Photo of Henrik Okkels
  • Denmark

20052020

Research output per year

If you made any changes in Pure these will be visible here soon.

Research Output

2020
1 Citation (Scopus)

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., Ten Broeke, S. W., Plazzer, J-P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H. & 68 others, Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sánchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rødland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Möslein, G., Mecklin, J-P., Nielsen, M. & Møller, P., Jan 2020, In : Genetics in Medicine. 22, 1, p. 15-25 11 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
35 Citations (Scopus)
17 Downloads (Pure)

Cell-based non-invasive prenatal testing (cbNIPT): an alternative to chorionic villus sampling to confirm diagnosis of unaffected fetuses following preimplantation genetic testing for monogenic disorders (PGT-M)

Toft, C. L. F., Ingerslev, H. J., Kesmodel, U. S., Hatt, L., Singh, R., Ravn, K., Hestbek, B., Christensen, I. B., Koelvraa, M., Jeppesen, L. D., Schelde, P., Vogel, I., Uldbjerg, N., Farlie, R., Sommer, S., Ostergaard, M. L. V., Jensen, A. N., Mogensen, H., Degn, B., Okkels, H. & 2 others, Ernst, A. & Pedersen, I. S., 1 Jul 2020, In : Human Reproduction. 35, suppl. 1, p. 79 1 p., O-182.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database

Dominguez-Valentin, M., Sampson, J. R., Seppälä, T. T., Ten Broeke, S. W., Plazzer, J-P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos Tot Nederveen Cappel, W. H., Sijmons, R. H. & 30 others, Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Köstner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Büttner, R., Görgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Hüneburg, R., Knebel Doeberitz, M. V., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvänäinen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M. & Okkels, H., Sep 2020, In : Genetics in Medicine. 22, 9, 1 p.

Research output: Contribution to journalComment/debateResearchpeer-review

Open Access

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients

Djursby, M., Madsen, M. B., Frederiksen, J. H., Berchtold, L. A., Therkildsen, C., Willemoe, G. L., Hasselby, J. P., Wikman, F., Okkels, H., Skytte, A. B., Nilbert, M., Wadt, K., Gerdes, A. M. & van Overeem Hansen, T., 24 Sep 2020, In : Frontiers in Genetics. 11, 16 p., 566266.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
2019

Detection of PMS2 mutations by screening hereditary nonpolyposis colon cancer families from Denmark and Sweden

Okkels, H., Lagerstedt-Robinsson, K., Wikman, F. P., Hansen, T. V. O., Lolas, I., Lindberg, L. J. & Krarup, H. B., 1 Sep 2019, In : Genetic Testing and Molecular Biomarkers. 23, 9, p. 688-695 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

1 Citation (Scopus)

Early experiences with screening for aneuploidy in preimplantation genetic testing for inherited disorders

Diemer, T., Toft, C. L. F., Hnida, C., Degn, B., Okkels, H., Ernst, A., Ingerslev, H. J. & Pedersen, I. S., 1 Oct 2019, In : European Journal of Human Genetics. 27, Suppl. 2, p. 1198-1199 2 p., P01.57A.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

First reported Northern European with CABP2-related non-syndromic hearing loss

Hojland, A. T., Okkels, H. & Petersen, M. B., 2019, In : European Journal of Human Genetics. 27, Suppl. 2, p. 1225 1 p., P02.22D.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Open Access

Identification of a Novel Silent Exonic Point Mutation in the NF1 Gene Causing Partial Exon 9 Skipping

Hoejland, A. T., Lolas, I., Diemer, T., Okkels, H. & Petersen, M. B., 1 Jul 2019, In : European Journal of Human Genetics. 27, Suppl. 1, p. 291-292 2 p.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

3 Citations (Scopus)
6 Citations (Scopus)
2018

First reported adult patient with TARP syndrome: A case report

Højland, A. T., Lolas, I., Okkels, H., Lautrup, C. K., Diness, B. R., Petersen, M. B. & Nielsen, I. K., Dec 2018, In : American Journal of Medical Genetics. Part A. 176, 12, p. 2915-2918 4 p.

Research output: Contribution to journalJournal articleResearchpeer-review

Open Access
File
1 Citation (Scopus)
188 Downloads (Pure)
2016

A novel deletion mutation in the ALOX12B gene in a Kurdish family with autosomal recessive congenital ichthyosis

Lolas, I. B., Sommerlund, M., Okkels, H., Ramsing, M. & Petersen, M. B., 2016, In : European Academy of Dermatology and Venereology. Journal. 30, 11, p. e144-e145 2 p.

Research output: Contribution to journalComment/debateResearchpeer-review

2013

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

Petersen, S. M., Dandanell, M., Rasmussen, L. J., Gerdes, A-M. A., Krogh, L. N., Bernstein, I., Okkels, H., Wikman, F., Nielsen, F. C. & Hansen, T. V. O., 2013, In : B M C Medical Genetics. 14, p. 103 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

16 Citations (Scopus)

Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing

Herlin, M., Jonstrup, S. P., Højland, A. T., Pedersen, I. S., Madsen, P. H., Ernst, A., Okkels, H., Le, V., Krarup, H. & Petersen, M. B., Oct 2013. 1 p.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

Investigations on the Molecular Genetic Etiology of Mayer-Rokitansky-Kuster-Hauser Syndrome in two Cousins using Exome Sequencing.

