Tümer, Zeynep

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly

Møller, R. S., Kübart, S., Hoeltzenbein, M., Heye, B., Vogel, I., Hansen, C. P., Menzel, C., Ullmann, R., Tommerup, N., Ropers, H.-H., et al. (2008) · The American Journal of Human Genetics

Down syndrome and intellectual disability researchGenomic variations and chromosomal abnormalities

Cited by 163

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

Deletion of 7q34-q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Sehested, L. T., Møller, R. S., Bache, I., Andersen, N. B., Ullmann, R., Tommerup, N., & Tümer, Z. (2010) · American Journal of Medical Genetics Part A

Genomic variations and chromosomal abnormalitiesGenetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Cited by 41

Assignment of the human gene for pregnancy-associated plasma protein A (PAPPA) to 9q33.1 by fluorescence in situ hybridization to mitotic and meiotic chromosomes

Silahtaroglu, A. N., Tümer, Z., Kristensen, T., Sottrup-Jensen, L., & Tommerup, N. (2008) · Cytogenetics and Cell Genetics

Prenatal Screening and DiagnosticsGenomic variations and chromosomal abnormalities

Cited by 28

Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

Rajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, I., Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., et al. (2015) · Bipolar Disorders

Bipolar Disorder and TreatmentSchizophrenia research and treatment

Cited by 24

CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathology

Oppermann, H., Marcos-Grañeda, E., Weiss, L. A., Gurnett, C. A., Jelsig, A. M., Vineke, S. H., Isidor, B., Mercier, S., Magnussen, K., Zacher, P., et al. (2023) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 18

A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia

Gilling, M., Lauritsen, M. B., Møller, M., Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, H., Andersen, P. S., Mors, O., et al. (2008) · European Journal of Human Genetics

Autism Spectrum Disorder ResearchGenomic variations and chromosomal abnormalities

Cited by 18