Research output per year
Research output per year
Research output
- 35 results
Search results
-
2025
Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire
Low, K. J., Walker, M., Treneman-Evans, G., Bramswig, N. C., Herlin, M. K., Lesca, G., Scarano, E., Ockeloen, C. W. & Bayat, A., May 2025, In: Brain and Behavior. 15, 5, p. e70553 e70553.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access -
2024
A life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women's experiences and negotiations of living with an underdeveloped uterus and vagina
Jensen, A. H., Herlin, M. K., Vogel, I. & Lou, S., Mar 2024, In: Disability and Rehabilitation. 46, 6, p. 1130-1140 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
4 Citations (Scopus) -
Clinical presentation and genetics of tricho-rhino-phalangeal syndrome (TRPS) type 1: A single-center case series of 15 patients and seven novel TRPS1 variants
Herlin, L. K., Herlin, M. K., Blechingberg, J., Rønholt, K., Graversen, L., Schmidt, S. A. J., Jørgensen, M. W., Hellfritzsch, M. B., Hald, J. D., Beck-Nielsen, S. S., Gjørup, H., Andersen, B. N., Gregersen, P. A. & Sommerlund, M., Jun 2024, In: European Journal of Medical Genetics. 69, 8 p., 104937.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Experiences of vaginal lengthening treatment and sexual well-being in women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: An interview study
Jensen, A. H., Herlin, M. K., Trolle, B., Vogel, I. & Lou, S., Dec 2024, In: BJOG: An International Journal of Obstetrics and Gynaecology. 131, 13, p. 1841-1850 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications
Herlin, M. K., Apr 2024, In: Frontiers in Endocrinology. 15, p. 1368990 1368990.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open Access6 Citations (Scopus) -
Klinisk anvendelse af polygene risikoscorer
Terkelsen, T., Hansen, T. F., Herlin, M. K., Djursby, M., Nyegaard, M., Pedersen, I. S., Lildballe, D. L., Færgeman, S. L., Sunde, L. & Hauberg, M. E., 2024, In: Ugeskrift for Læger. 186, 4, p. 317-320 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM
Herlin, M. K., Bernth Jensen, J. M., Andreasen, L., Petersen, M. S., Lønskov, J., Thorup, M. B., Birkebæk, N., Mogensen, T. H., Herlin, T. & Deleuran, B., 2024, In: Frontiers in Genetics. 15, 1437566.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Natural history of adults with KBG syndrome: a physician-reported experience
Bayat, A., Grimes, H., de Boer, E., Herlin, M. K., Dahl, R. S., Lund, I. C. B., Bayat, M., Skjelmose Bolund, A. C., Gjerulfsen, C. E., Gregersen, P. A., Zilmer, M., Juhl, S., Cebula, K., Rahikkala, E., Maystadt, I., Peron, A., Vignoli, A., Alfano, R. M., Stanzial, F. & Benedicenti, F. & 15 others, , Aug 2024, In: Genetics in Medicine. 26, 8, 13 p., 101170.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
3 Citations (Scopus) -
Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single-Center Report
Herlin, L. K., Herlin, M. K., Vinter, H., Blechingberg, J., Andersen, B. N., Kruse, C. & Sommerlund, M., 1 Nov 2024, In: Pediatric Dermatology. 41, 6, p. 1106-1113 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access1 Citation (Scopus) -
Understanding the diagnostic odyssey of women with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in Denmark: a qualitative interview study
Lou, S., Jensen, A. H., Vogel, I., Trolle, B. & Herlin, M. K., Aug 2024, In: Journal of Pediatric and Adolescent Gynecology. 37, 4, p. 412-418 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access6 Citations (Scopus) -
2023
Compromised PAR1 Activation-A Cause for Bleeding in XMEN?
