Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database

Publication
Canadian Cardiovascular Society Position Statement on Familial Hypercholesterolemia: Update 2018. Brunham Liam R et al. The Canadian journal of cardiology 2018 Dec 34(12) 1553-1563 Similar articles in PubMed
A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing. Krahn Martin et al. European journal of human genetics : EJHG 2018 Dec Similar articles in PubMed
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria N Longo et al, Genetics in Medicine, December 14, 2018
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes. Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov Similar articles in PubMed
European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer. Rutgers Emiel et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10645-53 Similar articles in PubMed
No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer. Jacobson Michelle et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1497-1510 Similar articles in PubMed
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations. Singer Christian F et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10654-60 Similar articles in PubMed
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency. Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21 Similar articles in PubMed
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion. Stoffel Elena M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Nov JCO1801489 Similar articles in PubMed
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia. Newson Ainsley J et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2018 Nov 1-5 Similar articles in PubMed
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for thiopurine dosing based on TPMT and NUDT15 genotypes: 2018 update. Relling Mary V et al. Clinical pharmacology and therapeutics 2018 Nov Similar articles in PubMed
South African dyslipidaemia guideline consensus statement: 2018 update A joint statement from the South African Heart Association (SA Heart) and the Lipid and Atherosclerosis Society of Southern Africa (LASSA). Klug E et al. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2018 Oct 108(11b) 973-1000 Similar articles in PubMed
Development of Criteria for Epilepsy Genetic Testing in Ontario, Canada. Jain Puneet et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018 Nov 1-7 Similar articles in PubMed
Ehlers-Danlos syndromes: state of the art on clinical practice guidelines. Sulli Alberto et al. RMD open 2018 4(Suppl 1) e000790 Similar articles in PubMed
Systemic sclerosis: state of the art on clinical practice guidelines. Smith Vanessa et al. RMD open 2018 4(Suppl 1) e000782 Similar articles in PubMed
The Japanese Society of Pathology Guidelines on the handling of pathological tissue samples for genomic research: Standard operating procedures based on empirical analyses. Kanai Yae et al. Pathology international 2018 Feb 68(2) 63-90 Similar articles in PubMed
Revised Australian national guidelines for colorectal cancer screening: family history. Jenkins Mark A et al. The Medical journal of Australia 2018 Oct Similar articles in PubMed
Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer. Emons Günter et al. Geburtshilfe und Frauenheilkunde 2018 Oct 78(10) 949-971 Similar articles in PubMed
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease. Soroka Steven et al. Canadian journal of kidney health and disease 2018 52054358118801589 Similar articles in PubMed
Screening and surveillance in hereditary gastrointestinal cancers: Recommendations from the European Society of Digestive Oncology (ESDO) expert discussion at the 20th European Society for Medical Oncology (ESMO)/World Congress on Gastrointestinal Cancer, Barcelona, June 2018. Vangala Deepak B et al. European journal of cancer (Oxford, England : 1990) 2018 Oct 10491-103 Similar articles in PubMed
Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics. Carrieri Daniele et al. European journal of human genetics : EJHG 2018 Oct Similar articles in PubMed
Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Zhang Shulin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct Similar articles in PubMed
Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation. Kemper Alex R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 19(1) 121-126 Similar articles in PubMed
Updated recommendation for the benign stand-alone ACMG/AMP criterion. Ghosh Rajarshi et al. Human mutation 2018 Nov 39(11) 1525-1530 Similar articles in PubMed
Brazilian Guidelines for Hereditary Angioedema Management - 2017 Update Part 1: Definition, Classification and Diagnosis. Giavina-Bianchi Pedro et al. Clinics (Sao Paulo, Brazil) 2018 73e310 Similar articles in PubMed
