Søgeresultater - Emily Farrow

P819: Genome-wide resolution of highly homologous genes using long-read PacBio HiFi sequencing* af 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 af Joseph Alaimo, Florencia Del Viso, Ana S.A. Cohen, Emily Farrow, Carol Saunders, Isabelle Thiffault

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Daily Medical Liaison Is Associated with Reduced Length of Stay and Complications in Selected Patients Admitted to a Regional Vascular Surgery Service af Emma Mitchell, Roisin Coary, Paul White, Emily Farrow, Amy Crees, William Beedham, Mark Devine, Rebecca Winterborn, David Shipway

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P457: A case of hexasomy 15q due to a tricentric supernumerary chromosome 15 af Emily Farrow, Laura Cross, Bonnie Sullivan, Keely Fitzgerald, Ahmed Abdelmoity, Joseph Alaimo, Elena Repnikova, John Herriges, Lei Zhang

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

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O37: One test fits all: Clinical HiFi sequencing for pediatric rare disease af Carol Saunders, Isabelle Thiffault, Cassandra Barrett, Joseph Alaimo, Charlie Bi, Margaret Gibson, Byunggil Yoo, Tomi Pastinen, Emily Farrow, Ana Cohen

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O10: Exome-based integrated CNV/SNV analysis as a superior first line test: Do you know what you’re missing? af 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 af 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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O24: Unveiling the power of HiFi genome sequencing: One test to rule them all? af 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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P571: Expanding the genetic and phenotypic spectrum of cohesinopathies in a single center af 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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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing af 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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Pathway Of Low Anterior Resection syndrome (LARS) relief after Surgery (POLARiS): protocol for an international, open-label, multi-arm, phase 3 randomised superiority trial within... af Deborah D Stocken, Charles H Knowles, Jared Torkington, David Jayne, Julie Hepburn, Laura Knight, Neil Corrigan, Julie Cornish, Katie Gordon, Ashley Douglas, Kate Wilson, Megan Dale, Julie Croft, Christina Lloydwin, Alexandra Harriet Coxon-Meggy, Judith White, Alun Meggy, Aaron Quyn, Emily Farrow, Kheng-Seong Ng, Hannah Mather, Huey Yi Chong, Betty Tan, Ralph Powell, Andrea Warwick

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