Hans Rudolf Lytchoff Eiberg

Hans Rudolf Lytchoff Eiberg

Associate Professor

ORCID: 0000-0002-4140-1578

Publication year:
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1 - 100 out of 189Page size: 100
  1. 2023
  2. Published

    A family with ulcerative colitis maps to 7p21.1 and comprises a region with regulatory activity for the aryl hydrocarbon receptor gene

    Eiberg, Hans Rudolf Lytchoff, Olsson, J. B., Bak, M., Bang-Berthelsen, C. H., Troelsen, J. T. & Hansen, Lars, 2023, In: European Journal of Human Genetics. 31, p. 1440-1446 7 p.

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

  3. Published

    Serotonin 4 Receptor Brain Binding in Major Depressive Disorder and Association With Memory Dysfunction

    Koehler-Forsberg, K., Dam, Vibeke Høyrup, Ozenne, Brice Maxime Hugues, Sankar, A., Beliveau, V., Landman, E. B., Larsen, S. V., Poulsen, A. S., Ip, C., Jørgensen, Anders, Meyer, M., Stenbæk, Dea Siggaard, Eiberg, Hans Rudolf Lytchoff, Madsen, J., Svarer, C., Jørgensen, Martin Balslev, Frøkjær, Vibe Gedsø & Knudsen, Gitte Moos, 2023, In: JAMA Psychiatry. 80, 4, p. 296-304 9 p.

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

  4. 2020
  5. Published

    Human leukocyte antigen association with familial steroid-sensitive nephrotic syndrome

    Korsgaard, T., Joshi, S., Andersen, R. F., Moeller, K., Seeman, T., Podracká, L., Eiberg, Hans Rudolf Lytchoff & Rittig, S., 2020, In: European Journal of Pediatrics. 179, 9, p. 1481-1486 6 p.

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

  6. Published

    Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Bech, S., Løkkegaard, Annemette, Nielsen, T. T., Nørremølle, Anne, Grønborg, S., Hasholt, Lis Frydenreich, Steffensen, G. K., Graehn, G., Olesen, J. H., Tommerup, Niels, Mang, Y., Bak, M., Nielsen, Jørgen Erik, Eiberg, Hans Rudolf Lytchoff & Hjermind, L. E., 2020, In: Movement Disorders. 35, 12, p. 2343-2347

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

  7. Published

    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

    Farooq, M., Lindbæk, L., Krogh, N., Doganli, C., Keller, C., Mönnich, M., Gonçalves, A. B., Sakthivel, S., Mang, Y., Fatima, A., Andersen, V. S., Hussain, M. S., Eiberg, H., Hansen, L., Kjaer, K. W., Gopalakrishnan, J., Pedersen, L. B., Møllgård, K., Nielsen, H., Baig, S. M. & 3 others, Tommerup, Niels, Christensen, Søren Tvorup & Larsen, Lars Allan, 2020, In: Nature Communications. 11, 16 p., 5816.

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

  8. 2019
  9. Published

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

    Eiberg, Hans Rudolf Lytchoff, Mikkelsen, Annemette Friis, Bak, M., Tommerup, Niels, Lund, A. M., Wenzel, Anne, Sabarinathan, R., Gorodkin, Jan, Bang-Berthelsen, C. H. & Hansen, Lars, 2019, In: Molecular Vision. 25, p. 1-11 11 p.

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

  10. Published

    Migraine is associated with high brain 5-HT levels as indexed by 5-HT4 receptor binding

    Deen, M., Hougaard, Anders, Hansen, H. D., Svarer, C., Eiberg, Hans Rudolf Lytchoff, Lehel, S., Knudsen, Gitte Moos & dlt446, dlt446, 2019, In: Cephalalgia. 39, 4

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

  11. 2018
  12. Published

    Gastroschise og Omphalocele i Grønland 1989-2015

    Bugge, Merete, Drachmann, G., Kern, P., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Olsen, B., Tommerup, Niels & Nielsen, I., Jan 2018, In: Nakorsanut. 43, 1, p. 20-22 3 p.

    Research output: Contribution to journal › Journal article › Research

  13. Published

    Benchmarking the HLA typing performance of Polysolver and Optitype in 50 Danish parental trios

    Matey-Hernandez, M. L., Danish Pan Genome Consortium, D. P. G. C., Brunak, Søren, Izarzugaza, J. M. G., Sørensen, L. M., Petersen, Bent, Sibbesen, Jonas Andreas, Liu, S., Belling, K. G., Have, C. T., Bork-Jensen, J., Sun, J., Hansen, Torben, Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Wang, J., Eiberg, Hans Rudolf Lytchoff & Kristiansen, Karsten, 2018, In: BMC Bioinformatics. 19, p. 1-12 239.

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

  14. Published

    Genetic Variations, Exposure to Persistent Organic Pollutants and Breast Cancer Risk: A Greenlandic Case–Control Study

    Wielsøe, M., Eiberg, Hans Rudolf Lytchoff, Ghisari, M., Kern, P., Lind, O. & Bonefeld-Jørgensen, E. C., 2018, In: Basic & Clinical Pharmacology & Toxicology. 123, 3, p. 335-346 12 p.

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

  15. Published

    Genetic insights into fetal growth and measures of glycaemic regulation and adiposity in adulthood: a family-based study

    Hollensted, M., Ekstrøm, Claus Thorn, Pedersen, Oluf Borbye, Eiberg, Hans Rudolf Lytchoff, Hansen, Torben & Gjesing, A. P., 2018, In: BMC Medical Genetics. 19, p. 1-9 9 p., 207.

