Selected PUBLICATIONS

Centers for Mendelian Genomics: A decade of facilitating gene discovery

Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, et al., [...] Centers for Mendelian Genomics Consortium, Heidi L. Rehm, Anne O’Donnell-Luria. 2022. Genetics in Medicine: Official Journal of the American College of Medical Genetics. In press.

Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach

Hyuk Jee, Zhengping Huang, Samantha Baxter, Yuelong Huang, Maria L. Taylor, Lauren A. Henderson, Sofia Rosenzweig, et al. [...] Anne O'Donnell-Luria, Pui Y Lee 2022. The Journal of Allergy and Clinical Immunology 149 (1): 379–87. 

Variant Interpretation Using Population Databases: Lessons from gnomAD

Gudmundsson, Sanna, Moriel Singer-Berk, Nicholas A. Watts, William Phu, Julia K. Goodrich, Matthew Solomonson, Genome Aggregation Database Consortium, Heidi L. Rehm, Daniel G. MacArthur, and Anne O’Donnell-Luria. 2021. Human Mutation. Online ahead of print.

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Sanna Gudmundsson, Konrad J. Karczewski, Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo Wang, et al. 2021. Nature 597, E3–E4.

Alternative Genomic Diagnoses for Individuals with a Clinical Diagnosis of Dubowitz Syndrome

Dyment, David A., Anne O’Donnell-Luria, Pankaj B. Agrawal, Zeynep Coban Akdemir, Kyrieckos A. Aleck, Danny Antaki, Hind Al Sharhan, et al. 2021. American Journal of Medical Genetics. Part A 185 (1): 119–33.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Anne O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, et al. 2019.  American Journal of Human Genetics 104 (6): 1210–22.

Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population

Nakka, Priyanka, Samuel Pattillo Smith, Anne H. O’Donnell-Luria, Kimberly F. McManus, 23andMe Research Team, Joanna L. Mountain, Sohini Ramachandran, and J. Fah Sathirapongsasuti. 2019. American Journal of Human Genetics 105 (5): 921–32.

Improving the Understanding of Genetic Variants in Rare Disease With Large-Scale Reference Populations

Whiffin, Nicola, James S. Ware, and Anne O’Donnell-Luria. 2019. JAMA: The Journal of the American Medical Association 322(13):1305-1306.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

Cummings, Beryl B., Jamie L. Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A. Reghan Foley, Veronique Bolduc, et al. 2017. Science Translational Medicine 9 (386).

Pathogenic ASXL1 Somatic Variants in Reference Databases Complicate Germline Variant Interpretation for Bohring-Opitz Syndrome

Carlston, Colleen M*., Anne H. O’Donnell-Luria*, Hunter R. Underhill, Beryl B. Cummings, Ben Weisburd, Eric V. Minikel, Daniel P. Birnbaum, et al. 2017. Human Mutation 38 (5): 517–23.

*equal contribution

Using High-Resolution Variant Frequencies to Empower Clinical Genome Interpretation

Whiffin, Nicola, Eric Minikel, Roddy Walsh, Anne H. O’Donnell-Luria, Konrad Karczewski, Alexander Y. Ing, Paul J. R. Barton, et al. 2017. Genetics in Medicine: Official Journal of the American College of Medical Genetics 19 (10): 1151–58.

Analysis of Protein-Coding Genetic Variation in 60,706 Humans

Lek, Monkol, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Eric Banks, Timothy Fennell, Anne H. O’Donnell-Luria, et al. 2016. Nature 536 (7616): 285–91.