Aggregate penetrance of genomic variants for actionable disorders in European and African Americans

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

(2016) Laura M. Amendola et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

(2016) Robert C. Green et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Precision Public Health for the Era of Precision Medicine

(2016) Muin J. Khoury et al.   AMERICAN JOURNAL OF PREVENTIVE MEDICINE

Toward clinical genomics in everyday medicine: perspectives and recommendations

(2016) Susan K. Delaney et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

The Geisinger MyCode community health initiative: an electronic health record–linked biobank for precision medicine research

(2016) David J. Carey et al.   GENETICS IN MEDICINE

Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records

(2016) Sara L. Van Driest et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

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

(2016) Monkol Lek et al.   NATURE

Individualized Iterative Phenotyping for Genome-wide Analysis of Loss-of-Function Mutations

(2015) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Assessment of incidental findings in 232 whole-exome sequences from the Baylor–Hopkins Center for Mendelian Genomics

(2015) Julie Jurgens et al.   GENETICS IN MEDICINE

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

(2015) Laura M. Amendola et al.   GENOME RESEARCH

Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

(2015) Daniel Trujillano et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

ClinGen — The Clinical Genome Resource

(2015) Heidi L. Rehm et al.   NEW ENGLAND JOURNAL OF MEDICINE

A New Initiative on Precision Medicine

(2015) Francis S. Collins et al.   NEW ENGLAND JOURNAL OF MEDICINE

Breast and ovarian cancer predisposition due to de novo BRCA1 and BRCA2 mutations

(2015) L Golmard et al.   ONCOGENE

Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction

(2015) Aenne S. Thormaehlen et al.   PLoS Genetics

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

(2014) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1families

(2014) Annika Winbo et al.   BMC Cardiovascular Disorders

A systematic approach to the reporting of medically relevant findings from whole genome sequencing

(2014) Heather M McLaughlin et al.   BMC Medical Genetics

Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study

(2014) Penny J Norsworthy et al.   BMC Medical Genetics

Frequent germline deleterious mutations in DNA repair genes in familial prostate cancer cases are associated with advanced disease

(2014) D Leongamornlert et al.   BRITISH JOURNAL OF CANCER

Cancer Screening and Genetics: A Tale of Two Paradigms

(2014) J. G. Hamilton et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing

(2014) Trevor J. Pugh et al.   GENETICS IN MEDICINE

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

(2014) Lauren Lawrence et al.   GENETICS IN MEDICINE

Mutants TP53 p.R273H and p.R273C but not p.R273G Enhance Cancer Cell Malignancy

(2014) Jie Li et al.   HUMAN MUTATION

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Population-Based Screening forBRCA1andBRCA2

(2014) Mary-Claire King et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

Diagnostic Clinical Genome and Exome Sequencing

(2014) Leslie G. Biesecker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Population-based screening for breast and ovarian cancer risk due toBRCA1andBRCA2

(2014) Efrat Gabai-Kapara et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Distinguishing Hypertrophic Cardiomyopathy-Associated Mutations from Background Genetic Noise

(2014) Jamie D. Kapplinger et al.   Journal of Cardiovascular Translational Research

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy

(2013) Katarzyna Kazmierczak et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Malignant Hyperthermia in Canada

(2013) Sheila Riazi et al.   ANESTHESIA AND ANALGESIA

Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population

(2013) Annukka M. Lahtinen et al.   ANNALS OF MEDICINE

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

(2013) Stefano Bertolini et al.   ATHEROSCLEROSIS

BRCA1/2 mutation screening in high-risk breast/ovarian cancer families and sporadic cancer patient surveilling for hidden high-risk families

(2013) Dace Berzina et al.   BMC Medical Genetics

Metabolic Dysregulation of the Insulin-Glucose Axis and Risk of Obesity-Related Cancers in the Framingham Heart Study-Offspring Cohort (1971-2008)

(2013) N. Parekh et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Arrhythmia Risk in Long QT Syndrome

(2013) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

Prevalence and Potential Genetic Determinants of Sensorineural Deafness in KCNQ1 Homozygosity and Compound Heterozygosity

(2013) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

LQTS in Northern BC: homozygosity forKCNQ1V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function

(2013) H.A. Jackson et al.   CLINICAL GENETICS

A systematic approach to assessing the clinical significance of genetic variants

(2013) H Duzkale et al.   CLINICAL GENETICS

We screen newborns, don’t we?: realizing the promise of public health genomics

(2013) James P. Evans et al.   GENETICS IN MEDICINE

Recommendations for returning genomic incidental findings? We need to talk!