Herlin, M., Jonstrup, S. P., Højland, A. T., Pedersen, I. S., Madsen, P. H., Ernst, A., Okkels, H., Le, V., Krarup, H. & Petersen, M. B., Oct 2013. 1 p.

Research output: Contribution to conference without publisher/journalPosterResearch

Mother-to-offspring inheritance of MLH1 promotor hypermethylation

Højland, A. T., Okkels, H., Madsen, P. H., Jensen, T. D. & Petersen, M. B., Jun 2013, In : European Journal of Human Genetics. 21, s2, p. 309

Research output: Contribution to journalConference abstract in journalResearchpeer-review

Mother-to-offspring Inheritance of MLH1 Promotor Hypermethylation

Højland, A. T., Okkels, H., Madsen, P. H., Jensen, T. D. & Petersen, M. B., 8 Jun 2013.

Research output: Contribution to conference without publisher/journalPosterResearchpeer-review

Surgeons' query of family history are still crucial after implementation of MMR-screening with IHC in all CRC-patients

Lindberg, L. J., Holck, S., Okkels, H. & Bernstein, I., 2013, In : Familial Cancer. 12, 2 Suppl.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

The utility of P16 in identifying Lynch Syndrome (LS)

Agander, T., Lindberg, L., Brixen, L., Okkels, H., Haska, M., Bernstein, I. & Holck, S., Mar 2013, In : APMIS - Journal of Pathology, Microbiology and Immunology. 121, Supl.135, p. 22 1 p., P2-3.

Research output: Contribution to journalConference abstract in journalResearchpeer-review

13 Citations (Scopus)
2012

Implementering af næste generations sekventering (NGS) i cancerdiagnostikken

Pedersen, I. S., Ernst, A., Okkels, H., Madsen, P. H. & Krarup, H. B., 19 Apr 2012.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearch

Implementering af næste generations sekventering (NGS) i diagnostikken

Pedersen, I. S., Ernst, A., Okkels, H., Madsen, P. H., Le, V. Q. & Krarup, H. B., 19 Apr 2012.

Research output: Contribution to conference without publisher/journalPosterResearch

Implementering af næste generations sekventering (NGS) i virusdiagnostikken

Ernst, A., Madsen, P. H., Pedersen, I. S., Okkels, H., Le, V. Q. & Krarup, H. B., 19 Apr 2012.

Research output: Contribution to conference without publisher/journalPosterResearch

MSH6 Mutations are Frequent in Hereditary Nonpolyposis Colorectal Cancer Families With Normal pMSH6 Expression as Detected by Immunohistochemistry

Okkels, H., Larsen, K. L., Thorlacius-Ussing, O., Vyberg, M., Lindebjerg, J., Sunde, L., Bernstein, I. T., Klarskov, L. L., Holck, S. & Krarup, H. B., 2012, In : Applied Immunohistochemistry & Molecular Morphology. 20, p. 470-7 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

15 Citations (Scopus)
2011

Biomedical informatics as support to individual healthcare in hereditary colon cancer: the Danish HNPCC system

Bernstein, I. T., Larsen, K. L., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A-M. A., Iversen, L. H., Madsen, M. R., Okkels, H., Sunde, L., Rahr, H. B., Wikman, F. P. & Rossing, N., 2011, In : Human Mutation. 32, p. 551-6 6 p.

Research output: Contribution to journalJournal articleResearchpeer-review

9 Citations (Scopus)

Challenges in the Identification of MSH6-Associated Colorectal Cancer: Rectal Location, Less Typical Histology, and a Subset With Retained Mismatch Repair Function

Klarskov, L. L., Holck, S., Bernstein, I. T., Okkels, H., Rambech, E., Baldetorp, B. & Nilbert, M., 1 Sep 2011, In : American Journal of Surgical Pathology. 35, p. 1391-9 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

20 Citations (Scopus)
5 Citations (Scopus)

Diskrepans mellem immunhistokemisk ekspression af mismatch repair proteiner i colorectale carcinomer og gentest

Lindberg, L. J., Holck, S., Okkels, H. & Bernstein, I., 2011.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

Diskrepans mellem immunhistokemisk ekspression af mismatch repair proteiner i colorectale carcinomer og gentest

Lindberg, L. J., Holck, S., Okkels, H. & Bernstein, I., 2011.

Research output: Contribution to conference without publisher/journalPosterResearchpeer-review

Genetic variants in microsomal epoxide hydrolase and N-acetyltransferase 2 in susceptibility of IBD in the Danish population

Ernst, A., Andersen, V., Østergaard, M., Jacobsen, B. A., Pedersen, I. S., Drewes, A. M., Okkels, H. & Krarup, H. B., 2011.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearch

Kan IHC erstatte familieanamnese ved colorectal cancer?

