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Anne O'Donnell-Luria
Anne O'Donnell-Luria
Co-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard
Geverifieerd e-mailadres voor broadinstitute.org - Homepage
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Analysis of protein-coding genetic variation in 60,706 humans
M Lek, KJ Karczewski, EV Minikel, KE Samocha, E Banks, T Fennell, ...
Nature 536 (7616), 285-291, 2016
102752016
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
72682020
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
biorxiv, 531210, 2019
11662019
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
7302020
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ...
Science translational medicine 9 (386), eaal5209, 2017
6662017
Using high-resolution variant frequencies to empower clinical genome interpretation
N Whiffin, E Minikel, R Walsh, AH O’Donnell-Luria, K Karczewski, AY Ing, ...
Genetics in Medicine 19 (10), 1151-1158, 2017
4232017
Quantifying prion disease penetrance using large population control cohorts
EV Minikel, SM Vallabh, M Lek, K Estrada, KE Samocha, ...
Science translational medicine 8 (322), 322ra9-322ra9, 2016
3632016
Health and population effects of rare gene knockouts in adult humans with related parents
VM Narasimhan, KA Hunt, D Mason, CL Baker, KJ Karczewski, ...
Science 352 (6284), 474-477, 2016
3172016
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity
D Saleheen, P Natarajan, IM Armean, W Zhao, A Rasheed, SA Khetarpal, ...
Nature 544 (7649), 235-239, 2017
3102017
Regional missense constraint improves variant deleteriousness prediction
KE Samocha, JA Kosmicki, KJ Karczewski, AH O’Donnell-Luria, ...
BioRxiv, 148353, 2017
2992017
Mammalian cytosine methylation at a glance
SKT Ooi, AH O'Donnell, TH Bestor
Journal of cell science 122 (16), 2787-2791, 2009
2732009
Variant interpretation using population databases: Lessons from gnomAD
S Gudmundsson, M Singer‐Berk, NA Watts, W Phu, JK Goodrich, ...
Human mutation 43 (8), 1012-1030, 2022
2512022
Hyperconserved CpG domains underlie Polycomb-binding sites
A Tanay, AH O'Donnell, M Damelin, TH Bestor
Proceedings of the National Academy of Sciences 104 (13), 5521-5526, 2007
2342007
The genetic landscape of Diamond-Blackfan anemia
JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, ...
The American Journal of Human Genetics 103 (6), 930-947, 2018
2332018
Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns
JR Edwards, AH O'Donnell, RA Rollins, HE Peckham, C Lee, MH Milekic, ...
Genome research 20 (7), 972-980, 2010
2272010
Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression
MH Milekic, Y Xin, A O’donnell, KK Kumar, M Bradley-Moore, ...
Molecular psychiatry 20 (8), 995-1001, 2015
1972015
Insights into genetics, human biology and disease gleaned from family based genomic studies
JE Posey, AH O’Donnell-Luria, JX Chong, T Harel, SN Jhangiani, ...
Genetics in Medicine 21 (4), 798-812, 2019
1882019
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ...
BioRxiv, 2022.03. 20.485034, 2022
1812022
Transcript expression-aware annotation improves rare variant interpretation
BB Cummings, KJ Karczewski, JA Kosmicki, EG Seaby, NA Watts, ...
Nature 581 (7809), 452-458, 2020
1802020
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ...
The American Journal of Human Genetics 109 (12), 2163-2177, 2022
1652022
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