Nielsen, C., Nilsson, C., Assing, K., Herlin, M. K., Skakkebæk, A., Larsen, M., Rathe, M., Beck, H. C. & Vinholt, P. J., Jun 2023, In: Thrombosis and Haemostasis. 123, 6, p. 641-644 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
1 Citation (Scopus) -
Congenital mirror movements are associated with defective polymerisation of RAD51
Trouillard, O., Dupaigne, P., Dunoyer, M., Doulazmi, M., Herlin, M. K., Frismand, S., Riou, A., Legros, V., Chevreux, G., Veaute, X., Busso, D., Fouquet, C., Saint-Martin, C., Méneret, A., Trembleau, A., Dusart, I., Dubacq, C. & Roze, E., 1 Nov 2023, In: Journal of Medical Genetics. 60, 11, p. 1116-1126 11 p., jmg-2023-109189.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
1 Citation (Scopus) -
Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions
Ryland, G., Umeda, M., Holmfeldt, L., Lehmann, S., Herlin, M. K., Ma, J. J., Khanlari, M., Rubnitz, J. E., Ries, R. E., Kosasih, H. J., Ekert, P. G., Goh, H. N., Tiong, I. S., Grimmond, S. M., Haferlach, C., Day, R. B., Ley, T. J., Meshinchi, S., Ma, X. & Blombery, P. & 1 others, , Feb 2023, In: Blood. 141, 7, p. 800-805 6 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Comment/debate/letter to the editor › Research › peer-review
2 Citations (Scopus) -
Klinisk anvendelse af polygene risikoscorer
Translated title of the contribution :The clinical use of polygenic risk scores Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Review › Research › peer-review
Open AccessFile10 Downloads (Pure) -
Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children
Stratmann, S., Vesterlund, M., Umer, H. M., Eshtad, S., Skaftason, A., Herlin, M. K., Sundström, C., Eriksson, A., Höglund, M., Palle, J., Abrahamsson, J., Jahnukainen, K., Munthe-Kaas, M. C., Zeller, B., Tamm, K. P., Lindskog, C., Cavelier, L., Lehtiö, J. & Holmfeldt, L., Mar 2023, In: Leukemia. 37, 3, p. 550–559 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile18 Citations (Scopus)3 Downloads (Pure) -
2022
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant
Nielsen, T., Herlin, M. K., Linnet, K. M., Beniczky, S., Sommerlund, M., Granild-Jensen, J. B. & Gregersen, P. A., Mar 2022, In: European Journal of Medical Genetics. 65, 3, 5 p., 104444.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile5 Citations (Scopus)37 Downloads (Pure) -
Molecular genetics in pediatric acute myeloid leukemia without recurrent cytogenetic aberrations
Herlin, M. K., Aug 2022, Århus Universitet.Research output: Types of Thesis › PhD thesis
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Novel homozygous CD46 variant with C-isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome
Schack, V. R., Herlin, M. K., Pedersen, H., Jensen, J. M. B., Faerch, M., Bundgaard, B., Jensen, R. K., Jensen, U. B., Christensen, R., Andersen, G. R., Thiel, S. & Höllsberg, P., Oct 2022, In: European Journal of Immunology. 52, 10, p. 1610-1619 10 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile1 Citation (Scopus)63 Downloads (Pure) -
Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression
Stratmann, S., Yones, S. A., Garbulowski, M., Sun, J., Skaftason, A., Mayrhofer, M., Norgren, N., Herlin, M. K., Sundström, C., Eriksson, A., Höglund, M., Palle, J., Abrahamson, J., Jahnukainen, K., Munthe-Kaas, M. C., Zeller, B., Tamm, K. P., Cavalier, L., Komorowski, J. & Holmfeldt, L., Jan 2022, In: Blood Advances. 6, 1, p. 152-164 13 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile22 Citations (Scopus)25 Downloads (Pure) -
2021
Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets
Stratmann, S., Yones, S. A., Mayrhofer, M., Norgren, N., Skaftason, A., Sun, J., Smolinska, K., Komorowski, J., Herlin, M. K., Sundström, C., Höglund, M., Palle, J., Abrahamsson, J., Jahnukainen, K., Munthe-Kaas, M. C., Zeller, B., Tamm, K. P., Cavelier, L. & Holmfeldt, L., Feb 2021, In: Blood Advances. 5, 3, p. 900-912 13 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access41 Citations (Scopus) -
What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? Analysis of the Mutational Landscape and Prognosis of the TARGET-AML Cohort
Herlin, M. K., Yones, S. A., Kjeldsen, E., Holmfeldt, L. & Hasle, H., Jun 2021, In: Genes. 12, 6, 15 p., 792.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access10 Citations (Scopus) -
2020
Genomic and Transcriptomic Characterization of Adult and Pediatric Relapsed Acute Myeloid Leukemia Reveals Novel Therapeutic Targets
