Tommerup Group

Medical Genetics Program 

Scientific interests

Identification of disease genes and dissection of genomic topological associating domains (TADs) and genomic and nuclear organization by whole genome sequencing based mapping of constitutional chromosomal translocations/inversions, with a special focus on brain disorders and cognitive comorbidities. Characterization of germline chromothripsis. Integration of gene expression/function/biological pathways during normal and abnormal fetal development, Functional studies of non-coding RNA genes.

Research profile and current research programme

The ongoing projects include the establishment of risk and guidelines for prenatally diagnosed de novo balanced translocations/inversions. Defining high-risk TADs for long-range-position effects of chromosomal breakpoints, as a window into the developmental regulome, with a speciel focus on regulatory dysfunction in intellectual disability, autism, epilepsy, narcolepsy, dyslexia and congenital brain malformations. Studies of germline chromothripsis associated with complex translocations/inversions, and in cellular model systems. Linking anatomical variation to genetic variation. Development of methods for visualization of nuclear genome organization. Coordinator of International Breakpoint Mapping Consortium (2014-), involving >150 diagnostic cytogenetic laboratories from >50 countries/6 continents.


329 published/accepted peer reviewed publications,

>21,000 citations -- h-index: 67
Google Scholar 

Selected publications since 2007:

  • Seemann SE, Mirza AH, Hansen C, Bang-Berthelsen CH, Garde C, Christensen-Dalsgaard M, Torarinsson E, Yao Z, Workman CT, Pociot F, Nielsen H, Tommerup N, Ruzzo WL, Gorodkin J. . The identification and functional annotation of RNA structures conserved in vertebrates. Genome Res. 2017 Aug;27(8):1371-1383. doi: 10.1101/gr.208652.116

  • Aristidou C, Koufaris C, Theodosiou A, Bak M, Mehrjouy MM, Behjati F, Tanteles G, Christophidou-Anastasiadou V, Tommerup N, Sismani C. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. PLoS One. 2017 Jan 10;12(1):e0169935. doi: 10.1371/journal.pone.0169935.

  • Nazaryan L, Stefanou EG, Hansen C, Kosyakova N, Bak M, Sharkey FH, Papanastasiou AD, Velissariou V, Liehr T, Syrrou M, Tommerup N. The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a chromothripsis-associated CCR involving FOXP2. Eur J Hum Genet. 2014;22:338-43.

  • Rasmussen MB, Nielsen JV, Lourenço CM, Melo JB, Halgren C, Geraldi CVL,, Marques Jr W, Rodrigues GR, Thomassen M, Bak M, Hansen C, Ferreira SI, Venâncio M, Henriksen KF, Lind-Thomsen A, Carreira IM, Jensen NA, Tommerup N. Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes. J Med Genet. 2014;51:605-13.

  • Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett E, Maeda Y, Aigner M, Reis A, Kinoshita T, Kinoshita T, Tommerup N, Baig SM, Jamra RA. Hypomorphic mutations in PGAP2, encoding a GPI-anchor remodeling protein, cause autosomal recessive intellectual disability. Am J Hum Genet. 2013;92:575-83.

  • Halgren C, Kjaergaard S, Bak M, Elschic Z, Anderson C, Kirchhoff M, Hjalgrim H, Bijlsma E, Lecaignec C,  Temple K, Mari F, Anderlid BM, Dieux A, Tommerup N, Bache I. Corpus Callosum Abnormalities, Intellectual Disability, Speech Impairment, and Autism in Patients with Haploinsufficiency of ARID1B. Clin Genet. 2012;82:248-255.

  • Pasini D, Cloos PAC, Walfridsson J, Olsson L, Bukowski J-P, Bak M, Tommerup N, Rappsilber J, Helin K. The Jumonji protein JARID2 regulates binding of the Polycomb Repressive Complex 2 to target genes in ES cells. Nature. 2010;464:306-10.

  • Rasmussen M, Li Y, Lindgreen S, Pedersen JS, Albrechtsen A, Moltke I, Metspalu M, Metspalu E, Kivisild T, Gupta R, Bertalan M, Nielsen K, Gilbert MTP, Wang Y, Raghavan M, Campos P, Kamp HM, Wilson AS, Gledhill A, Tridico S, Bunce M, Lorenzen ED, Binladen J, Guo X, Zhao J, Zhang X, Zhang H, Li X, Chen M, Orlando L, Kristiansen K, Bak M, Tommerup N, Bendixen C, Pierre TL, Grønnow B, Meldgaard M, Andreasen C, Fedorova SA, Osipova LP, Higham TF, Ramsey CB, Hansen TV, Nielsen FC, Crawford MH, Brunak S, Sicheritz-Pontén T, Villems R, Nielsen R, Krogh A, Wang J, Willerslev E. Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature. 2010;463:757-62.

  • Bak M, Silahtaroglu A, Møller M, Christensen M, Rath MF, Skryabin B, Tommerup N, Kauppinen S. MicroRNA expression in the adult mouse central nervous system. RNA. 2008;14:432-44.

  • Lage K, Karlberg EO, Størling ZM, Ólason PI, Pedersen AG, Rigina O, Tümer Z, Pociot F, Tommerup N, Moreau Y, Brunak S. A human phenome-interactome network of protein complexes implicated in genetic disorders. Nat Biotechnol 2007;25:309-16.

  • Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, Tommerup N, Eichler EE, Bellanne-Chantelot C. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet. 2007;85:1057-69.

  • Silahtaroglu AN, Nolting D, Dyrskjøt L, Berezikov E, Møller M, Tommerup N, Kauppinen S. Detection of microRNAs in frozen tissue sections by fluorescence in situ hybridization using locked nucleic acid probes and tyramide signal amplification. Nat Protoc. 2007;2:2520-8.