Recommendations on prevention and screening for colorectal cancer in Hong Kong. Lam T H et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Oct 24(5) 521-526 Similar articles in PubMed
Providing clinicians and patients with important information to help guide decisions about prostate cancer screening. USPSTF, October 8, 2018
[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition]. Moretta Jessica et al. Bulletin du cancer 2018 Sep Similar articles in PubMed
ACOG Committee Opinion No. 755: Well-Woman Visit. et al. Obstetrics and gynecology 2018 Oct 132(4) e181-e186 Similar articles in PubMed
European guidelines for constitutional cytogenomic analysis. Silva Marisa et al. European journal of human genetics : EJHG 2018 Oct Similar articles in PubMed
The UK guidelines for management and surveillance of Tuberous Sclerosis Complex. Amin S et al. QJM : monthly journal of the Association of Physicians 2018 Sep Similar articles in PubMed
Clinical practice guideline. Diagnosis and prevention of colorectal cancer. 2018 Update. Cubiella Joaquín et al. Gastroenterologia y hepatologia 2018 Sep Similar articles in PubMed
Optimizing use of existing prenatal genetic tests: Screening and diagnostic testing for aneuploidy. Stoll Katie et al. Seminars in perinatology 2018 Jul Similar articles in PubMed
Management of Prader-Willi Syndrome (PWS) in adults - what an endocrinologist needs to know. Recommendations of the Polish Society of Endocrinology and the Polish Society of Paediatric Endocrinology and Diabetology. Góralska Magdalena et al. Endokrynologia Polska 2018 69(4) Similar articles in PubMed
Chronic Myeloid Leukemia, Version 1.2019, NCCN Clinical Practice Guidelines in Oncology. Radich Jerald P et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Sep 16(9) 1108-1135 Similar articles in PubMed
Disclosure of sex when incidentally revealed as part of preimplantation genetic testing (PGT): an Ethics Committee opinion. et al. Fertility and sterility 2018 Sep 110(4) 625-627 Similar articles in PubMed
Clinical practice guidance for next-generation sequencing in cancer diagnosis and treatment (Edition 1.0). Sunami Kuniko et al. Cancer science 2018 Sep 109(9) 2980-2985 Similar articles in PubMed
Does cardiology hold pharmacogenetics to an inconsistent standard? A comparison of evidence among recommendations. Luzum Jasmine A et al. Pharmacogenomics 2018 Sep Similar articles in PubMed
Final Recommendation Statement Cervical Cancer Screening, U.S. Preventative Services Task Force, August 2018
Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms (CMNs): A Report of the Association for Molecular Pathology. McClure Rebecca F et al. The Journal of molecular diagnostics : JMD 2018 Aug Similar articles in PubMed
Clinical Practice Guideline on Screening for Colorectal Cancer in individuals with a Family History of Nonhereditary Colorectal Cancer or Adenoma: The Canadian Association of Gastroenterology Banff Consensus. Leddin Desmond et al. Gastroenterology 2018 Aug Similar articles in PubMed
Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the American College of Medical Genetics and Genomics. , et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 8 0. Similar articles in PubMed
Consensus Statement of the Indian Academy of Pediatrics in Diagnosis and Management of Hemophilia. Sachdeva Anupam et al. Indian pediatrics 2018 Jul 55(7) 582-590 Similar articles in PubMed
Consensus on BCR-ABL1 reporting in chronic myeloid leukaemia in the UK. Cross Nicholas C P et al. British journal of haematology 2018 Aug Similar articles in PubMed
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations. Pujol Pascal et al. European journal of human genetics : EJHG 2018 Aug Similar articles in PubMed
The Cardiovascular Burden of Undiagnosed Familial Hypercholesterolemia: Need to Modify Guidelines to Encourage Earlier Diagnosis and Therapy. McPherson Ruth et al. The Canadian journal of cardiology 2018 Jul Similar articles in PubMed
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel. Sturm Amy C et al. Journal of the American College of Cardiology 2018 Aug 72(6) 662-680 Similar articles in PubMed
Screening for Atrial Fibrillation With Electrocardiography: US Preventive Services Task Force Recommendation Statement. et al. JAMA 2018 Aug 320(5) 478-484 Similar articles in PubMed
Management guidelines for paediatric patients receiving chimeric antigen receptor T cell therapy. Mahadeo Kris M et al. Nature reviews. Clinical oncology 2018 Aug Similar articles in PubMed
