Iben Bache

Research output

Research output per year 2004 2006 2007 2010 2011 2016 2017 2019 2023

• 1147 Citations
• 35 Journal article
• 4 Conference abstract in journal
• 1 Ph.D. thesis
• 1 Comment/debate
• 1 More
  • 1 Letter

Research output per year

Research output per year

Search results

• 2023

  Cell-free fetal DNA for genetic evaluation in Copenhagen Pregnancy Loss Study (COPL): a prospective cohort study

  Schlaikjær Hartwig, T., Ambye, L., Gruhn, J., Petersen, J. F., Wrønding, T., Amato, L., Chi-Ho Chan, A., Ji, B., Bro-Jørgensen, M. H., Werge, L., Petersen, M. M. B. S., Brinkmann, C., Petersen, J. B., Dunø, M., Bache, I., Herrgård, M. J., Jørgensen, F. S., Hoffmann, E. R., Nielsen, H. S., Hartwig, T. S. & 24 others, Freiesleben, N. L. C., Bliddal, S., Søndergaard, T. J., Ostrowski, S. R., Sørensen, E., Larsen, M. A. H., Herregård, M. J., Chan, A. C. H., Kolte, A. M., Westergaard, D., þorsteinsdóttir, U., Stefánsson, K., Jónsson, H., Magnússon, Ó., Steinthorsdottir, V., Schmidt, L., Kristiansen, K., Kamstrup, P. R., Nyegaard, M., Krog, M. C., Løkkegaard, E. C. L., Bredkjær, H. E., Wilken-Jensen, C. & COPL consortium, 2023, In: The Lancet. 401, 10378, p. 762-771 10 p.

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

• Cell-Free Fetal DNA for Genetic Evaluation in Copenhagen Pregnancy Loss Study (COPL): A Prospective Cohort Study

  Hartwig, T. S., Ambye, L., Gruhn, J. R., Petersen, J. F., Wrønding, T., Amato, L., Chan, A. C-H., Ji, B., Bro-Jørgensen, M. H., Werge, L., Petersen, M. M. B. S., Brinkmann, C., Petersen, J. B., Dunø, M., Bache, I., Herrgård, M. J., Jørgensen, F. S., Hoffmann, E. R. & Nielsen, H. S., 2023, In: Obstetrical and Gynecological Survey. 78, 6, p. 345-346 2 p.

  Research output: Contribution to journal › Comment/debate › Research › peer-review
• 2021

  Increased prenatal detection of 22q11.2 deletion and 22q11.2 duplication after introduction of nationwide prenatal screening for trisomy 21, trisomy 13, and trisomy 18

  The Danish Cytogenetic Central Registry Study Group, 2021, In: Prenatal Diagnosis. 41, 2, p. 218-225 8 p.

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

  Open Access

  File
  3 Citations (Scopus)

  14 Downloads (Pure)

• Trisomy 8 mosaicism in the placenta: A Danish cohort study of 37 cases and a literature review

  Thomsen, S. H., Lund, I. C. B., Fagerberg, C., Bache, I., Becher, N. & Vogel, I., 2021, In: Prenatal Diagnosis. 41, 4, p. 409-421

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

  Open Access

  File
  7 Citations (Scopus)

  13 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

  File
  3 Citations (Scopus)

  59 Downloads (Pure)

• The phenotypic spectrum of prrt2-associated paroxysmal neurologic disorders in childhood

  Döring, J. H., Saffari, A., Bast, T., Brockmann, K., Ehrhardt, L., Fazeli, W., Janzarik, W. G., Kluger, G., Muhle, H., Møller, R. S., Platzer, K., Santos, J. L., Bache, I., Bertsche, A., Bonfert, M., Borggräfe, I., Broser, P. J., Datta, A. N., Hammer, T. B., Hartmann, H. & 20 others, Hasse-Wittmer, A., Henneke, M., Kühne, H., Lemke, J. R., Maier, O., Matzker, E., Merkenschlager, A., Opp, J., Patzer, S., Rostasy, K., Stark, B., Strzelczyk, A., von Stülpnagel, C., Weber, Y., Wolff, M., Zirn, B., Hoffmann, G. F., Kölker, S., Syrbe, S. & PRRT2-Study-Group, 2020, In: Biomedicines. 8, 11, p. 1-14 14 p., 456.

