Iben Bache

Research output

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

• 31 Journal article
• 3 Conference abstract in journal
• 1 Ph.D. thesis
• 1 Conference abstract for conference

Research output per year

Research output per year

Search results

• 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 othersBartell, 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., 7 Feb 2019, In: American Journal of Human Genetics. 104, 2, p. 213-228 16 p.

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

  • Multifactorial Inheritance 100%
  • Lung 43%
  • Nucleotides 16%
  • Organogenesis 8%
  • Human Development 7%
  33 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., 1 Aug 2019, In: European Journal of Human Genetics. 27, 8, p. 1296-1303 8 p.

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

  • Haploinsufficiency 100%
  • Hypertension 50%
  • Obesity 40%
  • Genome-Wide Association Study 40%
  • Blood Pressure 37%
  3 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.

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

  • Mobius Syndrome 100%
  • plexin 95%
  • Semaphorins 87%
  • Chromothripsis 42%
  • Abducens Nerve 17%
  3 Citations (Scopus)
• 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 othersMenten, 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

  • Acetylation 100%
  • Lysine 92%
  • Histones 89%
  • Chromatin 56%
  • Mutation 53%
  12 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 othersHansen, 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

  • Morbidity 100%
  • Developmental Genes 57%
  • First Pregnancy Trimester 43%
  • Routine Diagnostic Tests 39%
  • Research Design 33%
  15 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

• 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 othersBojesen, 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., 29 Jun 2017, p. 70. 1 p.

  Research output: Contribution to conference › Conference abstract for conference › Research › peer-review

• von Hippel-Lindau development in children and adolescents

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

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

  • Adolescent Development 100%
  • von Hippel-Lindau Disease 85%
  • Child Development 75%
  • Hemangioblastoma 58%
  • Guidelines 13%
  6 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., 1 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

  • Denmark 100%
  • Learning Disabilities 34%
  • Language Development 23%
  • Strabismus 21%
  • Counseling 16%
  20 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 othersCoulbaut, 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., 1 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

  • Generalized Epilepsy 100%
  • Retinoids 83%
  • Cytoplasmic and Nuclear Receptors 75%
  • Epilepsy 62%
  • Genes 29%
  16 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., 4 Feb 2016, In: Molecular Cytogenetics. 9, 7 p., 11.

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

  • Hepatomegaly 100%
  • Microarrays 90%
  • Chromosome 21 monosomy 75%
  • Myocardium 69%
  • Monosomy 58%
  6 Citations (Scopus)

  110 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., 1 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

  • X-Linked Genes 100%
  • Zinc Fingers 44%
  • Zebrafish Proteins 33%
  • Genes 23%
  • Zebrafish 19%
  9 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., 25 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

  • counseling 100%
  • simulation 98%
  • learning environment 91%
  • intrinsic motivation 83%
  • self-efficacy 75%
  65 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

  • Bipolar Disorder 100%
  • Deoxyribonuclease (Pyrimidine Dimer) 61%
  • Schizophrenia 42%
  • Genes 41%
  • neuronal pentraxin 32%
  12 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 othersLoeys, 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

  • Mood Disorders 100%
  • Intellectual Disability 97%
  • Psychotic Disorders 96%
  • Scoliosis 44%
  • Arachnodactyly 35%
  8 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

  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 othersAndrieux, J., Dieux, A., Tommerup, N. & Bache, I., Sept 2012, In: Clinical Genetics. 82, 3, p. 248-55 8 p.

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

  • Haploinsufficiency 100%
  • Corpus Callosum 87%
  • Autistic Disorder 77%
  • Intellectual Disability 73%
  • Chromosome Breakpoints 20%
  87 Citations (Scopus)

• 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

  • Eye Manifestations 100%
  • Haploinsufficiency 98%
  • Epilepsy 64%
  • Obesity 53%
  • Phenotype 46%
  20 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

  • reciprocal translocation 100%
  • Dyslexia 95%
  • translocation 78%
  • gene 57%
  • linkage (genetics) 44%
  14 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

  • Plagiocephaly 100%
  • Congenital Heart Defects 71%
  • Blepharophimosis 26%
  • Chromosomes, Human, Pair 14 20%
  • Language Development Disorders 20%
  6 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., Mar 2010, In: Arthritis & Rheumatism. 62, 3, p. 658-66 8 p.

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

  • Turner Syndrome 100%
  • Autoimmune Diseases 68%
  • Confidence Intervals 31%
  • Incidence 25%
  • Hashimoto Disease 10%
  101 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

  • Language Development Disorders 100%
  • Amenorrhea 85%
  • Intellectual Disability 70%
  • Siblings 68%
  • Autism Spectrum Disorder 25%
  28 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., 11 Jul 2010, In: American Journal of Human Genetics. 86, 6, p. 839-49 10 p.

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

  • Haploinsufficiency 100%
  • Congenital Heart Defects 91%
  • Genes 31%
  • Zebrafish 26%
  • Monosomy 6q Chromosome 6 22%
  57 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

  • Myopia 100%
  • Autistic Disorder 89%
  • Autism Spectrum Disorder 77%
  • Genes 36%
  • Chromosomes 23%
  11 Citations (Scopus)

  1727 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

  8 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

  62 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

  9 Citations (Scopus)

• Re-examination of carriers of balanced structural rearrangements

  Bache, I., 2007

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

  8 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

  • Dyslexia 100%
  • Lod Score 55%
  • Genetic Association Studies 41%
  • Cytogenetics 38%
  • Inborn Genetic Diseases 36%
  17 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 othersCroquette, 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

  53 Citations (Scopus)