Mads Bak

2019

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Eiberg, H., Mikkelsen, A. F., Bak, M., Tommerup, N., Lund, A. M., Wenzel, A., Sabarinathan, R., Gorodkin, J., Bang-Berthelsen, C. H. & Hansen, L., 2019, In: Molecular Vision. 25, p. 1-11 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

2 Downloads (Pure)

Haploinsufficiency of ARHGAP42 is associated with hypertension

Fjorder, A. S., Rasmussen, M. B., Mehrjouy, M. M., Nazaryan-Petersen, L., Hansen, C., Bak, M., Grarup, N., Nørremølle, A., Larsen, L. A., Vestergaard, H., Hansen, T., Tommerup, N. & Bache, I., 1 Aug 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

3 Citations (Scopus)

Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome

Nazaryan-Petersen, L., Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, M., Kalscheuer, V. M., Bache, I., Hancks, D. C. & Tommerup, N., 2019, In: Human Mutation.

Research output: Contribution to journal › Journal article › Research › peer-review

3 Citations (Scopus)

2018

Aggressiveness of non-EMT breast cancer cells relies on FBXO11 activity

Bagger, S. O., Hopkinson, B. M., Pandey, D. P., Bak, M., Brydholm, A. V., Villadsen, R., Helin, K., Rønnov-Jessen, L., Petersen, O. W. & Kim, J., 2018, In: Molecular Cancer. 17, 1, p. 1-6 6 p., 171.

Research output: Contribution to journal › Comment/debate › Research › peer-review

7 Citations (Scopus)

63 Downloads (Pure)

Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

Aristidou, C., Theodosiou, A., Ketoni, A., Bak, M., Mehrjouy, M. M., Tommerup, N. & Sismani, C., 2018, In: Molecular Cytogenetics. 11, 8 p., 34.

Research output: Contribution to journal › Journal article › Research › peer-review

5 Citations (Scopus)

43 Downloads (Pure)

Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

Aristidou, C., Theodosiou, A., Bak, M., Mehrjouy, M. M., Constantinou, E., Alexandrou, A., Papaevripidou, I., Christophidou-Anastasiadou, V., Skordis, N., Kitsiou-Tzeli, S., Tommerup, N. & Sismani, C., 2018, In: PLOS ONE. 13, 10, 13 p., e0205298.

Research output: Contribution to journal › Journal article › Research › peer-review

8 Citations (Scopus)

53 Downloads (Pure)

Regulatory variants of FOXG1 in the context of its topological domain organisation

Mehrjouy, M. M., Fonseca, A. C. S., Ehmke, N., Paskulin, G., Novelli, A., Benedicenti, F., Mencarelli, M. A., Renieri, A., Busa, T., Missirian, C., Hansen, C., Abe, K. T., Speck-Martins, C. E., Vianna-Morgante, A. M., Bak, M. & Tommerup, N., 2018, In: European Journal of Human Genetics. 26, 2, p. 186–196

Research output: Contribution to journal › Journal article › Research › peer-review

8 Citations (Scopus)

Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization

Nazaryan-Petersen, L., Eisfeldt, J., Pettersson, M., Lundin, J., Nilsson, D., Wincent, J., Lieden, A., Lovmar, L., Ottosson, J., Gacic, J., Mäkitie, O., Nordgren, A., Vezzi, F., Wirta, V., Käller, M., Hjortshøj, T. D., Jespersgaard, C., Houssari, R., Pignata, L. & Bak, M. & 4 others, Tommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., Nov 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

Research output: Contribution to journal › Journal article › Research › peer-review

18 Citations (Scopus)

37 Downloads (Pure)

Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes

Halgren, C., Nielsen, N. M., Nazaryan-Petersen, L., Silahtaroglu, A., Collins, R. L., Lowther, C., Kjaergaard, S., Frisch, M., Kirchhoff, M., Brøndum-Nielsen, K., Lind-Thomsen, A., Mang, Y., El-Schich, Z., Boring, C. A., Mehrjouy, M. M., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Hansen, J. & Bryndorf, T. & 5 others, Hansen, C., Talkowski, M. E., Bak, M., Tommerup, N. & Bache, I., 2018, In: American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

