Aggregate penetrance of genomic variants for actionable disorders in European and African Americans (Q39199102)

14 June 2018

title

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

1 reference

14 June 2018

author

Heidi L. Rehm

6

1 reference

14 June 2018

Pradeep Natarajan

Pradeep Natarajan

1

0 references

Robert C. Green

13

Robert C Green

1 reference

14 June 2018

12

Sekar Kathiresan

1 reference

14 June 2018

9

Adolfo Correa

1 reference

14 June 2018

Christine E. Seidman

11

Christine E Seidman

1 reference

14 June 2018

James G. Wilson

8

James G Wilson

1 reference

14 June 2018

author name string

Nina B Gold

2

1 reference

14 June 2018

Alexander G Bick

3

1 reference

14 June 2018

Heather McLaughlin

4

1 reference

14 June 2018

Gina M Peloso

7

1 reference

14 June 2018

Jonathan G Seidman

10

1 reference

14 June 2018

Peter Kraft

5

1 reference

14 June 2018

PMCID

5823271

language of work or name

English

0 references

publication date

1 November 2016

1 reference

14 June 2018

Science Translational Medicine

published in

1 reference

14 June 2018

volume

8

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14 June 2018

page(s)

364ra151

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14 June 2018

issue

364

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14 June 2018

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

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17 June 2018

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17 June 2018

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17 June 2018

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction

17 June 2018

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

17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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Molecular findings among patients referred for clinical whole-exome sequencing

17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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Return of genomic results to research participants: the floor, the ceiling, and the choices in between

17 June 2018

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

17 June 2018

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Guidelines for investigating causality of sequence variants in human disease

17 June 2018

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Cancer screening and genetics: a tale of two paradigms

17 June 2018

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Mutants TP53 p.R273H and p.R273C but not p.R273G enhance cancer cell malignancy

17 June 2018

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

17 June 2018

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Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families

17 June 2018

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Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

17 June 2018

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Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status

17 June 2018

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Realizing the promise of cancer predisposition genes

17 June 2018

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Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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Actionable, pathogenic incidental findings in 1,000 participants' exomes

17 June 2018

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17 June 2018

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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation

17 June 2018

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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.

17 June 2018

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Reporting genomic sequencing results to ordering clinicians: incidental, but not exceptional

17 June 2018

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

17 June 2018

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17 June 2018

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

17 June 2018

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

17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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17 June 2018

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Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome

17 June 2018

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Novel BRCA1 and BRCA2 pathogenic mutations in Slovene hereditary breast and ovarian cancer families

17 June 2018

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BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma

17 June 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

17 June 2018

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17 June 2018

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

17 June 2018

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Taxonomizing, sizing, and overcoming the incidentalome

17 June 2018

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

17 June 2018

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A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

17 June 2018

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Early onset HER2-positive breast cancer is associated with germline TP53 mutations

17 June 2018

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

17 June 2018

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Gastric cancer in individuals with Li-Fraumeni syndrome

17 June 2018

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

17 June 2018

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17 June 2018

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Dominant-negative features of mutant TP53 in germline carriers have limited impact on cancer outcomes.

17 June 2018

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17 June 2018

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Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group

17 June 2018

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

17 June 2018

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

17 June 2018

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Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

17 June 2018

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

17 June 2018

1 reference

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Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy

17 June 2018

1 reference

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Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy

17 June 2018

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Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

17 June 2018

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

17 June 2018

1 reference

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Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

17 June 2018

1 reference

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A genetic variants database for arrhythmogenic right ventricular dysplasia/cardiomyopathy

17 June 2018

1 reference

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Fast and accurate short read alignment with Burrows-Wheeler transform

17 June 2018

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

17 June 2018

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Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene

17 June 2018

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Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer.

17 June 2018

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Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer

17 June 2018

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p53 dominant-negative mutant R273H promotes invasion and migration of human endometrial cancer HHUA cells

17 June 2018

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Transcriptional functionality of germ line p53 mutants influences cancer phenotype.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Cardiovascular disease event classification in the Jackson Heart Study: methods and procedures.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Modulation of gene expression by tumor-derived p53 mutants

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Population screening in the age of genomic medicine

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Identification of a point mutation in growth factor repeat C of the low density lipoprotein-receptor gene in a patient with homozygous familial hypercholesterolemia that affects ligand binding and intracellular movement of receptors

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

The framingham offspring study. Design and preliminary data

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Recurrent germ-line BRCA1 mutations in extended African American families with early-onset breast cancer

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Population-based screening for BRCA1 and BRCA2: 2014 Lasker Award.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Metabolic dysregulation of the insulin-glucose axis and risk of obesity-related cancers in the Framingham heart study-offspring cohort (1971-2008).

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Population-based molecular screening for Lynch syndrome: implications for personalized medicine

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Mutant p53R273H attenuates the expression of phase 2 detoxifying enzymes and promotes the survival of cells with high levels of reactive oxygen species

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Genetic variation in RYR1 and malignant hyperthermia phenotypes

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

The Human Gene Mutation Database: 2008 update

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

The evidence dilemma in genomic medicine.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Analysis of RYR1 haplotype profile in patients with malignant hyperthermia

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR).

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Study design for genetic analysis in the Jackson Heart Study

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Recruiting African-American research participation in the Jackson Heart Study: methods, response rates, and sample description.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Association of colonic and endometrial carcinomas in Portuguese families with hereditary nonpolyposis colorectal carcinoma significantly increases the probability of detecting a pathogenic mutation in mismatch repair genes, primarily the MSH2 gene.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Compound mutations: a common cause of severe long-QT syndrome.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Association of biallelic BRCA2/FANCD1 mutations with spontaneous chromosomal instability and solid tumors of childhood.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

On the use of familial aggregation in population-based case probands for calculating penetrance.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Genotype-phenotype comparison of the Swiss malignant hyperthermia population.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

BRCA2 germline mutations among early onset breast cancer patients unselected for family history of the disease

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test.

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Medicine. Whole-genome sequencing: the new standard of care?

21 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

The Third Generation Cohort of the National Heart, Lung, and Blood Institute's Framingham Heart Study: Design, Recruitment, and Initial Examination

1 October 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAG2367

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAG2367

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

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

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

4 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5823271

Whole-Genome Sequencing: The New Standard of Care?

4 November 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAG2367

Familial Evaluation in Arrhythmogenic Right Ventricular Cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAG2367

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCITRANSLMED.AAG2367

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

21 January 2018

1 reference

12 December 2020

BRCA1 and BRCA2 mutations in a study of African American breast cancer patients

1 reference

12 December 2020

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms

1 reference

12 December 2020

Drastic effect of germline TP53 missense mutations in Li-Fraumeni patients

1 reference

12 December 2020

Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL

1 reference

12 December 2020

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays

1 reference

12 December 2020

Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy

1 reference

12 December 2020

Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional Tp53 mutation

1 reference

12 December 2020

Sequence analysis of BRCA1 and BRCA2: correlation of mutations with family history and ovarian cancer risk

1 reference

12 December 2020

[Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy]

1 reference

12 December 2020

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

1 reference

12 December 2020

Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia

1 reference

12 December 2020

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

12 December 2020

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy

1 reference

12 December 2020

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

1 reference

12 December 2020

The cancer experience in the framingham heart study cohort

1 reference

12 December 2020

10.1126/SCITRANSLMED.AAG2367

Identifiers

DOI

1 reference

14 June 2018

PMCID

5823271

1 reference

14 June 2018

PubMed ID

27831900

1 reference

14 June 2018