(2013) Wylie Burke et al.   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

TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations

(2013) Berivan Baskin et al.   HUMAN GENETICS

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

Reporting Genomic Sequencing Results to Ordering Clinicians

(2013) Robert C. Green et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Population-Based Molecular Screening for Lynch Syndrome: Implications for Personalized Medicine

(2013) Robyn L. Ward et al.   JOURNAL OF CLINICAL ONCOLOGY

The genomic landscape of hypodiploid acute lymphoblastic leukemia

(2013) Linda Holmfeldt et al.   NATURE GENETICS

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

(2013) Jason Flannick et al.   NATURE GENETICS

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

Mutant p53-R273H gains new function in sustained activation of EGFR signaling via suppressing miR-27a expression

(2013) W Wang et al.   Cell Death & Disease

Burden of Rare Sarcomere Gene Variants in the Framingham and Jackson Heart Study Cohorts

(2012) Alexander G. Bick et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management

(2012) Simone Heidemann et al.   BREAST CANCER RESEARCH AND TREATMENT

BRCA1,TP53, andCHEK2germline mutations in uterine serous carcinoma

(2012) Kathryn P. Pennington et al.   CANCER

Cardiac Myosin Binding Protein-C Mutations in Families With Hypertrophic Cardiomyopathy

(2012) Stephen P. Page et al.   Circulation-Cardiovascular Genetics

Phylogenetic and Physicochemical Analyses Enhance the Classification of Rare Nonsynonymous Single Nucleotide Variants in Type 1 and 2 Long-QT Syndrome

(2012) John R. Giudicessi et al.   Circulation-Cardiovascular Genetics

Taxonomizing, sizing and overcoming the incidentalome

(2012) Isaac S. Kohane et al.   GENETICS IN MEDICINE

Exploring concordance and discordance for return of incidental findings from clinical sequencing

(2012) Robert C. Green et al.   GENETICS IN MEDICINE

Managing incidental findings and research results in genomic research involving biobanks and archived data sets

(2012) Susan M. Wolf et al.   GENETICS IN MEDICINE

Drastic Effect of GermlineTP53Missense Mutations in Li-Fraumeni Patients

(2012) Yasmine Zerdoumi et al.   HUMAN MUTATION

Mutant p53R273Hattenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species

(2012) Eyal Kalo et al.   JOURNAL OF CELL SCIENCE

Whole-Genome Sequencing: The New Standard of Care?

(2012) L. R. Brunham et al.   SCIENCE

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

Early Results of Sarcomeric Gene Screening from the Egyptian National BA-HCM Program

(2012) Heba Sh. Kassem et al.   Journal of Cardiovascular Translational Research

BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin

(2012) Angela Solano et al.   SpringerPlus

Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: Importance of genetic testing in the entire family

(2011) Ana-Barbara Garcia-Garcia et al.   ATHEROSCLEROSIS

Early onset HER2-positive breast cancer is associated with germlineTP53mutations

(2011) Amal Melhem-Bertrandt et al.   CANCER

Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting

(2011) J. Lossie et al.   CARDIOVASCULAR RESEARCH

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

(2011) Giovanni Quarta et al.   CIRCULATION

Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure

(2011) Stephan Waldmüller et al.   EUROPEAN JOURNAL OF HEART FAILURE

Association of germline or somatic TP53 missense mutation with oncogene amplification in tumors developed in patients with Li-Fraumeni or Li-Fraumeni-like syndrome

(2011) Waka Sugawara et al.   GENES CHROMOSOMES & CANCER

Gastric cancer in individuals with Li-Fraumeni syndrome

(2011) Serena Masciari et al.   GENETICS IN MEDICINE

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

The GeneInsight suite: a platform to support laboratory and provider use of DNA-based genetic testing

