Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.

[1]  C. Sirtori,et al.  Autosomal Recessive Hypercholesterolemia: Long-Term Cardiovascular Outcomes. , 2018, Journal of the American College of Cardiology.

[2]  M. Bourbon,et al.  Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis , 2017, Genetics in Medicine.

[3]  F. Domínguez,et al.  Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. , 2017, Journal of the American College of Cardiology.

[4]  J. Krieger,et al.  Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil. , 2017, Atherosclerosis.

[5]  R. Hegele,et al.  Recent advances in genetic testing for familial hypercholesterolemia , 2017, Expert review of molecular diagnostics.

[6]  M. Yamagishi,et al.  Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia , 2017, European heart journal.

[7]  B. Nordestgaard,et al.  Genetic testing for familial hypercholesterolaemia is essential in individuals with high LDL cholesterol: who does it in the world? , 2017, European heart journal.

[8]  S. Humphries,et al.  Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia , 2017, Atherosclerosis.

[9]  S. Humphries,et al.  Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK , 2017, European heart journal.

[10]  L. Fajkusová,et al.  Familial hypercholesterolemia in the Czech Republic: more than 17 years of systematic screening within the MedPed project. , 2017, Physiological research.

[11]  G. Watts,et al.  Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study. , 2017, The lancet. Diabetes & endocrinology.

[12]  P. Hopkins,et al.  Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns , 2017, Current opinion in lipidology.

[13]  J. Knowles,et al.  The role of registries and genetic databases in familial hypercholesterolemia. , 2017, Current opinion in lipidology.

[14]  G. Watts,et al.  Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study) , 2017, Circulation.

[15]  M. Bourbon,et al.  Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia? , 2017, Journal of clinical lipidology.

[16]  Dustin N. Hartzel,et al.  Genetic identification of familial hypercholesterolemia within a single U.S. health care system , 2016, Science.

[17]  John F. Robinson,et al.  Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically , 2016, Arteriosclerosis, thrombosis, and vascular biology.

[18]  W. Chung,et al.  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, Genetics in Medicine.

[19]  S. Humphries,et al.  The UCL low-density lipoprotein receptor gene variant database: pathogenicity update , 2016, Journal of Medical Genetics.

[20]  A. Miserez,et al.  Familial defective apolipoprotein B-100: A review. , 2016, Journal of clinical lipidology.

[21]  G. Watts,et al.  Familial combined hyperlipidemia and hyperlipoprotein(a) as phenotypic mimics of familial hypercholesterolemia: Frequencies, associations and predictions. , 2016, Journal of clinical lipidology.

[22]  J. Kastelein,et al.  Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease. , 2016, Journal of clinical lipidology.

[23]  D. Wald,et al.  Child-Parent Familial Hypercholesterolemia Screening in Primary Care. , 2016, The New England journal of medicine.

[24]  Emily C. O'Brien,et al.  US physician practices for diagnosing familial hypercholesterolemia: data from the CASCADE-FH registry. , 2016, Journal of clinical lipidology.

[25]  C. Strauss,et al.  Familial hypercholesterolemia in a large ambulatory population: Statin use, optimal treatment, and identification for advanced medical therapies. , 2016, Journal of clinical lipidology.

[26]  D. Lloyd‐Jones,et al.  Long-Term Risk of Atherosclerotic Cardiovascular Disease in US Adults With the Familial Hypercholesterolemia Phenotype , 2016, Circulation.

[27]  B. Nordestgaard,et al.  High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study. , 2016, The lancet. Diabetes & endocrinology.

[28]  J. Danesh,et al.  Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia. , 2016, Journal of the American College of Cardiology.

[29]  G. Watts,et al.  Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217. , 2016, European heart journal.

[30]  J. Cigarroa,et al.  Further Evolution of the ACC/AHA Clinical Practice Guideline Recommendation Classification System: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. , 2016, Circulation.

[31]  Johannes B. Reitsma,et al.  Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia , 2016, European heart journal.

[32]  G. Watts,et al.  Attainment of LDL-Cholesterol Treatment Goals in Patients With Familial Hypercholesterolemia: 5-Year SAFEHEART Registry Follow-Up. , 2016, Journal of the American College of Cardiology.

[33]  J. Kastelein,et al.  Statin Initiation During Childhood in Patients With Familial Hypercholesterolemia: Consequences for Cardiovascular Risk. , 2016, Journal of the American College of Cardiology.