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

  16. Published

    High brain serotonin levels in migraine between attacks: A 5-HT4 receptor binding PET study

    Deen, M., Hansen, H. D., Hougaard, A., Nørgaard, M., Eiberg, Hans Rudolf Lytchoff, Lehel, S., dlt446, dlt446 & Knudsen, Gitte Moos, 2018, In: NeuroImage: Clinical. 18, p. 97-102 6 p.

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

  17. 2017
  18. Published

    Assembly and analysis of 100 full MHC haplotypes from the Danish population

    Jensen, J. M., Villesen, P., Friborg, R. M., Mailund, T., Besenbacher, S., Sørensen, L. M., Petersen, B., Sibbesen, J. A., Liu, S., Skov, L., Belling, K. G., Have, C. T., Izarzugaza, J. M. G., Grosjean, M., Bork-Jensen, J., Grove, J., Als, T. D., Huang, S., Chang, Y., Xu, R. & 39 others, Ye, W., Rao, J., Guo, X., Sun, J., Cao, H., Ye, C., Beusekom, J. V., Espeseth, T., Flindt, E., Halager, A. E., Hellard, S. L., Hultman, C. M., Lescai, F., Li, S., Lund, O., Løngren, P., Matey-Hernandez, M. L., Mors, O., Pedersen, C. N. S., Sicheritz-Pontén, T., Sullivan, P., Syed, A., Westergaard, D., Yadav, R., Li, N., Xu, X., Hansen, Torben, Bolund, L., Krogh, Anders, Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Gupta, R., Rasmussen, Simon, Børglum, A. D., Wang, J., Eiberg, Hans Rudolf Lytchoff, Kristiansen, Karsten, Brunak, Søren & Schierup, M. H., Sep 2017, In: Genome Research. 27, 9, p. 1597-1607 11 p.

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

  19. Published

    A Genome-Wide Association Study of IVGTT-Based Measures of First Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

    Wood, A. R., Jonsson, A., Jackson, A. U., Wang, T-N., van Leewen, N., Palmer, N. D., Kobes, S., Deelen, J., Boquete-Vilarino, L., Paananen, J., Stančáková, A., Boomsma, D. I., de Geus, E. J., Eekhoff, E. M., Fritsche, A., Kramer, M., Nijpels, G., Simonis-Bik, A. M. C., van Haeften, T. W., Mahajan, A. & 31 others, Boehnke, M., Bergman, R. N., Tuomilehto, J., Collins, F. S., Mohlke, K. L., Banasik, Karina, Groves, C. J., McCarthy, M. I., Pearson, E. R., Natali, A., Mari, A., Buchanan, T. A., Taylor, K. D., Xiang, A. H., Gjesing, A. P., Grarup, Niels, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Chen, Y., Laakso, M., Norris, J. M., Smith, U., Wagenknecht, L. E., Baier, L., Bowden, D. W., Hansen, Torben, Walker, M., Watanabe, R. M., 't Hart, L. M., Hanson, R. L. & Frayling, T. M., 2017, In: Diabetes. 66, 8, p. 2296-2309

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

  20. Published

    Abdominal Wall Defects in Greenland 1989–2015

    Bugge, Merete, Drachmann, G., Kern, P., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Olsen, B., Tommerup, Niels & Nielsen, I. M., 2017, In: Birth Defects Research. Part A: Clinical and Molecular Teratology. 109, 11, p. 836-842 7 p.

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

  21. Published

    Heredity of supraglottic exercise-induced laryngeal obstruction

    Walsted, E. S., Hvedstrup, J., Eiberg, Hans Rudolf Lytchoff & Backer, Vibeke, 2017, In: European Respiratory Journal. 50, 2, 3 p., 1700423.

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

  22. Published

    Heterogeneity in glucose response curves during an oral glucose tolerance test and associated cardiometabolic risk

    Hulman, A., Simmons, R. K., Vistisen, D., Tabák, A. G., Dekker, J. M., Alssema, M., Rutters, F., Koopman, A. D. M., Solomon, T. P. J., Kirwan, J. P., Hansen, Torben, Jonsson, Anna Elisabet, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Astrup, A., Pedersen, Oluf Borbye, Sørensen, Thorkild I.A., Witte, D. & Færch, K., 2017, In: Endocrine. 55, 2, p. 427-434 8 p.

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

  23. Published

    High brain serotonin levels in migraine between attacks: A 5-HT4-receptor binding PET study

    Deen, M., Hansen, H. D., Hougaard, A., Eiberg, Hans Rudolf Lytchoff, Lehel, S., dlt446, dlt446 & Knudsen, Gitte Moos, 2017, In: Cephalalgia. 37, 1_suppl, p. 66-66 PO-01-023.

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

  24. Published

    Mere om Genetik og høsommerfugle. Ikke Mendelsk arvegang af farven hos orange høsommerfugl Colias croceus Geoffr.

    Eiberg, Hans Rudolf Lytchoff, 2017, In: Lepidoptera. 11, 4, p. 124-130 7 p.

    Research output: Contribution to journal › Journal article › Communication

  25. Published

    Sequencing and de novo assembly of 150 genomes from Denmark as a population reference

    Sørensen, L. M., Jensen, J. M., Petersen, B., Sibbesen, J. A., Liu, S., Villesen, P., Skov, L., Belling, K. G., Have, C. T., Izarzugaza, J. M. G., Grosjean, M., Bork-Jensen, J., Grove, J., Als, T. D., Huang, S., Chang, Y., Xu, R., Ye, W., Rao, J., Guo, X. & 39 others, Sun, J., Cao, H., Ye, C., van Beusekom, J., Espeseth, T., Flindt, E., Friborg, R. M., Halager, A. E., Le Hellard, S., Hultman, C. M., Lescai, F., Li, S., Lund, O., Løngren, P., Mailund, T., Matey-Hernandez, M. L., Mors, O., Pedersen, C. N. S., Sicheritz-Pontén, T., Sullivan, P., Syed, A., Westergaard, David, Yadav, R., Li, N., Xu, X., Hansen, Torben, Krogh, Anders, Bolund, L., Sørensen, Thorkild I.A., Pedersen, Oluf Borbye, Gupta, R., Rasmussen, Simon, Besenbacher, S., Børglum, A. D., Wang, J., Eiberg, Hans Rudolf Lytchoff, Kristiansen, Karsten, Brunak, Søren & Schierup, M. H., 2017, In: Nature. 548, 7665, p. 87-91 5 p.