Lindberg, L. J., Holck, S., Okkels, H. & Bernstein, I. T., 2011.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

2010

Electronic exchange of clinical data in hereditary diseases using Hereditary Non Polyposis Colon Cancer (HNPCC) as a model

Bernstein, I. T., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A-M., Iversen, L. H., Larsen, K. L., Madsen, MR., Okkels, H., Sunde, L., Rahr, H., Wikman, F. & Rossing, N., 2010.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearch

Genetic variants of glutathione S-transferases mu, theta, and pi display no susceptibility to inflammatory bowel disease in the Danish population

Ernst, A., Andersen, V., Østergaard, M., Jacobsen, B. A., Dagiliene, E., Pedersen, I. S., Drewes, A. M., Okkels, H. & Krarup, H. B., 2010, In : Scandinavian Journal of Gastroenterology. 45, p. 1068-75 8 p.

Research output: Contribution to journalJournal articleResearchpeer-review

10 Citations (Scopus)
2009

Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients

Christensen, L. L., Kariola, R., Korhonen, M. K., Wikman, F. P., Sunde, L., Gerdes, A-M. A., Okkels, H., Brandt, C., Bernstein, I. T., Hansen, T. V. O., Hagemann-Madsen, R., Andersen, C. L., Nyström, M. & Ørntoft, T. F., 1 Jan 2009, In : Familial Cancer. 8, p. 489-500 12 p.

Research output: Contribution to journalJournal articleResearchpeer-review

8 Citations (Scopus)

Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population

Nilbert, M., Wikman, F. P., Hansen, T. V. O., Krarup, H. B., Örntoft, T. F., Nielsen, F. C., Sunde, L., Gerdes, A-M., Cruger, D., Timshel, S., Bisgaard, M-L., Bernstein, I. & Okkels, H., 2009, In : Familial Cancer. 8, p. 75-83 9 p.

Research output: Contribution to journalJournal articleResearchpeer-review

28 Citations (Scopus)
2008

Benign course of long-standing hepatitis B virus infection among Greenland Inuit?

Krarup, H. B., Andersen, S., Madsen, P. H., Okkels, H., Hvingel, B. H. & Laurberg, P., 2008, In : Scandinavian Journal of Gastroenterology. 43, 3, p. 334-343 10 p.

Research output: Contribution to journalJournal articleResearchpeer-review

34 Citations (Scopus)

Elektronisk dataudveksling omkring patienter med arvelig kolorektal cancer (KRC)

Bernstein, I. T., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A-M., Iversen, L. H., Larsen, K. L., Madsen, MR., Okkels, H., Sunde, L., Rahr, H., Wikman, F. & Rossing, N., 2008.

Research output: Contribution to conference without publisher/journalPosterResearch

In vitro functional analysis of missense mutations in hMLH1 and hMSH2 identified in Danish patients with colorectal cancer

Christensen, L. L., Kariola, R., Wikman, F., Sunde, L., Gerdes, A. M., Okkels, H., Brandt, C. A. & Bisgaard, M. L., 2008, In : European Journal of Cancer. p. 98 1 p.

Research output: Contribution to journalConference abstract in journalResearch

System development, implementation and experiences from a pilot study dealing with electronic exchange of data on phenotype - genotype in families with hereditary colon cancer

Bernstein, I. T., Timshel, S., Brandt, C., Dinesen, B., Fenger, M., Gerdes, A-M., Iversen, L. H., Larsen, K. L., Madsen, MR., Okkels, H., Sunde, L., Wikman, F. & Rossing, N., 2008.

Research output: Contribution to conference without publisher/journalPosterResearch

2007

Mutations in CARD15 and smoking confer susceptibility to Crohn`s disease in the Danish population

Ernst, A., Jacobsen, B. A., Østergaard, M., Okkels, H., Andersen, V., Dagiliene, E., Pedersen, I. S., Thorsgaard, N., Drewes, A. M. & Krarup, H. B., 2007, In : Scandinavian Journal of Gastroenterology. 42, p. 1445-1451 7 p.

Research output: Contribution to journalJournal articleResearchpeer-review

26 Citations (Scopus)
2006
5 Citations (Scopus)

Geographical clustering and maintained health in individuals harbouring the mutation for Greenland Familial Cholestasis: a population based study

Andersen, S., Okkels, H., Krarup, H. & Laurberg, P., 2006.

Research output: Contribution to conference without publisher/journalConference abstract for conferenceResearchpeer-review

2005

Neurofibromatosis von Recklinghausen Type I Phenotype and Early Onset of Cancers in Siblings Compound Heterozygous for Mutations in MSH6

Østergaard, J. R., Sunde, L. & Okkels, H., 2005, In : American Journal of Medical Genetics. Part A. 139A, p. 96-105

Research output: Contribution to journalJournal articleResearchpeer-review

60 Citations (Scopus)