Birgit Funke

12.2k total citations · 3 hit papers
72 papers, 5.3k citations indexed

About

Birgit Funke is a scholar working on Molecular Biology, Genetics and Cardiology and Cardiovascular Medicine. According to data from OpenAlex, Birgit Funke has authored 72 papers receiving a total of 5.3k indexed citations (citations by other indexed papers that have themselves been cited), including 38 papers in Molecular Biology, 36 papers in Genetics and 17 papers in Cardiology and Cardiovascular Medicine. Recurrent topics in Birgit Funke's work include Genomics and Rare Diseases (24 papers), Congenital heart defects research (23 papers) and Cardiomyopathy and Myosin Studies (15 papers). Birgit Funke is often cited by papers focused on Genomics and Rare Diseases (24 papers), Congenital heart defects research (23 papers) and Cardiomyopathy and Myosin Studies (15 papers). Birgit Funke collaborates with scholars based in United States, United Kingdom and Germany. Birgit Funke's co-authors include Heidi L. Rehm, Madhuri Hegde, Pınar Bayrak‐Toydemir, Elaine Lyon, Anil K. Malhotra, Jonathan S. Berg, Sherri J. Bale, Stuart A. Cook, Roddy Walsh and James S. Ware and has published in prestigious journals such as Science, New England Journal of Medicine and Proceedings of the National Academy of Sciences.

In The Last Decade

Birgit Funke

72 papers receiving 5.2k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

ACMG clinical laboratory standards for next-generation sequencing

2013 631 citations Heidi L. Rehm, Pınar Bayrak‐Toydemir et al. Genetics in Medicine profile →
Genetic Misdiagnoses and the Potential for Health Disparities

2016 461 citations Birgit Funke, Heidi L. Rehm et al. profile →
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

2016 451 citations Birgit Funke et al. Genetics in Medicine profile →

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name	h						Papers	Cites
Birgit Funke United States	34	2.5k	2.0k	1.3k	713	344	72	5.3k
Jean-Marc Lalouel United States	41	2.1k 0.8×	2.2k 1.1×	1.9k 1.4×	394 0.6×	391 1.1×	111	7.2k
Michael A. Simpson United Kingdom	44	2.7k 1.1×	1.2k 0.6×	486 0.4×	376 0.5×	289 0.8×	161	6.3k
J.-M. Lalouel United States	26	3.3k 1.3×	2.9k 1.4×	1.1k 0.8×	485 0.7×	307 0.9×	99	7.4k
Jenny C. Taylor United Kingdom	29	1.7k 0.7×	1.1k 0.6×	716 0.6×	786 1.1×	244 0.7×	96	4.0k
Christa Lese Martin United States	29	1.9k 0.8×	4.4k 2.2×	365 0.3×	1.0k 1.4×	169 0.5×	76	6.7k
Borut Peterlin Slovenia	35	2.1k 0.8×	1.2k 0.6×	346 0.3×	291 0.4×	237 0.7×	302	4.7k
Dietrich A. Stephan United States	32	2.7k 1.1×	1.2k 0.6×	564 0.4×	390 0.5×	258 0.8×	66	5.4k
David T. Miller United States	37	1.6k 0.6×	2.6k 1.3×	261 0.2×	505 0.7×	416 1.2×	96	5.2k
Peter D. Stenson United Kingdom	35	5.7k 2.3×	4.0k 2.0×	468 0.4×	1.1k 1.5×	317 0.9×	63	8.9k

Countries citing papers authored by Birgit Funke

Since Specialization

Citations

This map shows the geographic impact of Birgit Funke's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Birgit Funke with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Birgit Funke more than expected).

Fields of papers citing papers by Birgit Funke

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Birgit Funke. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Birgit Funke. The network helps show where Birgit Funke may publish in the future.