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

  26. 2016
  27. Published

    Genetic Correlation between Body Fat Percentage and Cardiorespiratory Fitness Suggests Common Genetic Etiology

    Schnurr, T. M., Gjesing, A. M. P., Sandholt, C. H., Jonsson, Anna Elisabet, Mahendran, Y., Have, C. T., Ekstrøm, Claus Thorn, Bjerregaard, A., Brage, S., Witte, D., Jørgensen, M. E., Aadahl, Mette, Thuesen, B. H., Linneberg, Allan René, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Grarup, Niels, Kilpeläinen, Tuomas O. & Hansen, Torben, 15 Nov 2016, In: P L o S One. 11, 11, 14 p., e0166738.

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

  28. Published

    Familial Steroid Sensitive Nephrotic Syndrome: Linkage data to Chromosome 15 and 6

    Joshi, S., Andersen, R. F., Moeller, K., Seeman, T., Podracka, L., Eiberg, Hans Rudolf Lytchoff & Rittig, S., Oct 2016, In: Pediatric Nephrology. 31, 10, p. 1835-1835

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

  29. Published

    PKD or Not PKD: That Is the Question Reply

    Gardella, E., Beniczky, S., Moller, R. S., Becker, F., Lemke, J. R., Syrbe, S., Eiberg, Hans Rudolf Lytchoff, Bast, T., Steinhoff, B., Nuernberg, P., Gellert, P., Dahl, H. A., Weckhuysen, S., Heron, S. E., Dibbens, L. M., Hjalgrim, H., Lerche, H. & Weber, Y. G., Jul 2016, In: Annals of Neurology. 80, 1, p. 168-169

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

  30. Published

    Benign Infantile Seizures and Paroxysmal Dyskinesia Caused by an SCN8A Mutation

    Gardella, E., Becker, F., Moller, R. S., Schubert, J., Lemke, J. R., Larsen, L. H. G., Eiberg, H., Nothnagel, M., Thiele, H., Altmueller, J., Syrbe, S., Merkenschlager, A., Bast, T., Steinhoff, B., Nuernberg, P., Mang, Y., Moller, L. B., Gellert, P., Heron, S. E., Dibbens, L. M. & 8 others, Weckhuysen, S., Dahl, H. A., Biskup, S., Tommerup, Niels, Hjalgrim, H., Lerche, H., Beniczky, S. & Weber, Y. G., Mar 2016, In: Annals of Neurology. 79, 3, p. 428-436

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

  31. Published

    Blood-based biomarkers of age-associated epigenetic changes in human islets associate with insulin secretion and diabetes

    Bacos, K., Gillberg, L., Volkov, P., Olsson, A. H., Hansen, Torben, Pedersen, Oluf Borbye, Gjesing, A. M. P., Eiberg, Hans Rudolf Lytchoff, Tuomi, T., Almgren, P., Groop, L., Eliasson, L., Vaag, Allan, Dayeh, T. & Ling, C., 2016, In: Nature Communications. 7, 13 p., 11089.

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

  32. 2015
  33. Published

    The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24

    Rudkjøbing, L. A., Eiberg, Hans Rudolf Lytchoff, Mikkelsen, H. B., Binderup, M. L. M. & Bisgaard, S. M. L., Sep 2015, In: Familial Cancer. 14, 3, p. 393-400 8 p.

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

  34. Published

    Associations of the Inflammatory Marker YKL-40 with Measures of Obesity and Dyslipidaemia in Individuals at High Risk of Type 2 Diabetes

    Thomsen, S. B., Gjesing, A. M. P., Rathcke, C. N., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Hansen, T., Pedersen, Oluf Borbye & drb459, drb459, 21 Jul 2015, In: PLOS ONE. 10, 7, p. 1-10 10 p., e0133672.

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

  35. Published

    Genetic and phenotypic correlations between surrogate measures of insulin release obtained from OGTT data

    Gjesing, A. M. P., Ribel-Madsen, R., Harder, M. N., Eiberg, Hans Rudolf Lytchoff, Grarup, Niels, Jørgensen, T., Ekstrøm, Claus Thorn, Pedersen, Oluf Borbye & Hansen, Torben, May 2015, In: Diabetologia. 58, 5, p. 1006-1012 7 p.

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

  36. Published

    Novel variation and de novo mutation rates in population-wide de novo assembled Danish trios

    Besenbacher, S., Liu, S., Gonzalez-Izarzugaza, J. M., Grove, J., Belling, K. G., Bork-Jensen, J., Huang, S., Als, T. D., Li, S., Yadav, R., Rubio García, A., Lescai, F., Demontis, D., Rao, J., Ye, W., Mailund, T., Møllegaard Friborg, R., Pedersen, C. N. S., Xu, R., Sun, J. & 27 others, Liu, H., Wang, O., Cheng, X., Flores, D., Rydza, E. K., Rapacki, K., Sørensen, J. D., Chmura, P. J., Westergaard, David, Dworzynski, P., Sørensen, Thorkild I.A., Lund, O., Hansen, Torben, Xu, X., Li, N., Bolund, L., Pedersen, Oluf Borbye, Eiberg, Hans Rudolf Lytchoff, Krogh, Anders, Børglum, A. D., Brunak, Søren, Kristiansen, Karsten, Schierup, M. H., Wang, J., Gupta, R., Villesen, P. & Rasmussen, Simon, 2015, In: Nature Communications. 6, 9 p., 5969.