15 Citations (Scopus)

Very short DNA segments can be detected and handled by the repair machinery during germline chromothriptic chromosome reassembly

Slamova, Z., Nazaryan-Petersen, L., Mehrjouy, M. M., Drabova, J., Hancarova, M., Marikova, T., Novotna, D., Vlckova, M., Vlckova, Z., Bak, M., Zemanova, Z., Tommerup, N. & Sedlacek, Z., 2018, In: Human Mutation. 39, 5, p. 709-716 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

13 Citations (Scopus)

2017

Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

Aristidou, C., Koufaris, C., Theodosiou, A., Bak, M., Mehrjouy, M. M., Behjati, F., Tanteles, G., Christophidou-Anastasiadou, V., Tommerup, N. & Sismani, C., 10 Jan 2017, In: PLOS ONE. 12, 1, 18 p., e0169935.

Research output: Contribution to journal › Journal article › Research › peer-review

16 Citations (Scopus)

89 Downloads (Pure)

Elevation of brain-enriched miRNAs in cerebrospinal fluid of patients with acute ischemic stroke

Sorensen, S. S., Nygaard, A.-B., Carlsen, A. L., Heegaard, N. H. H., Bak, M. & Christensen, T., 2017, In: Biomarker Research. 5, 10 p., 24.

Research output: Contribution to journal › Journal article › Research › peer-review

34 Citations (Scopus)

70 Downloads (Pure)

Enhancer swapping dual loss and gains of enhancers by balanced translocations and inversions between highly conserved regulatory domains

Mehrjouy, M. M., Bak, M., Lupianez, D. G., Heinrich, V., Vermeesch, J., Schinzel, A., Schonewolf-Greulich, B., Bache, I., Mundlos, S. & Tommerup, N., 2017, In: Molecular Cytogenetics. 10, S1, p. 68

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

Enrichment of megabase-sized DNA molecules for single-molecule optical mapping and next-generation sequencing

Łopacińska-Jørgensen, J. M., Pedersen, J. N., Bak, M., Mehrjouy, M. M., Sørensen, K. T., Østergaard, P. F., Bilenberg, B., Kristensen, A., Taboryski, R. J., Flyvbjerg, H., Marie, R., Tommerup, N. & Silahtaroglu, A., Dec 2017, In: Scientific Reports. 7, 1, 10 p., 17893.

Research output: Contribution to journal › Journal article › Research › peer-review

2 Citations (Scopus)

57 Downloads (Pure)

NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers

Tommerup, N., Fonseca, A. C., Mehrjouy, M., Rasmussen, M. B., Bache, I., Halgren, C., Kroisel, P., Midyan, S., Vermeesch, J., Vianna-Morgante, A. M., Abe, K. T., Moretti-Ferreira, D., Paskulin, G., Angelova, L., Rajcan-Separovic, E., Sismani, C., Sedlacek, Z., Fagerberg, C., Brondum-Nielsen, K. & Vogel, I. & 36 others, Bojesen, A., Ounap, K., Roht, L., Varilo, T., Luukkonen, T., Lespinasse, J., Beneteau, C., Kalscheuer, V. M., Ehmke, N., Daumer-Haas, C., Stefanou, E. G., Marta Czako, Kosztolanyi, G., Sheth, F., Zuffardi, O., Bonaglia, C., Novelli, A., Fannemel, M., Dias, P., Kokalj-Vokac, N., Ramos-Arroyo, M. A., Rodriguez Martinez, L., Guitart, M., Schinzel, A., Engelen, J., Silan, F., Akkari, Y., Batanian, J. R., Kim, H.-G., Aristidou, C., De Almeida, C., Lewis, S., Moreno-Igoa, M., Hovhannisyan, A., Jacky, P. & Bak, M., 29 Jun 2017, p. 70. 1 p.

Research output: Contribution to conference › Conference abstract for conference › Research › peer-review

2016

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, Z., Grønskov, K., Temple, I. K., Guldberg, P. & Tommerup, N., 14 Apr 2016, In: BMC Medical Genetics. 17, 8 p., 29.

