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

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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 por Rishabh Gaur, John Herriges, Isabelle Thiffault, Julie Joyce, Eric Rush, Elena Repnikova

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P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* por Xiao Chen, Egor Dolzhenko, Emily Farrow, Isabelle Thiffault, Alexander Hoischen, Tomi Pastinen, Michael Eberle

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P301: Pathogenic NOTCH1 variation displays a spectrum of cardiac and extra-cardiac anomalies por Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault

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P225: Efficacy of NGS testing for pediatric endocrine related disease por Joseph Alaimo, Florencia Del Viso, Vitoria Paolillo, Ana S.A. Cohen, Isabelle Thiffault, Carol Saunders

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

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

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

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P458: Evaluating the impact of long read genomes in rare disease: A systematic analysis of 1000 HiFi genomes* por Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

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O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? por Carol Saunders, Joseph Alaimo, Florencia Del Viso, Victoria Paolillo, Ana S.A. Cohen, John Herriges, Greg Marsh, Isabelle Thiffault, Emily Farrow

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P868: How many lost diagnoses? Addressing inequitable access to genomic testing for rare diseases in rural populations por Ana S.A. Cohen, Cassandra Barrett, Tricia Zion, Riley Moore, Emelia Boillat, Bradley Belden, Emily Farrow, Isabelle Thiffault, Courtney Berrios, Britton Zuccarelli, Tomi Pastinen

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

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P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center por 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

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

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

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O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? por 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

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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 M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen

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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing por 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

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

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

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