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Azzariti, Danielle R.
45
results:
Search for persons
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Format
Online (45)
Mediatypes
Articles (Online) (30)
OpenAccess-fulltext (15)
Sorted by: Relevance
Sorted by: Year
?
1
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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2
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/..
?
3
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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4
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/..
?
5
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/..
?
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
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/..
?
11
Clinical laboratories collaborate to resolve differences in..:
Harrison, Steven M.
;
Dolinsky, Jill S.
;
Knight Johnson, Amy E.
...
Genetics in Medicine. 19 (2017) 10 - p. 1096-1104 , 2017
Link:
https://doi.org/10.1038/..
?
12
Determinants of white matter hyperintensity burden in patie..:
Rost, Natalia S.
;
Cloonan, Lisa
;
Kanakis, Allison S.
...
Neurology. 86 (2016) 20 - p. 1880-1886 , 2016
Link:
https://doi.org/10.1212/..
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13
Using ClinVar as a Resource to Support Variant Interpretati..:
Harrison, Steven M.
;
Riggs, Erin R.
;
Maglott, Donna R.
...
Current Protocols in Human Genetics. 89 (2016) 1 - p. , 2016
Link:
https://doi.org/10.1002/..
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14
The Matchmaker Exchange: A Platform for Rare Disease Gene D..:
Philippakis, Anthony A.
;
Azzariti, Danielle R.
;
Beltran, Sergi
...
Human Mutation. 36 (2015) 10 - p. 915-921 , 2015
Link:
https://doi.org/10.1002/..
?
15
GenomeConnect: Matchmaking Between Patients, Clinical Labor..:
Kirkpatrick, Brianne E.
;
Riggs, Erin Rooney
;
Azzariti, Danielle R.
...
Human Mutation. 36 (2015) 10 - p. 974-978 , 2015
Link:
https://doi.org/10.1002/..
1-15