Katherine L. Helbig

9.7k total citations
42 papers, 1.6k citations indexed

About

Katherine L. Helbig is a scholar working on Genetics, Molecular Biology and Psychiatry and Mental health. According to data from OpenAlex, Katherine L. Helbig has authored 42 papers receiving a total of 1.6k indexed citations (citations by other indexed papers that have themselves been cited), including 31 papers in Genetics, 14 papers in Molecular Biology and 14 papers in Psychiatry and Mental health. Recurrent topics in Katherine L. Helbig's work include Genomics and Rare Diseases (24 papers), Genetics and Neurodevelopmental Disorders (18 papers) and Genomic variations and chromosomal abnormalities (16 papers). Katherine L. Helbig is often cited by papers focused on Genomics and Rare Diseases (24 papers), Genetics and Neurodevelopmental Disorders (18 papers) and Genomic variations and chromosomal abnormalities (16 papers). Katherine L. Helbig collaborates with scholars based in United States, Germany and United Kingdom. Katherine L. Helbig's co-authors include Ingo Helbig, Sarah von Spiczak, Sha Tang, Heather C. Mefford, Deepali N. Shinde, André Franke, Zöe Powis, Kelly D. Farwell Hagman, Cameron Mroske and Evan E. Eichler and has published in prestigious journals such as Bioinformatics, Brain and Annals of Neurology.

In The Last Decade

Katherine L. Helbig

42 papers receiving 1.5k citations

Peers — A (Enhanced Table)

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

Name h Career Trend Papers Cites
Katherine L. Helbig United States 20 1.1k 641 411 232 145 42 1.6k
Gemma L. Carvill United States 19 671 0.6× 560 0.9× 402 1.0× 177 0.8× 126 0.9× 41 1.2k
Giulia Barcia France 17 501 0.5× 583 0.9× 539 1.3× 292 1.3× 221 1.5× 56 1.3k
Alex R. Paciorkowski United States 21 669 0.6× 630 1.0× 270 0.7× 161 0.7× 193 1.3× 49 1.4k
Tiziana Pisano Italy 17 448 0.4× 420 0.7× 537 1.3× 286 1.2× 248 1.7× 49 1.1k
Amy McTague United Kingdom 16 653 0.6× 344 0.5× 640 1.6× 223 1.0× 275 1.9× 32 1.2k
Zaid Afawi Israel 17 441 0.4× 442 0.7× 449 1.1× 266 1.1× 90 0.6× 27 1.1k
Heather E. Olson United States 21 861 0.8× 513 0.8× 753 1.8× 345 1.5× 307 2.1× 58 1.8k
Ikuyo Inoue Japan 10 324 0.3× 576 0.9× 512 1.2× 527 2.3× 100 0.7× 19 1.1k
Xinhua Bao China 24 864 0.8× 1.1k 1.7× 388 0.9× 363 1.6× 148 1.0× 130 2.0k
Tracy Dixon‐Salazar United States 12 525 0.5× 556 0.9× 279 0.7× 178 0.8× 316 2.2× 26 1.1k

Countries citing papers authored by Katherine L. Helbig

Since Specialization
Citations

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

Fields of papers citing papers by Katherine L. Helbig

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Katherine L. Helbig. 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 Katherine L. Helbig. The network helps show where Katherine L. Helbig may publish in the future.

Co-authorship network of co-authors of Katherine L. Helbig

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

All Works

20 of 20 papers shown
1.
Vanoye, Carlos G., Reshma R. Desai, Zhigang Ji, et al.. (2022). High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity. JCI Insight. 7(5). 28 indexed citations
2.
Helbig, Ingo, et al.. (2022). Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies. Developmental Medicine & Child Neurology. 64(8). 957–964. 17 indexed citations
3.
Lewis‐Smith, David, Shiva Ganesan, Peter D. Galer, et al.. (2021). Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data. European Journal of Human Genetics. 29(11). 1690–1700. 8 indexed citations
4.
Fitzgerald, Mark P., et al.. (2021). IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep. 11(1). 21–26. 2 indexed citations
5.
Berecki, Géza, Katherine L. Helbig, Tyson L. Ware, et al.. (2020). Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy. International Journal of Molecular Sciences. 21(17). 6333–6333. 10 indexed citations
6.
Ganesan, Shiva, Peter D. Galer, Katherine L. Helbig, et al.. (2020). A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation. Genetics in Medicine. 22(12). 2060–2070. 17 indexed citations
7.
Ganesan, Shiva, David Lewis‐Smith, Manuela Pendziwiat, et al.. (2020). Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies. The American Journal of Human Genetics. 107(4). 683–697. 22 indexed citations
8.
Sajan, Samin A., Zöe Powis, Katherine L. Helbig, et al.. (2018). Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies. Clinical Case Reports. 6(7). 1208–1213. 3 indexed citations
9.
Zaman, Tariq, Ingo Helbig, Ivana Babič Božović, et al.. (2018). Mutations inSCN3Acause early infantile epileptic encephalopathy. Annals of Neurology. 83(4). 703–717. 68 indexed citations
10.
Helbig, Katherine L., Kelly D. Farwell Hagman, Deepali N. Shinde, et al.. (2016). Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. Genetics in Medicine. 18(9). 898–905. 217 indexed citations
11.
Amos, J., Linda Huang, Julien Thévenon, et al.. (2016). Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. Clinical Genetics. 91(1). 92–99. 16 indexed citations
12.
Hagman, Kelly D. Farwell, Deepali N. Shinde, Cameron Mroske, et al.. (2016). Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. Genetics in Medicine. 19(2). 224–235. 34 indexed citations
13.
Kirov, Andrey, Petia Dimova, Албена Тодорова, et al.. (2013). 15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria. Epilepsy Research. 104(3). 241–245. 7 indexed citations
14.
Jähn, Johanna, Sarah von Spiczak, Hiltrud Muhle, et al.. (2013). Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies. Epilepsy Research. 108(1). 109–116. 18 indexed citations
15.
Helbig, Katherine L., Susan E. Hodge, & Ruth Ottman. (2012). Familial cosegregation of rare genetic variants with disease in complex disorders. European Journal of Human Genetics. 21(4). 444–450. 8 indexed citations
16.
Helbig, Katherine L., Michael Nothnagel, Jochen Hampe, et al.. (2012). A case-only study of gene-environment interaction between genetic susceptibility variants in NOD2 and cigarette smoking in Crohn's disease aetiology. BMC Medical Genetics. 13(1). 14–14. 21 indexed citations
17.
Muhle, Hiltrud, Heather C. Mefford, Tanja Obermeier, et al.. (2011). Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome. Epilepsia. 52(12). e194–8. 22 indexed citations
18.
Helbig, Katherine L., Barbara A. Bernhardt, Laura Conway, et al.. (2010). Genetic risk perception and reproductive decision making among people with epilepsy. Epilepsia. 51(9). 1874–1877. 25 indexed citations
19.
Spiczak, Sarah von, Hiltrud Muhle, Katherine L. Helbig, et al.. (2010). Association Study of TRPC4 as a Candidate Gene for Generalized Epilepsy with Photosensitivity. NeuroMolecular Medicine. 12(3). 292–299. 21 indexed citations
20.
Dibbens, Leanne M., Saul A. Mullen, Katherine L. Helbig, et al.. (2009). Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance. Human Molecular Genetics. 18(19). 3626–3631. 168 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

Rankless by CCL
2026