E-LIB Suche - Ergebnisse für: Azzariti, Danielle R.

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

A systematic approach to the reporting of medically relevan..:

McLaughlin, Heather M ; Ceyhan-Birsoy, Ozge ; Christensen, Kurt D...
BMC Medical Genetics. 15 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

12

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/..

13

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/..

14

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/..

15

Molecular and biochemical characterization of the Neurospor..:

de Paula, R. ; Azzariti de Pinho, C. ; Terenzi, H..
Molecular Genetics and Genomics. 267 (2002) 2 - p. 241-253 , 2002

Link: https://doi.org/10.1007/..