Pernille A. Gregersen

Palle Juul Jensens Boulevard 99
Aarhus N, 8200, Denmark

Last Updated: 09/26/2026

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Found 52 publications

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

Journal: American journal of medical genetics. Part A

Published: January 02, 2026

At the epicentre: a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatment.

At the epicentre: a qualitative study of how parents of a child with de novo retinoblastoma experience the diagnostic process and primary treatment.

Journal: BMJ open

Published: November 17, 2025

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Multimodal genotype-phenotype analysis in SMARCB1-associated developmental disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 22, 2025

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Multimodal Genotype-Phenotype Analysis in SMARCB1-Associated Developmental Disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 22, 2025

A deep intronic PHEX variant in a large Danish family with hereditary hypophosphatemia and a milder skeletal, but more severe dental phenotype.

A deep intronic PHEX variant in a large Danish family with hereditary hypophosphatemia and a milder skeletal, but more severe dental phenotype.

Journal: Bone

Published: June 25, 2025

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

The first case of Branchio-oto-renal (BOR) syndrome caused by a deep intronic variant in EYA1.

Journal: Molecular genetics and genomics : MGG

Published: June 02, 2025

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines.

Journal: European journal of human genetics : EJHG

Published: February 05, 2025

Psychosocial Interventions to Improve Wellbeing in Teenage and Young Adult Post-Treatment Survivors of Childhood Cancer: A Systematic Review.

Psychosocial Interventions to Improve Wellbeing in Teenage and Young Adult Post-Treatment Survivors of Childhood Cancer: A Systematic Review.

Journal: Psycho-oncology

Published: September 09, 2024

Phenotypic variability in a family with an inherited KAT6A frameshift variant.

Phenotypic variability in a family with an inherited KAT6A frameshift variant.

Journal: European journal of medical genetics

Published: September 05, 2024

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Compound heterozygosity for two variants in BMP5 in human skeletal dysostosis with atrioventricular septal defect.

Journal: Clinical genetics

Published: June 27, 2024

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

Journal: European journal of medical genetics

Published: May 28, 2024

Congenital Tooth Agenesis and Risk of Early-Onset Cancer.

Congenital Tooth Agenesis and Risk of Early-Onset Cancer.

Journal: JAMA network open

Published: March 15, 2024

Showing 1-12 of 52

Last Updated: 09/26/2026