Research output: Contribution to journal › Journal article › Research › peer-review

18 Citations (Scopus)

115 Downloads (Pure)

Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination

Nazaryan-Petersen, L., Bertelsen, B., Bak, M., Jønson, L., Tommerup, N., Hancks, D. C. & Tümer, Z., 1 Apr 2016, In: Human Mutation. 37, 4, p. 385-395 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

34 Citations (Scopus)

Identification of the BRD1 interaction network and its impact on mental disorder risk

Fryland, T., Christensen, J. H., Pallesen, J., Mattheisen, M., Palmfeldt, J., Bak, M., Grove, J., Demontis, D., Blechingberg, J., Ooi, H. S., Nyegaard, M., Hauberg, M. E., Tommerup, N., Gregersen, N., Mors, O., Corydon, T. J., Nielsen, A. L. & Borglum, A. D., 3 May 2016, In: Genome Medicine. 8, 20 p., 53.

Research output: Contribution to journal › Journal article › Research › peer-review

19 Citations (Scopus)

78 Downloads (Pure)

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., 1 Mar 2016, In: Human Genetics. 135, 3, p. 345-457 13 p.

Research output: Contribution to journal › Journal article › Research › peer-review

9 Citations (Scopus)

Re-Examination of Danish Carriers of Balanced Chromosomal Inversions

Rasmussen, M. B., Bache, I., Mehrjouy, M. M., Silahtaroglu, A., Kjaergaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Vogel, I., Hertz, J. M., Fagerberg, C., Bojesen, A., Petersen, M. B., Hansen, J., Halgren, C., Bak, M. & Tommerup, N., May 2016, In: Cancer genetics. 209, 5, p. 231-231

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

2015

Dysregulation of FOXG1 by ring chromosome 14

Alosi, D., Klitten, L. L., Bak, M., Hjalgrim, H., Møller, R. S. & Tommerup, N., 9 Apr 2015, In: Molecular Cytogenetics. 8, 24, 7 p., 24.

Research output: Contribution to journal › Journal article › Research › peer-review

5 Citations (Scopus)

Partial USH2A deletions contribute to Usher syndrome in Denmark

Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., M. Mehrjouy, M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., 1 Dec 2015, In: European Journal of Human Genetics. 23, p. 1646-1651 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

6 Citations (Scopus)

The segregation of different submicroscopic imbalances underlying the clinical variability associated with a familial karyotypically balanced translocation

Fonseca, A. C. S., Bonaldi, A., Fonseca, S. A. S., Otto, P. A., Kok, F., Bak, M., Tommerup, N. & Vianna-Morgante, A. M., 30 Dec 2015, In: Molecular Cytogenetics. 8, p. 1-10 10 p., 106.

Research output: Contribution to journal › Journal article › Research › peer-review

3 Citations (Scopus)

The small RNA content of human sperm reveals pseudogene-derived piRNAs complementary to protein-coding genes

Pantano, L., Jodar, M., Bak, M., Ballescà, J. L., Tommerup, N., Oliva, R. & Vavouri, T., 1 Jun 2015, In: R N A. 21, 6, p. 1085-95 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

51 Citations (Scopus)

2014

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-Convergence on axonal guidance

Kaalund, S. S., Venø, M. T., Bak, M., Møller, R. S., Laursen, H., Madsen, F., Broholm, H., Quistorff, B., Uldall, P., Tommerup, N., Kauppinen, S., Sabers, A., Fluiter, K., Møller, L. B., Nossent, A. Y., Silahtaroglu, A., Kjems, J., Aronica, E. & Tümer, Z., 1 Dec 2014, In: Epilepsia. 55, 12, p. 2017-2027 11 p.

Research output: Contribution to journal › Journal article › Research › peer-review

47 Citations (Scopus)

Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

Minocherhomji, S., Hansen, C., Kim, H.-G., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, H., Doh, G. D., Møllgård, K., Hertz, J. M., Nielsen, J. E., Ropers, H.-H., Tümer, Z., Tommerup, N., Kalscheuer, V. M. & Silahtaroglu, A., 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.