(2011) Samuel J. Aronson et al.   HUMAN MUTATION

Dominant-Negative Features of Mutant TP53 in Germline Carriers Have Limited Impact on Cancer Outcomes

(2011) P. Monti et al.   MOLECULAR CANCER RESEARCH

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries

(2011) Sheila Fisher et al.   GENOME BIOLOGY

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis

(2010) S M Edwards et al.   BRITISH JOURNAL OF CANCER

Sebaceous gland carcinoma of the eyelid masquerading as a cutaneous horn in Li-Fraumeni syndrome

(2010) S. Baumuller et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Short Communication: The Cardiac Myosin Binding Protein C Arg502Trp Mutation

(2010) Adam J. Saltzman et al.   CIRCULATION RESEARCH

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

(2010) Richard R. Fabsitz et al.   Circulation-Cardiovascular Genetics

Long-Term Outcome of 4 Korean Families With Hypertrophic Cardiomyopathy Caused by 4 Different Mutations

(2010) Jin-Oh Choi et al.   CLINICAL CARDIOLOGY

Desmosomal gene analysis in arrhythmogenic right ventricular dysplasia/cardiomyopathy: spectrum of mutations and clinical impact in practice

(2010) Veronique Fressart et al.   EUROPACE

Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit ofIKs

(2010) Jodene Eldstrom et al.   JOURNAL OF GENERAL PHYSIOLOGY

Rhabdomyosarcoma-Associated Renal Cell Carcinoma: A Link with Constitutional TP53 Mutation

(2010) Sarah Curry et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100

(2010) A. Taylor et al.   ANNALS OF CLINICAL BIOCHEMISTRY

High prevalence of four long QT syndrome founder mutations in the Finnish population

(2009) Annukka Marjamaa et al.   ANNALS OF MEDICINE

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3gene

(2009) Philipp Ehlermann et al.   BMC Medical Genetics

Genetic variation in RYR1 and malignant hyperthermia phenotypes

(2009) D. Carpenter et al.   BRITISH JOURNAL OF ANAESTHESIA

Response to Letter Regarding Article, “Early Diagnosis and Treatment of Atrioventricular Block in the Fetus Exposed to Maternal Anti-SSA/ Ro-SSB/La Antibodies: A Prospective, Observational, Fetal Kinetocardiogram-Based Study”

(2009) Azaria J.J.T. Rein et al.   CIRCULATION

Genetic Testing for Long-QT Syndrome

(2009) Suraj Kapa et al.   CIRCULATION

Evidence From Human Myectomy Samples That MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy Through Haploinsufficiency

(2009) Steven Marston et al.   CIRCULATION RESEARCH

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

(2009) Juan Pablo Kaski et al.   Circulation-Cardiovascular Genetics

Comprehensive Desmosome Mutation Analysis in North Americans With Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy

(2009) A. Dénise den Haan et al.   Circulation-Cardiovascular Genetics

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia

(2009) C Barahona-Dussault et al.   CLINICAL GENETICS

A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact

(2009) Laura Arbour et al.   GENETICS IN MEDICINE

Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION® long QT syndrome genetic test

(2009) Jamie D. Kapplinger et al.   HEART RHYTHM

A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

(2009) Paul A. van der Zwaag et al.   HUMAN MUTATION

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Analysis ofRYR1Haplotype Profile in Patients with Malignant Hyperthermia

(2008) D. Carpenter et al.   ANNALS OF HUMAN GENETICS

Spectrum and characterisation of BRCA1 and BRCA2deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

(2008) Eva Machackova et al.   BMC CANCER

Prevalence, Clinical Significance, and Natural History of Left Ventricular Apical Aneurysms in Hypertrophic Cardiomyopathy

(2008) Martin S. Maron et al.   CIRCULATION

The Evidence Dilemma In Genomic Medicine

(2008) Muin J. Khoury et al.   HEALTH AFFAIRS

Accurate classification ofMLH1/MSH2missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR)

(2008) Elizabeth C. Chao et al.   HUMAN MUTATION

High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations

(2008) Khemanganee E Liyanage et al.   ANNALS OF CLINICAL BIOCHEMISTRY