Хайлтын үр дүнгүүд - Funke, Birgit H

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers -н Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Dilated Cardiomyopathy -н Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes -н Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy -н Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism -н Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant -н Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Genetic Misdiagnoses and the Potential for Health Disparities -н Manrai, Arjun K., Funke, Birgit H., Rehm, Heidi L., Olesen, Morten S., Maron, Bradley A., Szolovits, Peter, Margulies, David M., Loscalzo, Joseph, Kohane, Isaac S.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders -н Funke, Birgit H, Lencz, Todd, Finn, Christine T, DeRosse, Pamela, Poznik, G David, Plocik, Alex M, Kane, John, Rogus, John, Malhotra, Anil K, Kucherlapati, Raju

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications -н Gowrisankar, Sivakumar, Lerner-Ellis, Jordan P., Cox, Stephanie, White, Emily T., Manion, Megan, LeVan, Kevin, Liu, Jonathan, Farwell, Lisa M., Iartchouk, Oleg, Rehm, Heidi L., Funke, Birgit H.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

ACMG clinical laboratory standards for next-generation sequencing -н Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy -н Jordan, Daniel M., Kiezun, Adam, Baxter, Samantha M., Agarwala, Vineeta, Green, Robert C., Murray, Michael F., Pugh, Trevor, Lebo, Matthew S., Rehm, Heidi L., Funke, Birgit H., Sunyaev, Shamil R.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

LAMP2 microdeletions in patients with Danon disease -н Yang, Zhao, Funke, Birgit H., Cripe, Linda H., Vick, G. Wesley, Mancini-Dinardo, Debora, Peña, Liana S., Kanter, Ronald J., Wong, Brenda, Westerfield, Brandy H., Varela, Jaquelin J, Fan, Yuxin, Towbin, Jeffrey A., Vatta, Matteo

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

The GeneInsight Suite: A Platform to Support Laboratory and Provider Use of DNA based Genetic Testing -н 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.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples -н Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

A novel custom resequencing array for dilated cardiomyopathy -н Zimmerman, Rebekah S., Cox, Stephanie, Lakdawala, Neal K., Cirino, Allison, Mancini-DiNardo, Debora, Clark, Eugene, Leon, Annette, Duffy, Elizabeth, White, Emily, Baxter, Samantha, Alaamery, Manal, Farwell, Lisa, Weiss, Scott, Seidman, Christine E., Seidman, Jonathan G., Ho, Carolyn Y., Rehm, Heidi L., Funke, Birgit H.

Бүрэн текст авах Бүрэн текст авах

The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care -н Kaul, Karen L., Sabatini, Linda M., Tsongalis, Gregory J., Caliendo, Angela M., Olsen, Randall J., Ashwood, Edward R., Bale, Sherri, Benirschke, Robert, Carlow, Dean, Funke, Birgit H., Grody, Wayne W., Hayden, Randall T., Hegde, Madhuri, Lyon, Elaine, Murata, Kazunori, Pessin, Melissa, Press, Richard D., Thomson, Richard B.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice -н Lakdawala, Neal K., Funke, Birgit H., Baxter, Samantha, Cirino, Allison L., Roberts, Amy E., Judge, Daniel P., Johnson, Nicole, Mendelsohn, Nancy J., Morel, Chantal, Care, Melanie, Chung, Wendy K., Jones, Carolyn, Psychogios, Apostolos, Duffy, Elizabeth, Rehm, Heidi L., White, Emily, Seidman, J.G., Seidman, Christine E., Ho, Carolyn Y.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future -н Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.

Бүрэн текст авах Бүрэн текст авах Бүрэн текст авах