Trine E. Prescott
Skien, Norway
Last Updated: 09/26/2026
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Found 39 publications
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.
Journal: Nature communications
Published: December 18, 2024
A monoallelic UXS1 variant associated with short-limbed short stature.
Journal: Molecular genetics & genomic medicine
Published: January 19, 2024
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Journal: American journal of human genetics
Published: May 25, 2023
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Journal: Journal of medical genetics
Published: March 12, 2023
Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites.
Journal: Science advances
Published: February 17, 2023
Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Journal: American journal of medical genetics. Part A
Published: March 24, 2022
Prophylactic Allogeneic Hematopoietic Stem Cell Therapy for CSF1R-Related Leukoencephalopathy.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: February 02, 2022
Biallelic ANGPT2 loss-of-function causes severe early-onset non-immune hydrops fetalis.
Journal: Journal of medical genetics
Published: September 02, 2021
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin.
Journal: American journal of medical genetics. Part A
Published: June 19, 2021
KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.
Journal: Human molecular genetics
Published: February 26, 2021
Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome.
Journal: American journal of medical genetics. Part A
Published: February 03, 2021
Last Updated: 09/26/2026