Katherine L. Helbig

9.7k citations

42 papers · 1.6k indexed · h-index 20

Genetics top 2%
- Genomics and Rare Diseases 24
- Genetics and Neurodevelopmental Disorders 18
- Genomic variations and chromosomal abnormalities 16
Psychiatry and Mental health top 5%
- Epilepsy research and treatment 14
Cellular and Molecular Neuroscience top 10%
- Neuroscience and Neuropharmacology Research 3
Clinical Biochemistry top 10%
Molecular Biology
- Ion channel regulation and function 6
Pathology and Forensic Medicine
- Genetic factors in colorectal cancer 3
Cardiology and Cardiovascular Medicine
- Cardiac electrophysiology and arrhythmias 3

Co-authors: Ingo Helbig Sarah von Spiczak Sha Tang Heather C. Mefford Deepali N. Shinde André Franke Zöe Powis Kelly D. Farwell Hagman
Cited by: Genetics Psychiatry and Mental health Cellular and Molecular Neuroscience
Journals: Bioinformatics (1 paper)Brain (1 paper)Annals of Neurology (1 paper)
Partner nations: United States Germany United Kingdom

In The Last Decade

Katherine L. Helbig

42 papers receiving 1.5k citations

Peers

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

The 25 scholars most cited alongside Katherine L. Helbig, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Katherine L. Helbig Line = papers co-authored together Katherine L. Helbig links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	High-throughput evaluation of epilepsy-associated KCNQ2 variants reveals functional and pharmacological heterogeneity JCI Insight ·Carlos G. Vanoye,Reshma R. Desai,Zhigang Ji,Sneha Adusumilli,Nirvani Jairam,Nora F. Ghabra,Nishtha Joshi,Eryn Fitch,Katherine L. Helbig,Dianalee McKnight,Amanda Lindy,Fanggeng Zou,Ingo Helbig,Edward C. Cooper,Alfred L. George	2022	28
2	Caregiver assessment of quality of life in individuals with genetic developmental and epileptic encephalopathies Developmental Medicine & Child Neurology ·Stacey Cohen,Ingo Helbig,Michael C. Kaufman,Leah Schust Myers,Laura Conway,Katherine L. Helbig	2022	17
3	IL1RAPL1 Gene Deletion in a Female Patient with Developmental Delay and Continuous Spike-Wave during Sleep Evan Jiang,Mark P. Fitzgerald,Katherine L. Helbig,Ethan M. Goldberg	2021	2
4	Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data European Journal of Human Genetics ·David Lewis‐Smith,Shiva Ganesan,Peter D. Galer,Katherine L. Helbig,Sarah McKeown,Margaret O’Brien,Pouya Khankhanian,Michael C. Kaufman,Alexander K. Gonzalez,Alex Felmeister,Roland Krause,Colin A. Ellis,Ingo Helbig	2021	8
5	Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy International Journal of Molecular Sciences ·Géza Berecki,Katherine L. Helbig,Tyson L. Ware,Bronwyn E. Grinton,Cara Skraban,Eric D. Marsh,Samuel F. Berkovic,Steven Petrou	2020	10
6	A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation Genetics in Medicine ·Shiva Ganesan,Peter D. Galer,Katherine L. Helbig,Sarah McKeown,Margaret O’Brien,Alexander K. Gonzalez,Alex Felmeister,Pouya Khankhanian,Colin A. Ellis,Ingo Helbig	2020	17
7	Mutations inSCN3Acause early infantile epileptic encephalopathy Annals of Neurology ·Tariq Zaman,Ingo Helbig,Ivana Babič Božović,Suzanne D. DeBrosse,A. Christina Bergqvist,Kimberly Wallis,Līvija Medne,Aleš Maver,Borut Peterlin,Katherine L. Helbig,Xiaohong Zhang,Ethan M. Goldberg	2018	68
8	Diagnostic exome sequencing identifies GLI 2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies Clinical Case Reports ·Samin A. Sajan,Zöe Powis,Katherine L. Helbig,Honey Nagakura,LaDonna Immken,Sha Tang,Wendy Alcaraz	2018	3
9	Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9 European Journal of Human Genetics ·Fanny Kortüm,Rami Abou Jamra,Malik Alawi,Susan A. Berry,Guntram Borck,Katherine L. Helbig,Sha Tang,Dagmar Huhle,Georg Christoph Korenke,Malavika Hebbar,Anju Shukla,Katta M. Girisha,Maja Steinlin,Sandra Waldmeier-Wilhelm,Martino Montomoli,Renzo Guerrini,Johannes R. Lemke,Kerstin Kutsche	2018	23