Stratmann, S., Yones, S. A., Sun, J., Skaftason, A., Mayrhofer, M., Norgren, N., Herlin, M. K., Eriksson, A., Hoglund, M., Palle, J., Jahnukainen, K., Pokrovskaja, K., Cavalier, L. & Holmfeldt, L., Nov 2020, In: Blood. 136, Supplement 1, p. 37-38Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Conference abstract in journal › Research › peer-review
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Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update
Herlin, M. K., Petersen, M. B. & Brännström, M., 20 Aug 2020, In: Orphanet Journal of Rare Diseases. 15, 1, 16 p., 214.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open AccessFile171 Citations (Scopus)123 Downloads (Pure) -
2019
Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Müllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome. A case report
Herlin, M. K., Le, V. Q., Højland, A. T., Ernst, A., Okkels, H., Petersen, A. C., Petersen, M. B. & Pedersen, I. S., Sept 2019, In: Human reproduction (Oxford, England). 34, 9, p. 1838-1846 9 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
42 Citations (Scopus) -
2018
Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications
Herlin, M., Bay Bjørn, A. M., Jørgensen, L. K., Trolle, B. & Petersen, M. B., 1 Sept 2018, In: Fertility and Sterility. 110, 4, p. 746-753 8 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
38 Citations (Scopus) -
2017
Accelerometer-assessed daily physical activity in relation to pain cognition in juvenile idiopathic arthritis
Nørgaard, M., Lomholt, J. J., Thastum, M., Herlin, M., Twilt, M. & Herlin, T., 2017, In: Scandinavian Journal of Rheumatology. 46, 1, p. 22-26 5 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
14 Citations (Scopus) -
Mayer-Rokitansky-Küster-Hauser syndrom
Herlin, M. & Petersen, M. B., 1 Jun 2017, In: Ugeskrift for Læger. 12/2017, 12, p. 1067-1070 4 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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2016
Prevalence and patient characteristics of Mayer-Rokitansky-Küster-Hauser syndrome: a nationwide registry-based study
Herlin, M., Bjørn, A.-M. B., Rasmussen, M., Trolle, G. B. & Petersen, M. B., Oct 2016, In: Human reproduction (Oxford, England). 31, 10, p. 2384-2390 7 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
117 Citations (Scopus) -
Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect association with Mayer-Rokitansky-Küster-Hauser syndrome in co-occurrence: two case reports and a review of the literature
Bjørsum-Meyer, T., Herlin, M., Qvist, N. & Petersen, M. B., 21 Dec 2016, In: Journal of Medical Case Reports. 10, 1, p. 1-10 10 p., 10:374 .Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
Open Access23 Citations (Scopus) -
2015
Accelerometer-Assessed Daily Physical Activity in Relation to Pain Cognitions and Quality of Life in Juvenile Idiopathic Arthritis.
Nørgaard, M., Lomholt, J. J., Thastum, M., Herlin, M., Twilt, M. & Herlin, T., 2015, In: Arthritis & Rheumatology. 67, 10, p. 2444Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Conference abstract in journal › Research › peer-review
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Pontine Tegmental Cap Dysplasia: A rare hindbrain malformation and the search of the genetic etiology
Herlin, M., Varvagiannis, K., Gammelgaard, L., Gregersen, P. A., Makrythanasis, P., Antonarakis, S. E. & Petersen, M. B., 6 Oct 2015.Research output: Contribution to conference › Conference abstract for conference › Research › peer-review
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Role of pain, pain coping and health beliefs in decreased accelerometer-assessed daily activity in juvenile idiopathic arthritis.
Nørgaard, M., Lomholt, J. J., Thastum, M., Herlin, M., Twilt, M. & Herlin, T., 2015, In: Annals of the Rheumatic Diseases. 74, 2, p. 621Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Conference abstract in journal › Research › peer-review
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2014
Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature
Herlin, M., Højland, A. T. & Petersen, M. B., 2014, In: American Journal of Medical Genetics - Part A. 164, 9, p. 2276-2286 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
66 Citations (Scopus) -
Update on genetic susceptibility and pathogenesis in juvenile idiopathic arthritis.
Herlin, M., Petersen, M. B. & Herlin, T., 25 Jul 2014, In: European Medical Journal. Rheumatology, 1, p. 73-83 11 p.Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review
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2013
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. Q., Krarup, H. & Petersen, M. B., 24 Oct 2013.Research output: Contribution to conference › Conference abstract for conference › Research › peer-review