Margareta Nordling
Linkoeping, E 58183, Sweden
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 16 publications
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Journal: medRxiv : the preprint server for health sciences
Published: May 15, 2024
A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.
Journal: Genome research
Published: April 25, 2024
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Journal: American journal of human genetics
Published: April 14, 2024
Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors-a nationwide, prospective Swedish study.
Journal: The Lancet regional health. Europe
Published: November 20, 2023
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2023
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Journal: Genes, chromosomes & cancer
Published: February 03, 2022
Identification of known and novel familial cancer genes in Swedish colorectal cancer families.
Journal: International journal of cancer
Published: November 22, 2020
Response to Yang et al.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 16, 2019
Update on genetic predisposition to colorectal cancer and polyposis.
Journal: Molecular aspects of medicine
Published: January 14, 2019
Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 28, 2018
Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.
Journal: Familial cancer
Published: October 04, 2016
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.
Journal: Oncology reports
Published: April 15, 2016
Last Updated: 09/26/2026