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

  37. 2014
  38. Published

    Epigenetic remodelling and dysregulation of DLGAP4 is linked with early-onset cerebellar ataxia

    Minocherhomji, S., Hansen, C., Kim, H., Mang, Y., Bak, M., Guldberg, P., Papadopoulos, N., Eiberg, Hans Rudolf Lytchoff, Doh, G. D., Møllgård, Kjeld, Hertz, J. M., Nielsen, Jørgen Erik, Ropers, H., Tümer, Asuman Zeynep, Tommerup, Niels, Kalscheuer, V. M. & Silahtaroglu, Asli, 1 Dec 2014, In: Human Molecular Genetics. 23, 23, p. 6163-6176 14 p.

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

  39. Published

    The myosin chaperone UNC45B is involved in lens development and autosomal dominant juvenile cataract

    Hansen, Lars, Comyn, S., Mang, Y., Lind-Thomsen, A., Myhre, L., Jean, F., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels, Rosenberg, T. & Pilgrim, D., Nov 2014, In: European Journal of Human Genetics. 22, 11, p. 1290-1297 8 p.

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

  40. Published

    Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study

    Lund, M., Diaz, L. J., Gørtz, S., Feenstra, B., Duno, M., Juncker, I., Eiberg, Hans Rudolf Lytchoff, Vissing, John, Wohlfahrt, J. & Melbye, M., Sep 2014, In: European journal of neurology : the official journal of the European Federation of Neurological Societies. 21, 9, p. 1192-1197 6 p.

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

  41. Published

    Cardiac involvement in myotonic dystrophy: a nationwide cohort study

    Lund, M., Diaz, L. J., Ranthe, M. F., Petri, H., Duno, M., Juncker, I., Eiberg, Hans Rudolf Lytchoff, Vissing, John, Bundgaard, H., Wohlfahrt, J. & Melbye, M., 21 Aug 2014, In: European Heart Journal. 35, 32, p. 2158-2164 7 p.

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

  42. Published

    High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion among non-diabetic family members of type 2 diabetic patients

    Gjesing, A. M. P., Hornbak, M., Allin, K. H., Ekstrøm, Claus Thorn, Urhammer, Søren Asger, Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye & Hansen, Torben, Jun 2014, In: Diabetologia. 57, 6, p. 1173-1181 9 p.

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

  43. Published

    Identification of novel locus at chromosome 3p12.3-q13.31 for autosomal recessive intellectual disability in a consanguineous family

    Dad, S., Østergaard, Elsebet, Wadt, K., Lunding, J., Eiberg, Hans Rudolf Lytchoff & Møller, L., Apr 2014, In: Clinical Genetics. 85, 4, p. 390-392 3 p.

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

  44. Published

    Polymorphisms in phase I and phase II genes and breast cancer risk and relations to persistent organic pollutant exposure: a case-control study in Inuit women

    Ghisari, M., Eiberg, Hans Rudolf Lytchoff, Long, M. & Bonefeld-Jørgensen, E. C., 16 Mar 2014, In: Environmental Health. 13, 1, p. 1-14 14 p., 19.

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

  45. 2013
  46. Published

    Arvelige faktores betydning for gastroschise

    Bugge, Merete, Nielsen, I. & Eiberg, Hans Rudolf Lytchoff, 7 Sep 2013.

    Research output: Contribution to conference › Conference abstract for conference › Communication

  47. Published

    Syv års screening for CFG og PCCB

    Nielsen, I. & Eiberg, Hans Rudolf Lytchoff, Sep 2013.

    Research output: Contribution to conference › Conference abstract for conference › Communication

  48. Published

    Genetic heterogeneity in Pakistani microcephaly families

    Sajid Hussain, M., Bakhtiar, S. M., Farooq, M., Anjum, I., Janzen, E., Reza Toliat, M., Eiberg, Hans Rudolf Lytchoff, Kjaer, K. W., Tommerup, Niels, Noegel, A. A., Nürnberg, P., Baig, S. M. & Hansen, Lars, May 2013, In: Clinical Genetics. 83, 5, p. 446-51 6 p.

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

  49. Published

    High heritability and genetic correlation of intravenous glucose- and tolbutamide-induced insulin secretion

    Jonsson, Anna Elisabet, Hornbak, M., Gjesing, A. P., Allin, K. H., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Pedersen, O. & Hansen, T., 2013, In: Diabetologia. 56, 1, Supplement, p. S154-S154

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

  50. 2012
  51. Published

    Novel mutation in ATP13A2 widens the spectrum of Kufor-Rakeb syndrome (PARK9)

    Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Korbo, L., Nielsen, I., Svenstrup, K., Bech, S., Pinborg, L., Friberg, L., Hjermind, L., Olsen, O. & Nielsen, Jørgen Erik, Nov 2012, In: Clinical Genetics. 82, 3, p. 256-63 8 p.

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

  52. Published

    ATXN2 with intermediate-length CAG/CAA repeats does not seem to be a risk factor in hereditary spastic paraplegia

    Nielsen, T. T., Svenstrup, K., Budtz-Joergensen, Esben, Eiberg, Hans Rudolf Lytchoff, Hasholt, Lis Frydenreich & Nielsen, Jørgen Erik, Oct 2012, In: Journal of the Neurological Sciences. 321, 1-2, p. 100-2 3 p.

