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- 2024
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Mark
Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia
(
- Contribution to journal › Article
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Mark
Public attitudes challenge clinical practice on genetic risk disclosure in favour of healthcare-provided direct dissemination to relatives
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4 : A poly-glycine disease
(
- Contribution to journal › Article
- 2023
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Mark
A Swedish SCA34 family with late onset ataxia, cerebellar atrophy and ocular movement abnormalities with a novel mutation in ELOVL4
(
- Contribution to journal › Published meeting abstract
-
Mark
Extended genetic analysis and tumor characteristics in over 4600 women with suspected hereditary breast and ovarian cancer
(
- Contribution to journal › Article
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Mark
Molecular characteristics of breast tumors in patients screened for germline predisposition from a population-based observational study
(
- Contribution to journal › Article
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Mark
Building a precision medicine infrastructure at a national level: The Swedish experience
(
- Contribution to journal › Scientific review
- 2022
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Mark
Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
(
- Contribution to journal › Article
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Mark
Implementing precision medicine in a regionally organized healthcare system in Sweden
(
- Contribution to journal › Letter
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Mark
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation
(
- Contribution to journal › Article
- 2021
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Mark
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients
(
- Contribution to journal › Article
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Mark
Helgenomanalys vid sällsynta diagnoser ger stor patientnytta
(
- Contribution to specialist publication or newspaper › Specialist publication article
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Mark
Genetic testing in women with early-onset breast cancer : a Traceback pilot study
(
- Contribution to journal › Article
- 2020
-
Mark
Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families
(
- Contribution to journal › Article
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Mark
Public support for healthcare-mediated disclosure of hereditary cancer risk information : Results from a population-based survey in Sweden
(
- Contribution to journal › Article
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Mark
Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D
(
- Contribution to journal › Article
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Mark
Variations in the Referral Pattern for Genetic Counseling of Patients with Early-Onset Breast Cancer : A Population-Based Study in Southern Sweden
(
- Contribution to journal › Article
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Mark
Comprehensive molecular comparison of BRCA1 hypermethylated and BRCA1 mutated triple negative breast cancers
(
- Contribution to journal › Article
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Mark
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
(
- Contribution to journal › Article
-
Mark
The spectrum of fancm protein truncating variants in European breast cancer cases
(
- Contribution to journal › Article
-
Mark
Whole-genome sequencing of triple negative breast cancers in a standard population-based clinical setting
2020) UK Interdisciplinary Breast Cancer Symposium 2020 In Breast Cancer Research and Treatment 180. p.531-532(
- Contribution to journal › Published meeting abstract
- 2019
-
Mark
Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors : an international survey
(
- Contribution to journal › Article
-
Mark
Hereditary colorectal cancer diagnostics in southern Sweden : retrospective evaluation and future considerations with emphasis on Lynch syndrome
(
- Contribution to journal › Article
-
Mark
Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study
(
- Contribution to journal › Article
-
Mark
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification
(
- Contribution to journal › Article
- 2018
-
Mark
The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
(
- Contribution to journal › Article
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Mark
Use of the BOADICEA Web Application in clinical practice : appraisals by clinicians from various countries
(
- Contribution to journal › Article
-
Mark
Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI) : a prespecified interim analysis of a prospective, multicentre, non-randomised, trial
(
- Contribution to journal › Article
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Mark
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations
(
- Contribution to journal › Article
-
Mark
Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility
(
- Contribution to journal › Article
- 2017
-
Mark
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
(
- Contribution to journal › Article
-
Mark
Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia
(
- Contribution to journal › Article
-
Mark
Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2016
-
Mark
Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.
2016) In Nature Genetics(
- Contribution to journal › Article
-
Mark
Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus
(
- Contribution to journal › Article
-
Mark
No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer
(
- Contribution to journal › Article
-
Mark
Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer
(
- Contribution to journal › Article
- 2015
-
Mark
Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.
(
- Contribution to journal › Article
-
Mark
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
(
- Contribution to journal › Article
-
Mark
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
(
- Contribution to journal › Article
-
Mark
Dasatinib induces fast and deep responses in newly diagnosed chronic myeloid leukaemia patients in chronic phase: clinical results from a randomised phase-2 study (NordCML006)
(
- Contribution to journal › Article
-
Mark
Laboratory recommendations for scoring deep molecular responses following treatment for chronic myeloid leukemia.
(
- Contribution to journal › Scientific review
- 2014
-
Mark
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
(
- Contribution to journal › Article
-
Mark
RNA-seq identifies clinically relevant fusion genes in leukemia including a novel MEF2D/CSF1R fusion responsive to imatinib.
(
- Contribution to journal › Letter
-
Mark
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
(
- Contribution to journal › Article
-
Mark
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
(
- Contribution to journal › Article
- 2013
-
Mark
Whole-genome-amplified DNA as a source for mutational analysis underestimates the frequency of mutations in pediatric acute myeloid leukemia
(
- Contribution to journal › Letter
-
Mark
Impact of malignant stem cell burden on therapy outcome in newly diagnosed chronic myeloid leukemia patients
(
- Contribution to journal › Article
-
Mark
Analysis of Mice Lacking the Heparin-Binding Splice Isoform of Platelet-Derived Growth Factor A
(
- Contribution to journal › Article
- 2012
-
Mark
Distinct transcriptional control in major immunogenetic subsets of chronic lymphocytic leukemia exhibiting subset-biased global DNA methylation profiles
(
- Contribution to journal › Article