Evidence for penetrance in patients without a family history of disease: a systematic review

Capture Hi-C identifies putative target genes at 33 breast cancer risk loci

(2018) Joseph S. Baxter et al.   Nature Communications

Mosaic Turner syndrome shows reduced penetrance in an adult population study

(2018) Marcus A. Tuke et al.   GENETICS IN MEDICINE

“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

(2017) Elizabeth Ormondroyd et al.   GENETICS IN MEDICINE

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

(2017) Lisenka E.L.M. Vissers et al.   GENETICS IN MEDICINE

Screening for familial cancer risk: Focus on breast cancer

(2017) Christine Rousset-Jablonski et al.   MATURITAS

Reading the fine print when buying your genetic self online: direct-to-consumer genetic testing terms and conditions

(2017) Andelka M. Phillips   NEW GENETICS AND SOCIETY

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

(2017) Yuya Kobayashi et al.   Genome Medicine

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey

(2016) M. Lefebvre et al.   CLINICAL GENETICS

The Common p.R114WHNF4AMutation Causes a Distinct Clinical Subtype of Monogenic Diabetes

(2016) Thomas W. Laver et al.   DIABETES

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation

(2016) Jessica Ezzell Hunter et al.   GENETICS IN MEDICINE

A deep dive into genetic variation

(2016) Jay Shendure   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Quantifying prion disease penetrance using large population control cohorts

(2016) Eric Vallabh Minikel et al.   Science Translational Medicine

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa

(2016) Anna M. Rose et al.   Scientific Reports

Impact of presymptomatic genetic testing on young adults: a systematic review

(2015) Lea Godino et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing

(2015) Jonathan S. Berg et al.   GENETICS IN MEDICINE

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

The DNA of a nation

(2015) Vivien Marx   NATURE

Return of genetic testing results in the era of whole-genome sequencing

(2015) Bartha Maria Knoppers et al.   NATURE REVIEWS GENETICS

Cancers associated withBRCA1andBRCA2mutations other than breast and ovarian

(2014) Jacqueline Mersch et al.   CANCER

Revealing the results of whole-genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues: Table 1

(2014) Nina Hallowell et al.   JOURNAL OF MEDICAL ETHICS

Incidental findings in clinical genomics: a clarification

(2013)   GENETICS IN MEDICINE

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

(2013) David N. Cooper et al.   HUMAN GENETICS

Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals

(2013) Christopher A. Cassa et al.   HUMAN MUTATION

Comparison of Genomic and Epigenomic Expression in Monozygotic Twins Discordant for Rett Syndrome

(2013) Miyake Kunio et al.   PLoS One

Policy challenges of clinical genome sequencing

(2013) C. F. Wright et al.   BMJ-British Medical Journal

Incidental findings in genetic research and clinical diagnostic tests: A systematic review

(2012) Leigh Jackson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Small effective population size and genetic homogeneity in the Val Borbera isolate

(2012) Vincenza Colonna et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Low penetrance alleles as risk modifiers in familial and sporadic breast cancer

(2012) Eva Esteban Cardeñosa et al.   Familial Cancer

Disclosing pathogenic genetic variants to research participants: Quantifying an emerging ethical responsibility

(2011) C. A. Cassa et al.   GENOME RESEARCH

Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application

(2010) Rita M. Cantor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Large normal and reduced penetrance alleles in Huntington disease: instability in families and frequency at the laboratory, at the clinic and in the population

(2010) J Sequeiros et al.   CLINICAL GENETICS

Ethical challenges in genotype-driven research recruitment

(2010) L. M. Beskow et al.   GENOME RESEARCH

Estimating the probability of de novo HD cases from transmissions of expanded penetrant CAG alleles in the Huntington disease gene from male carriers of high normal alleles (27-35 CAG)

(2009) Audrey E. Hendricks et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants

(2009) Palle Pedersen et al.   ANNALS OF HEMATOLOGY

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

(2009) C Thauvin-Robinet et al.   JOURNAL OF MEDICAL GENETICS

Preferred Reporting Items for Systematic Reviews and Meta-Analyses: The PRISMA Statement

(2009) David Moher et al.   PLOS MEDICINE

Methods for the thematic synthesis of qualitative research in systematic reviews

(2008) James Thomas et al.   BMC Medical Research Methodology

Variation of Breast Cancer Risk Among BRCA1/2 Carriers

(2008) Colin B. Begg et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

New presentation of familial medullary thyroid carcinoma in 87-year-old patient with high-risk RET proto-oncogene codon 620 mutation

(2008) M K J Jaggard et al.   JOURNAL OF LARYNGOLOGY AND OTOLOGY