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

  53. Published

    Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%

    Almind, G. J., Ek, J., Rosenberg, T., Eiberg, Hans Rudolf Lytchoff, Larsen, M., Lucamp, L., Brøndum-Nielsen, K. & Grønskov, K., Aug 2012, In: BMC Medical Genetics. 13, p. 65

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

  54. Published

    Genetic studies in congenital anterior midline cervical cleft

    Jakobsen, Linda Plovmand, Pfeiffer, P., Andersen, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Mang, Y., Bak, M., Møller, R. S., Klitten, L. L. & Tommerup, Niels, Aug 2012, In: American Journal of Medical Genetics. Part A. 158A, 8, p. 2021-6 6 p.

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

  55. Published

    GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland

    Homøe, Preben, Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, Hans Rudolf Lytchoff, Nielsen, I. & Tranebjærg, Lisbeth, Jun 2012, In: International Journal of Audiology. 51, 6, p. 433-6 4 p.

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

  56. Published

    Fasting and oral glucose-stimulated levels of glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) are highly familial traits

    Gjesing, A. M. P., Ekstrøm, Claus Thorn, Eiberg, Hans Rudolf Lytchoff, Urhammer, S. A., Holst, Jens Juul, Pedersen, Oluf Borbye & Hansen, Teis Schjals, 2012, In: Diabetologia. 55, 5, p. 1338-1345 8 p.

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

  57. 2011
  58. Published

    The influence of parental history of diabetes and offspring birthweight on offspring glucose metabolism in adulthood

    Lauenborg, J., Jørgensen, M. K., Damm, Peter, Major-Pedersen, A., Eiberg, Hans Rudolf Lytchoff, Urhammer, S., Pedersen, Oluf Borbye & Hansen, Torben, Dec 2011, In: Acta Obstetricia et Gynecologica Scandinavica. 90, 12, p. 1357-1363 7 p.

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

  59. Published

    500K SNP array analyses in blood and saliva showed no differences in a pair of monozygotic twins discordant for cleft lip

    Jakobsen, Linda Plovmand, Bugge, Merete, Ullmann, R., Schjerling, C. K., Borup, R., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff & Tommerup, Niels, 1 Mar 2011, In: American Journal of Medical Genetics. Part A. 155, 3, p. 652-5 4 p.

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

  60. Published

    Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    Rehman, S. U., Baig, S. M., Eiberg, Hans Rudolf Lytchoff, Rehman, S. U., Ahmad, I., Malik, N. A., Tommerup, Niels & Hansen, Lars, 2011, In: Neurogenetics. 12, 3, p. 247-51 5 p.

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

  61. Published

    Differential nongenetic impact of birth weight versus third-trimester growth velocity on glucose metabolism and magnetic resonance imaging abdominal obesity in young healthy twins

    Pilgaard, K., Hammershaimb Mosbech, T., Grunnet, Louise Groth, Eiberg, Hans Rudolf Lytchoff, van Hall, Gerrit, Fallentin, E., Larsen, T. K., Larsen, R., Poulsen, P. & Vaag, A., 2011, In: Journal of Clinical Endocrinology and Metabolism. 96, 9, p. 2835-43 9 p.

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

  62. Published

    RUNX2 analysis of Danish cleidocranial dysplasia families

    Hansen, Lars, Riis, A. K., Silahtaroglu, Asli, Hove, H., Lauridsen, E., Eiberg, Hans Rudolf Lytchoff & Kreiborg, Sven, 2011, In: Clinical Genetics. 79, 3, p. 254-63 10 p.

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

  63. 2010
  64. Published

    Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

    Farooq, M., Troelsen, J. T., Boyd, M., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hussain, M. S., Rehman, S. U., Azhar, A., Ali, A., Bakhtiar, S. M., Tommerup, Niels, Baig, S. M. & Kjaer, K. W., Jun 2010, In: European Journal of Human Genetics. 18, 6, p. 733-6 3 p.

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

  65. Published

    A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

    Anjum, I., Eiberg, Hans Rudolf Lytchoff, Baig, S. M., Tommerup, Niels & Hansen, Lars, Mar 2010, In: Molecular Vision. 16, p. 549-55 6 p.

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

  66. Published

    Human eye colour and HERC2, OCA2 and MATP

    Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 12 Jan 2010, In: Forensic Science International: Genetics. 4, 5, p. 323 - 328 6 p.

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

  67. Published

    Family and population-based studies of variation within the ghrelin receptor locus in relation to measures of obesity

    Gjesing, A. P., Larsen, L. H., Torekov, S. S., Hainerová, I. A., Kapur, R., Johansen, A., Albrechtsen, A., Boj, S., Holst, B., Harper, A., Urhammer, S. A., Borch-Johnsen, K., Pisinger, C. H., Echwald, S. M., Eiberg, H. R. L., Astrup, A., Lebl, J., Ferrer, J., Schwartz, T. W., Hansen, T. & 1 others, Pedersen, Oluf Borbye, 2010, In: P L o S One. 5, 4, 8 p.

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

  68. Published

    Huntington's disease-like and ataxia syndromes: identification of a family with a de novo SCA17/TBP mutation

    Bech, S., Petersen, T., Nørremølle, Anne, Gjedde, Albert, Ehlers, L., Eiberg, Hans Rudolf Lytchoff, Hjermind, L. E., Hasholt, Lis Frydenreich, Lundorf, E. & Nielsen, Jørgen Erik, 2010, In: Parkinsonism & Related Disorders. 16, 1, p. 12-5 3 p.

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

  69. Published

    Prænatal screening for leversygdommen (CFG) og stofskiftesygdommen (PCCB)

    Nielsen, I., Bisgaard, S. M. L. & Eiberg, Hans Rudolf Lytchoff, 2010, In: Nakorsanut. 1, p. 12-17 6 p.

