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
Published 2021-06-01

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

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
Published 2022-12-01

P595: The ClinGen Syndromic Disorders Gene Curation Expert Panel

by Anne O'Donnell-Luria, Ellie Broeren, Alison Coffey, Syndromic Disorders Gene Curation Expert Panel
Published 2024-01-01

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
Published 2023-01-01

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
Published 2023-01-01

A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service

by Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis
Published 2023-12-01

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
Published 2023-09-01

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

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
Published 2024-01-01

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
Published 2024-01-01

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

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
Published 2024-06-01

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

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

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

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

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

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

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

by Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
Published 2024-05-01