Research output: Contribution to journal › Journal article › Research › peer-review

10 Citations (Scopus)

Immature truncated O-glycophenotype of cancer directly induces oncogenic features

Radhakrishnan, P., Dabelsteen, S., Madsen, F. B., Francavilla, C., Kopp, K. L., Steentoft, C., Vakhrushev, S. Y., Olsen, J. V., Hansen, L., Bennett, E. P., Woetmann, A., Yin, G., Chen, L., Song, H., Bak, M., Hlady, R. A., Peters, S. L., Opavsky, R., Thode, C. & Qvortrup, K. & 4 others, Schjoldager, K.T.-B. G., Clausen, H., Hollingsworth, M. A. & Wandall, H. H., 30 Sept 2014, In: Proceedings of the National Academy of Sciences of the United States of America. 111, 39, p. e4066-e4077 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

156 Citations (Scopus)

Neurodevelopmental disorders associated with dosage imbalance of ZBTB20 correlate with the morbidity spectrum of ZBTB20 candidate target genes

Rasmussen, M. B., Nielsen, J. V., Lourenço, C. M., Melo, J. B., Halgren, C., Geraldi, C. V. L., Marques, W., Rodrigues, G. R., Thomassen, M., Bak, M., Hansen, C., Ferreira, S. I., Venâncio, M., Henriksen, K. F., Lind-Thomsen, A., Carreira, I. M., Jensen, N. A. & Tommerup, N., Sept 2014, In: Journal of Medical Genetics. 51, 9, p. 605-613 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

23 Citations (Scopus)

Saturation of the Human Genome with Chromosomal Breakpoints

Rasmussen, M. B., Schlechter, C. L., Mehrjouy, M. M., Bache, I., Lind-Thomsen, A., Silahtaroglu, A., Kjærgaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Fagerberg, C., Krogh, L. N., Fonseca, A. C. D., Morgante, A. M. V., Abe, K. T., Harding, C. H., Bak, M., Jacky, P. & Tommerup, N., 2014, In: Cytogenetic and Genome Research. 142, 3, 2 p., 2.

Research output: Contribution to journal › Conference abstract in journal › Research › peer-review

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2

Nazaryan, L., Stefanou, E. G., Hansen, C., Kosyakova, N., Bak, M., Sharkey, F. H., Mantziou, T., Papanastasiou, A. D., Velissariou, V., Liehr, T., Syrrou, M. & Tommerup, N., Mar 2014, In: European Journal of Human Genetics. 22, 3, p. 338-343 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

37 Citations (Scopus)

2013

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability

Hansen, L., Tawamie, H., Murakami, Y., Mang, Y., ur Rehman, S., Buchert, R., Schaffer, S., Muhammad, S., Bak, M., Nöthen, M. M., Bennett, E. P., Maeda, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, N., Baig, S. M. & Abou Jamra, R., 4 Apr 2013, In: American Journal of Human Genetics. 92, 4, p. 575-83 9 p.

Research output: Contribution to journal › Journal article › Research › peer-review

73 Citations (Scopus)

Next-generation sequencing: proof of concept for antenatal prediction of the fetal Kell blood group phenotype from cell-free fetal DNA in maternal plasma

Rieneck, K., Bak, M., Jønson, L., Clausen, F. B., Krog, G. R., Tommerup, N., Nielsen, L. K., Hedegaard, M. & Dziegiel, M. H., Nov 2013, In: Transfusion. 53, 11 Suppl 2, p. 2892-2898 7 p.

Research output: Contribution to journal › Journal article › Research › peer-review

39 Citations (Scopus)

2012

Aberrant brain microRNA target and miRISC gene expression in the anx/anx anorexia mouse model

Mercader, J. M., González, J. R., Lozano, J. J., Bak, M., Kauppinen, S., Sumoy, L., Dierssen, M., Fernández-Aranda, F., Visa, J., Gratacòs, M. & Estivill, X., 15 Apr 2012, In: Gene. 497, 2, p. 181-90 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

11 Citations (Scopus)

Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B

Hansen, C. H., Kjaergaard, S., Bak, M., Hansen, C., Elschich, Z., Anderson, C. M., Henriksen, K. F., Hjalgrim, H., Kirchhoff, M., Bijlsma, E., Nielsen, M., den Hollander, N., Ruivenkamp, C., Isidor, B., Le Caignec, C., Zannolli, R., Mucciolo, M., Renieri, A., Mari, F. & Anderlid, B.-M. & 4 others, Andrieux, J., Dieux, A., Tommerup, N. & Bache, I., Sept 2012, In: Clinical Genetics. 82, 3, p. 248-55 8 p.

