All Stories

  1. Characteristics and prognosis of paediatric normal karyotype acute myeloid leukaemia: A NOPHO‐DBH AML study

    Article • British Journal of Haematology, August 2025, Wiley

    Dr Morten Herlin

  2. Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver‐Reported Co‐Produced Questionnaire

    Article • Brain and Behavior, May 2025, Wiley

    Dr Morten Herlin

  3. Monozygotic triplets with juvenile-onset autoimmunity and 18p microdeletion involving PTPRM

    Article • Frontiers in Genetics, September 2024, Frontiers

    Dr Morten Herlin

  4. Phenotypes, Genetics, and Estimated Prevalence of Focal Dermal Hypoplasia (Goltz Syndrome): A Single‐Center Report

    Article • Pediatric Dermatology, September 2024, Wiley

    Dr Morten Herlin

  5. Experiences of vaginal lengthening treatment and sexual well‐being in women with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome: An interview study

    Article • BJOG An International Journal of Obstetrics & Gynaecology, July 2024, Wiley

    Dr Morten Herlin

  6. 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

    Article • European Journal of Medical Genetics, June 2024, Elsevier

    Dr Morten Herlin

  7. Natural history of adults with KBG syndrome: a physician-reported experience

    Article • Genetics in Medicine, May 2024, Elsevier

    Dr Morten Herlin

  8. Genetics of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: advancements and implications

    Article • Frontiers in Endocrinology, April 2024, Frontiers

    Dr Morten Herlin

  9. Understanding the Diagnostic Odyssey of Women with Mayer-Rokitansky-Küster-Hauser (MRKH) Syndrome in Denmark: A Qualitative Interview Study

    Article • Journal of Pediatric and Adolescent Gynecology, March 2024, Elsevier

    Dr Morten Herlin

  10. Congenital mirror movements are associated with defective polymerisation of RAD51

    Article • Journal of Medical Genetics, June 2023, BMJ

    Dr Morten Herlin

  11. A life course perspective on Mayer-Rokitansky-Küster-Hauser syndrome: women’s experiences and negotiations of living with an underdeveloped uterus and vagina

    Article • Disability and Rehabilitation, March 2023, Taylor & Francis

    Dr Morten Herlin

  12. Compromised PAR1 activation - a cause for bleeding in X-men?

    Article • Thrombosis and Haemostasis, January 2023, Thieme Publishing Group

    Dr Morten Herlin

  13. Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children

    Article • Leukemia, December 2022, Springer Science + Business Media

    Dr Morten Herlin

  14. Description of a novel subtype of acute myeloid leukemia defined by recurrent CBFB insertions

    Article • Blood, September 2022, American Society of Hematology

    Dr Morten Herlin

  15. Novel homozygous CD46 variant with C‐isoform expression affects C3b inactivation in atypical hemolytic uremic syndrome

    Article • European Journal of Immunology, August 2022, Wiley

    Dr Morten Herlin

  16. Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant

    Article • European Journal of Medical Genetics, March 2022, Elsevier

    Dr Morten Herlin

  17. Transcriptomic analysis reveals proinflammatory signatures associated with acute myeloid leukemia progression

    Article • Blood Advances, January 2022, American Society of Hematology

    Dr Morten Herlin

  18. What Is Abnormal in Normal Karyotype Acute Myeloid Leukemia in Children? Analysis of the Mutational Landscape and Prognosis of the TARGET-AML Cohort

    Article • Genes, May 2021, MDPI AG

    Dr Morten Herlin

  19. Genomic characterization of relapsed acute myeloid leukemia reveals novel putative therapeutic targets

    Article • Blood Advances, February 2021, American Society of Hematology

    Dr Morten Herlin

  20. Genomic and Transcriptomic Characterization of Adult and Pediatric Relapsed Acute Myeloid Leukemia Reveals Novel Therapeutic Targets

    Article • Blood, November 2020, American Society of Hematology

    Dr Morten Herlin

  21. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: a comprehensive update

    Article • Orphanet Journal of Rare Diseases, August 2020, Springer Science + Business Media

    Dr Morten Herlin

  22. 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

    Article • Human Reproduction, August 2019, Oxford University Press (OUP)

    Dr Morten Herlin

  23. Treatment of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome in Denmark: a nationwide comparative study of anatomical outcome and complications

    Article • Fertility and Sterility, September 2018, Elsevier

    Dr Morten Herlin

  24. 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

    Article • Journal of Medical Case Reports, December 2016, Springer Science + Business Media

    Dr Morten Herlin

  25. Prevalence and patient characteristics of Mayer–Rokitansky–Küster–Hauser syndrome: a nationwide registry-based study

    Article • Human Reproduction, September 2016, Oxford University Press (OUP)

    Dr Morten Herlin

  26. Accelerometer-assessed daily physical activity in relation to pain cognition in juvenile idiopathic arthritis

    Article • Scandinavian Journal of Rheumatology, June 2016, Taylor & Francis

    Dr Morten Herlin

  27. Familial occurrence of Mayer-Rokitansky-Küster-Hauser syndrome: A case report and review of the literature

    Article • American Journal of Medical Genetics Part A, June 2014, Wiley

    Dr Morten Herlin