Anne O'Donnell-Luria

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Daniel G MacArthurGarvan Institute of Medical Research, Murdoch Children's Research InstituteVerified email at atgu.mgh.harvard.edu
Heidi RehmProfessor of Pathology, Massachusetts General Hospital, Broad Institute of MIT and Harvard, HarvardVerified email at broadinstitute.org
Moriel Singer-BerkVerified email at broadinstitute.org
James S. WareProfessor of Cardiovascular and Genomic Medicine, Imperial College LondonVerified email at imperial.ac.uk
Nicola WhiffinUniversity of OxfordVerified email at well.ox.ac.uk
Mark DalyDirector, Institute for Molecular Medicine Finland (FIMM) & Chief, ATGU, MGH & Broad InstituteVerified email at atgu.mgh.harvard.edu
Eleanor G SeabyBroad Institute of MIT and HarvardVerified email at broadinstitute.org
Timothy H. BestorColumbia UniversityVerified email at columbia.edu
Steven M. HarrisonAmbry Genetics / Broad InstituteVerified email at broadinstitute.org
Julia GoodrichGraduate Student, Cornell UniversityVerified email at cornell.edu
Predrag RadivojacProfessor of Computer Science, Northeastern UniversityVerified email at northeastern.edu
Matthew SolomonsonAssociate Director, Genomic Data Visualization, Broad InstituteVerified email at broadinstitute.org
Eric Vallabh MinikelPrion Scientist, Broad Institute of MIT and HarvardVerified email at broadinstitute.org
Kaitlin E. SamochaMassachusetts General HospitalVerified email at partners.org
Sanna GudmundssonSciLifeLab/KTH & Broad Institute of MIT and HarvardVerified email at broadinstitute.org
Monica WojcikVerified email at broadinstitute.org
Jay A. GingrichSackler Institute Columbia UniversityVerified email at columbia.edu
Jessica AlfoldiBroad Institute of MIT and HarvardVerified email at broadinstitute.org
Steven E. BrennerUniversity of California, BerkeleyVerified email at berkeley.edu
Lynn PaisBroad Institute of MIT and HarvardVerified email at broadinstitute.org

Anne O'Donnell-Luria

Co-Director for the Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Verified email at broadinstitute.org - Homepage

rare disease gene discovery incomplete penetrance human phenotyping epigenetics


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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	10479	2016
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	7729	2020
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	1175	2019
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	796	2020
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	691	2017
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	434	2017
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	376	2016
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	325	2016
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	324	2017
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	318	2022
Regional missense constraint improves variant deleteriousness prediction KE Samocha, JA Kosmicki, KJ Karczewski, AH O’Donnell-Luria, ... BioRxiv, 148353, 2017	318	2017
Mammalian cytosine methylation at a glance SKT Ooi, AH O'Donnell, TH Bestor Journal of cell science 122 (16), 2787-2791, 2009	280	2009
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	243	2018
A genomic mutational constraint map using variation in 76,156 human genomes S Chen, LC Francioli, JK Goodrich, RL Collins, M Kanai, Q Wang, J Alföldi, ... Nature 625 (7993), 92-100, 2024	241	2024
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	238	2007
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	232	2010
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	205	2022
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	204	2022
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	199	2015
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	194	2019

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