    Research output: Contribution to journal › Journal article › Research

  70. 2009
  71. Published

    A high frequent BRCA1 founder mutation identified in the Greenlandic population

    Harboe, T. L., Eiberg, Hans Rudolf Lytchoff, Kern, P., Ejlertsen, Bent Laursen, Nedergaard, L., Timmermans-Wielenga, V., Nielsen, I. & Bisgaard, M. L., 2009, In: Familial Cancer. 8, 4, p. 413-9 6 p.

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

  72. Published

    Analysis of RUNX2 in a Danish cohort of cleidocranial dysplasia patients revealed two large chromosomal deletions and 14 pathogenic point mutations.

    Hansen, L., Riis, A., Hove, H., Lauridsen, E., Eiberg, Hans Rudolf Lytchoff & Kreiborg, Sven, 2009.

    Research output: Contribution to conference › Conference abstract for conference › Research

  73. Published

    Compound heterozygous ASPM mutations in Pakistani MCPH families

    Muhammad, F., Mahmood Baig, S., Hansen, Lars, Sajid Hussain, M., Anjum Inayat, I., Aslam, M., Anver Qureshi, J., Toilat, M., Kirst, E., Wajid, M., Nürnberg, P., Eiberg, Hans Rudolf Lytchoff, Tommerup, Niels & Kjaer, K. W., 2009, In: American Journal of Medical Genetics. Part A. 149A, 5, p. 926-30 4 p.

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

  74. Published

    Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract

    Hansen, Lars, Mikkelsen, Annemette Friis, Nürnberg, P., Nürnberg, G., Anjum, I., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2009, In: Investigative Ophthalmology & Visual Science. 50, 7, p. 3291-303 12 p.

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

  75. Published

    Polymorphic drug metabolizing CYP-enzymes - a pathogenic factor in oral lichen planus?

    Kragelund, C., Hansen, C., Reibel, Jesper, Nauntofte, B., Brøsen, K., Pedersen, Anne Marie Lynge, Smidt, D., Eiberg, Hans Rudolf Lytchoff & Torpet, L. A., 2009, In: Journal of Oral Pathology & Medicine. 38, 1, p. 63-71 9 p.

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

  76. Published

    Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia

    Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A., Hasholt, L., Nielsen, J. E., Svenstrup, K., Bross, P., Koefoed, P., Hjermind, L. E., Eiberg, H., Born, A. P., Vissing, J., Gyllenborg, J., Nørremølle, A. & 2 others, Hasholt, L. & Nielsen, J. E., 2009, In: Journal of the Neurological Sciences. 284, 1-2, p. 90-5 5 p.

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

  77. Published

    Variants near MC4R associate with obesity and influence obesity-related quantitative traits in a population of middle-aged people: studies of 14,940 Danes

    Zobel, D. P., Andreasen, C. H., Grarup, N., Eiberg, Hans Rudolf Lytchoff, Sørensen, Thorkild I.A., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Pedersen, Oluf Borbye & Hansen, T., 2009, In: Diabetes. p. 757-764 8 p.

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

  78. Published

    Variation in the gene encoding Kruppel-like factor 7 influences body fat: studies of 14,818 Danes

    Zobel, D., Andreasen, C., Burgdorf, K., Andersson, E., Sandbæk, A., Lauritzen, T., Borch-Johnsen, K., Jørgensen, T., Maeda, S., Nakamura, Y., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye & Hansen, Torben, 2009, In: European Journal of Endocrinology. 160, 4, p. 603-9

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

  79. 2008
  80. Published

    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

  81. Published

    A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia

    Medeiros, F. D., Hansen, Lars, Mawlad, E., Eiberg, Hans Rudolf Lytchoff, Asklund, C., Tommerup, Niels & Jakobsen, L. P., 2008, In: American Journal of Medical Genetics. Part A. 146A, 12, p. 1605-1608 3 p.

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

  82. Published

    A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family

    Sanggaard, K. M., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Nurnberg, G., Nurnberg, P., Hoffman, K., Jensen, H., Sorum, C., Rendtorff, N. D. & Tranebjærg, Lisbeth, 2008, In: American Journal of Medical Genetics. Part A. 146A, 8, p. 1017-1025 8 p.

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

  83. Published

    Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1

    Gonsorcíková, L., Pruhová, S., Cinek, O., Ek, J., Pelikánová, T., Jørgensen, T., Eiberg, Hans Rudolf Lytchoff, Pedersen, Oluf Borbye, Hansen, T. & Lebl, J., 2008, In: Pediatric Diabetes. 9, 4 Pt 2, p. 367-72 5 p.

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

  84. Published

    Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.

    Eiberg, Hans Rudolf Lytchoff, Troelsen, J., Boyd, M., Mikkelsen, Annemette Friis, Mengel-From, J., Kjaer, K. W. & Hansen, Lars, 2008, In: Human Genetics. 123, 2, p. 177-87 10 p.

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

  85. Published

    Determination of cis/trans phase of variations in the MC1R gene with allele-specific PCR and single base extension

    Mengel-From, J., Børsting, Claus, Sanchez, J. J., Eiberg, Hans Rudolf Lytchoff & Morling, Niels, 2008, In: Electrophoresis. 29, 23, p. 4780-7 7 p.

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

  86. Published

    Hereditary henotypes in nocturnal enuresis

    Schaumburg, H. L., Kapilin, U., Blasvaer, C., Eiberg, Hans Rudolf Lytchoff, Gontard, A. V., Djurhuus, J. C. & Rittig, S., 2008, In: BJU International. 102, 7, p. 816-821 5 p.

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

  87. Published

    Novel de novo BRCA2 mutation in a patient with a family history of breast cancer.

