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Azzariti, Danielle R.
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1

OP029: Genetic updates returned by GenomeConnect, the ClinG..:

Paul, Lianna ; Savatt, Juliann ; Azzariti, Danielle...
Genetics in Medicine.  24 (2022)  3 - p. S357-S358 , 2022
Link: https://doi.org/10.1016/..
 
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2

Seven years since the launch of the Matchmaker Exchange: Th..:

Boycott, Kym M. ; Azzariti, Danielle R. ; Hamosh, Ada.
Human Mutation.  , 2022
Link: https://doi.org/10.1002/..
 
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3

Recontacting registry participants with genetic updates thr..:

Savatt, Juliann M. ; Azzariti, Danielle R. ; Ledbetter, David H....
Genetics in Medicine.  23 (2021)  9 - p. 1738-1745 , 2021
Link: https://doi.org/10.1038/..
 
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4

Expanding patient data sharing: ClinGen's partnership with ..:

Savatt, Juliann ; Paul, Lianna ; Smith, Rebecca...
Molecular Genetics and Metabolism.  132 (2021)  - p. S200-S201 , 2021
Link: https://doi.org/10.1016/..
 
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5

Variant interpretation is a component of clinical practice ..:

Wain, Karen E. ; Azzariti, Danielle R. ; Goldstein, Jennifer L....
Genetics in Medicine.  22 (2020)  4 - p. 785-792 , 2020
Link: https://doi.org/10.1038/..
 
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6

A survey assessing adoption of the ACMG-AMP guidelines for ..:

Niehaus, Annie ; Azzariti, Danielle R. ; Harrison, Steven M....
Genetics in Medicine.  21 (2019)  8 - p. 1699-1701 , 2019
Link: https://doi.org/10.1038/..
 
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7

Development of Clinical Domain Working Groups for the Clini..:

Milko, Laura V. ; Funke, Birgit H. ; Hershberger, Ray E....
Genetics in Medicine.  21 (2019)  4 - p. 987-993 , 2019
Link: https://doi.org/10.1038/..
 
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8

Development of a consent resource for genomic data sharing ..:

Riggs, Erin Rooney ; Azzariti, Danielle R. ; Niehaus, Annie...
Genetics in Medicine.  21 (2019)  1 - p. 81-88 , 2019
Link: https://doi.org/10.1038/..
 
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9

Synthesis and biological evaluation of N-biphenyl-nicotinic..:

Porcelli, L. ; Stolfa, D. ; Stefanachi, A....
Cancer Letters.  445 (2019)  - p. 1-10 , 2019
Link: https://doi.org/10.1016/..
 
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10

ClinGen's GenomeConnect registry enables patient‐centered d..:

Savatt, Juliann M. ; Azzariti, Danielle R. ; Faucett, W. Andrew...
Human Mutation.  39 (2018)  11 - p. 1668-1676 , 2018
Link: https://doi.org/10.1002/..
 
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11

Short-term costs of integrating whole-genome sequencing int..:

Christensen, Kurt D. ; Vassy, Jason L. ; Phillips, Kathryn A....
Genetics in Medicine.  20 (2018)  12 - p. 1544-1553 , 2018
Link: https://doi.org/10.1038/..
 
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12

ClinVar Miner: Demonstrating utility of a Web-based tool fo..:

Henrie, Alex ; Hemphill, Sarah E. ; Ruiz-Schultz, Nicole...
Human Mutation.  39 (2018)  8 - p. 1051-1060 , 2018
Link: https://doi.org/10.1002/..
 
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13

Approaches to carrier testing and results disclosure in tra..:

Porter, Kathryn M. ; Kauffman, Tia L. ; Koenig, Barbara A....
Molecular Genetics & Genomic Medicine.  6 (2018)  6 - p. 898-909 , 2018
Link: https://doi.org/10.1002/..
 
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14

ClinGen Variant Curation Expert Panel experiences and stand..:

Rivera‐Muñoz, Edgar A. ; Milko, Laura V. ; Harrison, Steven M....
Human Mutation.  39 (2018)  11 - p. 1614-1622 , 2018
Link: https://doi.org/10.1002/..
 
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15

ClinGen Pathogenicity Calculator: a configurable system for..:

on behalf of the ClinGen Resource ; Patel, Ronak Y. ; Shah, Neethu...
Genome Medicine.  9 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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