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Perish and publish: Dynamics of biomedical publications by deceased authors

PloS one, 2022-09, Vol.17 (9), p.e0273783

2022

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Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Genetics in medicine, 2018-08, Vol.20 (8), p.890-895

2018

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Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

Human genomics, 2017-05, Vol.11 (1), p.10-10, Article 10

2017

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A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade

eLife, 2017-08, Vol.6

2017

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Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

BioTechniques, 2019-09, Vol.67 (3), p.118-122

2019

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A high-plex PCR approach for massively parallel sequencing

BioTechniques, 2013-08, Vol.55 (2), p.69-74

2013

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sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

International journal of molecular sciences, 2018-10, Vol.19 (10), p.3172

2018

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SRST2: Rapid genomic surveillance for public health and hospital microbiology labs

Genome medicine, 2014-11, Vol.6 (11), p.90-90, Article 90

2014

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FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

BMC medical genetics, 2018-01, Vol.19 (1), p.12-12, Article 12

2018

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Is RNASEL:p.Glu265 a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

BMC cancer, 2018-02, Vol.18 (1), p.165-165, Article 165

2018

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Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Analytical biochemistry, 2013-11, Vol.442 (2), p.127-129

2013

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Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

NPJ breast cancer, 2021-12, Vol.7 (1), p.153-153, Article 153

2021

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Abridged adapter primers increase the target scope of Hi-Plex

BioTechniques, 2015-01, Vol.58 (1), p.33-36

2015

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Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Molecular genetics & genomic medicine, 2019-07, Vol.7 (7), p.e00781-n/a

2019

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Fine resolution mapping of double-strand break sites for human ribosomal DNA units

Genomics data, 2016-12, Vol.10 (C), p.19-21

2016

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Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions

Genome research, 2022-01, Vol.32 (1), p.203-213

2022

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ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets

Source code for biology and medicine, 2014-01, Vol.9 (1), p.3-3, Article 3

2014

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Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

Genomics data, 2017-03, Vol.11 (C), p.43-45

2017

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Rare germline genetic variants and risk of aggressive prostate cancer

International journal of cancer, 2020-10, Vol.147 (8), p.2142-2149

2020

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A polygenic two-hit hypothesis for prostate cancer

JNCI : Journal of the National Cancer Institute, 2023-04, Vol.115 (4), p.468-472

2023

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Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing

Methods in molecular biology (Clifton, N.J.), 2018, Vol.1712, p.53

2018

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Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study

European urology, 2022-08, Vol.82 (2), p.201-211

2022

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Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family

Familial cancer, 2024-03, Vol.23 (1), p.9-21

2024

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Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

The Journal of molecular diagnostics : JMD, 2021-03, Vol.23 (3), p.358-371

2021

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Perish and publish: Dynamics of biomedical publications by deceased authors

Risk of colorectal cancer for carriers of a germ-line mutation in POLE or POLD1

Variant effect prediction tools assessed using independent, functional assay-based datasets: implications for discovery and diagnostics

A novel Drosophila injury model reveals severed axons are cleared through a Draper/MMP-1 signaling cascade

Hi-Plex2: a simple and robust approach to targeted sequencing-based genetic screening

A high-plex PCR approach for massively parallel sequencing

sEst: Accurate Sex-Estimation and Abnormality Detection in Methylation Microarray Data

SRST2: Rapid genomic surveillance for public health and hospital microbiology labs

FANCM and RECQL genetic variants and breast cancer susceptibility: relevance to South Poland and West Ukraine

Is RNASEL:p.Glu265 a modifier of early-onset breast cancer risk for carriers of high-risk mutations?

Cross-platform compatibility of Hi-Plex, a streamlined approach for targeted massively parallel sequencing

Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing

Abridged adapter primers increase the target scope of Hi-Plex

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome

Fine resolution mapping of double-strand break sites for human ribosomal DNA units

Long-read assembly and comparative evidence-based reanalysis of Cryptosporidium genome sequences reveal expanded transporter repertoire and duplication of entire chromosome ends including subtelomeric regions

ROVER variant caller: read-pair overlap considerate variant-calling software applied to PCR-based massively parallel sequencing datasets

Evaluating the utility of tumour mutational signatures for identifying hereditary colorectal cancer and polyposis syndrome carriers

Single nucleotide-level mapping of DNA double-strand breaks in human HEK293T cells

Rare germline genetic variants and risk of aggressive prostate cancer

A polygenic two-hit hypothesis for prostate cancer

Hi-Plex for Simple, Accurate, and Cost-Effective Amplicon-based Targeted DNA Sequencing

Rare Germline Variants Are Associated with Rapid Biochemical Recurrence After Radical Prostate Cancer Treatment: A Pan Prostate Cancer Group Study

Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family

Germline and Tumor Sequencing as a Diagnostic Tool To Resolve Suspected Lynch Syndrome

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