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Ugeskrift for Laeger|June 14, 2021
[Beckwith-Wiedemann over-growth syndrom]Tina Leunbach, Stense Farholt, Anne Skakkebæk, et al.
European Journal of Medical Genetics|December 31, 2024
Phenotypic variability in a family with an inherited KAT6A frameshift variantSidsel Bjerg Ringsted, Sara Markholt, Lotte Andreasen, et al.
Dermatology Reports|November 12, 2014
Elastosis Perforans Serpiginosa in a patient with Down syndrome treated with imiquimod 5% creamPernille Axél Gregersen, Birgitte Stausbøl-Grøn, Mette Ramsing, et al.
Bone|October 3, 2025
A deep intronic PHEX variant in a large Danish family with hereditary hypophosphatemia and a milder skeletal, but more severe dental phenotypeJenny Blechingberg, Kristian Alsbjerg Skipper, Signe Sparre Beck-Nielsen, et al.
European Journal of Medical Genetics|January 7, 2023
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2Sara Markholt, Lotte Andreasen, Jesper Bjerre, et al.
Psycho-Oncology|February 8, 2025
Psychosocial Interventions to Improve Wellbeing in Teenage and Young Adult Post-Treatment Survivors of Childhood Cancer: A Systematic ReviewNicola O'Donnell, Leila Ellis, Jessica E Morgan, et al.
European Journal of Medical Genetics|January 30, 2022
Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variantTrine Østergaard Nielsen, Morten Krogh Herlin, Karen Markussen Linnet, et al.
JAMA Network Open|March 15, 2024
Congenital Tooth Agenesis and Risk of Early-Onset CancerSaga Elise Eiset, Jeremy Schraw, Gitte Vrelits Sørensen, et al.
European Journal of Medical Genetics|May 29, 2025
Variable expressivity of a transmitted pathogenic KAT6B variantNinna Bager Rasmussen, Pernille Axél Gregersen, Trine Østergaard Nielsen, et al.
Molecular Genetics and Genomics : MGG|December 28, 2025
The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1Marie Lorans, Kristian Alsbjerg Skipper, Trine Østergaard Nielsen, et al.
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