Niels Tommerup

Research output

Research output per year 1985 1997 1998 1999 2001 2004 2005 2006 2007 2008 2009 2010 2011 2012 2013 2014 2015 2016 2017 2018 2024

• 14106 Citations
• 255 Journal article
• 6 Conference abstract in journal
• 5 Letter
• 2 Book chapter
• 6 More
  • 2 Review
  • 1 Book
  • 1 Report
  • 1 Conference abstract in proceedings
  • 1 Working paper

Research output per year

Research output per year

Search results

• 2024

  Clonal hematopoiesis and COVID-19 hospitalization in Danish adults

  Burgos Sequeros, C., Tulstrup, M., Bliddal, S., Sørensen, K. M., Nissen, I., Rezahosseini, O., Brooks, P. T., Feenstra, B., Gang, A. O., Geller, F., Hald, A., Harboe, Z. B., Helleberg, M., Jespersen, J. S., Lebech, A. M., Lindegaard, B., Mogensen, T. H., Møller, M. E. E., Nielsen, C. H., Niemann, C. U. & 13 others, Podlekareva, D., Sejdic, A., Sørensen, E., Teglgaard, R. S., Tommerup, N., Weis, N., Brunak, S., Pedersen, O. B. V., Banasik, K., Feldt-Rasmussen, U., Nielsen, S. D., Ostrowski, S. R. & Grønbæk, K., 2024, In: HemaSphere. 8, 3, 5 p., e58.

  Research output: Contribution to journal › Letter › Research › peer-review

  Open Access

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  18 Downloads (Pure)

• Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

  Bendas Feres Lima, I., Fátima Marques de Moraes, L. D., Roberto da Fonseca, C., Clinton Llerena Junior, J., Mehrjouy, M., Tommerup, N. & Ferreira Bastos, E., 2024, In: Molecular Cytogenetics. 17, 1, 8 p., 15.

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

  Open Access

  File
  1 Downloads (Pure)
• 2023

  PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

  Cossu, A., Santos, J. L., Galati, G., Nikanorova, M., Costa, P., Mang, Y., Silahtaroglu, A., Rubboli, G., Tommerup, N., Dalla Bernardina, B., Møller, R. S., Cantalupo, G. & Gardella, E., 2023, In: Neurological Sciences. 44, 6, p. 2173-2176 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  2 Citations (Scopus)
• 2022

  Does rapid sequence divergence preclude RNA structure conservation in vertebrates?

  Seemann, S. E., Mirza, A. H., Bang-Berthelsen, C. H., Garde, C., Christensen-Dalsgaard, M., Workman, C. T., Pociot, F., Tommerup, N., Gorodkin, J. & Ruzzo, W. L., 2022, In: Nucleic Acids Research. 50, 5, p. 2452-2463 12 p.

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

  Open Access

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  3 Citations (Scopus)

  38 Downloads (Pure)

• Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

  Rendtorff, N. D., Karstensen, H. G., Lodahl, M., Tolmie, J., McWilliam, C., Bak, M., Tommerup, N., Nazaryan-Petersen, L., Kunst, H., Wong, M., Joss, S., Carelli, V. & Tranebjærg, L., 2022, In: Scientific Reports. 12, 14959.

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

  Open Access

  File
  2 Citations (Scopus)

  18 Downloads (Pure)

• Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

  Schöpflin, R., Melo, U. S., Moeinzadeh, H., Heller, D., Laupert, V., Hertzberg, J., Holtgrewe, M., Alavi, N., Klever, M. K., Jungnitsch, J., Comak, E., Türkmen, S., Horn, D., Duffourd, Y., Faivre, L., Callier, P., Sanlaville, D., Zuffardi, O., Tenconi, R., Kurtas, N. E. & 11 others, Giglio, S., Prager, B., Latos-Bielenska, A., Vogel, I., Bugge, M., Tommerup, N., Spielmann, M., Vitobello, A., Kalscheuer, V. M., Vingron, M. & Mundlos, S., 2022, In: Nature Communications. 13, 6470.

