Birgit Krabichler

1.8k total citations
17 papers, 786 citations indexed

About

Birgit Krabichler is a scholar working on Molecular Biology, Genetics and Cell Biology. According to data from OpenAlex, Birgit Krabichler has authored 17 papers receiving a total of 786 indexed citations (citations by other indexed papers that have themselves been cited), including 11 papers in Molecular Biology, 10 papers in Genetics and 6 papers in Cell Biology. Recurrent topics in Birgit Krabichler's work include Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (3 papers) and Skin and Cellular Biology Research (2 papers). Birgit Krabichler is often cited by papers focused on Genomic variations and chromosomal abnormalities (6 papers), Genomics and Rare Diseases (3 papers) and Skin and Cellular Biology Research (2 papers). Birgit Krabichler collaborates with scholars based in Austria, United States and Germany. Birgit Krabichler's co-authors include Johannes Zschocke, Stephan Pabinger, Michael R. Speicher, René Snajder, Zlatko Trajanoski, Mirjana Efremova, Andreas Dander, Andreas Janecke, Thomas Müller and Beat Steinmann and has published in prestigious journals such as The American Journal of Human Genetics, Journal of Medical Genetics and Briefings in Bioinformatics.

In The Last Decade

Birgit Krabichler

17 papers receiving 741 citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Birgit Krabichler Austria 12 488 395 135 131 63 17 786
Reuben J. Pengelly United Kingdom 17 442 0.9× 381 1.0× 90 0.7× 68 0.5× 42 0.7× 46 939
Alison Meynert United Kingdom 15 403 0.8× 225 0.6× 110 0.8× 51 0.4× 37 0.6× 28 770
Emery H. Bresnick United States 22 1.5k 3.0× 266 0.7× 114 0.8× 73 0.6× 90 1.4× 26 1.7k
Kathleen A. Hawkins United States 6 620 1.3× 411 1.0× 130 1.0× 60 0.5× 19 0.3× 7 864
Tam P. Sneddon United States 8 814 1.7× 694 1.8× 89 0.7× 41 0.3× 76 1.2× 10 1.2k
Arijit Mukhopadhyay India 23 1.1k 2.3× 245 0.6× 213 1.6× 225 1.7× 236 3.7× 67 1.7k
Stephanie L. Chissoe United States 14 390 0.8× 191 0.5× 53 0.4× 28 0.2× 70 1.1× 20 698
Weil Lai United States 13 732 1.5× 386 1.0× 118 0.9× 32 0.2× 161 2.6× 18 1.1k
Forrest Y. Tanaka United States 5 1.2k 2.5× 235 0.6× 281 2.1× 38 0.3× 92 1.5× 5 1.4k
Pengpeng Liu China 25 1.4k 2.8× 281 0.7× 265 2.0× 77 0.6× 95 1.5× 53 1.6k

Countries citing papers authored by Birgit Krabichler

Since Specialization
Citations

This map shows the geographic impact of Birgit Krabichler'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 Krabichler with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Birgit Krabichler more than expected).

Fields of papers citing papers by Birgit Krabichler

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Birgit Krabichler. 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 Krabichler. The network helps show where Birgit Krabichler may publish in the future.

Co-authorship network of co-authors of Birgit Krabichler

This figure shows the co-authorship network connecting the top 25 collaborators of Birgit Krabichler. A scholar is included among the top collaborators of Birgit Krabichler 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 Krabichler. Birgit Krabichler is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

