Hoyer, Juliane

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

Rauch, A., Wieczorek, D., Graf, E., Wieland, T., Endele, S., Schwarzmayr, T., Albrecht, B., Bartholdi, D., Beygo, J., Di Donato, N., et al. (2012) · The Lancet

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 1,041

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

Jacquemont, S., Reymond, A., Zufferey, F., Harewood, L., Walters, R. G., Kutalik, Z., Martinet, D., Shen, Y., Valsesia, A., Beckmann, N. D., et al. (2011) · Nature

Genomic variations and chromosomal abnormalitiesGenome Rearrangement Algorithms

Cited by 462

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

Zweier, C., Peippo, M. M., Hoyer, J., Sousa, S., Bottani, A., Clayton-Smith, J., Reardon, W., Saraiva, J., Cabral, A., Göhring, I., et al. (2007) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 317

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

Hoyer, J., Ekici, A. B., Endele, S., Popp, B., Zweier, C., Wiesener, A., Wohlleber, E., Dufke, A., Rossier, E., Petsch, C., et al. (2012) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersChromatin Remodeling and Cancer

Cited by 263

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Gregor, A., Albrecht, B., Bader, I., Bijlsma, E. K., Ekici, A. B., Engels, H., Hackmann, K., Horn, D., Hoyer, J., Klapecki, J., et al. (2011) · BMC Medical Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 121

Chromatin-Remodeling-Factor ARID1B Represses Wnt/β-Catenin Signaling

Vasileiou, G., Ekici, A. B., Uebe, S., Zweier, C., Hoyer, J., Engels, H., Behrens, J., Reis, A., & Hadjihannas, M. V. (2015) · The American Journal of Human Genetics

Chromatin Remodeling and CancerWnt/β-catenin signaling in development and cancer

Cited by 81

Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

Smogavec, M., Cleall, A., Hoyer, J., Lederer, D., Nassogne, M.-C., Palmer, E. E., Deprez, M., Benoit, V., Maystadt, I., Noakes, C., et al. (2016) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 56

Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features

Li, D., Wang, Q., Bayat, A., Battig, M. R., Zhou, Y., Bosch, D. G. M., van Haaften, G., Granger, L., Petersen, A. K., Pérez-Jurado, L. A., et al. (2024) · Journal of Clinical Investigation

Genetics and Neurodevelopmental DisordersRNA Research and Splicing

Cited by 46