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

  Open Access

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  16 Citations (Scopus)

  11 Downloads (Pure)

• Rare pathogenic variants in genes of glutamatergic neurotransmission pathway segregate with schizophrenia in Pakistani families

  Fatima, A., Abdullah, U., Farooq, M., Ali, Z., Mang, Y., Mehrjouy, M. M., Tommerup, N. & Baig, S. M., 2022, In: European Journal of Human Genetics. 30, SUPPL 1, p. 276-276 1 p., P09.052.A.

  Research output: Contribution to journal › Conference abstract in journal › Research

  Open Access
• 2021

  Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients

  Bliddal, S., Banasik, K., Pedersen, O. B., Nissen, J., Cantwell, L., Schwinn, M., Tulstrup, M., Westergaard, D., Ullum, H., Brunak, S., Tommerup, N., Feenstra, B., Geller, F., Ostrowski, S. R., Grønbæk, K., Nielsen, C. H., Nielsen, S. D. & Feldt-Rasmussen, U., 2021, In: Scientific Reports. 11, 13153.

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

  Open Access

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  135 Citations (Scopus)

  55 Downloads (Pure)

• A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review

  Faryal, S., Farooq, M., Abdullah, U., Ali, Z., Saadi, S. M., Ullah, F., Khan, K., Sarwar, Y., Sher, M., Chopra, A. A., Tommerup, N. & Baig, S. M., 2021, In: European Journal of Medical Genetics. 64, 7, 104226.

  Research output: Contribution to journal › Journal article › Research › peer-review
  5 Citations (Scopus)

• Article rare pathogenic variants in genes implicated in glutamatergic neurotransmission pathway segregate with schizophrenia in pakistani families

  Fatima, A., Abdullah, U., Farooq, M., Mang, Y., Mehrjouy, M. M., Asif, M., Ali, Z., Tommerup, N. & Baig, S. M., 2021, In: Genes. 12, 12, 1899.

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

  Open Access

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  3 Citations (Scopus)

  14 Downloads (Pure)
• 2020

  A shared somatic translocation involving CUX1 in monozygotic twins as an early driver of AMKL in Down syndrome

  Bache, I., Wadt, K., Mehrjouy, M. M., Rossing, M., Østrup, O., Byrjalsen, A., Tommerup, N., Metzner, M., Vyas, P., Schmiegelow, K., Lausen, B. & Andersen, M. K., 2020, In: Blood Cancer Journal. 10, 3, 4 p., 27.

  Research output: Contribution to journal › Letter › Research › peer-review

  Open Access

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  3 Citations (Scopus)

  59 Downloads (Pure)

• Chromothripsis and DNA Repair Disorders

  Nazaryan-Petersen, L., Bjerregaard, V. A., Nielsen, F. C., Tommerup, N. & Tuemer, Z., 2020, In: Journal of Clinical Medicine. 9, 3, 9 p., 613.

  Research output: Contribution to journal › Review › Research › peer-review

  Open Access

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  22 Citations (Scopus)

  25 Downloads (Pure)

• Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high frequency of cancer prone syndromes

  Byrjalsen, A., Hansen, T. V. O., Stoltze, U. K., Mehrjouy, M. M., Barnkob, N. M., Hjalgrim, L. L., Mathiasen, R., Lautrup, C. K., Gregersen, P. A., Hasle, H., Wehner, P. S., Tuckuviene, R., Sackett, P. W., Laspiur, A. O., Rossing, M., Marvig, R. L., Tommerup, N., Olsen, T. E., Scheie, D., Gupta, R. & 3 others, Gerdes, A. M., Schmiegelow, K. & Wadt, K., 2020, In: PLOS Genetics. 16, 12, e1009231.

