2026 Anne H. O’Donnell-Luria: Genetics Researcher – H-Index, Publications & Awards

Discipline name	D-Index	World Ranking	Current World Ranking	National Ranking	Current National Ranking	Publications	Citations
Genetics	51	3818	3602	1646	1546	212	35731

Overview

Anne H. O'Donnell-Luria is affiliated with the Broad Institute in the United States. Their research focuses on genetics and molecular biology, with a significant contribution to the fields of genomics and rare diseases, genomic variations, genetic associations, and cancer genomics.

The main fields of study in their work include biochemistry, genetics, and molecular biology. More specifically, their subfield contributions cover:

Genetics
Molecular Biology
Cancer Research
Cell Biology
Pediatrics, Perinatology and Child Health

The primary research topics addressed by Anne H. O'Donnell-Luria are:

Genomics and Rare Diseases
Genomic variations and chromosomal abnormalities
Genetics and Neurodevelopmental Disorders
Cancer Genomics and Diagnostics
RNA modifications and cancer
Genetic Associations and Epidemiology
Genomics and Phylogenetic Studies

The scientist has published extensively, with contributions appearing frequently in several venues, including:

bioRxiv (Cold Spring Harbor Laboratory)
Genetics in Medicine Open
The American Journal of Human Genetics
Genetics in Medicine
Nature

Notable recent publications include:

The mutational constraint spectrum quantified from variation in 141,456 humans (2020, Nature)
A structural variation reference for medical and population genetics (2020, Nature)
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022, The American Journal of Human Genetics)
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes (2022, bioRxiv [Cold Spring Harbor Laboratory])
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023, The American Journal of Human Genetics)

Anne H. O'Donnell-Luria frequently collaborates with other researchers, including:

Heidi L. Rehm
Daniel G. MacArthur
Lynn Pais
Ben Weisburd
Christina Austin-Tse

The scope of Anne H. O'Donnell-Luria's work spans multiple aspects of genetic variation and its implications in human health, with a solid foundation in molecular biology techniques and computational methods related to genomic data. Their contributions have integrated experimental and analytical approaches to better understand genetic diseases and genomic structures.

Best Publications

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek;Konrad J. Karczewski;Konrad J. Karczewski;Eric V. Minikel;Eric V. Minikel;Kaitlin E. Samocha

10685
Citations
The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski;Laurent C. Francioli;Grace Tiao;Beryl B. Cummings

8404
Citations
A structural variation reference for medical and population genetics

Ryan L Collins;Ryan L Collins;Harrison Brand;Harrison Brand;Konrad J Karczewski;Konrad J Karczewski;Xuefang Zhao;Xuefang Zhao

1135
Citations
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Beryl B. Cummings;Beryl B. Cummings;Jamie L. Marshall;Jamie L. Marshall;Taru Tukiainen;Taru Tukiainen;Monkol Lek

674
Citations
Quantifying prion disease penetrance using large population control cohorts

Eric Vallabh Minikel;Eric Vallabh Minikel;Sonia M. Vallabh;Sonia M. Vallabh;Monkol Lek;Monkol Lek;Karol Estrada;Karol Estrada

431
Citations
Using high-resolution variant frequencies to empower clinical genome interpretation

Nicola Whiffin;Nicola Whiffin;Eric Minikel;Eric Minikel;Roddy Walsh;Roddy Walsh;Anne H O’Donnell-Luria;Anne H O’Donnell-Luria

411
Citations
Variant interpretation using population databases: lessons from gnomAD

Sanna Gudmundsson;Moriel Singer-Berk;Nicholas A Watts;William Phu

358
Citations
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Danish Saleheen;Pradeep Natarajan;Pradeep Natarajan;Irina M. Armean;Irina M. Armean;Wei Zhao

332
Citations
Regional missense constraint improves variant deleteriousness prediction

Samocha Ke;Kosmicki Ja;Karczewski Kj;Karczewski Kj;O’Donnell-Luria Ah;O’Donnell-Luria Ah;O’Donnell-Luria Ah

332
Citations
Health and population effects of rare gene knockouts in adult humans with related parents.

Vagheesh M. Narasimhan;Karen A. Hunt;Dan Mason;Christopher L. Baker

317
Citations
Mammalian cytosine methylation at a glance.

Steen K. T. Ooi;Anne H. O'Donnell;Timothy H. Bestor

272
Citations
Hyperconserved CpG domains underlie Polycomb-binding sites

Amos Tanay;Anne H. O'Donnell;Marc Damelin;Timothy H. Bestor

227
Citations
The Genetic Landscape of Diamond-Blackfan Anemia.

Jacob C. Ulirsch;Jacob C. Ulirsch;Jeffrey M. Verboon;Jeffrey M. Verboon;Shideh Kazerounian;Michael H. Guo

224
Citations
Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns

John R. Edwards;Anne H. O'Donnell;Robert A. Rollins;Heather E. Peckham

222
Citations
Transcript expression-aware annotation improves rare variant interpretation

Beryl B Cummings;Beryl B Cummings;Konrad J Karczewski;Konrad J Karczewski;Jack A Kosmicki;Jack A Kosmicki;Eleanor G Seaby;Eleanor G Seaby

180
Citations
Insights into genetics, human biology and disease gleaned from family based genomic studies.

Jennifer E. Posey;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Anne H. O’Donnell-Luria;Jessica X. Chong;Tamar Harel

177
Citations
Evaluating potential drug targets through human loss-of-function genetic variation

EV Minikel;KJ Karczewski;KJ Karczewski;HC Martin;BB Cummings;BB Cummings

172
Citations
Estimating the selective effects of heterozygous protein-truncating variants from human exome data

Christopher A Cassa;Christopher A Cassa;Donate Weghorn;Daniel J Balick;Daniel M Jordan

170
Citations
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Qingbo Wang;Qingbo Wang;Emma Pierce-Hoffman;Beryl B Cummings;Beryl B Cummings;Jessica Alföldi;Jessica Alföldi

130
Citations
The effect of LRRK2 loss-of-function variants in humans

Nicola Whiffin;Nicola Whiffin;Irina M Armean;Irina M Armean;Aaron Kleinman;Jamie L Marshall

102
Citations

Frequent Co-Authors

Daniel G. MacArthur Garvan Institute of Medical Research

Konrad J. Karczewski Harvard University

Jessica Alföldi Broad Institute

Mark J. Daly Massachusetts General Hospital

Harrison Brand Harvard University

Namrata Gupta Broad Institute

Heidi L. Rehm Brigham and Women's Hospital

Michael E. Talkowski Harvard University

Benjamin M. Neale Harvard University

Eric S. Lander Broad Institute

If you think any of the details on this page are incorrect, let us know.

Related Online Degrees & Career Pathways

Studying Genetics can open doors to many advanced career opportunities in healthcare and science. Students interested in patient-focused careers often explore related nursing pathways, as genomic medicine and personalized care are increasingly important. For those seeking specialized clinical roles, online nurse practitioner programs offer flexible options for building expertise beyond a standard nursing degree.

Cost is a major consideration for many students. Several cheap nursing programs are available, making it possible to gain a quality education without overwhelming financial burdens. For those aiming for leadership or advanced clinical positions, pursuing a dnp online can provide the credentials necessary for top-tier roles in research, education, and clinical settings.

Registered Nurses wishing to expand their skills and earning potential can enroll in an affordable rn to bsn program. This is an excellent stepping stone for those seeking to integrate genetic knowledge into modern nursing practice, ensuring comprehensive and up-to-date patient care.