World's Best Scientists 2026 revealed!

D-Index & Metrics

Genetics

D-Index
52
Citations
9614
World Ranking
3794
National Ranking
1636

Katherine L. Helbig publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Katherine L. Helbig sits on this spectrum.

45–54 publications: 6 scientists 55–64 publications: 10 scientists 65–74 publications: 35 scientists 75–84 publications: 84 scientists 85–94 publications: 102 scientists 95–104 publications: 151 scientists 105–114 publications: 175 scientists 115–124 publications: 203 scientists 125–134 publications: 217 scientists 135–144 publications: 205 scientists 145–154 publications: 193 scientists 155–164 publications: 188 scientists 165–174 publications: 170 scientists 175–184 publications: 178 scientists 185–194 publications: 164 scientists 195–204 publications: 173 scientists 205–214 publications: 159 scientists 215–224 publications: 134 scientists 225–234 publications: 143 scientists 235–244 publications: 105 scientists 245–254 publications: 114 scientists 255–264 publications: 92 scientists 265–274 publications: 88 scientists 275–284 publications: 87 scientists 285–294 publications: 80 scientists 295–304 publications: 62 scientists 305–314 publications: 75 scientists 315–324 publications: 67 scientists 325–334 publications: 60 scientists 335–344 publications: 52 scientists 345–354 publications: 40 scientists 355–364 publications: 48 scientists 365–374 publications: 47 scientists 375–384 publications: 46 scientists 385–394 publications: 31 scientists 395–404 publications: 27 scientists 405–414 publications: 40 scientists 415–424 publications: 30 scientists 425–434 publications: 43 scientists 435–444 publications: 29 scientists 445–454 publications: 14 scientists 455–464 publications: 28 scientists 465–474 publications: 21 scientists 475–484 publications: 21 scientists 485–494 publications: 22 scientists 495–504 publications: 17 scientists 505–514 publications: 12 scientists 515–524 publications: 11 scientists 525–534 publications: 8 scientists 535–544 publications: 8 scientists 545–554 publications: 14 scientists 555–564 publications: 4 scientists 565–574 publications: 11 scientists 575–584 publications: 5 scientists 585–594 publications: 11 scientists 595–604 publications: 12 scientists 605–614 publications: 7 scientists 615–624 publications: 6 scientists 625–634 publications: 10 scientists 635–644 publications: 9 scientists 645–654 publications: 10 scientists 655–664 publications: 6 scientists 665–674 publications: 6 scientists 675–684 publications: 6 scientists 685–694 publications: 4 scientists 695–702 publications: 6 scientists 703+ publications: 100 scientists
45 publications 703+

This scientist: 122 publications — 17th percentile

17% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 703 publications or more.

Katherine L. Helbig D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Katherine L. Helbig sits on this spectrum.

40–41 D-Index: 24 scientists 42–43 D-Index: 52 scientists 44–45 D-Index: 84 scientists 46–47 D-Index: 112 scientists 48–49 D-Index: 118 scientists 50–51 D-Index: 141 scientists 52–53 D-Index: 143 scientists 54–55 D-Index: 145 scientists 56–57 D-Index: 179 scientists 58–59 D-Index: 162 scientists 60–61 D-Index: 175 scientists 62–63 D-Index: 191 scientists 64–65 D-Index: 172 scientists 66–67 D-Index: 184 scientists 68–69 D-Index: 164 scientists 70–71 D-Index: 158 scientists 72–73 D-Index: 150 scientists 74–75 D-Index: 136 scientists 76–77 D-Index: 127 scientists 78–79 D-Index: 127 scientists 80–81 D-Index: 111 scientists 82–83 D-Index: 110 scientists 84–85 D-Index: 110 scientists 86–87 D-Index: 84 scientists 88–89 D-Index: 102 scientists 90–91 D-Index: 66 scientists 92–93 D-Index: 72 scientists 94–95 D-Index: 70 scientists 96–97 D-Index: 54 scientists 98–99 D-Index: 60 scientists 100–101 D-Index: 49 scientists 102–103 D-Index: 55 scientists 104–105 D-Index: 45 scientists 106–107 D-Index: 42 scientists 108–109 D-Index: 28 scientists 110–111 D-Index: 39 scientists 112–113 D-Index: 25 scientists 114–115 D-Index: 31 scientists 116–117 D-Index: 29 scientists 118–119 D-Index: 34 scientists 120–121 D-Index: 29 scientists 122–123 D-Index: 29 scientists 124–125 D-Index: 18 scientists 126–127 D-Index: 27 scientists 128–129 D-Index: 22 scientists 130–131 D-Index: 16 scientists 132–133 D-Index: 11 scientists 134–135 D-Index: 17 scientists 136–137 D-Index: 12 scientists 138–139 D-Index: 21 scientists 140–141 D-Index: 4 scientists 142–143 D-Index: 9 scientists 144–145 D-Index: 14 scientists 146–147 D-Index: 6 scientists 148–149 D-Index: 10 scientists 150–151 D-Index: 7 scientists 152–153 D-Index: 9 scientists 154–155 D-Index: 8 scientists 156–157 D-Index: 8 scientists 158–159 D-Index: 9 scientists 160+ D-Index: 96 scientists
40 D-Index 160+

This scientist: 52 D-Index — 14th percentile

14% of scientists in this discipline score the same or lower.