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

  Open Access

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  76 Citations (Scopus)

  32 Downloads (Pure)

• Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

  Bech, S., Løkkegaard, A., Nielsen, T. T., Nørremølle, A., Grønborg, S., Hasholt, L., Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, N., Mang, Y., Bak, M., Nielsen, J. E., Eiberg, H. & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347

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

  Open Access

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  2 Citations (Scopus)

  13 Downloads (Pure)

• RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

  Farooq, M., Lindbæk, L., Krogh, N., Doganli, C., Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Møllgård, K., Nielsen, H., Baig, S. M. & 3 others, Tommerup, N., Christensen, S. T. & Larsen, L. A., 2020, In: Nature Communications. 11, 16 p., 5816.

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

  Open Access

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  35 Citations (Scopus)

  68 Downloads (Pure)
• 2019

  A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

  Sher, M., Farooq, M., Abdullah, U., Ali, Z., Faryal, S., Zakaria, M., Ullah, F., Bukhari, H., Møller, R. S., Tommerup, N. & Baig, S. M., 2019, In: International Journal of Neuroscience. 129, 9, p. 890-895 6 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  2 Citations (Scopus)

• 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

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  4 Citations (Scopus)

  41 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., 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.

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

  Open Access
  12 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. 40, 8, p. 1057-1062

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

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  6 Citations (Scopus)

  35 Downloads (Pure)

• Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome

  Midro, A. T., Tommerup, N., Borys, J., Panasiuk, B., Kosztyła-Hojna, B., Zalewska, R., Konstantynowicz, J., Łebkowska, U., Cooper, L., Scherer, S. E., Mehrjouy, M. M., Liu, Q., Skowroński, R. & Stankiewicz, P., 2019, In: Clinical Genetics. 95, 4, p. 534-536 3 p.

  Research output: Contribution to journal › Letter › Research › peer-review
  5 Citations (Scopus)

• Small supernumerary marker chromosomes: A legacy of trisomy rescue?

  Kurtas, N. E., Xumerle, L., Leonardelli, L., Delledonne, M., Brusco, A., Chrzanowska, K., Schinzel, A., Larizza, D., Guerneri, S., Natacci, F., Bonaglia, M. C., Reho, P., Manolakos, E., Mattina, T., Soli, F., Provenzano, A., Al-Rikabi, A. H., Errichiello, E., Nazaryan-Petersen, L., Giglio, S. & 3 others, Tommerup, N., Liehr, T. & Zuffardi, O., 2019, In: Human Mutation. 401, 2, p. 193-200

  Research output: Contribution to journal › Journal article › Research › peer-review
  30 Citations (Scopus)
• 2018

  Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes

  Luukkonen, T. M., Mehrjouy, M. M., Pöyhönen, M., Anttonen, A-K., Lahermo, P., Ellonen, P., Paulin, L., Tommerup, N., Palotie, A. & Varilo, T., 2018, In: Molecular genetics & genomic medicine. 6, 1, p. 56-68

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

  Open Access

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  5 Citations (Scopus)

  181 Downloads (Pure)

• Challenges for the sustainability of university-run biobanks

  Kongsholm, N. C. H., Christensen, S. T., Herrmann, J. R., Larsen, L. A., Minssen, T., Pedersen, L. B., Rajam, N., Tommerup, N., Tupasela, A. M. & Schovsbo, J. H., 2018, In: Biopreservation and Biobanking. 16, 4, p. 312-321 10 p.

