Anne O’Donnell‐Luria

38.4k total citations
51 papers, 1.6k citations indexed

About

Anne O’Donnell‐Luria is a scholar working on Genetics, Molecular Biology and Cancer Research. According to data from OpenAlex, Anne O’Donnell‐Luria has authored 51 papers receiving a total of 1.6k indexed citations (citations by other indexed papers that have themselves been cited), including 32 papers in Genetics, 29 papers in Molecular Biology and 6 papers in Cancer Research. Recurrent topics in Anne O’Donnell‐Luria's work include Genomics and Rare Diseases (20 papers), Genomic variations and chromosomal abnormalities (13 papers) and Epigenetics and DNA Methylation (9 papers). Anne O’Donnell‐Luria is often cited by papers focused on Genomics and Rare Diseases (20 papers), Genomic variations and chromosomal abnormalities (13 papers) and Epigenetics and DNA Methylation (9 papers). Anne O’Donnell‐Luria collaborates with scholars based in United States, United Kingdom and Australia. Anne O’Donnell‐Luria's co-authors include Timothy H. Bestor, Steen K.T. Ooi, Fatemeh Haghighi, Amos Tanay, Daniel G. MacArthur, Marc Damelin, Seong‐Tae Kim, Michael B. Kastan, Bo Xu and Maria H. Milekic and has published in prestigious journals such as Proceedings of the National Academy of Sciences, JAMA and Nucleic Acids Research.

In The Last Decade

Anne O’Donnell‐Luria

46 papers receiving 1.6k citations

Peers

Anne O’Donnell‐Luria

GENET

PPCH

ONCOL

Abdul Noor Canada

Katherine Lachlan United Kingdom

Sebastian Lunke Australia

Jessica X. Chong United States

Kaitlin E. Samocha United States

Paul C. Lott United States

Marjolein H. Willemsen Netherlands

Beryl B. Cummings United States

Joseph G. Vockley United States

Beverly M. Yashar United States

Abdul Noor Canada

Anne O’Donnell‐Luria

823 ×0.7

620 ×0.9

GENET

145 ×0.9

118 ×0.8

PPCH

48 ×0.5

ONCOL

Citations per year, relative to Anne O’Donnell‐Luria Anne O’Donnell‐Luria (= 1×) peers Abdul Noor

Countries citing papers authored by Anne O’Donnell‐Luria

Since Specialization

Citations

This map shows the geographic impact of Anne O’Donnell‐Luria's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Anne O’Donnell‐Luria with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Anne O’Donnell‐Luria more than expected).

Fields of papers citing papers by Anne O’Donnell‐Luria

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Anne O’Donnell‐Luria. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Anne O’Donnell‐Luria. The network helps show where Anne O’Donnell‐Luria may publish in the future.

Co-authorship network of co-authors of Anne O’Donnell‐Luria

This figure shows the co-authorship network connecting the top 25 collaborators of Anne O’Donnell‐Luria. A scholar is included among the top collaborators of Anne O’Donnell‐Luria based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Anne O’Donnell‐Luria. Anne O’Donnell‐Luria is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Reinson, Karit, Kai Muru, Tiia Reimand, et al.. (2025). Exploratory analysis of epilepsy biomarkers using untargeted metabolomics across multiple cohorts. Frontiers in Neurology. 16. 1684456–1684456.

Martinelli, Simone, Hélène Cavé, Alessandro De Luca, et al.. (2025). Interpreting the functional impact of genetic variants: The need for context qualifiers. The American Journal of Human Genetics. 113(1). 5–15.

Karnebeek, Clara D.M. van, Anne O’Donnell‐Luria, Gareth Baynam, et al.. (2024). Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases. Orphanet Journal of Rare Diseases. 19(1). 357–357. 7 indexed citations

Stenton, Sarah L., Vikas Pejaver, Timothy Bergquist, et al.. (2024). Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. Genetics in Medicine. 26(11). 101213–101213. 5 indexed citations

Singer‐Berk, Moriel, Sanna Gudmundsson, Samantha Baxter, et al.. (2023). Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data. The American Journal of Human Genetics. 110(9). 1496–1508. 7 indexed citations

Gudmundsson, Sanna, Colleen M. Carlston, & Anne O’Donnell‐Luria. (2023). Interpreting variants in genes affected by clonal hematopoiesis in population data. Human Genetics. 143(4). 545–549. 1 indexed citations

Stenton, Sarah L., et al.. (2023). First-tier next-generation sequencing for newborn screening: An important role for biochemical second-tier testing. SHILAP Revista de lepidopterología. 1(1). 100821–100821. 5 indexed citations

Seaby, Eleanor G., N. Simon Thomas, David Hunt, et al.. (2023). A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service. Healthcare. 11(24). 3179–3179.

Alghamdi, Malak, et al.. (2023). Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman. JIMD Reports. 64(5). 312–316. 3 indexed citations

10.

Ganesh, Vijay, Ben Weisburd, Catriona McLean, et al.. (2023). Transcriptome and Genome Analysis Uncovers a DMD Structural Variant. Neurology Genetics. 9(2). e200064–e200064. 2 indexed citations

11.

Wahlster, Lara, Jeffrey M. Verboon, Leif S. Ludwig, et al.. (2021). Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript. The Journal of Experimental Medicine. 218(6). 10 indexed citations

12.

Jurgens, Julie A., Brenda J. Barry, Gabrielle Lemire, et al.. (2021). Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. European Journal of Human Genetics. 29(5). 816–826. 12 indexed citations

13.

Vonica, Alin, Neha Bhat, Keith D. Phan, et al.. (2020). Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervous system and skin. Developmental Biology. 464(1). 71–87. 15 indexed citations

14.

Wojcik, Monica H., Katherine R. Chao, Julia K. Goodrich, et al.. (2019). Genome Sequencing Identifies the Pathogenic Variant Missed by Prior Testing in an Infant with Marfan Syndrome. The Journal of Pediatrics. 213. 235–240. 5 indexed citations

15.

Schmitz‐Abe, Klaus, Qifei Li, Jill A. Madden, et al.. (2019). Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. European Journal of Human Genetics. 27(9). 1398–1405. 41 indexed citations

16.

Pérez‐Palma, Eduardo, Patrick May, Sumaiya Iqbal, et al.. (2019). Identification of pathogenic variant enriched regions across genes and gene families. Genome Research. 30(1). 62–71. 36 indexed citations

17.

Pillai, Nishitha R., Rossana Sanchez Russo, Anne O’Donnell‐Luria, et al.. (2018). Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review. The Journal of Pediatrics. 202. 315–319.e2. 5 indexed citations

18.

O’Donnell‐Luria, Anne & David T. Miller. (2016). A Clinician’s perspective on clinical exome sequencing. Human Genetics. 135(6). 643–654. 28 indexed citations

19.

Milekic, Maria H., Yurong Xin, Anne O’Donnell‐Luria, et al.. (2014). Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression. Molecular Psychiatry. 20(8). 995–1001. 132 indexed citations

20.

Edwards, John R., Anne O’Donnell‐Luria, Robert A. Rollins, et al.. (2010). Chromatin and sequence features that define the fine and gross structure of genomic methylation patterns. Genome Research. 20(7). 972–980. 136 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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