Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes

por Seaby, Eleanor G., Rehm, Heidi L., O’Donnell-Luria, Anne
Publicado 2021

ClinVar data parsing

por Zhang, Xiaolei, Minikel, Eric V., O'Donnell-Luria, Anne H., MacArthur, Daniel G., Ware, James S., Weisburd, Ben
Publicado 2017

A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK Genome Medicine Service

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

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman

por Alghamdi, Malak Ali, O'Donnell‐Luria, Anne, Almontashiri, Naif A., AlAali, Wajeih Y., Ali, Hebatallah H., Levy, Harvey L.
Publicado 2023

Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

por Nakka, Priyanka, Pattillo Smith, Samuel, O’Donnell-Luria, Anne H., McManus, Kimberly F., Mountain, Joanna L., Ramachandran, Sohini, Sathirapongsasuti, J. Fah
Publicado 2019

Utility of rapid whole-exome sequencing in the diagnosis of Niemann–Pick disease type C presenting with fetal hydrops and acute liver failure

por Rohanizadegan, Mersedeh, Abdo, Sara M., O'Donnell-Luria, Anne, Mihalek, Ivana, Chen, Peggy, Sanders, Marilyn, Leeman, Kristen, Cho, Megan, Hung, Christina, Bodamer, Olaf
Publicado 2017

Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project

por Seaby, Eleanor G., Thomas, N. Simon, Webb, Amy, Brittain, Helen, Taylor Tavares, Ana Lisa, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Publicado 2022

A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project

por Seaby, Eleanor G., Leggatt, Gary, Cheng, Guo, Thomas, N. Simon, Ashton, James J, Stafford, Imogen, Baralle, Diana, Rehm, Heidi L., O’Donnell-Luria, Anne, Ennis, Sarah
Publicado 2023

Variant interpretation using population databases: Lessons from gnomAD

por Gudmundsson, Sanna, Singer‐Berk, Moriel, Watts, Nicholas A., Phu, William, Goodrich, Julia K., Solomonson, Matthew, Rehm, Heidi L., MacArthur, Daniel G., O'Donnell‐Luria, Anne
Publicado 2021

Using high-resolution variant frequencies to empower clinical genome interpretation

por Whiffin, Nicola, Minikel, Eric, Walsh, Roddy, O’Donnell-Luria, Anne H, Karczewski, Konrad, Ing, Alexander Y, Barton, Paul J R, Funke, Birgit, Cook, Stuart A, MacArthur, Daniel, Ware, James S
Publicado 2017

Identification of pathogenic variant enriched regions across genes and gene families

por Pérez-Palma, Eduardo, May, Patrick, Iqbal, Sumaiya, Niestroj, Lisa-Marie, Du, Juanjiangmeng, Heyne, Henrike O., Castrillon, Jessica A., O'Donnell-Luria, Anne, Nürnberg, Peter, Palotie, Aarno, Daly, Mark, Lal, Dennis
Publicado 2020

Transcriptome and Genome Analysis Uncovers a DMD Structural Variant: A Case Report

por Folland, Chiara, Ganesh, Vijay, Weisburd, Ben, McLean, Catriona, Kornberg, Andrew J., O'Donnell-Luria, Anne, Rehm, Heidi L., Stevanovski, Igor, Chintalaphani, Sanjog R., Kennedy, Paul, Deveson, Ira W., Ravenscroft, Gianina
Publicado 2023

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

por Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Publicado 2020

Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

por Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Publicado 2021

Estimating the Selective Effects of Heterozygous Protein Truncating Variants from Human Exome Data

por Cassa, Christopher A., Weghorn, Donate, Balick, Daniel J., Jordan, Daniel M., Nusinow, David, Samocha, Kaitlin E., O’Donnell-Luria, Anne, MacArthur, Daniel G., Daly, Mark J., Beier, David R., Sunyaev, Shamil R.
Publicado 2017

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

por Pejaver, Vikas, Byrne, Alicia B., Feng, Bing-Jian, Pagel, Kymberleigh A., Mooney, Sean D., Karchin, Rachel, O’Donnell-Luria, Anne, Harrison, Steven M., Tavtigian, Sean V., Greenblatt, Marc S., Biesecker, Leslie G., Radivojac, Predrag, Brenner, Steven E.
Publicado 2022

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

por Singer-Berk, Moriel, Gudmundsson, Sanna, Baxter, Samantha, Seaby, Eleanor G., England, Eleina, Wood, Jordan C., Son, Rachel G., Watts, Nicholas A., Karczewski, Konrad J., Harrison, Steven M., MacArthur, Daniel G., Rehm, Heidi L., O’Donnell-Luria, Anne
Publicado 2023

Untargeted metabolomics profiling in pediatric patients and adult populations indicates a connection between lipid imbalance and epilepsy

por Oja, Kaisa Teele, Ilisson, Mihkel, Reinson, Karit, Muru, Kai, Reimand, Tiia, Peterson, Hedi, Fishman, Dmytro, Esko, Tõnu, Haller, Toomas, Kronberg, Jaanika, Wojcik, Monica H., Kennedy, Adam, Michelotti, Gregory, O’Donnell-Luria, Anne, Õiglane-Šlik, Eve, Pajusalu, Sander, Õunap, Katrin
Publicado 2023

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

por Villamor-Payà, Marina, Sanchiz-Calvo, María, Smak, Jordann, Pais, Lynn, Sud, Malika, Shankavaram, Uma, Lovgren, Alysia Kern, Austin-Tse, Christina, Ganesh, Vijay S, Gay, Marina, Vilaseca, Marta, Arauz-Garofalo, Gianluca, Palenzuela, Lluís, VanNoy, Grace, O’Donnell-Luria, Anne, Stracker, Travis H.
Publicado 2023

Transcript expression-aware annotation improves rare variant interpretation

por Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.
Publicado 2020