Iben Bache

Iben Bache

Guest researcher

ORCID: 0000-0001-7562-8546

Publication year:
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1 - 10 out of 42Page size: 10
  1. 2023
  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. 2021
  5. Published

    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, T. D. C. C. R. S. G., 2021, In: Prenatal Diagnosis. 41, 2, p. 218-225 8 p.

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

  6. Published

    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, Iben, Becher, N. & Vogel, I., 2021, In: Prenatal Diagnosis. 41, 4, p. 409-421

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

  7. 2020
  8. Published

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

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

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

  9. Published

    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, P., 2020, In: Biomedicines. 8, 11, p. 1-14 14 p., 456.

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

  10. 2019
  11. 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

  12. Published

    Haploinsufficiency of ARHGAP42 is associated with hypertension

    Fjorder, A. S., Rasmussen, Malene Bøgehus, Mehrjouy, M. M., Nazaryan, Lusine, Hansen, C., Bak, M., Grarup, Niels, Nørremølle, Anne, Larsen, Lars Allan, drb459, drb459, Hansen, Torben, Tommerup, Niels & Bache, Iben, 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.

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

  13. Published

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

    Nazaryan, Lusine, Oliveira, I. R., Mehrjouy, M. M., Mendez, J. M. M., Bak, M., Bugge, Merete, Kalscheuer, V. M., Bache, Iben, Hancks, D. C. & Tommerup, Niels, 2019, In: Human Mutation. 40, 8, p. 1057-1062

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

  14. 2018
  15. 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

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ID: 33969897