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Eric Haan | doi.page

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Eric Haan

The University of Adelaide(AU)

Publications by Year

Research Areas

Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Prenatal Screening and Diagnostics, Metabolism and Genetic Disorders

Most-Cited Works

→ Reproductive Technologies and the Risk of Birth Defects(2012)810 cited
→ Refining analyses of copy number variation identifies specific genes associated with developmental delay(2014)744 cited
→ A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay(2010)671 cited
→ A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation(2009)614 cited
→ Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases(2017)571 cited
→ X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment(2008)444 cited

→ Frontotemporal dementia and its subtypes: a genome-wide association study(2014)

400 cited

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.(1997)

→ 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(2006)360 cited

→ A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy(1995)355 cited