17 of 17 papers shown
1.
Cunha, Dulce Lima, Omar M Alakloby, Robert Gruber, et al.. (2019). Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan. Molecular Genetics & Genomic Medicine. 7(3). e539–e539. 7 indexed citations
2.
Indelicato, Elisabetta, Wolfgang Nachbauer, Christine Fauth, et al.. (2018). SYNE1-ataxia: Novel genotypic and phenotypic findings. Parkinsonism & Related Disorders. 62. 210–214. 17 indexed citations
3.
Unterberger, Iris, Judith Dobesberger, Birgit Krabichler, et al.. (2018). A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature. European Journal of Medical Genetics. 62(11). 103564–103564. 3 indexed citations
4.
Baumann, Matthias, Herbert Schreiber, Beate Schlotter‐Weigel, et al.. (2018). MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy. Clinical Genetics. 95(1). 182–186. 14 indexed citations
5.
Baumann, Matthias, Elisabeth Steichen‐Gersdorf, Birgit Krabichler, Thomas Müller, & Andreas Janecke. (2017). A recognizable type of syndromic short stature with arthrogryposis caused by bi‐allelic SEMA3A loss‐of‐function variants. Clinical Genetics. 92(1). 86–90. 7 indexed citations
6.
Baumann, Matthias, Elisabeth Steichen‐Gersdorf, Birgit Krabichler, et al.. (2016). Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype–phenotype correlation. European Journal of Human Genetics. 25(2). 262–266. 30 indexed citations
7.
Schossig, Anna, Agnès Bloch‐Zupan, Adrian Lussi, et al.. (2016). SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome. Journal of Medical Genetics. 54(1). 54–62. 40 indexed citations
8.
Rittinger, Olaf, et al.. (2015). Clinical, cytogenetic, and molecular findings in a patient with a 46,XX,del(18)(q22)/46,XX,idic(18)(q22) karyotype. European Journal of Medical Genetics. 58(11). 603–607. 15 indexed citations
9.
Janecke, Andreas, Ben Li, Manfred Boehm, et al.. (2015). The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations. American Journal of Medical Genetics Part A. 170(1). 103–115. 50 indexed citations
10.
Revençu, Nicole, Birgit Krabichler, Véronique Beauloye, et al.. (2013). Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 → p22. American Journal of Medical Genetics Part A. 161(12). 3176–3181. 17 indexed citations
11.
Pabinger, Stephan, Andreas Dander, René Snajder, et al.. (2013). A survey of tools for variant analysis of next-generation genome sequencing data. Briefings in Bioinformatics. 15(2). 256–278. 394 indexed citations
12.
Rostásy, Kevin, Christine Fauth, Kurt Gautsch, et al.. (2012). Modification of risk for cancer as a coincidental finding in DNA array investigation. Clinical Genetics. 83(3). 284–287. 1 indexed citations
13.
Krabichler, Birgit, Kevin Rostásy, Matthias Baumann, et al.. (2012). Novel Mutation in Potassium Channel related Gene KCTD7 and Progressive Myoclonic Epilepsy. Annals of Human Genetics. 76(4). 326–331. 25 indexed citations
14.
Baas, Annette F., Michael T. Gabbett, Martine Raphaël, et al.. (2012). Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. European Journal of Human Genetics. 21(1). 55–61. 34 indexed citations
15.
Laccone, Franco, Katharina Schoner, Birgit Krabichler, et al.. (2011). Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. European Journal of Human Genetics. 19(11). 1133–1137. 21 indexed citations
16.
Nampoothiri, Sheela, et al.. (2011). Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs. American Journal of Medical Genetics Part A. 155(10). 2465–2468. 1 indexed citations
17.
Dündar, Munis, Thomas Müller, Qi Zhang, et al.. (2009). Loss of Dermatan-4-Sulfotransferase 1 Function Results in Adducted Thumb-Clubfoot Syndrome. The American Journal of Human Genetics. 85(6). 873–882. 110 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.

Explore authors with similar magnitude of impact

Breakdown of academic impact, for papers by Reuben J. Pengelly Breakdown of academic impact, for papers by Alison Meynert Breakdown of academic impact, for papers by Emery H. Bresnick Breakdown of academic impact, for papers by Kathleen A. Hawkins Breakdown of academic impact, for papers by Tam P. Sneddon Breakdown of academic impact, for papers by Arijit Mukhopadhyay Breakdown of academic impact, for papers by Stephanie L. Chissoe Breakdown of academic impact, for papers by Weil Lai Breakdown of academic impact, for papers by Forrest Y. Tanaka Breakdown of academic impact, for papers by Pengpeng Liu
Rankless by CCL
2026