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Juliane Hoyer | Researchclopedia

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Juliane Hoyer

Friedrich-Alexander-Universität Erlangen-Nürnberg ORCID

68

Works

5,751

Citations

33

h-index

48

i10-index

Research Topics

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities BRCA gene mutations in cancer

Affiliations

Hudson Institute2019–2019

Friedrich-Alexander-Universität Erlangen-Nürnberg2006–2025

Universitätsmedizin Greifswald2019–2019

Universität Greifswald2018–2021

Universitätsklinikum Erlangen2007–2025

Top Works

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch,Dagmar Wieczorek,et al.

20121,063 citations

Genomics and Rare Diseases

Congenital heart defects research

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont,Alexandre Reymond,et al.

2011476 citations

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation

Anita Rauch,Juliane Hoyer,et al.

2006445 citations

Haploinsufficiency of TCF4 Causes Syndromal Mental Retardation with Intermittent Hyperventilation (Pitt-Hopkins Syndrome)

Christiane Zweier,Maarit Peippo,et al.

2007315 citations

Childhood cancer predisposition syndromes—A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and Hematology

Tim Ripperger,Stefan Bielack,et al.

2017273 citations

Haploinsufficiency of ARID1B, a Member of the SWI/SNF-A Chromatin-Remodeling Complex, Is a Frequent Cause of Intellectual Disability

Juliane Hoyer,Arif B. Ekici,et al.

2012264 citations

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders

Miriam S. Reuter,Hasan Tawamie,et al.

2017242 citations

Genetic and neurodevelopmental spectrum of <i>SYNGAP1</i>-associated intellectual disability and epilepsy

Cyril Mignot,Celina von Stülpnagel,et al.

2016197 citations

De Novo Mutations in the Genome Organizer CTCF Cause Intellectual Disability

Anne Gregor,Martin Oti,et al.

2013170 citations