Juliane Hoyer

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

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf et al. · The Lancet · 2012 · 1.1K citations · Full text

Genetic Mutations, Mendelian Disorder, Genetic Disorder +7

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

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

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

Anita Rauch, Juliane Hoyer, Sabine Guth et al. · American Journal of Medical Genetics Part A · 2006 · 442 citations · Full text

Genetic Testing, Genetics, Pathology +21

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

Christiane Zweier, Maarit Peippo, Juliane Hoyer et al. · The American Journal of Human Genetics · 2007 · 312 citations · Full text

Clinical Disorders, Psychiatry, Pitt-hopkins Syndrome +6

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, Sabine Endele et al. · The American Journal of Human Genetics · 2012 · 257 citations · Full text

Chromatin, Developmental Biology, Chromatin Structure +11