[34]  K. Hayashi,et al.  A de novo mutation of the LDL receptor gene as the cause of familial hypercholesterolemia identified using whole exome sequencing. , 2016, Clinica chimica acta; international journal of clinical chemistry.

[35]  Matthew K Ito,et al.  The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association. , 2015, Circulation.

[36]  M. Krempf,et al.  Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody , 2015, Circulation. Cardiovascular genetics.

[37]  Ricardo Villamarín-Salomón,et al.  ClinVar: public archive of interpretations of clinically relevant variants , 2015, Nucleic Acids Res..

[38]  N. Bratina,et al.  Universal Screening for Familial Hypercholesterolemia in Children. , 2015, Journal of the American College of Cardiology.

[39]  Jonathan S Berg,et al.  Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. , 2015, American journal of human genetics.

[40]  S. Yamashita,et al.  Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation , 2015, European journal of preventive cardiology.

[41]  E. Clayton.  Why the Americans with Disabilities Act Matters for genetics. , 2015, JAMA.

[42]  T. Wieland,et al.  Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction , 2015, European Journal of Human Genetics.

[43]  L. Brooks,et al.  ClinGen--the Clinical Genome Resource. , 2015, The New England journal of medicine.

[44]  J. Borén,et al.  Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment , 2015, European heart journal.

[45]  I. Mcdowell,et al.  Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales. , 2015, Atherosclerosis.

[46]  J. Kastelein,et al.  Homozygous autosomal dominant hypercholesterolaemia: prevalence, diagnosis, and current and future treatment perspectives , 2015, Current opinion in lipidology.

[47]  John F. Robinson,et al.  Targeted next-generation sequencing in monogenic dyslipidemias , 2015, Current opinion in lipidology.

[48]  H. Rehm,et al.  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, Genetics in Medicine.

[49]  F. Raal,et al.  Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial , 2015, The Lancet.

[50]  D. Gaudet,et al.  Canadian Cardiovascular Society position statement on familial hypercholesterolemia. , 2014, The Canadian journal of cardiology.

[51]  R. Dufour,et al.  PCSK9 R46L, Lower LDL, and Cardiovascular Disease Risk in Familial Hypercholesterolemia: A Cross-Sectional Cohort Study , 2014, Arteriosclerosis, thrombosis, and vascular biology.

[52]  David M. Herrington,et al.  Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction , 2014, Nature.

[53]  J. Kastelein,et al.  Ten-year follow-up after initiation of statin therapy in children with familial hypercholesterolemia. , 2014, JAMA.

[54]  J. Borén,et al.  Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society , 2014, European heart journal.

[55]  Z. Ademi,et al.  Cascade screening based on genetic testing is cost-effective: evidence for the implementation of models of care for familial hypercholesterolemia. , 2014, Journal of clinical lipidology.

[56]  J. Knowles,et al.  Underutilization of cascade screening for familial hypercholesterolemia , 2014 .

[57]  A. Sturm.  The Role of Genetic Counselors for Patients with Familial Hypercholesterolemia , 2014, Current Genetic Medicine Reports.

[58]  D. Rader,et al.  Lomitapide and mipomersen: two first-in-class drugs for reducing low-density lipoprotein cholesterol in patients with homozygous familial hypercholesterolemia. , 2014, Circulation.

[59]  S. Yamashita,et al.  Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation. , 2014, International journal of cardiology.

[60]  S. Gabriel,et al.  Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia , 2013, Arteriosclerosis, thrombosis, and vascular biology.

[61]  S. Humphries,et al.  Clinical utility gene card for: Hyperlipoproteinemia, TYPE II , 2013, European Journal of Human Genetics.

[62]  N. Seidah,et al.  APOE p.Leu167del mutation in familial hypercholesterolemia. , 2013, Atherosclerosis.

[63]  Catherine Boileau,et al.  Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease , 2013, European heart journal.

[64]  L. Game,et al.  Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia , 2013, Molecular genetics & genomic medicine.

[65]  Sonia Shah,et al.  Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study , 2013, The Lancet.

[66]  R. Fresa,et al.  Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. , 2013, Atherosclerosis.

[67]  M. Porteous,et al.  How do index patients participating in genetic screening programmes for familial hypercholesterolemia (FH) interpret their DNA results? A UK-based qualitative interview study. , 2013, Patient education and counseling.

