Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes by Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Eleanor G. Seaby, Heidi L. Rehm, Heidi L. Rehm, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria, Anne O’Donnell-Luria

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P713: Estimating the prevalence of de novo monogenic disorders from gnomAD database by Mutaz Amin, Samantha Baxter, Kaitlin Samocha, Anne O'Donnell-Luria

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First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing by Sarah L. Stenton, Madelynn Campagna, Anthony Philippakis, Anne O'Donnell-Luria, Michael H. Gelb

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P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel by Anne O'Donnell-Luria, Ellie Broeren, Alison Coffey, Syndromic Disorders Gene Curation Expert Panel

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Two novel CHD7 variants in patients with typical and mild features of CHARGE syndrome co-occurring with esophageal atresia by Devon Michael Evanovich, Anne O'Donnell-Luria, Benjamin Zendejas, Dusica Bajic, Jue Teresa Wang

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P474: Applying the 2022 guidelines for non-coding variant classification in a large rare disease cohort by Emily Groopman, Moriel Singer-Berk, Nicola Whiffin, Jamie Ellingford, Samantha Baxter, Heidi Rehm, Anne O’Donnell-Luria

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Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman by Malak Ali Alghamdi, Anne O'Donnell‐Luria, Naif A. Almontashiri, Wajeih Y. AlAali, Hebatallah H. Ali, Harvey L. Levy

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P114: Use of population data to empower patient organizations and improve advocacy for rare disease therapeutics by Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Emily Groopman, Nicholas Watts, Michael Wilson, Jordan Wood, Heidi Rehm, Anne O'Donnell-Luria

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P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis by Joseph Biddle, Teresa Campbell, Alba Sanchis-Juan, Gabrielle Lemire, Lance Rodan, Melanie O'Leary, Christina Austin-Tse, Anne O'Donnell-Luria, Laurie Sadler

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P138: Evaluating the impact of gnomAD v4 on genetic prevalence estimates* by Samantha Baxter, Moriel Singer-Berk, Kathryn Russell, Mutaz Amin, Carmen Glaze, Riley Grant, Josephine Lee, Nick Watts, Michael Wilson, Heidi Rehm, Anne O'Donnell-Luria

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Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL by Elizabeth Carbonell, Sarah L. Stenton, Vijay S. Ganesh, Jialan Ma, Grace E. VanNoy, Lynn Pais, John N. Gaitanis, Melanie C. O’Leary, Heidi L. Rehm, Anne O’Donnell-Luria

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P559: Improved classification framework demonstrates many population predicted loss of function (pLoF) variants in genomic sequencing do not result in LoF* by Moriel Singer-Berk, Sanna Gudmundsson, Samantha Baxter, Eleanor Seaby, Eleina England, Jordan Wood, Rachel Son, Nicholas Watts, Konrad Karczewski, Steven Harrison, Daniel MacArthur, Heidi Rehm, Anne O'Donnell-Luria

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P523: The NeuroDev Study: Genetic characterization of neurodevelopmental disorders in African populations by Emily O'Heir, Patricia Kipkemoi, Heesu Ally Kim, Bjorn Christ, Emma Eastman, Celia van der Merwe, Alice Galvin, Jake Allen, Victoria de Menil, Alysia Lovgren, Christina Austin-Tse, Amina Abubakar, Charles Newton, Kirsten Donald, Anne O'Donnell-Luria, Elise Robinson

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De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency by Marina Villamor-Payà, María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram, Alysia Kern Lovgren, Christina Austin-Tse, Vijay S. Ganesh, Marina Gay, Marta Vilaseca, Gianluca Arauz-Garofalo, Lluís Palenzuela, Grace VanNoy, Anne O’Donnell-Luria, Travis H. Stracker

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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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O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) by Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski

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O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function by Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly

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Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy by Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network, Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

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Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy by Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome by Jamie M. Ellingford, Joo Wook Ahn, Richard D. Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R. FitzPatrick, John M. Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C. Martin, William G. Newman, Anne O’Donnell-Luria, Simon C. Ramsden, Heidi L. Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C. Taylor, Maggie Williams, Jordan C. Wood, Caroline F. Wright, Steven M. Harrison, Nicola Whiffin

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