Author details

Full Name

Stephen E Lincoln

Affiliation

ORCID

Career Start Year

1987

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37207865	Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors.		2023
35132260	Curated variation benchmarks for challenging medically relevant autosomal genes.	Nat Biotechnol	2022
35626031	Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients.	Cancers (Basel)	2022
34007000	One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.	Genet Med	2021
33026450	Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer.	JAMA Netw Open	2020
29895855	Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.	Genet Med	2019
30610921	A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing-Detected Variants with an Orthogonal MethodÂ in Clinical Genetic Testing.	J Mol Diagn	2019
29360161	Germline mutation prevalence in individuals with pancreatic cancer and a history of previous malignancy.	Cancer	2018
29998407	Underdiagnosis of Hereditary Breast and Ovarian Cancer in Medicare Patients: Genetic Testing Criteria Miss the Mark.	Ann Surg Oncol	2018
29215652	Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar.	Genet Med	2018
29279374	Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.	Proc Natl Acad Sci U S A	2018
29154853	Standards and Guidelines for Validating Next-Generation Sequencing Bioinformatics Pipelines: A Joint Recommendation of the Association for Molecular Pathology and the College of American Pathologists.	J Mol Diagn	2018
28135136	Clinical Genetics Testing Laboratories Have a Remarkably Low Rate of Clinically Significant Discordance When Interpreting Variants in Hereditary Cancer Syndrome Genes.	J Clin Oncol	2017
28569743	Sources of discordance among germ-line variant classifications in ClinVar.	Genet Med	2017
28782058	Consistency of <i>BRCA1</i> and <i>BRCA2</i> Variant Classifications Among Clinical Diagnostic Laboratories.	JCO Precis Oncol	2017
27896972	DATA SHARING AND REPRODUCIBLE CLINICAL GENETIC TESTING: SUCCESSES AND CHALLENGES.	Pac Symp Biocomput	2017
28166811	Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.	Genome Med	2017
29263814	Germline hemizygous deletion of <i>CDKN2A-CDKN2B</i> locus in a patient presenting with Li-Fraumeni syndrome.	NPJ Genom Med	2016
26207792	A Systematic Comparison of Traditional and Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Genes in More Than 1000 Patients.	J Mol Diagn	2015
26270727	Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.	JAMA Oncol	2015
24733792	Clinical evaluation of a multiple-gene sequencing panel for hereditary cancer risk assessment.	J Clin Oncol	2014
25606444	Pollitt syndrome patients carry mutation in TTDN1.	Meta Gene	2014
25189529	Whole-genome sequencing of asian lung cancers: second-hand smoke unlikely to be responsible for higher incidence of lung cancer among Asian never-smokers.	Cancer Res	2014
23040495	Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.	Am J Hum Genet	2012
22511877	Type 2 diabetes risk alleles demonstrate extreme directional differentiation among human populations, compared to other diseases.	PLoS Genet	2012
22931316	MYD88 L265P somatic mutation in WaldenstrÃ¶m's macroglobulinemia.	New England Journal of Medicine	2012
18776908	Integrated detection and population-genetic analysis of SNPs and copy number variation.	Nat Genet	2008
8211130	A genetic linkage map of the mouse: current applications and future prospects.	Science	1993
8211131	Genome maps IV 1993. Wall chart.	Science	1993
1427888	Systematic detection of errors in genetic linkage data.	Genomics	1992
1468633	Identification of genetic factors contributing to heterosis in a hybrid from two elite maize inbred lines using molecular markers.	Genetics	1992
1353738	A genetic map of the mouse suitable for typing intraspecific crosses.	Genetics	1992
1655275	Genetic mapping of a gene causing hypertension in the stroke-prone spontaneously hypertensive rat.	Cell	1991
1673106	Mendelian factors underlying quantitative traits in tomato: comparison across species, generations, and environments.	Genetics	1991
2902517	Resolution of quantitative traits into Mendelian factors by using a complete linkage map of restriction fragment length polymorphisms.	Nature	1988
2902785	A genetic linkage map of 27 loci from PND to FY on the short arm of human chromosome I.	Am J Hum Genet	1988
2906309	Genetic analysis of the fungus, Bremia lactucae, using restriction fragment length polymorphisms.	Genetics	1988
3177382	The appropriate threshold for declaring linkage when allowing sex-specific recombination rates.	Am J Hum Genet	1988
3692487	MAPMAKER: an interactive computer package for constructing primary genetic linkage maps of experimental and natural populations.	Genomics	1987