Birgit Funke
机构: Associate Professor of Genetics and Genomic Sciences
每年引用次数
引用次数
引用: 13,903
H-指数: 54
I10-指数 : 91
出版物: 181
Next generation sequencing-based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies.
Ozge Ceyhan‐Birsoy , Trevor J Pugh , Mark J Bowser , Elizabeth Hynes
Molecular Genetics & Genomic Medicine 4 ( 2) 143 -151
23
2016
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Ana Morales , Alexander Ing , Christian Antolik , Christina Austin-Tse
The Journal of Molecular Diagnostics 23 ( 5) 589 -598
2021
Dilated Cardiomyopathy
Neal K Lakdawala , Jeffery R Winterfield , Birgit H Funke
138
2020
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation
Audra L Bettinelli , Theodorus J Mulder , Birgit H Funke , Katherine A Lafferty
American journal of medical genetics Part A 161 ( 12) 3187 -3190
48
2013
Cardiovascular Disease
Samantha M Baxter , Birgit H Funke
Molecular Pathology in Clinical Practice 239 -259
2016
Senior Associate Editor
Frederic G Barr , William B Coleman , Victoria M Pratt , Yi-Wei Tang
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care
Karen L. Kaul , Linda M. Sabatini , Gregory J. Tsongalis , Angela M. Caliendo
Academic Pathology 4 2374289517708309 -2374289517708309
11
2017
Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant.
Quinn S. Wells , Natalie L. Ausborn , Birgit H. Funke , Jean P. Pfotenhauer
Cardiogenetics 1 ( 1) 10
10
2011
LAMP2 microdeletions in patients with Danon disease
Zhao Yang , Birgit H. Funke , Linda H. Cripe , G. Wesley Vick
Circulation-cardiovascular Genetics 3 ( 2) 129 -137
24
2010
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.
Samuel J. Aronson , Eugene H. Clark , Lawrence J. Babb , Samantha Baxter
Human Mutation 32 ( 5) 532 -536
74
2011
Inherited Cardiomyopathies Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era
Polakit Teekakirikul , Melissa A. Kelly , Heidi L. Rehm , Neal K. Lakdawala
The Journal of Molecular Diagnostics 15 ( 2) 158 -170
232
2013
Comprehensive Diagnostic Testing for Stereocilin: An Approach for Analyzing Medically Important Genes with High Homology
Diana Mandelker , Sami S. Amr , Trevor Pugh , Sivakumar Gowrisankar
The Journal of Molecular Diagnostics 16 ( 6) 639 -647
41
2014
Multiplexed Reference Materials as Controls for Diagnostic Next-Generation Sequencing: A Pilot Investigating Applications for Hypertrophic Cardiomyopathy.
Emily M. Kudalkar , Naif A.M. Almontashiri , Catherine Huang , Bharathi Anekella
The Journal of Molecular Diagnostics 18 ( 6) 882 -889
10
2016
Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications
Sivakumar Gowrisankar , Jordan P. Lerner-Ellis , Stephanie Cox , Emily T. White
The Journal of Molecular Diagnostics 12 ( 6) 818 -827
40
2010
The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration
Sachiko Hoshino , Kazuho Sakamoto , Stéphane Vassilopoulos , Stéphane M. Camus
PLoS ONE 8 ( 10) e77787
15
2013
Analysis of TBX1 variation in patients with psychotic and affective disorders.
Birgit H. Funke , Todd Lencz , Christine T. Finn , Pamela DeRosse
Molecular Medicine 13 ( 7) 407 -414
17
2007
Genetic Testing for Dilated Cardiomyopathy in Clinical Practice
Neal K. Lakdawala , Birgit H. Funke , Samantha Baxter , Allison L. Cirino
Journal of Cardiac Failure 18 ( 4) 296 -303
177
2012
Selection of a platform for mutation detection.
Victoria A. Joshi , Debora Mancini‐DiNardo , Birgit H. Funke
Current protocols in human genetics 56 ( 1)
2
2008
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples
Roddy Walsh , , Kate L. Thomson , James S. Ware
Genetics in Medicine 19 ( 2) 192 -203
364
2017
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing
Trevor J. Pugh , Melissa A. Kelly , Sivakumar Gowrisankar , Elizabeth Hynes
Genetics in Medicine 16 ( 8) 601 -608
300
2014