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Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report

BMC cancer, 2019-06, Vol.19 (1), p.567-567, Article 567

2019

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Zebrafish Avatars: Toward Functional Precision Medicine in Low-Grade Serous Ovarian Cancer

Cancers, 2024-05, Vol.16 (10), p.1812

2024

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Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study

NPJ precision oncology, 2024-03, Vol.8 (1), p.71-71, Article 71

2024

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EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

European journal of human genetics : EJHG, 2024-05, Vol.32 (5), p.479-488

2024

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The psychological impact of genetic testing in childhood cancer: A systematic review

Psycho-oncology (Chichester, England), 2024-01, Vol.33 (1), p.e6279-n/a

2024

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Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer

Scientific reports, 2021-06, Vol.11 (1), p.12880-12880, Article 12880

2021

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SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Genome biology, 2014-06, Vol.15 (6), p.R80-R80

2014

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Decoding NF1 Intragenic Copy-Number Variations

American journal of human genetics, 2015-08, Vol.97 (2), p.238-249

2015

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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

Human genetics, 2018-07, Vol.137 (6-7), p.511-520

2018

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Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Clinical genetics, 2021-02, Vol.99 (2), p.292-297

2021

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Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Breast cancer research : BCR, 2016-05, Vol.18 (1), p.52-52, Article 52

2016

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Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits

Cancer letters, 2018-07, Vol.425, p.125-133

2018

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The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases

Frontiers in cell and developmental biology, 2019-01, Vol.6, p.178-178

2019

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BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Human mutation, 2018-12, Vol.39 (12), p.2025-2039

2018

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Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene

Human mutation, 2014-07, Vol.35 (7), p.891-898

2014

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Breast-Cancer Risk in Families with Mutations in PALB2

The New England journal of medicine, 2014-08, Vol.371 (6), p.497-506

2014

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Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility

Genes & diseases, 2023-03, Vol.10 (2), p.381-384

2023

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Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Oncology reports, 2017-03, Vol.37 (3), p.1379-1386

2017

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Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

European journal of human genetics : EJHG, 2024-08

2024

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Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium

Acta anaesthesiologica Scandinavica, 2021-02, Vol.65 (2), p.182-187

2021

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Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Nature communications, 2016-04, Vol.7 (1), p.11375-13, Article 11375

2016

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Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era

Methods in molecular biology (Clifton, N.J.), 2014-01, Vol.1167, p.303

2014

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Chromosomal radiosensitivity of triple negative breast cancer patients

International journal of radiation biology, 2019-11, Vol.95 (11), p.1507-1516

2019

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Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm

Scientific reports, 2017-11, Vol.7 (1), p.16518-10, Article 16518

2017

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Long term response on Regorafenib in non-V600E BRAF mutated colon cancer: a case report

Zebrafish Avatars: Toward Functional Precision Medicine in Low-Grade Serous Ovarian Cancer

Identification of potentially actionable genetic variants in epithelial ovarian cancer: a retrospective cohort study

EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

The psychological impact of genetic testing in childhood cancer: A systematic review

Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints

Decoding NF1 Intragenic Copy-Number Variations

Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences

Missing heritability in Bloom syndrome: First report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Increased chromosomal radiosensitivity in asymptomatic carriers of a heterozygous BRCA1 mutation

Accurate detection and quantification of epigenetic and genetic second hits in BRCA1 and BRCA2-associated hereditary breast and ovarian cancer reveals multiple co-acting second hits

The Zebrafish as an Emerging Model to Study DNA Damage in Aging, Cancer and Other Diseases

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients

BRCA1 and BRCA2 5′ noncoding region variants identified in breast cancer patients alter promoter activity and protein binding

Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 Gene

Breast-Cancer Risk in Families with Mutations in PALB2

Atm deficient zebrafish model reveals conservation of the tumour suppressor function and a role in fertility

Analysis of chromosomal radiosensitivity of healthy BRCA2 mutation carriers and non-carriers in BRCA families with the G2 micronucleus assay

Correction: EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer

Timing of blood sampling for butyrylcholinesterase phenotyping in patients with prolonged neuromuscular block after mivacurium or suxamethonium

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Dealing with pseudogenes in molecular diagnostics in the next-generation sequencing era

Chromosomal radiosensitivity of triple negative breast cancer patients

Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm

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