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Ophthalmic Genetics|January 10, 2024
Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of femalesSekita Dalsgård Petersen, Mohamed Belmouhand, Jens Michael Hertz, et al.
Nature Communications|August 23, 2025
Deep genome sequencing reveals extensive genetic heterogeneity in early human placentasIeva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, et al.
Acta Obstetricia Et Gynecologica Scandinavica|October 28, 2008
Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotypeCharlotte Kvist Lautrup, Susanne Kjaergaard, Karen Brøndum-Nielsen, et al.
American Journal of Medical Genetics. Part A|October 12, 2024
Reclassification of an FBN1 variant emphasizes the importance of segregation analysis, information sharing, and multidisciplinary teamwork in understanding genetic variants in health and diseaseDorte L Lildballe, Sara Markholt, Christina Daugaard Lyngholm, et al.
Ugeskrift for Laeger|October 9, 2014
[Array-comparative genomic hybridization is a new and promising method for prenatal chromosomal diagnosis]Lone Nikoline Nørgaard, Charlotte Ekelund, Christina Fagerberg, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literatureMaria Rasmussen, Else Marie Vestergaard, Jesper Graakjaer, et al.
American Journal of Medical Genetics. Part A|May 14, 2014
Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletionFrancesca Novara, Franco Stanzial, Elena Rossi, et al.
Leukemia & Lymphoma|October 23, 2023
Severe lympho-depletion, abrogated thymopoiesis and systemic EBV positive T-cell lymphoma of childhood, a caseAnders Asmussen, Leticia Quintanilla-Martinez, Martin Larsen, et al.
Immunity, Inflammation and Disease|December 30, 2025
Functional Characterization of an IL2RG Variant, a Case Report of X-Linked T- B + NK + SCIDKristian Assing, Emil Birch Christensen, Christoffer Dellgren, et al.
Prenatal Diagnosis|June 25, 2023
Comprehensive prenatal diagnostics: Exome versus genome sequencingIeva Miceikaite, Christina Fagerberg, Charlotte Brasch-Andersen, et al.
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