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

  Open Access

  File
  28 Citations (Scopus)

  39 Downloads (Pure)
• 2019

  Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway

  Karolak, J. A., Vincent, M., Deutsch, G., Gambin, T., Cogné, B., Pichon, O., Vetrini, F., Mefford, H. C., Dines, J. N., Golden-Grant, K., Dipple, K., Freed, A. S., Leppig, K. A., Dishop, M., Mowat, D., Bennetts, B., Gifford, A. J., Weber, M. A., Lee, A. F., Boerkoel, C. F. & 52 others, Bartell, T. M., Ward-Melver, C., Besnard, T., Petit, F., Bache, I., Tümer, Z., Denis-Musquer, M., Joubert, M., Martinovic, J., Bénéteau, C., Molin, A., Carles, D., André, G., Bieth, E., Chassaing, N., Devisme, L., Chalabreysse, L., Pasquier, L., Secq, V., Don, M., Orsaria, M., Missirian, C., Mortreux, J., Sanlaville, D., Pons, L., Küry, S., Bézieau, S., Liet, J-M., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C-H., Grange, D. K., Phillips, J. A., Pfotenhauer, J. P., Jhangiani, S. N., Gonzaga-Jauregui, C. G., Chung, W. K., Schauer, G. M., Lipson, M. H., Mercer, C. L., van Haeringen, A., Liu, Q., Popek, E., Coban Akdemir, Z. H., Lupski, J. R., Szafranski, P., Isidor, B., Le Caignec, C. & Stankiewicz, P., 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

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

  Open Access
  87 Citations (Scopus)

• 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

  Open Access

  File
  6 Citations (Scopus)

  35 Downloads (Pure)
• 2018

  De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation

  Basilicata, M. F., Bruel, A. L., Semplicio, G., Valsecchi, C. I. K., Aktaş, T., Duffourd, Y., Rumpf, T., Morton, J., Bache, I., Szymanski, W. G., Gilissen, C., Vanakker, O., Õunap, K., Mittler, G., van der Burgt, I., El Chehadeh, S., Cho, M. T., Pfundt, R., Tan, T. Y., Kirchhoff, M. & 21 others, Menten, B., Vergult, S., Lindstrom, K., Reis, A., Johnson, D. S., Fryer, A., McKay, V., Fisher, R. B., Thauvin-Robinet, C., Francis, D., Roscioli, T., Pajusalu, S., Radtke, K., Ganesh, J., Brunner, H. G., Wilson, M., Faivre, L., Kalscheuer, V. M., Thevenon, J., Akhtar, A. & DDD Study, 2018, In: Nature Genetics. 50, 10, p. 1442-1451 10 p.

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

• 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)
• 2017

  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

• 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.

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

  Open Access

  File
  334 Downloads (Pure)

• von Hippel-Lindau development in children and adolescents

  Launbjerg, K., Bache, I., Galanakis, M., Bisgaard, M. L. & Binderup, M. L. M., Sep 2017, In: American Journal of Medical Genetics. Part A. 173, 9, p. 2381-2394

  Research output: Contribution to journal › Journal article › Research › peer-review
  28 Citations (Scopus)
• 2016

  17q12 Deletion and Duplication Syndrome in Denmark: A Clinical Cohort of 38 Patients and Review of the Literature

  Rasmussen, M., Vestergaard, E. M., Graakjaer, J., Petkov, Y., Bache, I., Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, O. B., Brasch-Andersen, C. & Sunde, L., Nov 2016, In: American Journal of Medical Genetics. Part A. 170, 11, p. 2934-2942

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

• 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.

