Juliane Hoyer
Friedrich-Alexander-Universität Erlangen-Nürnberg(DE)Universitätsklinikum Erlangen(DE)Comprehensive Cancer Center Erlangen(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, BRCA gene mutations in cancer, Genomics and Rare Diseases, Congenital heart defects research
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus(2011)475 cited
- → Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation(2006)445 cited
- → Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)(2007)315 cited
- → Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology(2017)273 cited
- → Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability(2012)264 cited