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

  Open Access

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  9 Citations (Scopus)

  273 Downloads (Pure)

• Congenital olfactory impairment is linked to cortical changes in prefrontal and limbic brain regions

  Karstensen, H. G., Vestergaard, M., Baaré, W. F. C., Skimminge, A., Djurhuus, B., Ellefsen, B., Brüggemann, N., Klausen, C., Leffers, A. M., Tommerup, N. & Siebner, H. R., Dec 2018, In: Brain Imaging and Behavior. 12, 6, p. 1569-1582 14 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  26 Citations (Scopus)

• 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

  Open Access

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  13 Citations (Scopus)

  105 Downloads (Pure)

• De novo unbalanced translocations have a complex history/aetiology

  Bonaglia, M. C., Kurtas, N. E., Errichiello, E., Bertuzzo, S., Beri, S., Mehrjouy, M. M., Provenzano, A., Vergani, D., Pecile, V., Novara, F., Reho, P., Di Giacomo, M. C., Discepoli, G., Giorda, R., Aldred, M. A., Santos-Rebouças, C. B., Goncalves, A. P., Abuelo, D. N., Giglio, S., Ricca, I. & 7 others, Franchi, F., Patsalis, P., Sismani, C., Morí, M. A., Nevado, J., Tommerup, N. & Zuffardi, O., 2018, In: Human Genetics. 137, 10, p. 817-829 13 p.

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

  Open Access

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  20 Citations (Scopus)

  130 Downloads (Pure)

• Gastroschise og Omphalocele i Grønland 1989-2015

  Bugge, M., Drachmann, G., Kern, P., Budtz-Jørgensen, E., Eiberg, H. R. L., Olsen, B., Tommerup, N. & Nielsen, I-M., Jan 2018, In: Nakorsanut. 43, 1, p. 20-22 3 p.

  Research output: Contribution to journal › Journal article › Research

  Open Access

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  74 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

  Open Access

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  14 Citations (Scopus)

  149 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

  Open Access
  17 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., 2018, In: PLOS Genetics. 14, 11, 25 p., e1007780.

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

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  29 Citations (Scopus)

  138 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
  29 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
  19 Citations (Scopus)
• 2017

  Abdominal Wall Defects in Greenland 1989–2015

  Bugge, M., Drachmann, G., Kern, P., Budtz–Jørgensen, E., Eiberg, H., Olsen, B., Tommerup, N. & Nielsen, I. M., 2017, In: Birth Defects Research. Part A: Clinical and Molecular Teratology. 109, 11, p. 836-842 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  15 Citations (Scopus)

• 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

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  27 Citations (Scopus)

  238 Downloads (Pure)

• A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family

  Abdullah, U., Farooq, M., Mang, Y., Marriam Bakhtiar, S., Fatima, A., Hansen, L., Kjaer, K. W., Larsen, L. A., Faryal, S., Tommerup, N. & Mahmood Baig, S., Dec 2017, In: European Journal of Medical Genetics. 60, 12, p. 627-630 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  10 Citations (Scopus)

• 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

  Open Access

• 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

  Open Access

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  4 Citations (Scopus)

  174 Downloads (Pure)

• Genome-Wide Supported Risk Variants in MIR137, CACNA1C, CSMD1, DRD2, and GRM3 Contribute to Schizophrenia Susceptibility in Pakistani Population

  Fatima, A., Farooq, M., Abdullah, U., Tariq, M., Mustafa, T., Iqbal, M., Tommerup, N. & Mahmood Baig, S., Sep 2017, In: Psychiatry Investigation. 14, 5, p. 687-692 6 p.

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

  Open Access

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  11 Citations (Scopus)

  148 Downloads (Pure)

• Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis

  Abdullah, U., Farooq, M., Fatima, A., Tauseef, W., Sarwar, Y., Nuri, M., Tommerup, N. & Baig, S. M., Oct 2017, In: Nephrology. 22, 10, p. 818-820 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  6 Citations (Scopus)

