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

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

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Phosphodiesterase Type 4D Gene Polymorphism: Association with the Response to Short-Acting Bronchodilators in Paediatric Asthma Patients by Malgorzata Labuda, Sophie Laberge, Julie Brière, Denis Bérubé, Patrick Beaulieu, Tomi Pastinen, Maja Krajinovic

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Accuracy of Programs for the Determination of Human Leukocyte Antigen Alleles from Next-Generation Sequencing Data by Antti Larjo, Robert Eveleigh, Elina Kilpeläinen, Tony Kwan, Tomi Pastinen, Satu Koskela, Jukka Partanen

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Novel insights into systemic autoimmune rheumatic diseases using shared molecular signatures and an integrative analysis by Marie Hudson, Sasha Bernatsky, Ines Colmegna, Maximilien Lora, Tomi Pastinen, Kathleen Klein Oros, Celia M. T. Greenwood

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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

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Effects of Prior Infection with SARS-CoV-2 on B Cell Receptor Repertoire Response during Vaccination by Elizabeth R. Fraley, Santosh Khanal, Stephen H. Pierce, Cas A. LeMaster, Rebecca McLennan, Tomi Pastinen, Todd Bradley

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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 by 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* by Emily Farrow, Isabelle Thiffault, Ana Cohen, Tricia Zion, Adam Walter, Margaret Gibson, Chengpeng Bi, Warren Cheung, Jeffrey Johnston, Tomi Pastinen

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Black community member perceptions and ethics recommendations on epigenomic research by Courtney Berrios, Tammy Basey, Andrea Bradley-Ewing, Stacey Daniels-Young, Daysha Lewis, Keith Feldman, Mary E. Moffatt, Tomi Pastinen, Elin Grundberg

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IRF7 and UNC93B1 variants in an infant with recurrent herpes simplex virus infection by Megan H. Tucker, Wei Yu, Heather Menden, Sheng Xia, Carl F. Schreck, Margaret Gibson, Daniel Louiselle, Tomi Pastinen, Nikita Raje, Venkatesh Sampath

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Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing by Marissa R. Keever-Keigher, Lisa Harvey, Veronica Williams, Carrie A. Vyhlidal, Atif A. Ahmed, Jeffery J. Johnston, Daniel A. Louiselle, Elin Grundberg, Elin Grundberg, Tomi Pastinen, Tomi Pastinen, Craig A. Friesen, Craig A. Friesen, Rachel Chevalier, Rachel Chevalier, Craig Smail, Craig Smail, Valentina Shakhnovich, Valentina Shakhnovich, Valentina Shakhnovich

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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

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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

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Brief Report: Homozygous BUB1B Mutation and Susceptibility to Gastrointestinal Neoplasia. by Frio, T, Lavoie, J, Hamel, N, Geyer, F, Kushner, Y, Novak, D, Wark, L, Capelli, C, Reis-Filho, J, Mai, S, Pastinen, T, Tischkowitz, MD, Marcus, V, Foulkes, W

Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. by Rio Frio, T, Lavoie, J, Hamel, N, Geyer, F, Kushner, Y, Novak, D, Wark, L, Capelli, C, Reis-Filho, J, Mai, S, Pastinen, T, Tischkowitz, MD, Marcus, V, Foulkes, W

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

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The cellular and immunological dynamics of early and transitional human milk by Cas LeMaster, Stephen H. Pierce, Eric S. Geanes, Santosh Khanal, Staci S. Elliott, Allison B. Scott, Daniel A. Louiselle, Rebecca McLennan, Devika Maulik, Tamorah Lewis, Tomi Pastinen, Todd Bradley

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The Role of Dynamic DNA Methylation in Liver Transplant Rejection in Children by Mylarappa Ningappa, PhD, Xiaojian Shao, PhD, Chethan Ashokkumar, PhD, Qingyong Xu, PhD, Adriana Zeevi, PhD, Elin Grundberg, PhD, Tomi Pastinen, MD, PhD, Rakesh Sindhi, MD

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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

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