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O'Donnell-Luria, Anne H
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1

Author Correction: Landscape of multi-nucleotide variants i..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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2

Author Correction: Transcript expression-aware annotation i..:

Genome Aggregation Database Production Team ; Cummings, Beryl B. ; Karczewski, Konrad J....
Nature.  590 (2021)  7846 - p. E54-E54 , 2021
Link: https://doi.org/10.1038/..
 
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3

Author Correction: Characterising the loss-of-function impa..:

Whiffin, Nicola ; Karczewski, Konrad J. ; Zhang, Xiaolei...
Nature Communications.  12 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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4

Apcdd1 is a dual BMP/Wnt inhibitor in the developing nervou..:

Vonica, Alin ; Bhat, Neha ; Phan, Keith...
Developmental Biology.  464 (2020)  1 - p. 71-87 , 2020
Link: https://doi.org/10.1016/..
 
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5

Transcript expression-aware annotation improves rare varian..:

Cummings, Beryl B. ; Karczewski, Konrad J. ; Kosmicki, Jack A....
Nature.  581 (2020)  7809 - p. 452-458 , 2020
Link: https://doi.org/10.1038/..
 
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6

Characterising the loss-of-function impact of 5' untranslat..:

Whiffin, Nicola ; Karczewski, Konrad J. ; Zhang, Xiaolei...
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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7

Landscape of multi-nucleotide variants in 125,748 human exo..:

Wang, Qingbo ; Pierce-Hoffman, Emma ; Cummings, Beryl B....
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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8

Characterization of Prevalence and Health Consequences of U..:

Nakka, Priyanka ; Pattillo Smith, Samuel ; O'Donnell-Luria, Anne H....
The American Journal of Human Genetics.  105 (2019)  5 - p. 921-932 , 2019
Link: https://doi.org/10.1016/..
 
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9

Unique bioinformatic approach and comprehensive reanalysis ..:

Schmitz-Abe, Klaus ; Li, Qifei ; Rosen, Samantha M....
European Journal of Human Genetics.  27 (2019)  9 - p. 1398-1405 , 2019
Link: https://doi.org/10.1038/..
 
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10

Insights into genetics, human biology and disease gleaned f..:

Posey, Jennifer E. ; O'Donnell-Luria, Anne H. ; Chong, Jessica X....
Genetics in Medicine.  21 (2019)  4 - p. 798-812 , 2019
Link: https://doi.org/10.1038/..
 
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11

matchbox: An open-source tool for patient matching via the ..:

Arachchi, Harindra ; Wojcik, Monica H ; Weisburd, Benjamin...
Human Mutation.  39 (2018)  12 - p. 1827-1834 , 2018
Link: https://doi.org/10.1002/..
 
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12

Brain MRS glutamine as a biomarker to guide therapy of hype..:

O'Donnell-Luria, Anne H. ; Lin, Alexander P. ; Merugumala, Sai K....
Molecular Genetics and Metabolism.  121 (2017)  1 - p. 9-15 , 2017
Link: https://doi.org/10.1016/..
 
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13

Pathogenic ASXL1 somatic variants in reference databases co..:

Carlston, Colleen M. ; O'Donnell-Luria, Anne H. ; Underhill, Hunter R....
Human Mutation.  38 (2017)  5 - p. 517-523 , 2017
Link: https://doi.org/10.1002/..
 
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14

ClinVar data parsing:

Zhang, Xiaolei ; Minikel, Eric V. ; O'Donnell-Luria, Anne H....
Wellcome Open Research.  2 (2017)  - p. 33 , 2017
Link: https://doi.org/10.12688..
 
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15

Human knockouts and phenotypic analysis in a cohort with a ..:

Saleheen, Danish ; Natarajan, Pradeep ; Armean, Irina M....
Nature.  544 (2017)  7649 - p. 235-239 , 2017
Link: https://doi.org/10.1038/..
 
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