    Hansen, T. V. O., Bisgaard, M. L., Jønson, L., Albrechtsen, Anders, Filtenborg-Barnkob, B., Eiberg, Hans Rudolf Lytchoff, Ejlertsen, B. & Nielsen, Finn Cilius, 2008, In: BMC Medical Genetics. 9, p. 58

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

  88. 2007
  89. Published

    A novel nonsense mutation in PAX9 is associated with marked variability in number of missing teeth

    Hansen, L., Kreiborg, Sven, Jarlov, H., Niebuhr, E. & Eiberg, Hans Rudolf Lytchoff, 2007, In: European Journal of Oral Sciences. 115, 4, p. 330-333 3 p.

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

  90. Published

    Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses

    Sanggaard, K. M., Rendtorff, N. D., Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Johnsen, T., Gimsing, S., Dyrmose, J., Nielsen, K. O., Lage, K. & Tranebjærg, Lisbeth, 2007, In: European Journal of Human Genetics. 15, 11, p. 1121-1131 10 p.

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

  91. Published

    CHEK2 1100delC is prevalent in Swedish early onset familial breast cancer.

    Margolin, S., Eiberg, Hans Rudolf Lytchoff, Lindblom, A. & Bisgaard, M. L., 2007, In: BMC Cancer. 7, p. 163

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

  92. Published

    Deficiency of mannan-binding lectin associated serine protease-2 due to missense polymorphisms

    Thiel, S., Steffensen, R., Christensen, I. J., Ip, W. K., Lau, Y. L., Reason, I. J. M., Eiberg, Hans Rudolf Lytchoff, Gadjeva, M., Ruseva, M. & Jensenius, J. C., 2007, In: Genes and Immunity. 8, 2, p. 154-163 9 p.

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

  93. Published

    Fra forskning til forebyggelse i Grønland. Grønlandsmedicinsk Selskab

    Nielsen, I. M., Kern, P. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Ugeskrift for læger. 169, 12, p. 1105-

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

  94. Published

    Genetic heterogeneity in microcornea-cataract: Five novel mutations in CRYAA, CRYGD, and GJA

    Hansen, Lars, Yao, W. L., Eiberg, Hans Rudolf Lytchoff, Kjær, K. W., Baggesen, K., Hejtmancik, J. F. & Rosenberg, T., 2007, In: Investigative Ophthalmology & Visual Science. 48, 9, p. 3937-3944 7 p.

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

  95. Published

    LOH at chromosome 9q34.3 and the Notch1 gene methylation are less involved in oral squamous cell carcinomas

    Gao, S., Krogdahl, A., Eiberg, Hans Rudolf Lytchoff, Liu, C. J. & Sørensen, J. A., 2007, In: Journal of Oral Pathology & Medicine. 36, 3, p. 173-176 3 p.

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

  96. Published

    Non-disjunction of chromosome

    Bugge, Merete, Collins, A., Hertz, J. M., Eiberg, Hans Rudolf Lytchoff, Lundsteen, C., Brandt, C. A., Hansen, C., deLozier, C. D., Lespinasse, J., Tranebjærg, Lisbeth, Hahnemann, J. M. D., Rasmussen, K., Bruun-Petersen, G., Duprez, L., Tommerup, Niels & Petersen, M. B., 2007, In: Human Molecular Genetics. 16, 16, p. 2004-2010 6 p.

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

  97. Published

    Novel MAF mutation in a family with congenital cataract-microcornea syndrome

    Hansen, L., Eiberg, Hans Rudolf Lytchoff & Rosenberg, T., 2007, In: Molecular Vision. 13, 223-27, p. 2019-2022 3 p.

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

  98. Published

    Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young

    Ellard, S., Thomas, K., Edghill, E. L., Owens, M., Ambye, L., Cropper, J., Little, J., Strachan, M., Stride, A., Ersoy, B., Pedersen, O., Shepherd, M. H., Hansen, T., Harries, L. W., Hattersley, A. T. & Eiberg, Hans Rudolf Lytchoff, 2007, In: Diabetologia. 50, 11, p. 2313-2317 4 p.

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

  99. Published

    Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential

    Bross, P., Li, Z., Hansen, J., Hansen, J. J., Nielsen, M. N., Corydon, T. J., Georgopoulos, C., Ang, D., Lundemose, J. B., Niezen-Koning, K., Eiberg, Hans Rudolf Lytchoff, Yang, H., Kølvraa, S., Bolund, L. & Gregersen, N., 2007, In: Journal of Human Genetics. 52, 1, p. 56-65 10 p.

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

  100. Published

    Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family

    Jakobsen, L. P., Ullmann, R., Kjær, K. W., Knudsen, M. A., Tommerup, Niels & Eiberg, Hans Rudolf Lytchoff, 2007, In: American Journal of Medical Genetics. Part A. 143A, 22, p. 2716-2721 5 p.

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

  101. Published

    The ADULT-EEC spectrum: An R280C mutation with a borderline phenotype

    Kier-Swiatecka, E., Kock, M., Marker, P., Eiberg, Hans Rudolf Lytchoff & Kjær, K. W., 2007, In: American Journal of Medical Genetics. Part A. 143A, 8, p. 891-894 3 p.

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

  102. Published

    The CHEK2 1100delC variant in Swedish colorectal cancer.

    Djureinovic, T., Lindblom, A., Dalén, J., Dedorson, S., Edler, D., Hjern, F., Holm, J., Lenander, C., Lindforss, U., Lundqvist, N., Olivecrona, H., Olsson, L., Påhlman, L., Rutegård, J., Smedh, K., Törnqvist, A., Eiberg, Hans Rudolf Lytchoff & Bisgaard, M. L., 2007, In: Anticancer Research. 26, 6C, p. 4885-8 3 p.

