Engels, Hartmut

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

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

Berkel, S., Marshall, C. R., Weiss, B., Howe, J., Roeth, R., Moog, U., Endris, V., Roberts, W., Szatmari, P., Pinto, D., et al. (2010) · Nature Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 563

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

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Hsieh, T.-C., Bar-Haim, A., Moosa, S., Ehmke, N., Gripp, K. W., Pantel, J. T., Danyel, M., Mensah, M. A., Horn, D., Rosnev, S., et al. (2022) · Nature Genetics

Genomics and Rare DiseasesFace recognition and analysis

Cited by 233

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

Phenotypic spectrum associated with CASK loss-of-function mutations

Moog, U., Kutsche, K., Kortüm, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., et al. (2011) · Journal of Medical Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 135

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity

Witteveen, J. S., Willemsen, M. H., Dombroski, T. C. D., van Bakel, N. H. M., Nillesen, W. M., van Hulten, J. A., Jansen, E. J. R., Verkaik, D., Veenstra-Knol, H. E., van Ravenswaaij-Arts, C. M. A., et al. (2016) · Nature Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 128

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

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 61

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID

Redler, S., Strom, T. M., Wieland, T., Cremer, K., Engels, H., Distelmaier, F., Schaper, J., Küchler, A., Lemke, J. R., Jeschke, S., et al. (2017) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 38