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

• Proximal 21q deletion as a result of a de novo unbalanced t(12;21) translocation in a patient with dysmorphic features, hepatomegaly, thick myocardium and delayed psychomotor development

  Jespersgaard, C., Damgaard, I. N., Cornelius, N., Bache, I., Knabe, N., Miranda, M. J. & Tümer, Z., 2016, In: Molecular Cytogenetics. 9, 7 p., 11.

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

  Open Access

  File
  8 Citations (Scopus)

  278 Downloads (Pure)

• Rare novel variants in the ZIC3 gene cause X-linked heterotaxy

  Paulussen, A. D. C., Steyls, A., Vanoevelen, J., van Tienen, F. H., Krapels, I. P. C., Claes, G. R., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & van den Wijngaard, A., Dec 2016, In: European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  17 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

• Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education

  Makransky, G., Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, I., Silahtaroglu, A. & Nørremølle, A., Mar 2016, In: B M C Medical Education. 16, 1, p. 1-9 9 p., 98.

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

  Open Access
  108 Citations (Scopus)
• 2015

  Analysis of t(9;17)(q33.2;q25.3) chromosomal breakpoint regions and genetic association reveals novel candidate genes for bipolar disorder

  Rajkumar, A. P., Christensen, J. H., Mattheisen, M., Jacobsen, I., Bache, I., Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., Tümer, Z., Mors, O. & Børglum, A. D., 1 Mar 2015, In: Bipolar Disorders (English Edition, Online). 17, 2, p. 205-211 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  20 Citations (Scopus)
• 2014

  3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

  Thevenon, J., Callier, P., Poquet, H., Bache, I., Menten, B., Malan, V., Cavaliere, M. L., Girod, J-P., Thauvin-Robinet, C., El Chehadeh, S., Pinoit, J-M., Huet, F., Verges, B., Petit, J-M., Mosca-Boidron, A-L., Marle, N., Mugneret, F., Masurel-Paulet, A., Novelli, A., Tümer, Z. & 3 others, Loeys, B., Lyonnet, S. & Faivre, L., Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  12 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
• 2012

  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
  27 Citations (Scopus)
• 2011

  A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1

  Buonincontri, R., Bache, I., Silahtaroglu, A., Elbro, C., Nielsen, A-M. V., Ullmann, R., Arkesteijn, G. & Tommerup, N., 1 Jan 2011, In: Behavior Genetics. 41, 1, p. 125-33 9 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  17 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., 2011, In: Clinical Genetics. 82, 3, p. 248-55 8 p.

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

• Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

  Cingöz, S., Bache, I., Bjerglund, L., Ropers, H-H., Tommerup, N., Jensen, H., Brøndum-Nielsen, K. & Tümer, Z., 1 Jan 2011, In: American Journal of Medical Genetics. Part A. 155A, 1, p. 203-6 4 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  7 Citations (Scopus)
• 2010

  Autoimmune diseases in women with Turner's syndrome

  Jørgensen, K. T., Rostgaard, K., Bache, I., Biggar, R. J., Nielsen, N. M., Tommerup, N. & Frisch, M., 2010, In: Arthritis & Rheumatism. 62, 3, p. 658-66 8 p.

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

• 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., 1 Dec 2010, In: American Journal of Medical Genetics. Part A. 152A, 12, p. 3115-9 5 p.

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

• Haploinsufficiency of TAB2 causes congenital heart defects in humans

  Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L-C., Van Loo, P., Møllgård, K., Tommerup, N., Bache, I., Tümer, Z., van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K. & Larsen, L. A., 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  84 Citations (Scopus)
• 2008

  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., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H-H., Ullmann, R., Bache, I., Tümer, Z. & Tommerup, N., 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.

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

  Open Access

  File
  13 Citations (Scopus)

  1961 Downloads (Pure)

• A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes

  Buonincontri, R., Bache, I., Grigorenko, E. L. & Tommerup, N., 2008, In: Cellular Oncology. 30, 3, p. 250 1 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
• 2007

  Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements

  Bache, I., Nielsen, N. M., Rostgaard, K., Tommerup, N. & Frisch, M., 2007, In: Arthritis and Rheumatism. 56, 7, p. 2402-2409 7 p.

