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Genetics

D-Index
55
Citations
20247
World Ranking
3541
National Ranking
1538

Overview

Erin L. Heinzen is affiliated with the University of North Carolina at Chapel Hill in the United States. Their research primarily spans the fields of Biochemistry, Genetics, and Molecular Biology, with significant contributions to Medicine as well. The scientist's work focuses on several subfields, including Genetics, Molecular Biology, Psychiatry and Mental Health, Pediatrics, Perinatology and Child Health, and Cellular and Molecular Neuroscience.

Heinzen's research covers a range of topics, predominantly in Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, and Epilepsy research and treatment. Additional areas of study include Genomic variations and chromosomal abnormalities, Hedgehog Signaling Pathway Studies, Ion Transport and Channel Regulation, and Neuroscience and Neuropharmacology Research.

Recent publications by Erin L. Heinzen include:

  • Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17,458 subjects, 2020, Brain
  • Somatic variants in diverse genes leads to a spectrum of focal cortical malformations, 2022, Brain
  • Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy, 2023, JAMA Neurology
  • Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals, 2021, The American Journal of Human Genetics
  • Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals, 2023, Nature Communications

Frequent co-authors in Heinzen's work reflect a collaborative network that includes:

  • Samuel F. Berkovic
  • Gianpiero L. Cavalleri
  • Ingrid E. Scheffer
  • Chantal Depondt
  • Ingo Helbig

The scientist's publications have appeared predominantly in the following venues:

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

Additionally, Erin L. Heinzen has contributed to book publications, including a title released by Cambridge University Press:

  • How We Got to Where We're Going, 2021

Best Publications

  • Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance.

    Dongliang Ge;Jacques Fellay;Alexander J. Thompson;Jason S. Simon

  • Analysis of shared heritability in common disorders of the brain

    Verneri Anttila;Verneri Anttila;Brendan Bulik-Sullivan;Brendan Bulik-Sullivan;Hilary K. Finucane;Raymond K. Walters;Raymond K. Walters

  • De novo mutations in epileptic encephalopathies

    Andrew S. Allen;Samuel F. Berkovic;Patrick Cossette;Norman Delanty

  • HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

    Mark McCormack;Ana Alfirevic;Stephane Bourgeois;John J. Farrell

  • Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

    Slavé Petrovski;Quanli Wang;Erin L. Heinzen;Andrew S. Allen

  • A genome-wide investigation of SNPs and CNVs in schizophrenia

    Anna C. Need;Dongliang Ge;Michael E. Weale;Jessica Maia

  • Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Annapurna Poduri;Annapurna Poduri;Gilad D. Evrony;Gilad D. Evrony;Xuyu Cai;Xuyu Cai;Princess Christina Elhosary

  • 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

  • De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

    Erin L Heinzen;Kathryn J Swoboda;Yuki Hitomi;Fiorella Gurrieri

  • Tissue-Specific Genetic Control of Splicing: Implications for the Study of Complex Traits

    Erin L Heinzen;Dongliang Ge;Kenneth D Cronin;Jessica M Maia

  • Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.

    Erin L. Heinzen;Rodney A. Radtke;Thomas J. Urban;Gianpiero L. Cavalleri

  • De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

    Candace T. Myers;Jacinta M. McMahon;Amy L. Schneider;Slavé Petrovski;Slavé Petrovski

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

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

  • Distinct neurological disorders with ATP1A3 mutations

    Erin L Heinzen;Alexis Arzimanoglou;Allison Brashear;Steven J Clapcote

  • A roadmap for precision medicine in the epilepsies

    S. F. Berkovic;I. E. Scheffer;S. Petrou;N. Delanty

  • Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.

    Andrew S Allen;Susannah T Bellows;Samuel F Berkovic;Joshua Bridgers

  • Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

    M. Chiara Manzini;Dimira E. Tambunan;Dimira E. Tambunan;R. Sean Hill;R. Sean Hill;Tim W. Yu;Tim W. Yu

  • The copy number variation landscape of congenital anomalies of the kidney and urinary tract

    Miguel Verbitsky;Rik Westland;Alejandra Perez;Krzysztof Kiryluk

  • The characterization of twenty sequenced human genomes.

    Kimberly Pelak;Kevin V. Shianna;Dongliang Ge;Jessica M. Maia

  • 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

David Goldstein
David Goldstein University of New South Wales
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Slavé Petrovski
Slavé Petrovski AstraZeneca (United Kingdom)
Kevin V. Shianna
Kevin V. Shianna Duke University
Norman Delanty
Norman Delanty Beaumont Hospital
Samuel F. Berkovic
Samuel F. Berkovic University of Melbourne
Dongliang Ge
Dongliang Ge Apostle Diagnostics
Daniel H. Lowenstein
Daniel H. Lowenstein University of California, San Francisco
Sanjay M. Sisodiya
Sanjay M. Sisodiya University College London
Chantal Depondt
Chantal Depondt Université Libre de Bruxelles

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