Tommerup, Niels

Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP

Petrif, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., et al. (1995) · Nature

Congenital limb and hand anomaliesGenomics and Rare Diseases

Cited by 1,217

Ancient human genome sequence of an extinct Palaeo-Eskimo

Rasmussen, M., Li, Y., Lindgreen, S., Pedersen, J. S., Albrechtsen, A., Moltke, I., Metspalu, M., Metspalu, E., Kivisild, T., Gupta, R., et al. (2010) · Nature

Forensic and Genetic ResearchPleistocene-Era Hominins and Archaeology

Cited by 849

MicroRNA expression in the adult mouse central nervous system

Bak, M., Silahtaroglu, A., Møller, M., Christensen, M., Rath, M. F., Skryabin, B., Tommerup, N., & Kauppinen, S. (2008) · RNA

MicroRNA in disease regulationPlant Molecular Biology Research

Cited by 463

The phenotypic spectrum of SCN8A encephalopathy

Larsen, J., Carvill, G. L., Gardella, E., Kluger, G., Schmiedel, G., Barisic, N., Depienne, C., Brilstra, E., Mang, Y., Nielsen, J. E. K., et al. (2015) · Neurology

Epilepsy research and treatmentIon channel regulation and function

Cited by 285

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

Berryer, M. H., Hamdan, F. F., Klitten, L. L., Møller, R. S., Carmant, L., Schwartzentruber, J., Patry, L., Dobrzeniecka, S., Rochefort, D., Neugnot-Cerioli, M., et al. (2013) · Human Mutation

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 266

Molecular Characterization of a Novel Human Hybrid-type Receptor That Binds the α2-Macroglobulin Receptor-associated Protein

Jacobsen, L., Madsen, P., Moestrup, S. K., Lund, A. H., Tommerup, N., Nykjær, A., Sottrup-Jensen, L., Gliemann, J., & Petersen, C. M. (1996) · Journal of Biological Chemistry

Cellular transport and secretionCholesterol and Lipid Metabolism

Cited by 253

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

Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome

Borg, I., Freude, K., Kübart, S., Hoffmann, K., Menzel, C., Laccone, F., Firth, H., Ferguson-Smith, M. A., Tommerup, N., Ropers, H.-H., et al. (2005) · European Journal of Human Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 95

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

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

Phenotypic subregions within the split-hand/foot malformation 1 locus

Rasmussen, M. B., Kreiborg, S., Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Jørgensen, E., Tommerup, N., Tranebjærg, L., & Rendtorff, N. D. (2016) · Human Genetics

Congenital limb and hand anomaliesGenomic variations and chromosomal abnormalities

Cited by 18