Recommendations for the diagnosis and treatment of patients with polycythaemia vera. Hatalova Antonia et al. European journal of haematology 2018 Jul Similar articles in PubMed
Medical Devices; Immunology and Microbiology Devices; Classification of the Next Generation Sequencing Based Tumor Profiling Test. Final order. et al. Federal register 2018 Jun 83(121) 28994-6 Similar articles in PubMed
Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Medeiros Domingo Argelia et al. Swiss medical weekly 2018 148w14638 Similar articles in PubMed
Identification of Germline Variants in Tumor Genomic Sequencing Analysis. Montgomery Nathan D et al. The Journal of molecular diagnostics : JMD 2018 Jan 20(1) 123-125 Similar articles in PubMed
Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel. Ference Brian A et al. European heart journal 2017 Aug 38(32) 2459-2472 Similar articles in PubMed
Medical Devices; Hematology and Pathology Devices; Classification of Lynch Syndrome Test Systems. Final order. et al. Federal register 2018 Feb 83(39) 8355-7 Similar articles in PubMed
Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Kline Antonie D et al. Nature reviews. Genetics 2018 Jul Similar articles in PubMed
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Stewart Douglas R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul 20(7) 671-682 Similar articles in PubMed
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 "DSDnet". Audí Laura et al. European journal of endocrinology 2018 Jul Similar articles in PubMed
Identification and diagnosis of patients with familial chylomicronaemia syndrome (FCS): Expert panel recommendations and proposal of an "FCS score". Moulin Philippe et al. Atherosclerosis 2018 Jun 275265-272 Similar articles in PubMed
Systemic Therapy for Patients With Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer: ASCO Clinical Practice Guideline Update. Giordano Sharon H et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jun JCO2018792697 Similar articles in PubMed
Risk Assessment for Cardiovascular Disease With Nontraditional Risk Factors - US Preventive Services Task Force Recommendation Statement JAMA, July 10, 2018
Expert consensus guidelines for the genetic diagnosis of Alport syndrome. Savige Judy et al. Pediatric nephrology (Berlin, Germany) 2018 Jul Similar articles in PubMed
The biology of cutaneous neurofibromas: Consensus recommendations for setting research priorities. Brosseau Jean-Philippe et al. Neurology 2018 Jul 91(2 Supplement 1) S14-S20 Similar articles in PubMed
Management of Ventricular Arrhythmias and Sudden Cardiac Death Risk Associated With Cardiac Channelopathies. Al-Khatib Sana M et al. JAMA cardiology 2018 Jun Similar articles in PubMed
Recommendations on prevention and screening for breast cancer in Hong Kong. Lam T H et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Jun 24(3) 298-306 Similar articles in PubMed
Recommendations on Disease Management for Patients With Advanced Human Epidermal Growth Factor Receptor 2-Positive Breast Cancer and Brain Metastases: ASCO Clinical Practice Guideline Update. Ramakrishna Naren et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jun JCO2018792713 Similar articles in PubMed
Ethical Guidelines for Genomic Research in Africa. Friedrich M J et al. JAMA 2018 Jun 319(23) 2371 Similar articles in PubMed
Screening for Osteoporosis to Prevent Fractures: US Preventive Services Task Force Recommendation Statement. et al. JAMA 2018 Jun 319(24) 2521-2531 Similar articles in PubMed
Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion. et al. Fertility and sterility 2018 Jun 109(6) 989-992 Similar articles in PubMed
Guidelines for the investigation and management of Transient Leukaemia of Down Syndrome. Tunstall Oliver et al. British journal of haematology 2018 Jun Similar articles in PubMed
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M). Chabrol B et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2018 Jun Similar articles in PubMed
Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Hershberger Ray E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun Similar articles in PubMed
Recommendations on Collecting and Storing Samples for Genetic Studies in Hearing and Tinnitus Research. Szczepek Agnieszka J et al. Ear and hearing 2018 Jun Similar articles in PubMed
Japanese Society of Medical Oncology Clinical Guidelines: Molecular Testing for Colorectal Cancer Treatment, Third Edition. Yamazaki Kentaro et al. Cancer science 2018 Jun 109(6) 2074-2079 Similar articles in PubMed
Pharmacogenetic testing in the Veterans Health Administration (VHA): policy recommendations from the VHA Clinical Pharmacogenetics Subcommittee. Vassy Jason L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun Similar articles in PubMed