Research output: Contribution to journal › Journal article › Research › peer-review

87 Citations (Scopus)

Genetic studies in congenital anterior midline cervical cleft

Jakobsen, L. P., Pfeiffer, P., Andersen, M., Eiberg, H., Hansen, L., Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, N., Aug 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 2021-6 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

8 Citations (Scopus)

Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity

Hansen, C. H., Bache, I., Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, N., Dec 2012, In: European Journal of Human Genetics. 20, 12, p. 1315-1319 5 p.

Research output: Contribution to journal › Journal article › Research › peer-review

20 Citations (Scopus)

Profiling microRNAs in lung tissue from pigs infected with Actinobacillus pleuropneumoniae

Podolska, A., Anthon, C., Bak, M., Tommerup, N., Skovgaard, K., Heegaard, P. M., Gorodkin, J., Cirera, S. & Fredholm, M., 6 Sept 2012, In: B M C Genomics. 13, 1, p. 459

Research output: Contribution to journal › Journal article › Research › peer-review

42 Citations (Scopus)

REST-mediated recruitment of polycomb repressor complexes in mammalian cells

Dietrich, N., Lerdrup, M., Landt, E., Agrawal-Singh, S., Bak, M., Tommerup, N., Rappsilber, J., Södersten, E. & Hansen, K., Mar 2012, In: P L o S Genetics (Online). 8, 3, p. e1002494

Research output: Contribution to journal › Journal article › Research › peer-review

105 Citations (Scopus)

Sequence and expression analysis of gaps in human chromosome 20

Minocherhomji, S., Seemann, S., Mang, Y., Elschich, Z., Bak, M., Hansen, C., Papadopoulos, N., Josefsen, K., Nielsen, H., Gorodkin, J., Tommerup, N. & Silahtaroglu, A., Aug 2012, In: Nucleic Acids Research. 40, 14, p. 6660-6672 13 p.

Research output: Contribution to journal › Journal article › Research › peer-review

4 Citations (Scopus)

46 Downloads (Pure)

Validation of genome-wide intervertebral disk calcification associations in Dachshund and further investigation of the chromosome 12 susceptibility locus

Ryt-Hansen, M. E., Scheibye-Alsing, K., Karlskov-Mortensen, P., Proschowsky, H. F., Jensen, V. F., Bak, M., Tommerup, N., Kadarmideen, H. & Fredholm, M., 2012, In: Frontiers in Genetics. 3, 225, 16 p.

Research output: Contribution to journal › Journal article › Research › peer-review

13 Citations (Scopus)

YKL-40 is differentially expressed in human embryonic stem cells and in cell progeny of the three germ layers

Brøchner, C. B., Johansen, J. S., Larsen, L. A., Bak, M., Mikkelsen, H. B., Byskov, A. G., Andersen, C. Y. & Møllgård, K., Mar 2012, In: Journal of Histochemistry and Cytochemistry. 60, 3, p. 188-204 17 p.

Research output: Contribution to journal › Journal article › Research › peer-review

30 Citations (Scopus)

2011

Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation

Nielsen, M. G., Lind-Thomsen, A., Mang, Y., Bak, M., Møller, M., Ullmann, R., Kristoffersson, U., Kalscheuer, V. M., Henriksen, K. F., Bugge, M., Tümer, Z. & Tommerup, N., Jul 2011, In: European Journal of Medical Genetics. 54, 4, p. e383-8

Research output: Contribution to journal › Journal article › Research › peer-review

6 Citations (Scopus)

Cost-effective multiplexing before capture allows screening of 25 000 clinically relevant SNPs in childhood acute lymphoblastic leukemia

