Detalhe da pesquisa
1.
Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.
J Med Genet
; 60(5): 464-468, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36038259
2.
Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study.
Clin Genet
; 104(1): 81-89, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017260
3.
Constitutional POLE variants causing a phenotype reminiscent of constitutional mismatch repair deficiency.
Hum Mutat
; 43(1): 85-96, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34816535
4.
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.
Genet Med
; 23(2): 363-373, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144681
5.
Dihydropyrimidine dehydrogenase (DPD) genotype and phenotype among Danish cancer patients: prevalence and correlation between DPYD-genotype variants and P-uracil concentrations.
Acta Oncol
; 61(11): 1400-1405, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256873
6.
Germline Chromothripsis Driven by L1-Mediated Retrotransposition and Alu/Alu Homologous Recombination.
Hum Mutat
; 37(4): 385-95, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26929209
7.
A germline chromothripsis event stably segregating in 11 individuals through three generations.
Genet Med
; 18(5): 494-500, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26312826
8.
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
BMC Med Genet
; 16: 40, 2015 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-26099342
9.
Whole genome sequencing in clinical practice.
BMC Med Genomics
; 17(1): 39, 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38287327
10.
Chromosomal rearrangements in Tourette syndrome: implications for identification of candidate susceptibility genes and review of the literature.
Neurogenetics
; 14(3-4): 197-203, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23989977
11.
A Danish national effort of BRCA1/2 variant classification.
Acta Oncol
; 57(1): 159-162, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168416
12.
Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities.
Am J Med Genet B Neuropsychiatr Genet
; 162B(8): 825-31, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894120
13.
Thyrotoxic periodic paralysis in a Caucasian man without identifiable genetic predisposition: a case report.
Thyroid Res
; 16(1): 10, 2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37122018
14.
New pathogenic germline variants identified in mesothelioma.
Lung Cancer
; 179: 107172, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36944283
15.
Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.
Fam Cancer
; 22(4): 429-436, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37354305
16.
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Clin Cancer Res
; 29(16): 3037-3050, 2023 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37449874
17.
Distinct gastric phenotype in patients with pathogenic variants in SMAD4: A nationwide cross-sectional study.
Endosc Int Open
; 10(12): E1537-E1543, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531685
18.
Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.
Fam Cancer
; 20(1): 55-59, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504210
19.
Germline RBBP8 variants associated with early-onset breast cancer compromise replication fork stability.
J Clin Invest
; 130(8): 4069-4080, 2020 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32379725
20.
The Spectrum of FANCM Protein Truncating Variants in European Breast Cancer Cases.
Cancers (Basel)
; 12(2)2020 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31991861