Iben Bache

Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

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  1. Published

    Autoimmune diseases in women with Turner's syndrome

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

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

  2. Published

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

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

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

  3. Published

    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, Nina la Cour, Bliddal, S., Søndergaard, T. J., Ostrowski, Sisse Rye, Sørensen, E., Larsen, M. A. H., Herregård, M. J., Chan , Andrew , 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, Ellen Christine Leth, Bredkjær, H. E., Wilken-Jensen, C. & COPL consortium, C. C., 2023, In: The Lancet. 401, 10378, p. 762-771 10 p.

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

  4. Published

    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, Iben, Tümer, Asuman Zeynep, 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., Joram, N., Bihouée, T., Scott, D. A., Brown, C. W., Scaglia, F., Tsai, A. C., 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

  5. Published

    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, Niels & Bache, Iben, 2011, In: Clinical Genetics. 82, 3, p. 248-55 8 p.

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

  6. Published

    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, D. S., 2018, In: Nature Genetics. 50, 10, p. 1442-1451 10 p.

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

  7. Published

    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, Iben, Andersen, N. B., Ullmann, R., Tommerup, Niels & Tümer, Asuman Zeynep, 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

  8. Published

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

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

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

  9. Published

    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, Iben, Mundlos, S. & Tommerup, Niels, 2017, In: Molecular Cytogenetics. 10, S1, p. 68

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

  10. Published

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

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

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

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ID: 33969897