, Ana S. A. Cohen, Emily G. Farrow, Isabelle Thiffault, Elin Grundberg, Tomi Pastinen
Published in Nature Communications (2024-09-01)Get full text
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O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? by Emily Farrow, Carol Saunders, Margaret Gibson, Adam Walter, Ana S.A. Cohen, Joseph Alaimo, Tricia Zion, Charlie Bi, YuXin Zhou, Guil Bourque, Adam Johnson, Byunggil Yoo, Carl Schwendinger-Schreck, Jeff Johnston, Warren Cheung, Tomi Pastinen, Isabelle Thiffault
Published in Genetics in Medicine Open (2024-01-01)Get full text
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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing by Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M. Devaney, Jessica Noya, April S. Berlyoung, Rhonda Brandon, Kathleen S. Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman, Emily Farrow, Isabelle Thiffault, Tomi Pastinen, Dalia Kasperaviciute, Christian Gilissen, Lisenka Vissers, Alexander Hoischen, Seth Berger, Eric Vilain, Emmanuèle Délot, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Michael A. Eberle
Published in Nature Communications (2025-03-01)Get full text
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Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling by Michaela Bosakova, Sara P Abraham, Alexandru Nita, Eva Hruba, Marcela Buchtova, S Paige Taylor, Ivan Duran, Jorge Martin, Katerina Svozilova, Tomas Barta, Miroslav Varecha, Lukas Balek, Jiri Kohoutek, Tomasz Radaszkiewicz, Ganesh V Pusapati, Vitezslav Bryja, Eric T Rush, Isabelle Thiffault, Deborah A Nickerson, Michael J Bamshad, University of Washington Center for Mendelian Genomics, Rajat Rohatgi, Daniel H Cohn, Deborah Krakow, Pavel Krejci
Published in EMBO Molecular Medicine (2020-10-01)Get full text
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IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans. by Zeineb Bakey, Oscar A Cabrera, Julia Hoefele, Dinu Antony, Kaman Wu, Michael W Stuck, Dimitra Micha, Thibaut Eguether, Abigail O Smith, Nicole N van der Wel, Matias Wagner, Lara Strittmatter, Philip L Beales, Julie A Jonassen, Isabelle Thiffault, Maxime Cadieux-Dion, Laura Boyes, Saba Sharif, Beyhan Tüysüz, Desiree Dunstheimer, Hans W M Niessen, William Devine, Cecilia W Lo, Hannah M Mitchison, Miriam Schmidts, Gregory J Pazour
Published in PLoS Genetics (2023-06-01)Get full text
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Long-read sequencing is required for precision diagnosis of incontinentia pigmenti by Monica H. Wojcik, Robin D. Clark, Abdallah F. Elias, Casie A. Genetti, Jill A. Madden, Dana Simpson, Linda Golkar, Miranda P.G. Zalusky, Angela L. Miller, Araceli Rodriguez, Joy Goffena, Camille A. Dash, Nikhita Damaraju, Sophia B. Gibson, Sophie H.R. Storz, Zachary B. Anderson, Jonas A. Gustafson, Isabelle Thiffault, Emily G. Farrow, Tomi Pastinen, Jasmine Lin, Jennifer T. Huang, Alan H. Beggs, Pankaj B. Agrawal, David T. Miller, Danny E. Miller
Published in HGG Advances (2025-07-01)Get full text
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