Lusine Nazaryan

Publikation

Publikationer pr. år 2013 2015 2016 2018 2019 2019

• 12 Tidsskriftartikel
• 1 Ph.d.-afhandling
• 1 Letter

Publikationer pr. år

Publikationer pr. år

Søgeresultater

• 2019

  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, I: European Journal of Human Genetics. 27, 8, s. 1296-1303 8 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Haploinsufficiency 100%
  • Hypertension 50%
  • Obesity 40%
  • Genome-Wide Association Study 40%
  • Blood Pressure 37%
  3 Citationer (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, I: Human Mutation.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Mobius Syndrome 100%
  • plexin 95%
  • Semaphorins 87%
  • Chromothripsis 42%
  • Abducens Nerve 17%
  3 Citationer (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 flereTommerup, N., Liehr, T. & Zuffardi, O., 1 feb. 2019, I: Human Mutation. 401, 2, s. 193-200

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Chromosomes, Human, 1-3 100%
  • Trisomy 69%
  • Genetic Markers 59%
  • Chromosomes 33%
  • Mothers 26%
  12 Citationer (Scopus)
• 2018

  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 flereTommerup, N., Lundberg, E. S., Tümer, Z. & Lindstrand, A., nov. 2018, I: PLOS Genetics. 14, 11, 25 s., e1007780.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Whole Genome Sequencing 100%
  • Chromothripsis 98%
  • genome 80%
  • microarray technology 62%
  • chromosome 59%
  18 Citationer (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 flereHansen, C., Talkowski, M. E., Bak, M., Tommerup, N. & Bache, I., 2018, I: American Journal of Human Genetics. 102, 6, s. 1090-1103 14 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Morbidity 100%
  • Developmental Genes 57%
  • First Pregnancy Trimester 43%
  • Routine Diagnostic Tests 39%
  • Research Design 33%
  15 Citationer (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, I: Human Mutation. 39, 5, s. 709-716 8 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Chromothripsis 100%
  • Chromosomes 92%
  • DNA 64%
  • Microarray Analysis 29%
  • Nucleotides 23%
  13 Citationer (Scopus)
• 2016

  A germline chromothripsis event stably segregating in 11 individuals through three generations

  Bertelsen, B., Nazaryan-Petersen, L., Sun, W., Mehrjouy, M. M., Xie, G., Chen, W., Hjermind, L. E., Taschner, P. E. M. & Tümer, Z., 1 maj 2016, I: Genetics In Medicine. 18, 5, s. 494-500 7 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Chromothripsis 100%
  • Germ Cells 57%
  • Ataxia Telangiectasia 10%
  • Gene Dosage 9%
  • Cytogenetic Analysis 9%
  35 Citationer (Scopus)

• 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, I: Human Mutation. 37, 4, s. 385-395 11 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Chromothripsis 100%
  • Homologous Recombination 65%
  • Alu Elements 34%
  • Retroelements 30%
  • Endonucleases 27%
  34 Citationer (Scopus)
• 2015

  A mosaic small supernumerary marker chromosome 17 in a patient with Tourette syndrome, ADHD and intellectual disability: A case story and review of the literature

  Cornelius, N., Bertelsen, B., Melchior, L., Nazaryan, L., Debes, N. M., Groth, C., Skov, L. & Tümer, Z., 30 jul. 2015, I: Psychiatry Research. 228, 1, s. 179-81 3 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  3 Citationer (Scopus)

• Association study between CDH2 and Gilles de la Tourette syndrome in a Danish cohort

  Nazaryan, L., Bertelsen, B., Padmanabhuni, S. S., Debes, N. M., LuCamp, L., Have, C. T. & Tümer, Z., 30 aug. 2015, I: Psychiatry Research. 228, 3, s. 974-5 2 s.

  Publikation: Bidrag til tidsskrift › Letter › peer review

  2 Citationer (Scopus)

• A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD

  Bertelsen, B., Melchior, L., Jensen, L. R., Groth, C., Nazaryan, L., Debes, N. M., Skov, L., Xie, G., Sun, W., Brøndum-Nielsen, K., Kuss, A. W., Chen, W. & Tümer, Z., 28 feb. 2015, I: Psychiatry Research. 225, 3, s. 268-75 8 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • olfactomedin 100%
  • Tourette Syndrome 73%
  • Genes 12%
  • Tics 10%
  • Haploinsufficiency 10%
  10 Citationer (Scopus)

• Deletion of 11q12.3-11q13.1 in a patient with intellectual disability and childhood facial features resembling Cornelia de Lange syndrome

  Boyle, M. I., Jespersgaard, C., Nazaryan, L., Ravn, K., Brøndum-Nielsen, K., Bisgaard, A-M. & Tümer, Z., 1 nov. 2015, I: Gene. 572, 1, s. 130-4 5 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • De Lange Syndrome 100%
  • Intellectual Disability 59%
  • cohesins 29%
  • Genetic Databases 27%
  • Chromosome Deletion 27%
  6 Citationer (Scopus)
• 2014

  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, I: European Journal of Human Genetics. 22, 3, s. 338-343 6 s.

  Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

  • Chromothripsis 100%
  • Cytogenetics 57%
  • Speech Disorders 52%
  • Chromosome Structures 27%
  • Chromosomes, Human, Pair 2 25%
  37 Citationer (Scopus)
• 2013

  Mechanisms and consequences of chromosomal rearrangements characterized by next generation sequencing

  Nazaryan, L., 16 sep. 2013

  Publikation: Bog/antologi/afhandling/rapport › Ph.d.-afhandling