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Genetics

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

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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