Tzschach, Andreas

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

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Najmabadi, H., Hu, H., Garshasbi, M., Zemojtel, T., Abedini, S. S., Chen, W., Hosseini, M., Behjati, F., Haas, S., Jamali, P., et al. (2011) · Nature

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 965

Mutations in the JARID1C Gene, Which Is Involved in Transcriptional Regulation and Chromatin Remodeling, Cause X-Linked Mental Retardation

Jensen, L. R., Amende, M., Gurok, U., Moser, B., Gimmel, V., Tzschach, A., Janecke, A. R., Tariverdian, G., Chelly, J., Fryns, J.-P., et al. (2005) · The American Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 373

The molecular and phenotypic spectrum of IQSEC 2‐related epilepsy

Zerem, A., Haginoya, K., Lev, D., Blumkin, L., Kivity, S., Linder, I., Shoubridge, C., Palmer, E. E., Field, M., Boyle, J., et al. (2016) · Epilepsia

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 59

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

Hu, H., Wrogemann, K., Kalscheuer, V., Tzschach, A., Richard, H., Haas, S. A., Menzel, C., Bienek, M., Froyen, G., Raynaud, M., et al. (2009) · The HUGO Journal

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 49

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

Braunholz, D., Hullings, M., Gil-Rodríguez, M. C., Fincher, C. T., Mallozzi, M. B., Loy, E., Albrecht, M., Kaur, M., Limon, J., Rampuria, A., et al. (2012) · European Journal of Human Genetics

Genomics and Rare DiseasesDNA Repair Mechanisms

Cited by 33