Anne O'Donnell-Luria

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

Prati

Anne O'Donnell-Luria

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

Potvrđena adresa e-pošte na broadinstitute.org - Početna stranica

rare disease gene discovery incomplete penetrance human phenotyping epigenetics


Naslov Poredaj po navodima Poredaj po godini Poredaj po naslovu	Citirano Citirano	Godina
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	10610	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	8076	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	1178	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	836	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	704	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	451	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	383	2016
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	354	2022
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	347	2024
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	332	2016
Regional missense constraint improves variant deleteriousness prediction KE Samocha, JA Kosmicki, KJ Karczewski, AH O’Donnell-Luria, ... BioRxiv, 148353, 2017	331	2017
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	330	2017
Mammalian cytosine methylation at a glance SKT Ooi, AH O'Donnell, TH Bestor Journal of cell science 122 (16), 2787-2791, 2009	281	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	252	2018
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	240	2022
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	234	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	233	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	200	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	196	2019

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