Co-authorship network of co-authors of Birgit Funke

This figure shows the co-authorship network connecting the top 25 collaborators of Birgit Funke. A scholar is included among the top collaborators of Birgit Funke based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Birgit Funke. Birgit Funke is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Krusche, Peter, Len Trigg, Paul C. Boutros, et al.. (2019). Best practices for benchmarking germline small-variant calls in human genomes. Nature Biotechnology. 37(5). 555–560. 182 indexed citations

Bean, Lora Jh, Birgit Funke, Colleen M. Carlston, et al.. (2019). Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genetics in Medicine. 22(3). 453–461. 84 indexed citations

Senol-Cosar, Ozlem, Ryan J. Schmidt, Emily Qian, et al.. (2019). Considerations for clinical curation, classification, and reporting of low-penetrance and low effect size variants associated with disease risk. Genetics in Medicine. 21(12). 2765–2773. 15 indexed citations

Santani, Avni, Birgitte B. Simen, Matthew S. Lebo, et al.. (2018). Designing and Implementing NGS Tests for Inherited Disorders. Journal of Molecular Diagnostics. 21(3). 369–374. 17 indexed citations

Santani, Avni, Jill R. Murrell, Birgit Funke, et al.. (2017). Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases. Archives of Pathology & Laboratory Medicine. 141(6). 787–797. 20 indexed citations

Tayoun, Ahmad Abou, Saeed Al Turki, Andrea M. Oza, et al.. (2015). Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing–based diagnostic testing and interpretation. Genetics in Medicine. 18(6). 545–553. 45 indexed citations

Mandelker, Diana, Sami S. Amr, Trevor J. Pugh, et al.. (2014). Comprehensive Diagnostic Testing for Stereocilin. Journal of Molecular Diagnostics. 16(6). 639–647. 46 indexed citations

Aziz, Nazneen, Qin Zhao, Lynn Bry, et al.. (2014). College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests. Archives of Pathology & Laboratory Medicine. 139(4). 481–493. 247 indexed citations

Pugh, Trevor J., Melissa Kelly, Sivakumar Gowrisankar, et al.. (2014). The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genetics in Medicine. 16(8). 601–608. 245 indexed citations

10.

Funke, Birgit, et al.. (2013). Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. American Journal of Medical Genetics Part A. 161(12). 3187–3190. 27 indexed citations

11.

Jordan, Daniel M., Adam Kieżun, Samantha Baxter, et al.. (2011). Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy. The American Journal of Human Genetics. 88(2). 183–192. 58 indexed citations

12.

Vassilopoulos, Stéphane, Christopher Esk, Birgit Funke, et al.. (2009). A Role for the CHC22 Clathrin Heavy-Chain Isoform in Human Glucose Metabolism. Science. 324(5931). 1192–1196. 84 indexed citations

13.

Suzuki, Go, Kathryn M. Harper, Tetsuya Hiramoto, et al.. (2009). Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice. Human Molecular Genetics. 18(20). 3914–3925. 38 indexed citations

14.

Funke, Birgit, Marco Ramoni, Christine Finn, et al.. (2007). A Novel, Single Nucleotide Polymorphism-Based Assay to Detect 22q11 Deletions. Genetic Testing. 11(1). 91–100. 5 indexed citations

15.

Burdick, Katherine E., Todd Lencz, Birgit Funke, et al.. (2006). Genetic variation in DTNBP1 influences general cognitive ability. Human Molecular Genetics. 15(10). 1563–1568. 134 indexed citations

16.

Long, Jeffrey M., Patricia LaPorte, Sandra Merscher, et al.. (2006). Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics. 7(4). 247–257. 59 indexed citations

17.

Funke, Birgit, Lisa Edelmann, Raj K. Pandita, et al.. (1999). Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11. The American Journal of Human Genetics. 64(3). 747–758. 39 indexed citations

18.

Funke, Birgit, Anne Puech, Bruno Saint-Jore, et al.. (1998). Isolation and Characterization of a Human Gene Containing a Nuclear Localization Signal from the Critical Region for Velo–Cardio–Facial Syndrome on 22q11. Genomics. 53(2). 146–154. 20 indexed citations

19.

Funke, Birgit, Bruno Saint-Jore, Anne Puech, et al.. (1997). Characterization and Mutation Analysis of Goosecoid-like (GSCL), a Homeodomain-Containing Gene That Maps to the Critical Region for VCFS/DGS on 22q11. Genomics. 46(3). 364–372. 21 indexed citations

20.

Funke, Birgit. (1996). The mouse poly(C)-binding protein exists in multiple isoforms and interacts with several RNA-binding proteins. Nucleic Acids Research. 24(19). 3821–3828. 38 indexed citations

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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