World's Best Scientists 2026 revealed!

D-Index & Metrics

Neuroscience

D-Index
78
Citations
22471
World Ranking
1762
National Ranking
852

Genetics

D-Index
75
Citations
21263
World Ranking
1897
National Ranking
870

Overview

Ingo Helbig is affiliated with the Children's Hospital of Philadelphia in the United States. Their research spans several scientific disciplines, primarily focusing on the intersection of genetics, molecular biology, and medicine. With over 300 publications, they have contributed substantially to the fields of biochemistry, genetics, and molecular biology, as well as to medicine.

Their main fields of study include:

  • Biochemistry, Genetics and Molecular Biology
  • Medicine

Within these broader areas, they have focused on subfields such as:

  • Genetics
  • Molecular Biology
  • Psychiatry and Mental health
  • Cardiology and Cardiovascular Medicine
  • Neurology

The scientist's primary research topics cover a range of areas including:

  • Genomics and Rare Diseases
  • Genetics and Neurodevelopmental Disorders
  • Epilepsy research and treatment
  • Ion channel regulation and function
  • Genomic variations and chromosomal abnormalities
  • Metabolism and Genetic Disorders
  • Cardiac electrophysiology and arrhythmias

Ingo Helbig's recent published papers of note include:

  • "The Human Phenotype Ontology in 2021" (2020) published in Nucleic Acids Research
  • "Molecular landscapes of human hippocampal immature neurons across lifespan" (2022) published in Nature
  • "The Human Phenotype Ontology in 2024: phenotypes around the world" (2023) published in Nucleic Acids Research
  • "Analyzing 2,589 child neurology telehealth encounters necessitated by the COVID-19 pandemic" (2020) published in Neurology
  • "Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress" (2022) published in Epilepsia

Their frequent collaborators include Sarah M. Ruggiero, Julie Xian, Michael C. Kaufman, Shiva Ganesan, and Shridhar Parthasarathy. These partnerships have contributed to a diverse range of research projects and publications.

Publications by Ingo Helbig are frequently featured in specific scientific venues such as:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Epilepsia
  • Neurology
  • Brain
  • The American Journal of Human Genetics

Best Publications

  • The Human Phenotype Ontology in 2021

    Sebastian Köhler;Michael Gargano;Nicolas Matentzoglu;Leigh C. Carmody

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • 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

  • Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

    Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner

  • Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    Bassel Abou-Khalil;Pauls Auce;Andreja Avbersek;Melanie Bahlo

  • Molecular landscapes of human hippocampal immature neurons across lifespan

    Unknown

  • 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

  • De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié

  • STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy

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

  • The Human Phenotype Ontology in 2024: phenotypes around the world

    Unknown

  • Navigating the channels and beyond: unravelling the genetics of the epilepsies.

    Ingo Helbig;Ingrid E Scheffer;Ingrid E Scheffer;John C Mulley;Samuel F Berkovic

  • De novo variants in neurodevelopmental disorders with epilepsy.

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

  • GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

    Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann

  • Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

    Richard Anney;A. Avbersek;D. Balding;L. Baum

  • De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber

  • De novo mutations in HCN1 cause early infantile epileptic encephalopathy

    Caroline Nava;Carine Dalle;Agnès Rastetter;Pasquale Striano

  • 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

  • Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

    Silke Appenzeller;Rudi Balling;Nina Barisic;Stéphanie Baulac

Frequent Co-Authors

Rikke S. Møller
Rikke S. Møller University of Southern Denmark
Sarah Weckhuysen
Sarah Weckhuysen University of Antwerp
Ulrich Stephani
Ulrich Stephani Kiel University
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Katherine L. Helbig
Katherine L. Helbig Children's Hospital of Philadelphia
Yvonne G. Weber
Yvonne G. Weber University of Tübingen
Peter De Jonghe
Peter De Jonghe University of Antwerp
Renzo Guerrini
Renzo Guerrini University of Florence
Pasquale Striano
Pasquale Striano University of Genoa
Heather C. Mefford
Heather C. Mefford University of Washington

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