A Case of SF3B1-Positive Myelodysplastic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis by Alejandro Lazo-Langner, Bekim Sadikovic

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Genetically unresolved case of Rauch-Steindl syndrome diagnosed by its wolf-hirschhorn associated DNA methylation episignature by Haley McConkey, Haley McConkey, Alexandre White-Brown, Jennifer Kerkhof, David Dyment, David Dyment, Bekim Sadikovic, Bekim Sadikovic

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P666: Kagami-Ogata syndrome due to uniparental isodisomy 14 and a small supernumerary marker chromosome by Anahita Mohseni Meybodi, Victoria Siu, Bekim Sadikovic, Haley McConkey

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Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory by Pratibha Bhai, Pratibha Bhai, Jacob Turowec, Jacob Turowec, Stephanie Santos, Stephanie Santos, Jennifer Kerkhof, Jennifer Kerkhof, LeeAnne Pickard, Aidin Foroutan, Daniel Breadner, Matthew Cecchini, Matthew Cecchini, Michael A. Levy, Michael A. Levy, Alan Stuart, Alan Stuart, Stephen Welch, Christopher Howlett, Hanxin Lin, Bekim Sadikovic, Bekim Sadikovic, Bekim Sadikovic

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A case of congenital prothrombin deficiency with two concurrent mutations in the prothrombin gene by Eman M. Mansory, Pratibha Bhai, Alan Stuart, Lori Laudenbach, Bekim Sadikovic, Alejandro Lazo‐Langner

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In vitro analysis of integrated global high-resolution DNA methylation profiling with genomic imbalance and gene expression in osteosarcoma. by Bekim Sadikovic, Maisa Yoshimoto, Khaldoun Al-Romaih, Georges Maire, Maria Zielenska, Jeremy A Squire

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Diagnostic utility of DNA methylation episignature analysis for early diagnosis of KMT2B-related disorders: case report by Nadia Bouhamdani, Nadia Bouhamdani, Nadia Bouhamdani, Nadia Bouhamdani, Haley McConkey, Haley McConkey, Amélie Leblanc, Amélie Leblanc, Amélie Leblanc, Bekim Sadikovic, Bekim Sadikovic, Mouna Ben Amor, Mouna Ben Amor, Mouna Ben Amor

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Examining the Clinical Use of Hemochromatosis Genetic Testing by Matthew B Lanktree, Bruce B Lanktree, Guillaume Paré, John S Waye, Bekim Sadikovic, Mark A Crowther

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P311: Use of a DNA methylation signature for the diagnosis of TET3-related Beck-Fahrner syndrome and expansion of its related phenotype by Alice Man, Matteo Di Scipio, Rebecca Hough, Haley McConkey, Eric Diehl, Christian Marshall, Bekim Sadikovic, Resham Ejaz

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Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature by Jan Fischer, Mariëlle Alders, Marcel M. A. M. Mannens, David Genevieve, Karl Hackmann, Evelin Schröck, Bekim Sadikovic, Joseph Porrmann

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The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance by Erfan Aref-Eshghi, Laila C. Schenkel, Hanxin Lin, Cindy Skinner, Peter Ainsworth, Guillaume Paré, David Rodenhiser, Charles Schwartz, Bekim Sadikovic

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The Impact of Artificial Intelligence on Health Equity in Oncology: Scoping Review by Paul Istasy, Wen Shen Lee, Alla Iansavichene, Ross Upshur, Bishal Gyawali, Jacquelyn Burkell, Bekim Sadikovic, Alejandro Lazo-Langner, Benjamin Chin-Yee

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An Approach to the Investigation of Thrombocytosis: Differentiating between Essential Thrombocythemia and Secondary Thrombocytosis by Ala Almanaseer, Benjamin Chin-Yee, Jenny Ho, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Ian H. Chin-Yee, Cyrus C. Hsia

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P569: Identification of a novel, deep-intronic alteration in KDM6A: How a multi-omics approach ended a 10+ year diagnostic odyssey* by Matthew Tedder, Jessica Cooley Coleman, Anna Childers, Jennifer Kerkhof, Raymond Louie, Jennifer Lee, Michael Friez, Bekim Sadikovic, David Everman, Richard Rogers, Raymond Caylor

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Mutational Landscape of Patients Referred for Elevated Hemoglobin Level by Pratibha Bhai, Benjamin Chin-Yee, Victor Pope, Ian Cheong, Maxim Matyashin, Michael A. Levy, Aidin Foroutan, Alan Stuart, Cyrus C. Hsia, Hanxin Lin, Bekim Sadikovic, Ian Chin-Yee

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Evaluation of HER2 immunohistochemistry expression in non-standard solid tumors from a Single-Institution Prospective Cohort by Saurav Verma, Amanda Chapman, Lee-Anne Pickard, Danielle Porplycia, Haley McConkey, Patricia Jarosz, James Sinfield, Carolyn Lauzon-Young, Matthew J Cecchini, Christopher Howlett, Natalie Grindrod, Bekim Sadikovic, Stephen A Welch, Daniel Breadner

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Myelodysplastic Neoplasms (MDS) with Ring Sideroblasts or <i>SF3B1</i> Mutations: The Improved Clinical Utility of World Health Organization and International Consensus Classificat... by Shamim Mortuza, Benjamin Chin-Yee, Tyler E. James, Ian H. Chin-Yee, Benjamin D. Hedley, Jenny M. Ho, Lalit Saini, Alejandro Lazo-Langner, Laila Schenkel, Pratibha Bhai, Bekim Sadikovic, Jonathan Keow, Nikhil Sangle, Cyrus C. Hsia

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P657: NSD2 duplication results in distinct phenotype and DNA methylation signature by Benjamin Hilton, Bekim Sadikovic, Alfredo Brusco, Giovanni Battista Ferrero, Barbara DuPont, Matthew Tedder, Raymond Louie, Nikhil Sahajpal, Erica Andersen, Zoe Lewis, Amanda Openshaw, Jennifer Kerkhof, Haley McConkey, Raissa Relator, Sadegheh Haghshenas, Jack Reilly, Kathleen Rooney

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Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool by Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini de Oliveira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Matheus Augusto Araujo Castro, Mayara T. Sakuma, Fernando Kok, Bekim Sadikovic, Leslie Domenici Kulikowski

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Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases by Clara D. M. van Karnebeek, Anne O’Donnell-Luria, Gareth Baynam, Anaïs Baudot, Tudor Groza, Judith J. M. Jans, Timo Lassmann, Mary Catherine V. Letinturier, Stephen B. Montgomery, Peter N. Robinson, Stefaan Sansen, Ruty Mehrian-Shai, Charles Steward, Kenjiro Kosaki, Patricia Durao, Bekim Sadikovic

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