Kubisch, Christian

Analysis of shared heritability in common disorders of the brain

The Brainstorm Consortium, Anttila, V., Bulik-Sullivan, B., Finucane, H. K., Walters, R. K., Bras, J., Duncan, L., Escott-Price, V., Falcone, G. J., Gormley, P., et al. (2018) · Science

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,924

Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

Ramirez, A., Heimbach, A., Gründemann, J., Stiller, B., Hampshire, D., Cid, L. P., Goebel, I., Mubaidin, A. F., Wriekat, A.-L., Roeper, J., et al. (2006) · Nature Genetics

Parkinson's Disease Mechanisms and TreatmentsNeurological diseases and metabolism

Cited by 1,208

A Potassium Channel Mutation in Neonatal Human Epilepsy

Biervert, C., Schroeder, B. C., Kubisch, C., Berkovic, S. F., Propping, P., Jentsch, T. J., & Steinlein, O. K. (1998) · Science

Ion channel regulation and functionEpilepsy research and treatment

Cited by 1,073

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., et al. (2010) · Nature Genetics

BRCA gene mutations in cancerDNA Repair Mechanisms

Cited by 743

Genome-wide meta-analysis identifies new susceptibility loci for migraine

North American Brain Expression Consortium, Anttila, V., UK Brain Expression Consortium, the International Headache Genetics Consortium, Winsvold, B. S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., et al. (2013) · Nature Genetics

Migraine and Headache StudiesGenetic Associations and Epidemiology

Cited by 410

Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid

Laue, K., Pogoda, H.-M., Daniel, P. B., van Haeringen, A., Alanay, Y., von Ameln, S., Rachwalski, M., Morgan, T., Gray, M. J., Breuning, M. H., et al. (2011) · The American Journal of Human Genetics

Craniofacial Disorders and TreatmentsBone Metabolism and Diseases

Cited by 188

Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4

Brockschmidt, A., Todt, U., Ryu, S., Hoischen, A., Landwehr, C., Birnbaum, S., Frenck, W., Radlwimmer, B., Lichter, P., Engels, H., et al. (2007) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 170

Rare hereditary diseases with defects in DNA-repair

Knoch, J., Kamenisch, Y., Kubisch, C., & Berneburg, M. (2012) · European Journal of Dermatology

DNA Repair MechanismsGenetic and rare skin diseases.

Cited by 81

Serotonin reuptake inhibitors and serotonin transporter genotype modulate performance monitoring functions but not their electrophysiological correlates

Fischer, A. G., Endrass, T., Reuter, M., Kubisch, C., & Ullsperger, M. (2015) · The Journal of Neuroscience

Neurotransmitter Receptor Influence on BehaviorNeural and Behavioral Psychology Studies

Cited by 29

A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

Yilmaz, R., Beleza‐Meireles, A., Price, S., Oliveira, R., Kubisch, C., Clayton‐Smith, J., Szakszon, K., & Borck, G. (2015) · American Journal of Medical Genetics Part A

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 22