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

  103. Published

    The functional Pro129Thr variant of the FAAH gene is not associated with various fat accumulation phenotypes in a population-based cohort of 5,801 whites

    Jensen, D. P., Lepola, Mette Andersen, Hansen, L., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben, Pedersen, Oluf Borbye & Andreasen, C. H., 2007, In: Journal of Molecular Medicine. 85, 5, p. 445-9 5 p.

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

  104. 2006
  105. Published

    A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis

    Witt, H., Sahin-Toth, M., Landt, O., Chen, J. M., Kahne, T., Drenth, J. P. H., Kukor, Z., Szepessy, E., Halangk, W., Dahm, S., Rohde, K., Schulz, H. U., Marechal, C. L., Akar, N., Ammann, R. W., Truninger, K., Bargetzi, M., Bhatia, E., Castellani, C., Cavestro, G. M. & 45 others, Cerny, M., Destro-Bisol, G., Spedini, G., Jansen, J. B. M. J., Koudova, M., Rausova, E., Macek, M., Malats, N., Real, F. X., Menzel, H. J., Moral, P., Galavotti, R., Pignatti, P. F., Rickards, O., Spicak, J., Zarnescu, N. O., Bock, W., Gress, T. M., Friess, H., Ockenga, J., Schmidt, H., Pfutzer, R., Lohr, M., Simon, P., Weiss, F. U., Lerch, M. M., Teich, N., Keim, V., Berg, T., Wiedenmann, B., Luck, W., Groneberg, D. A., Becker, M., Keil, T., Kage, A., Bernardova, J., Braun, M., Guldner, C., Halangk, J., Rosendahl, J., Witt, U., Treiber, M., Nickel, R., Ferec, C. & Eiberg, Hans Rudolf Lytchoff, 2006, In: Nature Genetics. 38, 6, p. 668-673 5 p.

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

  106. Published

    A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2

    Kjær, K. W., Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hagen, C. B. V. D., Rosendahl, K., Tommerup, Niels & Mundlos, S., 2006, In: Journal of Medical Genetics. 43, 3, p. 225-231 6 p.

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

  107. Published

    Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene

    Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Kjer, B., Hansen, T., Pedersen, O., Bille, M., Rosenberg, T. & Tranebjaerg, L., 2006, In: Journal of Medical Genetics. 43, 5, p. 435-440 5 p.

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

  108. Published

    Heat-shock protein 70 genes and human longevity: a view from Denmark

    Singh, R., Kolvraa, S., Bross, P., Christensen, K., Gregersen, N., Tan, Q., Jensen, U. B., Eiberg, Hans Rudolf Lytchoff & Rattan, S. I., 2006, In: Annals of the New York Academy of Sciences. 1067, p. 301-308 7 p.

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

  109. Published

    Screening for Y microdeletions in men with testicular cancer and undescended testis

    Bor, P., Hindkjaer, J., Kølvraa, S., Rossen, P., von der Maase, H., Jørgensen, T. M., Sørensen, V. T., Eiberg, Hans Rudolf Lytchoff & Ingerslev, H. J., 2006, In: Journal of Assisted Reproduction and Genetics. 23, 1, p. 41-45 4 p.

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

  110. Published

    The congenital "ant-egg" cataract phenotype is caused by a missense mutation in connexin46

    Hansen, Lars, Yao, W., Eiberg, Hans Rudolf Lytchoff, Funding, M., Riise, R., Kjær, K. W., Hejtmancik, J. F. & Rosenberg, T., 2006, In: Molecular Vision. 12, 116, p. 1033-1039 7 p.

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

  111. Published

    Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: studies in 6018 whites

    Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jørgensen, T., Hansen, Torben & Pedersen, Oluf Borbye, 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-7 8 p.

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

  112. Published

    Variation in CAPN10 in relation to type 2 diabetes, obesity and quantitative metabolic traits: Studies in 6018 whites

    Jensen, D. P., Urhammer, S. A., Eiberg, Hans Rudolf Lytchoff, Borch-Johnsen, K., Jorgensen, T., Hansen, T. & Pedersen, O., 2006, In: Molecular Genetics and Metabolism. 89, 4, p. 360-367 7 p.

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

  113. 2005
  114. Published

    Mapping of Hereditary Trichilemmal Cyst (TRICY1) to Chromosome 3p24-p21.2 and Exclusion of β-CATENIN and MLH1

    Eiberg, Hans Rudolf Lytchoff, Hansen, Lars, Hansen, C., Mohr, J., Teglbjærg, P. S. & Kjaer, K. W., 15 Feb 2005, In: American Journal of Medical Genetics. 133 A, 1, p. 44-47 4 p.

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

  115. Published

    A 72-year-old Danish puzzle resolved--comparative analysis of phenotypes in families with different-sized HOXD13 polyalanine expansions

    Kjær, K. W., Hansen, Lars, Eiberg, Hans Rudolf Lytchoff, Utkus, A., Skovgaard, Lene Theil, Leicht, P., Opitz, J. M. & Tommerup, Niels, 2005, In: American Journal of Medical Genetics. Part A. 138, 4, p. 328-39 12 p.

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

  116. Published

    Cytoplasmic expression of E-cadherin and β-Catenin correlated with LOH and hypermethylation of the APC gene in oral squamous cell carcinomas

    Gao, S., Eiberg, Hans Rudolf Lytchoff, Krogdahl, A., Lui, C. & Sørensen, J. A., 2005, In: J. Oral. Pathol. Med.. Vol. 34, p. 116-119

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

  117. Published

    Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)

    Kjær, K. W., Hansen, L., Schwabe, G. C., Marques-de-Faria, A. P., Eiberg, Hans Rudolf Lytchoff, Mundlos, S., Tommerup, Niels & Rosenberg, T., 2005, In: Journal of Medical Genetics. Vol. 42, p. 292-298

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

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