Zeynep Tümer
Clinical Professor
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Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation
Addis, L., Ahn, J. W., Dobson, R., Dixit, A., Ogilvie, C. M., Pinto, D., Vaags, A. K., Coon, H., Chaste, P., Wilson, S., Parr, J. R., Andrieux, J., Lenne, B., Tumer, Z., Leuzzi, V., Aubell, K., Koillinen, H., Curran, S., Marshall, C. R., Scherer, S. W. & 3 others, , Sep 2015, In: Human Mutation. 36, 9, p. 842-50 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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An excess of chromosome 1 breakpoints in male infertility
Bache, I., Assche, E. V., Cingöz, S., Bugge, M., Tümer, Z. A., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G. & 39 others, , 2004, In: European Journal of Human Genetics. Vol. 12, p. 993-1000Research output: Contribution to journal › Journal article › Research › peer-review
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Delineation of a 2.2 Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
Baekvad-Hansen, M., Tümer, Asuman Zeynep, Delicado, A., Erdogan, F., Tommerup, Niels & Larsen, Lars Allan, 2006, In: American Journal of Medical Genetics. Part A. 140A, 5, p. 427-433 6 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57
Bak, M., Boonen, S. E., Dahl, C., Hahnemann, J. M. D., Mackay, D. J. D. G., Tümer, Asuman Zeynep, Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, Niels, 14 Apr 2016, In: BMC Medical Genetics. 17, 8 p., 29.Research output: Contribution to journal › Journal article › Research › peer-review
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Deciphering the premature mortality in PIGA-CDG – An untold story
Bayat, A., Kløvgaard, M., Johannesen, K. M., Stefan Barakat, T., Kievit, A., Montomoli, M., Parrini, E., Pietrafusa, N., Schelhaas, J., van Slegtenhorst, M., Miya, K., Guerrini, R., Tranebjærg, Lisbeth, Tümer, Asuman Zeynep, Rubboli, Guido & Møller, R. S., 2021, In: Epilepsy Research. 170, 106530.Research output: Contribution to journal › Journal article › Research › peer-review
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De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature
Becker, K., Di Donato, N., Holder-Espinasse, M., Andrieux, J., Cuisset, J., Vallée, L., Plessis, G., Jean, N., Delobel, B., Thuresson, A., Annerén, G., Ravn, K., Tümer, Asuman Zeynep, Tinschert, S., Schrock, E., Jønch, A. E. & Hackmann, K., Aug 2012, In: European Journal of Medical Genetics. 55, 8-9, p. 490-497 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome
Belloso, J. M., Bache, Iben, Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., Ropers, H. H., Tommerup, Niels & Tümer, Asuman Zeynep, 2007, In: European Journal of Human Genetics. 15, 6, p. 711-713 2 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Three new loci for determining x chromosome inactivation patterns
Bertelsen, B., Tümer, Asuman Zeynep & Ravn, K., Nov 2011, In: Journal of Molecular Diagnostics. 13, 5, p. 537-40 4 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome
Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Glenthøj, Birte Yding, Rizzo, R., Debes, Nanette M Monique Mol, Skov, L., Brøndum-Nielsen, K., Paschou, P., Silahtaroglu, Asli & Tümer, Asuman Zeynep, Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1283-1289 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Association Study of CHRNA7 Promoter Variants with Sensory and Sensorimotor Gating in Schizophrenia Patients and Healthy Controls: A Danish Case-Control Study
Bertelsen, B., Oranje, B., Melchior, L., Fagerlund, Birgitte, Werge, Thomas, Mikkelsen, Jens D., Tümer, Asuman Zeynep & Glenthøj, Birte Yding, Dec 2015, In: NeuroMolecular Medicine. 17, 4, p. 423-30 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
ID: 7071
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Dysfunction of the heteromeric KV7.3/KV7.5 potassium channel is associated with autism spectrum disorders
Research output: Contribution to journal › Journal article › Research › peer-review
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1860
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
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1136
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Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)( p11.2q21.2) mutation among northern Europeans
Research output: Contribution to journal › Journal article › Research › peer-review
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