Sticht, Heinrich

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 STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., et al. (2007) · The American Journal of Human Genetics

Congenital limb and hand anomaliesOcular Disorders and Treatments

Cited by 361

The CD83 molecule - an important immune checkpoint

Grosche, L., Knippertz, I., König, C., Royzman, D., Wild, A. B., Zinser, E., Sticht, H., Muller, Y. A., Steinkasserer, A., & Lechmann, M. (2020) · Frontiers in Immunology

T-cell and B-cell ImmunologyCancer Immunotherapy and Biomarkers

Cited by 138

A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency

Buchert, R., Tawamie, H., Smith, C., Uebe, S., Innes, A. M., Al Hallak, B., Ekici, A. B., Sticht, H., Schwarze, B., Lamont, R. E., et al. (2014) · The American Journal of Human Genetics

Metabolism and Genetic DisordersNeurological diseases and metabolism

Cited by 132

Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

Reuter, M. S., Jobling, R., Chaturvedi, R. R., Manshaei, R., Costain, G., Heung, T., Curtis, M., Hosseini, S. M., Liston, E., Lowther, C., et al. (2019) · Genetics in Medicine

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 85

Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases

Haskamp, S., Bruns, H., Hahn, M., Hoffmann, M., Gregor, A., Löhr, S., Hahn, J., Schauer, C., Ringer, M., Flamann, C., et al. (2020) · The American Journal of Human Genetics

Psoriasis: Treatment and PathogenesisNeutrophil, Myeloperoxidase and Oxidative Mechanisms

Cited by 84

Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures

Study, D. D. D. (., Zweier, M., Begemann, A., McWalter, K., Cho, M. T., Abela, L., Banka, S., Behring, B., Berger, A., Brown, C. W., et al. (2019) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 71

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

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

Klöckner, C., Sticht, H., Zacher, P., Popp, B., Babcock, H. E., Bakker, D. P., Barwick, K., Bonfert, M. V., Bönnemann, C. G., Brilstra, E. H., et al. (2021) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersEpilepsy research and treatment

Cited by 47

N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics

Abela, L., Simmons, L., Steindl, K., Schmitt, B., Mastrangelo, M., Joset, P., Papuc, M., Sticht, H., Baumer, A., Crowther, L. M., et al. (2016) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 43

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

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

The missing link: ARID1B non-truncating variants causing Coffin-Siris syndrome due to protein aggregation

Bosch, E., Güse, E., Kirchner, P., Winterpacht, A., Walther, M., Alders, M., Kerkhof, J., Ekici, A. B., Sticht, H., Sadikovic, B., et al. (2024) · Human Genetics

Genomics and Rare DiseasesGenetics and Neurodevelopmental Disorders

Cited by 9

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly

Herbst, C., Bothe, V., Wegler, M., Axer-Schaefer, S., Audebert-Bellanger, S., Gecz, J., Cogne, B., Feldman, H. B., Horn, A. H. C., Hurst, A. C. E., et al. (2024) · Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 7