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The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers.
Published in:
Journal of Personalized Medicine, 2016, v. 6, n. 1, p. 8, doi. 10.3390/jpm6010008
By:
- Hynes, Elizabeth;
- Rehm, Heidi L.;
- Funke, Birgit H.
Publication type:
Article
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3187, doi. 10.1002/ajmg.a.36182
By:
- Bettinelli, Audra L.;
- Mulder, Theodorus J.;
- Funke, Birgit H.;
- Lafferty, Katherine A.;
- Longo, Sherri A.;
- Niyazov, Dmitriy M.
Publication type:
Article
Good laboratory practice for clinical next-generation sequencing informatics pipelines.
Published in:
Nature Biotechnology, 2015, v. 33, n. 7, p. 689, doi. 10.1038/nbt.3237
By:
- Gargis, Amy S;
- Kalman, Lisa;
- Bick, David P;
- da Silva, Cristina;
- Dimmock, David P;
- Funke, Birgit H;
- Gowrisankar, Sivakumar;
- Hegde, Madhuri R;
- Kulkarni, Shashikant;
- Mason, Christopher E;
- Nagarajan, Rakesh;
- Voelkerding, Karl V;
- Worthey, Elizabeth A;
- Aziz, Nazneen;
- Barnes, John;
- Bennett, Sarah F;
- Bisht, Himani;
- Church, Deanna M;
- Dimitrova, Zoya;
- Gargis, Shaw R
Publication type:
Article
Assuring the quality of next-generation sequencing in clinical laboratory practice.
Published in:
Nature Biotechnology, 2012, v. 30, n. 11, p. 1033, doi. 10.1038/nbt.2403
By:
- Gargis, Amy S;
- Kalman, Lisa;
- Berry, Meredith W;
- Bick, David P;
- Dimmock, David P;
- Hambuch, Tina;
- Lu, Fei;
- Lyon, Elaine;
- Voelkerding, Karl V;
- Zehnbauer, Barbara A;
- Agarwala, Richa;
- Bennett, Sarah F;
- Chen, Bin;
- Chin, Ephrem L H;
- Compton, John G;
- Das, Soma;
- Farkas, Daniel H;
- Ferber, Matthew J;
- Funke, Birgit H;
- Furtado, Manohar R
Publication type:
Article
The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration.
Published in:
PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077787
By:
- Hoshino, Sachiko;
- Sakamoto, Kazuho;
- Vassilopoulos, Stéphane;
- Camus, Stéphane M.;
- Griffin, Christine A.;
- Esk, Christopher;
- Torres, Jorge A.;
- Ohkoshi, Norio;
- Ishii, Akiko;
- Tamaoka, Akira;
- Funke, Birgit H.;
- Kucherlapati, Raju;
- Margeta, Marta;
- Rando, Thomas A.;
- Brodsky, Frances M.
Publication type:
Article
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Published in:
Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 2, p. 143, doi. 10.1002/mgg3.187
By:
- Ceyhan‐Birsoy, Ozge;
- Pugh, Trevor J.;
- Bowser, Mark J.;
- Hynes, Elizabeth;
- Frisella, Ashley L.;
- Mahanta, Lisa M.;
- Lebo, Matt S.;
- Amr, Sami S.;
- Funke, Birgit H.
Publication type:
Article
NGS testing for cardiomyopathy: Utility of adding RASopathy‐associated genes.
Published in:
Human Mutation, 2018, v. 39, n. 7, p. 954, doi. 10.1002/humu.23535
By:
- Ceyhan‐Birsoy, Ozge;
- Miatkowski, Maya M.;
- Hynes, Elizabeth;
- Funke, Birgit H.;
- Mason‐Suares, Heather
Publication type:
Article
The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing.
Published in:
Human Mutation, 2011, v. 32, n. 5, p. 532, doi. 10.1002/humu.21470
By:
- Aronson, Samuel J.;
- Clark, Eugene H.;
- Babb, Lawrence J.;
- Baxter, Samantha;
- Farwell, Lisa M.;
- Funke, Birgit H.;
- Hernandez, Amy Lovelette;
- Joshi, Victoria A.;
- Lyon, Elaine;
- Parthum, Andrew R.;
- Russell, Franklin J.;
- Varugheese, Matthew;
- Venman, Thomas C.;
- Rehm, Heidi L.
Publication type:
Article

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