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

  9 Citations (Scopus)

• Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome

  Belloso, J. M., Bache, I., Guitart, M., Caballin, M. R., Halgren, C., Kirchhoff, M., Ropers, H. H., Tommerup, N. & Tümer, A. Z., 2007, In: European Journal of Human Genetics. 15, 6, p. 711-713 2 p.

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

  67 Citations (Scopus)

• Genetic counseling in adult carriers of a balanced chromosomal rearrangement ascertained in childhood: Experiences from a nationwide reexamination of translocation carriers

  Bache, I., Brøndum-Nielsen, K. & Tommerup, N., 2007, In: Genetics In Medicine. 9, 3, p. 185-187 2 p.

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

  10 Citations (Scopus)

• Re-examination of carriers of balanced structural rearrangements

  Bache, I., 2007

  Research output: Book/Report › Ph.D. thesis › Research
• 2006

  4q35 deletion and 10p15 duplication associated with immunodeficiency

  Cingoz, S., Bisgaard, A. M., Bryndorf, T., Kirchoff, M., Petersen, W., Ropers, H. H., Maas, N., Buggenhout, G. V., Tommerup, N., Tümer, Z. & Bache, I., 2006, In: American Journal of Medical Genetics. Part A. 140A, 20, p. 2231-2235 4 p.

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

  9 Citations (Scopus)

• Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris

  Tzschach, A., Hoffmann, K., Hoeltzenbein, M., Bache, I., Tommerup, N., Bommer, C., Korner, H., Kalscheuer, V. & Ropers, H. H., 2006, In: Clinical Genetics. 69, 2, p. 189-193 4 p.

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

  8 Citations (Scopus)

• Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement

  Bache, I., Hasle, H., Tommerup, N. & Olsen, J. H., 2006, In: Genes, Chromosomes & Cancer. 45, 3, p. 231-246 15 p.

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

  11 Citations (Scopus)

• Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases

  Bache, I., Hjorth, M., Bugge, M., Holstebroe, S., Hilden, J., Schmidt, L., Brondum-Nielsen, K., Bruun-Petersen, G., Jensen, P. K. A., Lundsteen, C., Niebuhr, E., Rasmussen, K. & Tommerup, N., 2006, In: European Journal of Human Genetics. 14, 4, p. 410-7 7 p.

  Research output: Contribution to journal › Journal article › Research › peer-review
  18 Citations (Scopus)
• 2005

  The eponymous Jacobsen syndrome: mapping the breakpoints of the original family suggests an association between the distal 1.1. Mb of chromosome 21 and osteoporosis in Down syndrome

  Tümer, Z. A., Henriksen, A. M., Bache, I., Larsen, L. A., Brixen, K., Illum, N., Rasmussen, K. & Tommerup, N., 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341

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

  4 Citations (Scopus)
• 2004

  An excess of chromosome 1 breakpoints in male infertility

  Bache, I., Assche, E. V., Cingöz, S., Bugge, M., Tümer, Z. A., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondom-Nielsen, K., Bruun-Pedersen, G. & 39 others, Croquette, M. F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H. C., Duprez, L., Ferguson-Smith, M., Fitzpatrick, D. R., Grace, E., Hansmann, I., Hulten, M., Jensen, P. K., Jonveaux, P., Kristoffersen, U., Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, K., Schempp, W., Schubert, R., Schwinger, E., Shabtai, F., Smith, K., Stallings, R., Stefanova, M., Tranebjærg, L., Turleau, C., van der Hagen, C. B., Vekemans, M., Vokac, N. K., Wagner, K., Wahlstroem, J., Zelante, L. & Tommerup, N., 2004, In: European Journal of Human Genetics. Vol. 12, p. 993-1000

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

  60 Citations (Scopus)