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
A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism
S. Vassilopoulos , C. Esk , S. Hoshino , B. H. Funke
Science 324 ( 5931) 1192 -1196
93
2009
NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy
E. Man , K. A. Lafferty , B. H. Funke , K.-S. Lun
Case Reports 2013
8
2013
Dilated Cardiomyopathy
N. K. Lakdawala , J. R. Winterfield , B. H. Funke
Circulation: Arrhythmia and Electrophysiology 6 ( 1) 228 -237
2013
Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts
Alexander G. Bick , Jason Flannick , Kaoru Ito , Susan Cheng
American Journal of Human Genetics 91 ( 3) 513 -519
86
2012
Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies.
Elisabetta Cerbai , Connie R Bezzina , Francesco Mazzarotto , Elisabeth M Lodder
Genetics in Medicine 23 ( 5) 856 -864
2
2021
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes
Jodie Ingles , Jennifer Goldstein , Courtney Thaxton , Colleen Caleshu
Circulation 12 ( 2)
221
2019
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
Jodie Ingles , J Peter van Tintelen , Christopher Semsarian , James S Ware
Genetics in Medicine 20 ( 3) 351 -359
254
2018
Using high-resolution variant frequencies to empower clinical genome interpretation
Nicola Whiffin , Eric Minikel , Roddy Walsh , Anne H O’Donnell-Luria
Genetics in Medicine 19 ( 10) 1151 -1158
200
2017
Tbx1 heterozygosity impairs working memory in mice
Takeshi Hiramoto , Go Suzuki , Gina Kang , Birgit Funke
Neuroscience Research 65 S121 -S122
2009
Use of “Coldspot” Regions in Variant Classification
Steven M Harrison , Birgit Funke
Clinical Chemistry 66 ( 10) 1263 -1265
2020
Sarcomeric Dilated Cardiomyopathy: Onset from Infancy to Late Adulthood
Neal K. Lakdawala , Samantha Baxter , Elizabeth Duffy , Raju Kucherlapati
Journal of Cardiac Failure 15 ( 6)
2009
Familial Dilated Cardiomyopathy caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
Neal K. Lakdawala , Lisa Dellefave , Elizabeth Sparks , Allison Cirino
Journal of Cardiac Failure 15 ( 6) 320
4
2009
Complexity and Flexibility of IPS2 across various Planning Levels
Horst Meier , Marion Steven , Birgit Funke , Mario Boßlau
Functional Thinking for Value Creation 315 -319
8
2011
Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging
Michelle Olive , Ingrid Harten , Richard Mitchell , Jeanette K. Beers
Arteriosclerosis, Thrombosis, and Vascular Biology 30 ( 11) 2301 -2309
261
2010
Alcama mediates Edn1 signaling during zebrafish cartilage morphogenesis.
Priya Choudhry , Deepa Joshi , Birgit Funke , Nikolaus Trede
Developmental Biology 349 ( 2) 483 -493
21
2011
TBX1 Is Responsible for Cardiovascular Defects in Velo-Cardio-Facial/DiGeorge Syndrome
Sandra Merscher , Birgit Funke , Jonathan A. Epstein , Joerg Heyer
Cell 104 ( 4) 619 -629
806
2001
Association of the DTNBP1 locus with schizophrenia in a U.S. population.
Birgit Funke , Christine T. Finn , Alex M. Plocik , Stephen Lake
American Journal of Human Genetics 75 ( 5) 891 -898
154
2004
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.
Jeffrey M. Long , Patricia LaPorte , Sandra Merscher , Birgit Funke
Neurogenetics 7 ( 4) 247 -257
69
2006
Regional Variation in RBM20 Causes a Highly Penetrant Arrhythmogenic Cardiomyopathy
Victoria N. Parikh , Colleen Caleshu , Chloe Reuter , Laura C. Lazzeroni
Circulation-heart Failure 12 ( 3) - --
41
2019
Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11.
Birgit Funke , Anne Puech , Bruno Saint-Jore , Raj Pandita
Genomics 53 ( 2) 146 -154
21
1998