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline. Muiño-Mosquera Laura et al. Circulation. Genomic and precision medicine 2018 Jun 11(6) e002039 Similar articles in PubMed
IASLC Statement Paper: Liquid Biopsy for Advanced Non-Small Cell Lung Cancer (NSCLC). Rolfo Christian et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Jun Similar articles in PubMed
Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017. Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2018 Jun Similar articles in PubMed
Colorectal cancer screening for average-risk adults: 2018 guideline update from the American Cancer Society. Wolf Andrew M D, et al. CA: a cancer journal for clinicians 2018 5 0. Similar articles in PubMed
Systematic evaluation of clinical practice guidelines for pharmacogenomics. Beckett Robert D et al. Pharmacogenomics 2018 Jun 19(8) 693-700 Similar articles in PubMed
Molecular Testing Guideline for the Selection of Patients With Lung Cancer for Targeted Therapy. Copur Mehmet Sitki et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 May JCO2018788240 Similar articles in PubMed
NCCN Guidelines Updates: Prostate Cancer and Prostate Cancer Early Detection. Carroll Peter H et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 May 16(5S) 620-623 Similar articles in PubMed
Molecular testing in holoprosencephaly. Kruszka Paul et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 May Similar articles in PubMed
Updated Genetics Guidelines: An Important Step Forward. Hauptman Paul J et al. Journal of cardiac failure 2018 May 24(5) 279-280 Similar articles in PubMed
Practical consensus recommendations on management of HR + ve early breast cancer with specific reference to genomic profiling. Aggarwal S et al. South Asian journal of cancer 7(2) 96-101 Similar articles in PubMed
Screening for Prostate Cancer: US Preventive Services Task Force Recommendation Statement. , et al. JAMA 2018 0 0. (18) 1901-1913 Similar articles in PubMed
Evidence-based best practices for EGFR T790M testing in lung cancer in Canada. Stockley T et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) 163-169 Similar articles in PubMed
The AHRQ National Guideline Clearinghouse (NGC, guideline.gov) Web site will not be available after July 16, 2018 National Guideline Clearinghouse, April 30, 2018
The decision to discontinue screening for carnitine uptake disorder in New Zealand. Wilson Callum et al. Journal of inherited metabolic disease 2018 Apr Similar articles in PubMed
Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group. Taylor Amy et al. Journal of medical genetics 2018 Apr Similar articles in PubMed
[Beckwith-Wiedemann Syndrome (BWS) Current Status of Diagnosis and Clinical Management: Summary of the First International Consensus Statement]. Elbracht Miriam et al. Klinische Padiatrie 2018 Apr Similar articles in PubMed
Consensus clinical management guidelines for Niemann-Pick disease type C. Geberhiwot Tarekegn et al. Orphanet journal of rare diseases 2018 Apr 13(1) 50 Similar articles in PubMed
Treatment Algorithm for Infants Diagnosed with Spinal Muscular Atrophy through Newborn Screening. Glascock Jacqueline et al. Journal of neuromuscular diseases 2018 Mar Similar articles in PubMed
Genotyping Guidance AMP releases guidelines for cytochrome P450 allele testing  The Pathologist, Apr 2018
[Consensus statement on biomarkers in breast cancer by the Spanish Society of Pathology and the Spanish Society of Medical Oncology]. Palacios Calvo José et al. Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia 51(2) 97-109 Similar articles in PubMed
The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. et al. Fertility and sterility 2018 Mar 109(3) 429-436 Similar articles in PubMed
Genetic Evaluation of Cardiomyopathy - a Heart Failure Society of America Practice Guideline. Hershberger Ray E et al. Journal of cardiac failure 2018 Mar Similar articles in PubMed
Recommendations for Surveillance for Children with Leukemia-Predisposing Conditions. Porter Christopher C et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e14-e22 Similar articles in PubMed
Pediatric clinical exome/genome sequencing and the engagement process: encouraging active conversation with the older child and adolescent: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG). Bush Lynn W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar Similar articles in PubMed
The ACMG/AMP reputable source criteria for the interpretation of sequence variants. Biesecker Leslie G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Mar Similar articles in PubMed