[68]  S. Humphries,et al.  Statin treatment of children with familial hypercholesterolemia--trying to balance incomplete evidence of long-term safety and clinical accountability: are we approaching a consensus? , 2013, Atherosclerosis.

[69]  G. Watts,et al.  Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication. , 2012, The Journal of clinical endocrinology and metabolism.

[70]  T. van der Weijden,et al.  Being at risk for cardiovascular disease: Perceptions and preventive behavior in people with and without a known genetic predisposition , 2012, Psychology, health & medicine.

[71]  S. Gabriel,et al.  Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia. , 2012, European heart journal.

[72]  J. Kastelein,et al.  Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia: A Cross-Sectional Study in 26 406 Individuals Tested for Genetic FH , 2012, Circulation. Cardiovascular genetics.

[73]  J. Kastelein,et al.  Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL‐Cl Levels , 2012, Human mutation.

[74]  J. Emery,et al.  Familial hypercholesterolaemia: a model of care for Australasia. , 2011, Atherosclerosis. Supplements.

[75]  F. Chaves,et al.  Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family. , 2011, Atherosclerosis.

[76]  Michael J Ackerman,et al.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). , 2011, Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology.

[77]  H. Calkins,et al.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). , 2011, Heart rhythm.

[78]  M Thorogood,et al.  Probabilistic cost-effectiveness analysis of cascade screening for familial hypercholesterolaemia using alternative diagnostic and identification strategies , 2011, Heart.

[79]  J. Kastelein,et al.  Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children , 2011, Circulation.

[80]  Tanya M. Teslovich,et al.  Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids , 2010, Nature.

[81]  J. Fajkus,et al.  Genomic characterization of large rearrangements of the LDLR gene in Czech patients with familial hypercholesterolemia , 2010, BMC Medical Genetics.

[82]  S. G. Hadfield,et al.  Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project , 2010, Clinical genetics.

[83]  S. Humphries,et al.  Multiplex ligation‐dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia , 2009, Clinical genetics.

[84]  S. G. Hadfield,et al.  Family tracing to identify patients with Familial Hypercholesterolaemia: the second Audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project , 2009, Annals of clinical biochemistry.

[85]  A. Wilde,et al.  Predictive genetic testing for cardiovascular diseases: Impact on carrier children , 2008, American journal of medical genetics. Part A.

[86]  J. Witteman,et al.  Efficacy of statins in familial hypercholesterolaemia: a long term cohort study , 2008, BMJ : British Medical Journal.

[87]  S. Humphries,et al.  Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study , 2008, European heart journal.

[88]  S. Humphries,et al.  What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia? , 2008, Current opinion in lipidology.

[89]  S. Humphries,et al.  Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing , 2008, Clinical chemistry and laboratory medicine.

[90]  A. Wilde,et al.  Health‐related quality of life of children with a positive carrier status for inherited cardiovascular diseases , 2008, American journal of medical genetics. Part A.

[91]  K. Berge,et al.  Diagnosis of Familial Hypercholesterolemia in General Practice Using Clinical Diagnostic Criteria or Genetic Testing as Part of Cascade Genetic Screening , 2008, Public Health Genomics.

[92]  D. Wald,et al.  Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis , 2007, BMJ : British Medical Journal.

[93]  S. Humphries,et al.  Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk , 2006, Journal of Medical Genetics.

[94]  S. Horswell,et al.  Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene: Long-Term Follow-Up and Treatment Response , 2005, Arteriosclerosis, thrombosis, and vascular biology.

[95]  T. Leren,et al.  Cascade genetic screening for familial hypercholesterolemia , 2004, Clinical genetics.

[96]  G. Dedoussis,et al.  LDL‐receptor mutations in Europe , 2004, Human mutation.

[97]  Carolyn M Hutter,et al.  Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. , 2004, American journal of epidemiology.

[98]  S. Humphries,et al.  Psychological impact of genetic testing for familial hypercholesterolemia within a previously aware population: A randomized controlled trial , 2004, American journal of medical genetics. Part A.

[99]  S. Humphries,et al.  Effect of statin treatment for familial hypercholesterolaemia on life assurance: results of consecutive surveys in 1990 and 2002 , 2004, BMJ : British Medical Journal.

[100]  J. Kastelein,et al.  Advanced method for the identification of patients with inherited hypercholesterolemia. , 2004, Seminars in vascular medicine.