Wesolowska, A., Gautier, L., Weinhold, N., Audouze, K. M. L., Brunak, S., Sicheritz-Ponten, T., Gupta, R., Dalgaard, M. D., Nielsen, B. F., Leffers, H., Borst, L., Helt, L. R., Nersting, J., Schmiegelow, K., Bak, M. & Tommerup, N., 1 Jun 2011, In: Leukemia. 25, 6, p. 1001-1006 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

17 Citations (Scopus)

Genome-wide detection of chromosomal rearrangements, indels, and mutations in circular chromosomes by short read sequencing

Skovgaard, O., Bak, M., Løbner-Olesen, A. & Tommerup, N., Aug 2011, In: Genome Research. 21, 8, p. 1388-1393 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

57 Citations (Scopus)

34 Downloads (Pure)

Jarid1b targets genes regulating development and is involved in neural differentiation

Schmitz, S. U., Albert, M., Malatesta, M., Morey Ramonell, L., Johansen, J. V., Bak, M., Tommerup, N., Abarrategui Garcia, I. & Helin, K., 16 Nov 2011, In: E M B O Journal. 30, 22, p. 4586-600 15 p.

Research output: Contribution to journal › Journal article › Research › peer-review

130 Citations (Scopus)

MicroRNA-138 regulates osteogenic differentiation of human stromal (mesenchymal) stem cells in vivo

Eskildsen, T., Taipaleenmäki, H., Stenvang, J., Abdallah, B., Ditzel, N., Nossent, A. Y., Bak, M., Kauppinen, S. & Kassem, M., 12 Apr 2011, In: Proceedings of the National Academy of Sciences of the United States of America. 108, 15, p. 6139-44 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

353 Citations (Scopus)

2010

A Functional Link between the Histone Demethylase PHF8 and the Transcription Factor ZNF711 in X-Linked Mental Retardation

Kleine-Kohlbrecher, D., Christensen, J., Vandamme, J., Abarrategui, I., Bak, M., Tommerup, N., Shi, X., Gozani, O., Rappsilber, J., Salcini, A. E. & Helin, K., 23 Apr 2010, In: Molecular Cell. 38, 2, p. 165-78 13 p.

Research output: Contribution to journal › Journal article › Research › peer-review

148 Citations (Scopus)

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., Bertalan, M., Nielsen, K., Gilbert, T., Wang, Y., Raghavan, M., Campos, P., Kamp, H. L. M., Wilson, A. S., Gledhill, A. & Tridico, S. & 32 others, Bunce, M., Lorenzen, E., Binladen, J. K. M. A., Guo, X., Zhao, J., Zhang, X., Zhang, H., Li, Z., Chen, M., Orlando, L. A. A., Kristiansen, K., Bak, M., Tommerup, N., Bendixen, C., Pierre, T. L., Grønnow, B., Meldgaard, M., Andreasen, C., Fedorova, S. A., Osipova, L. P., Higham, T. F. G., Ramsey, C. B., Hansen, T. V. O., Nielsen, F. C., Crawford, M. H., Brunak, S., Sicheritz-Pontén, T., Villems, R., Nielsen, R., Krogh, A., Wang, J. & Willerslev, E., 11 Feb 2010, In: Nature. 463, 7282, p. 757-762 6 p.

Research output: Contribution to journal › Journal article › Research › peer-review

485 Citations (Scopus)

Genome-wide analysis of CDX2 binding in intestinal epithelial cells (Caco-2)

Boyd, M., Hansen, M., Jensen, T. G. K., Perearnau, A., Olsen, A. K., Bram, L. L., Bak, M., Tommerup, N., Olsen, J. & Troelsen, J. T., 13 Aug 2010, In: Journal of Biological Chemistry. 285, 33, p. 25115-25 10 p.

Research output: Contribution to journal › Journal article › Research › peer-review

54 Citations (Scopus)

JARID2 regulates binding of the Polycomb repressive complex 2 to target genes in ES cells

Pasini, D., Cloos, P. A. C., Walfridsson, J., Olsson, L., Bukowski, J.-P., Johansen, J. V., Bak, M., Tommerup, N., Rappsilber, J. & Helin, K., 11 Mar 2010, In: Nature. 464, 7286, p. 306-10 4 p.

Research output: Contribution to journal › Journal article › Research › peer-review

401 Citations (Scopus)

Mads Bak

Research output

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