The last bar groups every scientist with 160 D-Index or more.

Overview

Katherine L. Helbig is affiliated with Children's Hospital of Philadelphia in the United States. Their research focuses primarily on the fields of Biochemistry, Genetics and Molecular Biology, and Medicine.

The scientist's work spans several subfields including Genetics, Molecular Biology, Psychiatry and Mental Health, Cardiology and Cardiovascular Medicine, and Clinical Biochemistry. Their research topics revolve around Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Epilepsy Research and Treatment, Ion Channel Regulation and Function, Cardiac Electrophysiology and Arrhythmias, Metabolism and Genetic Disorders, as well as Genomic Variations and Chromosomal Abnormalities.

Frequent publication venues for their work include:

  • Genetics in Medicine
  • Neurology
  • Brain
  • The American Journal of Human Genetics
  • Epilepsia

The scientist has contributed to multiple recent papers, such as:

  • Assessing the landscape of STXBP1-related disorders in 534 individuals, 2021, Brain
  • Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients, 2020, Science Advances
  • Current knowledge of SLC6A1-related neurodevelopmental disorders, 2020, Brain Communications
  • SCN3A-Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation, 2020, Annals of Neurology
  • Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders, 2020, Genome Medicine

Collaborations are notable with frequent co-authors including:

  • Ingo Helbig
  • Shiva Ganesan
  • Peter D. Galer
  • Sarah McKeown
  • Michael C. Kaufman

Best Publications

  • 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

    Ingo Helbig;Heather C. Mefford;Andrew J. Sharp;Michel Guipponi

  • Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

    Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada

  • Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

    Heather C. Mefford;Hiltrud Muhle;Philipp Ostertag;Sarah von Spiczak

  • Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

    Carolien G F De Kovel;Holger Trucks;Ingo Helbig;Heather C. Mefford

  • Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

    Katherine L. Helbig;Kelly D. Farwell Hagman;Deepali N. Shinde;Cameron Mroske

  • STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

    Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi

  • De novo variants in neurodevelopmental disorders with epilepsy.

    Henrike O. Heyne;Tarjinder Singh;Tarjinder Singh;Hannah Stamberger;Rami Abou Jamra

  • GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects

    Konrad Platzer;Hongjie Yuan;Hannah Schütz;Alexander Winschel

  • Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

    Leanne M. Dibbens;Saul Mullen;Ingo Helbig;Heather C. Mefford

  • GRIN2A-related disorders : genotype and functional consequence predict phenotype

    Vincent Strehlow;Henrike O Heyne;Henrike O Heyne;Henrike O Heyne;Danique R M Vlaskamp;Katie F M Marwick

  • Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy

    Johannes R. Lemke;Kirsten Geider;Katherine L. Helbig;Henrike O. Heyne

  • De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability

    Sébastien Küry;Geeske M van Woerden;Thomas Besnard;Martina Proietti Onori

  • Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies

    Katrine Johannesen;Carla Marini;Siona Pfeffer;Rikke S. Møller;Rikke S. Møller

  • Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease.

    Sara Zagaglia;Sara Zagaglia;Christina Selch;Jelena Radic Nisevic;Davide Mei

  • Genetic epilepsy with febrile seizures plus: Refining the spectrum.

    Yue-Hua Zhang;Rosemary Burgess;Jodie P. Malone;Georgie C. Glubb

  • Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

    Yuanyuan Liu;Julian Schubert;Lukas Sonnenberg;Katherine L Helbig

  • Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

    Dennis Lal;Ann-Kathrin Ruppert;Holger Trucks;Herbert Schulz

  • HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

    Carla Marini;Alessandro Porro;Agnès Rastetter;Carine Dalle

  • Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

    Erica D. Smith;Kelly Radtke;Mari Rossi;Deepali N. Shinde

  • The role of genetic testing in epilepsy diagnosis and management.

    Yvonne G Weber;Saskia Biskup;Katherine L Helbig;Sarah Von Spiczak

Frequent Co-Authors

Ingo Helbig
Ingo Helbig Children's Hospital of Philadelphia
Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Renzo Guerrini
Renzo Guerrini University of Florence
Gaetan Lesca
Gaetan Lesca Claude Bernard University Lyon 1
Pasquale Striano
Pasquale Striano University of Genoa
Heather C. Mefford
Heather C. Mefford University of Washington
Christel Depienne
Christel Depienne Essen University Hospital
Peter De Jonghe
Peter De Jonghe University of Antwerp

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