[101]  T. Leren,et al.  Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program. , 2004, Seminars in vascular medicine.

[102]  J. Kastelein,et al.  Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. , 2004, Seminars in vascular medicine.

[103]  R. Kim,et al.  Organic anion‐transporting polypeptide (OATP) transporter family and drug disposition , 2003, European journal of clinical investigation.

[104]  H. Daida,et al.  [Coronary artery disease]. , 2003, Nihon rinsho. Japanese journal of clinical medicine.

[105]  J. Weissenbach,et al.  Mutations in PCSK9 cause autosomal dominant hypercholesterolemia , 2003, Nature Genetics.

[106]  J. Kastelein,et al.  Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemia. , 2003, Archives of internal medicine.

[107]  O. Descamps,et al.  Impact of genetic defects on coronary atherosclerosis in patients suspected of having familial hypercholesterolaemia , 2003, European journal of clinical investigation.

[108]  J. Defesche,et al.  Parental attitude towards genetic testing for familial hypercholesterolaemia in children , 2002, Journal of medical genetics.

[109]  Margaret Thorogood,et al.  Cost effectiveness analysis of different approaches of screening for familial hypercholesterolaemia , 2002, BMJ : British Medical Journal.

[110]  E. Sijbrands,et al.  Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands , 2001, The Lancet.

[111]  J. Miller,et al.  Outcome of case finding among relatives of patients with known heterozygous familial hypercholesterolaemia , 2000, BMJ : British Medical Journal.

[112]  N. Grishin,et al.  Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. , 2000, Science.

[113]  C. Junien,et al.  R3531C Mutation in the Apolipoprotein B Gene Is Not Sufficient to Cause Hypercholesterolemia , 2000, Arteriosclerosis, thrombosis, and vascular biology.

[114]  P. Schnohr,et al.  Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease. , 1998, The New England journal of medicine.

[115]  S. Forbes,et al.  Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. , 1997, Genomics.

[116]  Weiqun,et al.  Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity. , 1995, The Journal of clinical investigation.

[117]  N. B. Myant.  Familial defective apolipoprotein B-100: a review, including some comparisons with familial hypercholesterolaemia. , 1993, Atherosclerosis.

[118]  Risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. , 1991, BMJ.

[119]  J. Verter,et al.  Coronary Artery Disease in 116 Kindred with Familial Type II Hyperlipoproteinemia , 1974, Circulation.

[120]  J. Slack.  RISKS OF ISCHÆMIC HEART-DISEASE IN FAMILIAL HYPERLIPOPROTEINÆMIC STATES , 1969 .

[121]  G. Watts,et al.  Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia. , 2017, Journal of clinical lipidology.

[122]  M. Porteous,et al.  A qualitative study of patients’ perceptions of the value of molecular diagnosis for familial hypercholesterolemia (FH) , 2016, Journal of Community Genetics.

[123]  Jedrek Wosik,et al.  Premature coronary heart disease and autosomal dominant hypercholesterolemia: Increased risk in women with LDLR mutations. , 2016, Journal of clinical lipidology.

[124]  J. Cigarroa,et al.  Further Evolution of the ACC/AHA Clinical Practice Guideline Recommendation Classification System: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. , 2016, Journal of the American College of Cardiology.

[125]  Sonia Shah,et al.  Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries. , 2015, Clinical chemistry.

[126]  S. Kihara,et al.  Coronary artery disease. Executive summary of the Japan Atherosclerosis Society (JAS) guidelines for the diagnosis and prevention of atherosclerotic cardiovascular diseases in Japan--2012 version. , 2014, Journal of atherosclerosis and thrombosis.

[127]  A. Devereau,et al.  Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics . , 2013 .

[128]  S. Kihara,et al.  Treatment B) drug therapy: executive summary of the Japan Atherosclerosis Society(JAS) guidelines for the diagnosis and prevention of atherosclerotic cardiovascular diseases in Japan--2012 version. , 2013, Journal of atherosclerosis and thrombosis.

[129]  A. Culyer,et al.  Screening for hypercholesterolaemia versus case finding for familial hypercholesterolaemia: a systematic review and cost-effectiveness analysis. , 2000, Health technology assessment.

[130]  Mortality in treated heterozygous familial hypercholesterolaemia: implications for clinical management. Scientific Steering Committee on behalf of the Simon Broome Register Group. , 1999, Atherosclerosis.