Showing 1 - 20 results of 21 for search 'Anne O’Donnell', query time: 0.03s
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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
Published 2024-01-01
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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
Published 2023-01-01
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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
Published 2023-01-01
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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
Published 2023-01-01
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616 Pharmacokinetics and safety of a subcutaneous formulation of nivolumab (NIVO SC) monotherapy: updated results from the phase 1/2 CheckMate 8KX study by Elizabeth Gibson, Sara Lonardi, Christopher Jackson, Armando Santoro, Jose Manuel Trigo Perez, Iwona Lugowska, R Donald Harvey, Anne O’Donnell, Richard North, Loes Maria Latten-Jansen, Marcelo Garrido Salvo, Matías Chacón, Linghui Li, Devanand Joseph, Bryan Bennett, Balmeet Gurm, Wee-Teck Ng, Aitana Calvo
Published 2023-11-01Article -
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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
Published 2024-01-01
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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
Published 2024-01-01
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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
Published 2024-03-01
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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
Published 2022-08-01
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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
Published 2022-07-01
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P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* by Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm
Published 2024-01-01
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