10	De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function European Journal of Human Genetics ·Matthis Synofzik,Katherine L. Helbig,Florian Harmuth,Tine Deconinck,Pranoot Tanpaiboon,Bo Sun,Wenting Guo,Ruiwu Wang,Erika Palmaer,Sha Tang,G. Bradley Schaefer,Janina Gburek‐Augustat,Stephan Züchner,Ingeborg Krägeloh‐Mann,Jonathan Baets,Peter De Jonghe,Peter Bauer,S.R. Wayne Chen,Lüdger Schöls,Rebecca Schüle	2018	30
11	Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy Genetics in Medicine ·Katherine L. Helbig,Kelly D. Farwell Hagman,Deepali N. Shinde,Cameron Mroske,Zöe Powis,Shuwei Li,Sha Tang,Ingo Helbig	2016	217
12	Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases Genetics in Medicine ·Kelly D. Farwell Hagman,Deepali N. Shinde,Cameron Mroske,Erica D. Smith,Kelly Radtke,Layla Shahmirzadi,Dima El‐Khechen,Zöe Powis,Elizabeth Chao,Wendy Alcaraz,Katherine L. Helbig,Samin A. Sajan,Mari Rossi,Hsiao‐Mei Lu,Robert Huether,Shuwei Li,Sitao Wu,Mark E. Nuñes,Sha Tang	2016	34
13	Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping Clinical Genetics ·J. Amos,Linda Huang,Julien Thévenon,A. Kariminedjad,Chandree L. Beaulieu,Alice Masurel‐Paulet,Hossein Najmabadi,Zohreh Fattahi,Maryam Beheshtian,Seyed Hassan Tonekaboni,Sha Tang,Katherine L. Helbig,W. Alcaraz,Jean‐Baptiste Rivière,(unknown),A. Micheil Innes,R.R. Lebel,Kym M. Boycott	2016	16
14	15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria Epilepsy Research ·Andrey Kirov,Petia Dimova,Албена Тодорова,Heather C. Mefford,Tihomir Todorov,Gergana Saraylieva,Veneta Bojinova,Vanio Mitev,Katherine L. Helbig	2013	7
15	Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies Epilepsy Research ·Johanna Jähn,Sarah von Spiczak,Hiltrud Muhle,Tanja Obermeier,André Franke,Heather C. Mefford,Ulrich Stephani,Katherine L. Helbig	2013	18
16	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 ·Katherine L. Helbig,Michael Nothnagel,Jochen Hampe,Tobias Balschun,Susanna Nikolaus,Stefan Schreiber,André Franke,Ute Nöthlings	2012	21
17	Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome Epilepsia ·Hiltrud Muhle,Heather C. Mefford,Tanja Obermeier,Sarah von Spiczak,Evan E. Eichler,Ulrich Stephani,Thomas Sander,Katherine L. Helbig	2011	22
18	Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies PLoS Genetics ·Heather C. Mefford,Hiltrud Muhle,P Ostertag,Sarah von Spiczak,Karen Buysse,Carl Baker,André Franke,Alain Malafosse,Pierre Genton,Pierre Thomas,Christina A. Gurnett,Stefan Schreiber,Alexander G. Bassuk,Michel Guipponi,Ulrich Stephani,Katherine L. Helbig,Evan E. Eichler	2010	327
19	Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance Human Molecular Genetics ·Leanne M. Dibbens,Saul A. Mullen,Katherine L. Helbig,Heather C. Mefford,Marta A. Bayly,Susannah T. Bellows,Costin Leu,Holger Trucks,Tanja Obermeier,Michael Wittig,André Franke,Hande Çağlayan,Zühal Yapıcı,T. Sander,Evan E. Eichler,Ingrid E. Scheffer,John C. Mulley,Samuel F. Berkovic	2009	168
20	Duplication of Chrnb2 in a Patient with Early-Onset Absence Epilepsy Hiltrud Muhle,Katherine L. Helbig,H. Tönnies,Ines Steinich,Sarah von Spiczak,André Franke,Stefan Schreiber,Reiner Siebert,Ulrich Stephani,Tara L. Sander	2009	1

About Katherine L. Helbig

Katherine L. Helbig is a scholar working on Genetics, Psychiatry and Mental health and Cellular and Molecular Neuroscience, having authored 42 papers that have together received 1.6k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (24 papers), Genetics and Neurodevelopmental Disorders (18 papers), Genomic variations and chromosomal abnormalities (16 papers), Epilepsy research and treatment (14 papers), Ion channel regulation and function (6 papers), Neuroscience and Neuropharmacology Research (3 papers), Genetic factors in colorectal cancer (3 papers) and Cardiac electrophysiology and arrhythmias (3 papers). The work is most often cited by research in Genetics (1.1k citations), Psychiatry and Mental health (411 citations) and Cellular and Molecular Neuroscience (232 citations). Katherine L. Helbig has collaborated with scholars based in United States, Germany and United Kingdom. Frequent 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. Their work appears in journals such as Bioinformatics, Brain and Annals of Neurology.

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