Iben Bache
Guest researcher
Medical Genetics Program
Blegdamsvej 3
2200 København N.
- Published
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, Iben, Fagerberg, C., Kibaek, M., Svaneby, D., Petersen, Olav Bennike Bjørn, Brasch-Andersen, C. & Sunde, L., Nov 2016, In: American Journal of Medical Genetics. Part A. 170, 11, p. 2934-2942Research output: Contribution to journal › Journal article › Research › peer-review
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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, , Jan 2014, In: Journal of Medical Genetics. 51, 1, p. 21-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, Niels, Tümer, Asuman Zeynep & Bache, Iben, 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
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Gilling, M., Lauritsen, M. B., Møller, Morten, Henriksen, K. F., Vicente, A., Oliveira, G., Cintin, C., Eiberg, Hans Rudolf Lytchoff, Andersen, P. S., Mors, O., Rosenberg, T., Brøndum-Nielsen, K., Cotterill, R. M. J., Lundsteen, C., Ropers, H., Ullmann, R., Bache, Iben, Tümer, Asuman Zeynep & Tommerup, Niels, 2008, In: European Journal of Human Genetics. 16, 3, p. 312-9 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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A cohort of balanced reciprocal translocations associated with dyslexia: identification of two putative candidate genes at DYX1
Buonincontri, R., Bache, Iben, Silahtaroglu, Asli, Elbro, Carsten, Nielsen, A. V., Ullmann, R., Arkesteijn, G. & Tommerup, Niels, 1 Jan 2011, In: Behavior Genetics. 41, 1, p. 125-33 9 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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A systematic chromosomal approach for detection of novel candidate dyslexia loci and genes
Buonincontri, R., Bache, Iben, Grigorenko, E. L. & Tommerup, Niels, 2008, In: Cellular Oncology. 30, 3, p. 250 1 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2004, In: European Journal of Human Genetics. Vol. 12, p. 993-1000Research output: Contribution to journal › Journal article › Research › peer-review
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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, Iben, Pallesen, J., Grove, J., Qvist, P., McQuillin, A., Gurling, H. M., Tümer, Asuman Zeynep, 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
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Autoimmune diseases in a Danish cohort of 4,866 carriers of constitutional structural chromosomal rearrangements
Bache, Iben, Nielsen, N. M., Rostgaard, K., Tommerup, Niels & Frisch, M., 2007, In: Arthritis and Rheumatism. 56, 7, p. 2402-2409 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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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
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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, , 2023, In: The Lancet. 401, 10378, p. 762-771 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2011, In: Clinical Genetics. 82, 3, p. 248-55 8 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 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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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
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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
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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. 68Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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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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Haploinsufficiency of ARHGAP42 is associated with hypertension
Fjorder, A. S., Rasmussen, Malene Bøgehus, Mehrjouy, M. M., Nazaryan-Petersen, L., 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
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Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity
Harding, Christina Halgren, Bache, Iben, Bak, M., Myatt, M. W., Anderson, C. M., Brøndum-Nielsen, K. & Tommerup, Niels, 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
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Haploinsufficiency of TAB2 causes congenital heart defects in humans
Thienpont, B., Zhang, L., Postma, A. V., Breckpot, J., Tranchevent, L., Van Loo, P., Møllgård, Kjeld, Tommerup, Niels, Bache, Iben, Tümer, Asuman Zeynep, van Engelen, K., Menten, B., Mortier, G., Waggoner, D., Gewillig, M., Moreau, Y., Devriendt, K. & Larsen, Lars Allan, 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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
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Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects
Cingöz, S., Bache, Iben, Bjerglund, L., Ropers, H., Tommerup, Niels, Jensen, H., Brøndum-Nielsen, K. & Tümer, Asuman Zeynep, 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
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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, , 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
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Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris
