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Genetics

D-Index
76
Citations
19701
World Ranking
1835
National Ranking
62

Medicine

D-Index
84
Citations
23042
World Ranking
15226
National Ranking
504

Overview

Eric Haan is affiliated with the University of Adelaide in Australia and conducts research primarily in the fields of Medicine and Biochemistry, Genetics and Molecular Biology. Their work spans several subfields including Cardiology and Cardiovascular Medicine, Molecular Biology, Genetics, Neurology, and Pulmonary and Respiratory Medicine.

Their research topics include cardiomyopathy and myosin studies, cardiovascular effects of exercise, cardiac pacing and defibrillation studies, gynecological conditions and treatments, Parkinson's disease mechanisms and treatments, neurological diseases and metabolism, as well as Alzheimer's disease research and treatments.

Eric Haan has published in a variety of scientific venues. Frequent publication venues include Circulation Genomic and Precision Medicine, American Journal of Medical Genetics Part A, bioRxiv (Cold Spring Harbor Laboratory), Biological Psychiatry, and Science Translational Medicine.

Some of the recent papers authored or co-authored by Eric Haan are:

  • Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood, 2022, Biological Psychiatry
  • Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema, 2022, Science Translational Medicine
  • Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant, 2022, Circulation Genomic and Precision Medicine
  • Functional genomics analysis identifies loss of HNF1B function as a cause of Mayer-Rokitansky-Küster-Hauser syndrome, 2022, Human Molecular Genetics
  • Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder, 2022, npj Genomic Medicine

Eric Haan collaborates frequently with a core group of researchers. These frequent co-authors include Richard D. Bagnall, Tina Thompson, Gemma Correnti, Diane Fatkin, and Nicholas Pachter.

Best Publications

  • Reproductive Technologies and the Risk of Birth Defects

    Michael J. Davies;Vivienne M. Moore;Kristyn J. Willson;Phillipa Van Essen

  • Refining analyses of copy number variation identifies specific genes associated with developmental delay

    Bradley P. Coe;Kali Witherspoon;Jill A. Rosenfeld;Bregje W M Van Bon;Bregje W M Van Bon

  • A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

    Patrick S Tarpey;Raffaella Smith;Erin Pleasance;Annabel Whibley

  • A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

    Santhosh Girirajan;Jill A. Rosenfeld;Gregory M. Cooper;Francesca Antonacci

  • Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

    Holly A.F. Stessman;Bo Xiong;Bo Xiong;Bradley P. Coe;Tianyun Wang

  • X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment.

    Leanne M. Dibbens;Leanne M. Dibbens;Patrick S. Tarpey;Kim Hynes;Kim Hynes;Marta A. Bayly

  • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.

    M Muenke;K W Gripp;D M McDonald-McGinn;K Gaudenz

  • Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene

    Julian R. Sampson;Magitha M. Maheshwar;Richard Aspinwall;Peter Thompson

  • An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation

    M. Upadhyaya;S. M. Huson;M. Davies;N. Thomas

  • Frontotemporal dementia and its subtypes: a genome-wide association study

    Raffaele Ferrari;Raffaele Ferrari;Dena G Hernandez;Dena G Hernandez;Michael A Nalls;Jonathan D Rohrer

  • Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals

    Susan Shanley;John Ratcliffe;Athel Hockey;Eric Haan

  • A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

    Laing Ng;Wilton Sd;Akkari Pa;Akkari Pa;Dorosz S

  • Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

    Vera M. Kalscheuer;Jiong Tao;Andrew Donnelly;Georgina Hollway

  • Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on wnt signaling

    Lot Snijders Blok;Erik Madsen;Jane Juusola;Christian Gilissen

  • PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.

    Sarah E. Heron;Bronwyn E. Grinton;Sara Kivity;Zaid Afawi

  • What constitutes cerebral palsy

    Nadia Badawi;Linda Watson;Beverly Petterson;Eve Blair

  • The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

    Patrizia D'Adamo;Lucia Fassone;Agi Gedeon;Emiel A.M. Janssen

  • The risk of mortality or cerebral palsy in twins: a collaborative population-based study.

    Ann I Scher;Bev Petterson;Eve Blair;Jonas H Ellenberg

  • X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    H. Hu;S. A. Haas;J. Chelly;J. Chelly;H. Van Esch

  • Perinatal risk factors for developmental dysplasia of the hip

    Annabelle Chan;Kieran A McCaul;Peter J Cundy;Eric A Haan

Frequent Co-Authors

Jozef Gecz
Jozef Gecz University of Adelaide
John C. Mulley
John C. Mulley Bangor University
Grant R. Sutherland
Grant R. Sutherland University of Adelaide
David F. Callen
David F. Callen University of Adelaide
Vera M. Kalscheuer
Vera M. Kalscheuer Max Planck Society
Ingrid E. Scheffer
Ingrid E. Scheffer University of Melbourne
Stefan A. Haas
Stefan A. Haas Max Planck Society
Ravi Savarirayan
Ravi Savarirayan Murdoch Children's Research Institute
Elizabeth Baker
Elizabeth Baker Pathwest Laboratory Medicine
Evan E. Eichler
Evan E. Eichler University of Washington

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