Search details
1.
Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.
Br J Cancer
; 128(12): 2283-2294, 2023 06.
Article
in English
| MEDLINE | ID: mdl-37076566
2.
Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.
J Hum Genet
; 68(10): 721-724, 2023 Oct.
Article
in English
| MEDLINE | ID: mdl-37336910
3.
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clin Genet
; 104(1): 81-89, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37017260
4.
BRCA1 and BRCA2 5' noncoding region variants identified in breast cancer patients alter promoter activity and protein binding.
Hum Mutat
; 39(12): 2025-2039, 2018 12.
Article
in English
| MEDLINE | ID: mdl-30204945
5.
Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.
Genome Med
; 15(1): 17, 2023 03 14.
Article
in English
| MEDLINE | ID: mdl-36918911
6.
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Fam Cancer
; 22(4): 429-436, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37354305
7.
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma.
HGG Adv
; 4(4): 100225, 2023 10 12.
Article
in English
| MEDLINE | ID: mdl-37646013
8.
Genetic predisposition and evolutionary traces of pediatric cancer risk: a prospective 5-year population-based genome sequencing study of children with CNS tumors.
Neuro Oncol
; 25(4): 761-773, 2023 04 06.
Article
in English
| MEDLINE | ID: mdl-35902210
9.
Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.
Acta Neuropathol Commun
; 10(1): 123, 2022 08 25.
Article
in English
| MEDLINE | ID: mdl-36008825
10.
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
Appl Clin Genet
; 14: 455-466, 2021.
Article
in English
| MEDLINE | ID: mdl-34866929
11.
A complex of BRCA2 and PP2A-B56 is required for DNA repair by homologous recombination.
Nat Commun
; 12(1): 5748, 2021 09 30.
Article
in English
| MEDLINE | ID: mdl-34593815
12.
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Front Genet
; 11: 566266, 2020.
Article
in English
| MEDLINE | ID: mdl-33193653
13.
GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.
Cancers (Basel)
; 11(2)2019 Jan 28.
Article
in English
| MEDLINE | ID: mdl-30696104
14.
Molecular reclassification reveals low prevalence of germline predisposition in children with ependymoma.
Acta Neuropathol Commun
; 11(1): 94, 2023 06 12.
Article
in English
| MEDLINE | ID: mdl-37308955
15.
Genetic Characterization of Adenoid Cystic Carcinoma of the Minor Salivary Glands: A Potential Familial Occurrence in First-Degree Relatives.
Head Neck Pathol
; 11(4): 546-551, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-28210977
16.
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
Thyroid
; 27(2): 215-223, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27809725
17.
Continuing rise in oropharyngeal cancer in a high HPV prevalence area: A Danish population-based study from 2011 to 2014.
Eur J Cancer
; 70: 75-82, 2017 01.
Article
in English
| MEDLINE | ID: mdl-27888679
18.
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation.
APMIS
; 114(12): 912-9, 2006 Dec.
Article
in English
| MEDLINE | ID: mdl-17207093
19.
Hereditary breast and ovarian cancer: new genes in confined pathways.
Nat Rev Cancer
; 16(9): 599-612, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27515922
20.
Validation study of HPV DNA detection from stained FNA smears by polymerase chain reaction: Improving the diagnostic workup of patients with a tumor on the neck.
Cancer Cytopathol
; 124(11): 820-827, 2016 Nov.
Article
in English
| MEDLINE | ID: mdl-27404322