Tina D. Hjortshoj
Copenhagen, Denmark
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 35 publications
Novel MYL1 Intron Variant With Expanded Phenotype.
Journal: American journal of medical genetics. Part A
Published: October 18, 2025
DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals.
Journal: European journal of human genetics : EJHG
Published: September 19, 2025
Non-restrictive cerebral venous dysgenesis in an 11-year-old girl: a case report.
Journal: Pediatric radiology
Published: September 02, 2025
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorder.
Journal: The Journal of clinical investigation
Published: July 23, 2025
Diagnostic yield of whole exome sequencing in a cohort of 825 patients.
Journal: European journal of medical genetics
Published: April 30, 2025
Childhood Cancer Predisposition and Evolutionary Constraints: Novel Lessons from Germline Genomes from 1,127 Children with Cancer.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: January 18, 2025
Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.
Journal: Prenatal diagnosis
Published: October 28, 2024
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder.
Journal: American journal of human genetics
Published: July 19, 2024
Quadruplet pregnancy outcome with and without fetal reduction: Danish national cohort study (2008-2018) and comparison with dichorionic twins.
Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
Published: May 11, 2023
DNA methylation signature classification of rare disorders using publicly available methylation data.
Journal: Clinical genetics
Published: December 07, 2022
Risks and pregnancy outcome after fetal reduction in dichorionic twin pregnancies: a Danish national retrospective cohort study.
Journal: American journal of obstetrics and gynecology
Published: June 28, 2022
Last Updated: 09/26/2026