• Mutations in GABRB3: From febrile seizures to epileptic encephalopathies

  Møller, R. S., Wuttke, T. V., Helbig, I., Marini, C., Johannesen, K. M., Brilstra, E. H., Vaher, U., Borggraefe, I., Talvik, I., Talvik, T., Kluger, G., Francois, L. L., Lesca, G., de Bellescize, J., Blichfeldt, S., Chatron, N., Holert, N., Jacobs, J., Swinkels, M., Betzler, C. & 22 others, Syrbe, S., Nikanorova, M., Myers, C. T., Larsen, L. H. G., Vejzovic, S., Pendziwiat, M., von Spiczak, S., Hopkins, S., Dubbs, H., Mang, Y., Mukhin, K., Holthausen, H., van Gassen, K. L., Dahl, H. A., Tommerup, N., Mefford, H. C., Rubboli, G., Guerrini, R., Lemke, J. R., Lerche, H., Muhle, H. & Maljevic, S., 31 Jan 2017, In: Neurology. 88, 5, p. 483-492 10 p.

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

  Open Access
  88 Citations (Scopus)

• 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., 2017, In: Molecular Cytogenetics. 10, S1, p. 70 1 p., 7.P1.

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• The identification and functional annotation of RNA structures conserved in vertebrates

  Seemann, E. S., Mirza, A. H., Hansen, C., Bang-Berthelsen, C. H., Garde, C., Christensen-Dalsgaard, M., Torarinsson, E., Yao, Z., Workman, C. T., Pociot, F., Nielsen, H., Tommerup, N., Ruzzo, W. L. & Gorodkin, J., 2017, In: Genome Research. 27, p. 1371-1383 14 p.

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  62 Citations (Scopus)

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• 2016

  A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

  Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, K. W., Baig, S. M., Larsen, L. A. & Tommerup, N., Mar 2016, In: Journal of Human Genetics. 61, 3, p. 271-273 3 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  15 Citations (Scopus)

• Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation

  Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmueller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nuernberg, P., Mang, Y., Moller, L. B., Gellert, P., Heron, S. E., Dibbens, L. M. & 8 others, Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, N., Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., Mar 2016, In: Annals of Neurology. 79, 3, p. 428-436

  Research output: Contribution to journal › Journal article › Research › peer-review
  160 Citations (Scopus)

• Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

  Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., Gellert, P. & 12 others, Nikanorova, M., Olofsson, K., Jepsen, B., Marjanovic, D., Al-Zehhawi, L. I. K., Peñalva, S. J., Krag-Olsen, B., Brusgaard, K., Hjalgrim, H., Rubboli, G., Pal, D. K. & Dahl, H. A., Sep 2016, In: Molecular Syndromology. 7, 4, p. 210-219 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  100 Citations (Scopus)

• 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.

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• 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., Apr 2016, In: Human Mutation. 37, 4, p. 385-395 11 p.

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  51 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.

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• Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

  Rudolf, G., Lesca, G., Mehrjouy, M. M., Labalme, A., Salmi, M., Bache, I., Bruneau, N., Pendziwiat, M., Fluss, J., de Bellescize, J., Scholly, J., Moller, R. S., Craiu, D., Tommerup, N., Valenti-Hirsch, M. P., Schluth-Bolard, C., Sloan-Béna, F., Helbig, K. L., Weckhuysen, S., Edery, P. & 21 others, Coulbaut, S., Abbas, M., Scheffer, I. E., Tang, S., Myers, C. T., Stamberger, H., Carvill, G. L., Shinde, D. N., Mefford, H. C., Neagu, E., Huether, R., Lu, H-M., Dica, A., Cohen, J. S., Iliescu, C., Pomeran, C., Rubenstein, J., Helbig, I., Sanlaville, D., Hirsch, E. & Szepetowski, P., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1761-1770 10 p.

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  34 Citations (Scopus)

• Monozygotic twins discordant for narcolepsy type 1 and multiple sclerosis

  Jennum, P. J., Kornum, B. R., Issa, N. M., Gammeltoft, S., Tommerup, N., Morling, N., Tümer, Z. & Knudsen, S., Aug 2016, In: Neurology: Neuroimmunology & Neuroinflammation. 3, 4, 2 p., e249.

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