P626: Clinical utility of structural variant calling using breakpoint analysis method for targeted NGS gene panels by Lotta Koskinen, Margarita Andreevskaya, Mikko Muona, Tuuli Pietila, Janica Djupsjöbacka, Ville Kytölä, Kati Kämpjärvi, Samuel Myllykangas, Pertteli Salmenperä, Juha Koskenvuo, Miko Valori

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P223: Multiplex detection and quantification of neurological disease-associated repeat expansions using the PacBio Sequel IIe platform by Fabio Fuligni, Robert Thaenert, Aidan Hennigan, Duncan Kilburn, Valeriya Gaysinskaya, Egor Dolzhenko, Guilherme De Sena Brandine, Sarah Kingan, Jason Evans, Danuta Hietpas, Hannah White, Tamara Smith, Timothy Looney, Ray Veeraraghavan, Tina Hambuch-Hawks, Christopher Elzinga, Meaghan Russell

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Development and validation of a high throughput SARS-CoV-2 whole genome sequencing workflow in a clinical laboratory by Sun Hee Rosenthal, Anna Gerasimova, Rolando Ruiz-Vega, Kayla Livingston, Ron M. Kagan, Yan Liu, Ben Anderson, Renius Owen, Laurence Bernstein, Alla Smolgovsky, Dong Xu, Rebecca Chen, Andrew Grupe, Pranoot Tanpaiboon, Felicitas Lacbawan

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P398: Effects of Hurricane Maria and the COVID-19 pandemic on genetic testing at a diagnostic reference laboratory in Puerto Rico by Rebecca Nakles-Taylor, Elinette Albino, David Tsao, Rebecca Chen, Camille Nery, Izabela Karbassi, Arlene Buller-Burckle

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GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy by Krista Heliö, Mikko I. Mäyränpää, Inka Saarinen, Saija Ahonen, Heidi Junnila, Johanna Tommiska, Sini Weckström, Miia Holmström, Mia Toivonen, Kjell Nikus, Kjell Nikus, Julie Hathaway, Pauli Siivonen, Mikko Muona, Johanna Sistonen, Pertteli Salmenperä, Massimiliano Gentile, Jussi Paananen, Samuel Myllykangas, Tero-Pekka Alastalo, Tiina Heliö, Juha Koskenvuo

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Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients by Krista Heliö, Marcos Cicerchia, Julie Hathaway, Johanna Tommiska, Johanna Huusko, Inka Saarinen, Lotta Koskinen, Mikko Muona, Ville Kytölä, Janica Djupsjöbacka, Massimiliano Gentile, Pertteli Salmenperä, Tero-Pekka Alastalo, Christian Steinberg, Tiina Heliö, Jussi Paananen, Samuel Myllykangas, Juha Koskenvuo

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P650: Myotonic dystrophy type 1 genetic testing in over 30,000 patients: Does size matter as patients get older? by Zoe Powis, Khalida Liaquat, Marc Meservey, Judy Louie, Sat Dev Batish

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Association of changes in lipid levels with changes in vitamin D levels in a real-world setting by Yonghong Li, Carmen H. Tong, Charles M. Rowland, Jeff Radcliff, Lance A. Bare, Michael J. McPhaul, James J. Devlin

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P271: Beyond SMN1: Review of genotype-phenotype correlation in individuals with ≥4 SMN2 copy numbers by Zoe Powis, Meagan Nashawaty, Andrea Paal, Khalida Liaquat

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Clinical utility of plasma Aβ42/40 ratio by LC-MS/MS in Alzheimer’s disease assessment by Darren M. Weber, Steven W. Taylor, Robert J. Lagier, Jueun C. Kim, Scott M. Goldman, Nigel J. Clarke, David E. Vaillancourt, Ranjan Duara, Ranjan Duara, Karen N. McFarland, Wei-en Wang, Todd E. Golde, Todd E. Golde, Michael K. Racke

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P531: The utility of exome sequencing for neurodevelopmental disorders at a large reference laboratory by Kailey Owens, Jonathon Lutz, Zoe Powis

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P753: Additional significant findings in individuals with Ashkenazi Jewish founder variants by Michele Basiliere, Erin Nordquist, Elaine Weltmer

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P511: Evaluation of population frequency data for mitochondrial variant interpretation by Glenn Maston, Pernilla von Nandelstadh, Sari Tuupanen, Izabela Karbassi, Juha Koskenvuo

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CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1 by Morteza Hemmat, Melissa J Rumple, Loretta W Mahon, Melanie Morrow, Tamara Zach, Arturo Anguiano, Mohamed M Elnaggar, Boris T Wang, Fatih Z Boyar

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Plasma arginine levels in arginase deficiency in the “real world” by Pranoot Tanpaiboon, Yue Huang, Judy Z. Louie, Rajesh Sharma, Stephen Cederbaum, Denise Salazar

“…Method: In this study, we reported plasma arginine levels from 51 patients with arginase-1 deficiency in the database of Quest Diagnostics. The samples were collected from different US regions. …”
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Zosteriform eruption in an adult male by Kaviyon Sadrolashrafi, BS, Narciss Mobini, MD

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NGS-defined measurable residual disease (MRD) after initial chemotherapy as a prognostic biomarker for acute myeloid leukemia by Yonghong Li, Jose Solis-Ruiz, Fei Yang, Nicola Long, Carmen H. Tong, Felicitas L. Lacbawan, Frederick K. Racke, Richard D. Press

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Alopecia and cutaneous atrophy due to occipital nerve block containing steroids by Kaviyon Sadrolashrafi, BS, Robert Lieberman, MD, Narciss Mobini, MD

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia by Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar

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Multiple Property Tolerance Analysis for the Evaluation of Missense Mutations by Tai-Sung Lee, Steven J. Potts, Matthew J. McGinniss, Charles M. Strom

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