Tzschach, A., Hoffmann, K., Hoeltzenbein, M., Bache, Iben, Tommerup, Niels, 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
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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, Merete, Kalscheuer, V. M., Bache, Iben, Hancks, D. C. & Tommerup, Niels, 2019, In: Human Mutation. 40, 8, p. 1057-1062Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2017, In: Molecular Cytogenetics. 10, S1, p. 70 1 p., 7.P1.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Population-based study of cancer among carriers of a constitutional structural chromosomal rearrangement
Bache, Iben, Hasle, H., Tommerup, Niels & 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
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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, Iben, Knabe, N., Miranda, Maria J. & Tümer, Asuman Zeynep, 2016, In: Molecular Cytogenetics. 9, 7 p., 11.Research output: Contribution to journal › Journal article › Research › peer-review
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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, Iben, 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
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Re-Examination of Danish Carriers of Balanced Chromosomal Inversions
Rasmussen, Malene Bøgehus, Bache, Iben, Mehrjouy, M. M., Silahtaroglu, Asli, Kjaergaard, S., Brondum-Nielsen, K., Jensen, P. K. A., Vogel, I., Hertz, J. M., Fagerberg, C., Bojesen, Anders Miki, Petersen, M. B., Hansen, J., Halgren, C., Bak, M. & Tommerup, Niels, May 2016, In: Cancer genetics. 209, 5, p. 231-231Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Re-examination of carriers of balanced structural rearrangements
Bache, Iben, 2007Research output: Book/Report › Ph.D. thesis › Research
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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, , 2018, In: American Journal of Human Genetics. 102, 6, p. 1090-1103 14 p.Research output: Contribution to journal › Journal article › Research › peer-review
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Saturation of the Human Genome with Chromosomal Breakpoints
Rasmussen, Malene Bøgehus, Schlechter, C. L., Mehrjouy, M. M., Bache, Iben, Lind-Thomsen, A., Silahtaroglu, Asli, 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, Christina Halgren, Bak, M., Jacky, P. & Tommerup, Niels, 2014, In: Cytogenetic and Genome Research. 142, 3, 2 p., 2.Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
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Simulation based virtual learning environment in medical genetics counseling: an example of bridging the gap between theory and practice in medical education
Makransky, Guido, Bonde, M. T., Wulff, J. S. G., Wandall, J., Hood, M., Creed, P. A., Bache, Iben, Silahtaroglu, Asli & Nørremølle, Anne, 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
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Systematic re-examination of carriers of balanced reciprocal translocations: a strategy to search for candidate regions for common and complex diseases
Bache, Iben, Hjorth, M., Bugge, Merete, Holstebroe, S., Hilden, Jørgen, Schmidt, Lone, Brondum-Nielsen, K., Bruun-Petersen, G., Jensen, P. K. A., Lundsteen, C., Niebuhr, E., Rasmussen, K. & Tommerup, Niels, 2006, In: European Journal of Human Genetics. 14, 4, p. 410-7 7 p.Research output: Contribution to journal › Journal article › Research › peer-review
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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, Asuman Zeynep, Henriksen, A. M., Bache, Iben, Larsen, Lars Allan, Brixen, K., Illum, N., Rasmussen, K. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics. Vol. 135A, p. 339-341Research output: Contribution to journal › Journal article › Research › peer-review
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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, , 2020, In: Biomedicines. 8, 11, p. 1-14 14 p., 456.Research output: Contribution to journal › Journal article › Research › peer-review
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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. 409-421Research output: Contribution to journal › Journal article › Research › peer-review
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von Hippel-Lindau development in children and adolescents
Launbjerg, K., Bache, Iben, Galanakis, M., Bisgaard, M. L. & Binderup, M. L. M., Sep 2017, In: American Journal of Medical Genetics. Part A. 173, 9, p. 2381-2394Research output: Contribution to journal › Journal article › Research › peer-review
ID: 33969897
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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia.
Research output: Contribution to journal › Journal article › Research › peer-review
Published -
315
downloads
NGS mapped breakpoints in balanced chromosomal rearrangements including the first large cohort of healthy carriers
Research output: Contribution to journal › Conference abstract in journal › Research › peer-review
Published -
233
downloads
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
Research output: Contribution to journal › Journal article › Research › peer-review
Published