Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database|Search|PHGKB

Genomics and Precision Health Database

Publication
European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. van de Laar Ingrid M B H et al. Orphanet journal of rare diseases 2019 Nov 14(1) 264 Similar articles in PubMed
Guidelines for performing Mendelian randomization investigations [version 1; peer review: awaiting peer review] S Burgess et al, Wellcome Trust Open, November 2019
Guidelines for performing Mendelian randomization investigations [version 1; peer review: awaiting peer review] S Burgess et al, Wellcome Trust Open, November 2019
Impact of the 2018 ASCO/CAP guidelines on HER2 fluorescence in situ hybridization interpretation in invasive breast cancers with immunohistochemically equivocal results. Wang Bo et al. Scientific reports 2019 Nov 9(1) 16726 Similar articles in PubMed
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG). Bean Lora J H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov Similar articles in PubMed
Evaluation of current regulation and guidelines of pharmacogenomic drug labels; opportunities for improvements. Shekhani Rawan et al. Clinical pharmacology and therapeutics 2019 Nov Similar articles in PubMed
Diagnostic gene sequencing panels: from design to report—a technical standard of the American College of Medical Genetics and Genomics (ACMG) LH Bean et al, Genetics in Medicine, November 16, 2019
The Diagnosis and Management of Lipodystrophy Syndromes: A Multi-Society Practice Guideline. Brown Rebecca J et al. The Journal of clinical endocrinology and metabolism 2016 101(12) 4500-4511 Similar articles in PubMed
ESMO consensus conference on malignant lymphoma: general perspectives and recommendations for prognostic tools in mature B-cell lymphomas and chronic lymphocytic leukaemia. Ladetto M et al. Annals of oncology : official journal of the European Society for Medical Oncology 2016 27(12) 2149-2160 Similar articles in PubMed
Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. Stevens Scott M et al. Journal of thrombosis and thrombolysis 2016 Jan 41(1) 154-64 Similar articles in PubMed
[Recommendations for management of dyslipidemia in 2016 in Switzerland]. Aubert Carole E et al. Revue medicale suisse 2016 Mar 12(508) 430-4 Similar articles in PubMed
[PCSK9 inhibitors - new possibilities in the treatment of hypercholesterolemia: For which patients will be indicated?Czech atherosclerosis society statement]. Soška Vladimír et al. Vnitrni lekarstvi 2016 Apr 62(4) 329-33 Similar articles in PubMed
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Palomaki Glenn E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov Similar articles in PubMed
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Riggs Erin Rooney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov Similar articles in PubMed
Healthcare recommendations for Joubert syndrome. Bachmann-Gagescu Ruxandra et al. American journal of medical genetics. Part A 2019 Nov Similar articles in PubMed
Guidelines for the management of hereditary colorectal cancer from the BSG /ACPGBI/UKCGG British Society Gastroenterology, October 2019
International consensus on the use of genetics in the management of hereditary angioedema. Germenis Anastasios E et al. The journal of allergy and clinical immunology. In practice 2019 Oct Similar articles in PubMed
Comparison of 21-gene assay and St.Gallen International Expert Consensus in the treatment decision for patients with early invasive breast cancers. Luo Ming et al. Cancer biology & therapy 2019 Oct 1-5 Similar articles in PubMed
Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium. Goggins Michael et al. Gut 2019 Oct Similar articles in PubMed
Position Statement on Direct to Consumer Genetic Testing Royal College of General Practitioners, November 2019
NCCN Guidelines Insights: Non-Small Cell Lung Cancer, Version 5.2018. Ettinger David S et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 16(7) 807-821 Similar articles in PubMed
[ECS guidelines 2016 - dyslipidaemias]. Sinning D et al. Herz 2016 Dec 41(8) 671-676 Similar articles in PubMed
ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants. Luo Xi et al. Blood advances 2019 Oct 3(20) 2962-2979 Similar articles in PubMed
Standardizing CYP2D6 Genotype to Phenotype Translation: Consensus Recommendations from the Clinical Pharmacogenetics Implementation Consortium and Dutch Pharmacogenetics Working Group. Caudle Kelly E et al. Clinical and translational science 2019 Oct Similar articles in PubMed
Orbital/Periorbital Plexiform Neurofibromas in Children with Neurofibromatosis Type 1: Multidisciplinary Recommendations for Care. Avery Robert A et al. Ophthalmology 2017 124(1) 123-132 Similar articles in PubMed
Veno-occlusive disease/sinusoidal obstruction syndrome after haematopoietic stem cell transplantation: Middle East/North Africa regional consensus on prevention, diagnosis and management. Al Jefri A H et al. Bone marrow transplantation 2017 Apr 52(4) 588-591 Similar articles in PubMed
A consensus statement on lipid management after acute coronary syndrome. Schiele Fran?ois et al. European heart journal. Acute cardiovascular care 2018 Sep 7(6) 532-543 Similar articles in PubMed
Society of Toxicologic Pathology Digital Pathology and Image Analysis Special Interest Group Article*: Opinion on the Application of Artificial Intelligence and Machine Learning to Digital Toxicologic Pathology. Turner Oliver C et al. Toxicologic pathology 2019 Oct 192623319881401 Similar articles in PubMed
Current recommendations for prostate cancer genetic testing: NCCN prostate guideline. Mohler James L et al. The Canadian journal of urology 2019 Oct 26(5S2) 34-37 Similar articles in PubMed
Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian. Daly Mary B et al. The Canadian journal of urology 2019 Oct 26(5S2) 29-30 Similar articles in PubMed
The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force. Southall Noel T et al. Orphanet journal of rare diseases 2019 Oct 14(1) 225 Similar articles in PubMed
Contemporary prognostic indicators for prostate cancer incorporating International Society of Urological Pathology recommendations. Egevad Lars et al. Pathology 2018 Jan 50(1) 60-73 Similar articles in PubMed
[Genital herpes and pregnancy: Serological and molecular diagnostic tools. Guidelines for clinical practice from the French College of Gynecologists and Obstetricians (CNGOF)]. Vauloup-Fellous C et al. Gynecologie, obstetrique, fertilite & senologie 2017 Dec 45(12) 655-663 Similar articles in PubMed
Updated guidelines for predictive biomarker testing in advanced non-small-cell lung cancer: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. Garrido P et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 Oct Similar articles in PubMed
Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline. van Leerdam Monique E et al. Endoscopy 2019 Oct Similar articles in PubMed
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Gravholt Claus H et al. European journal of endocrinology 2017 177(3) G1-G70 Similar articles in PubMed
Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology. Oaknin A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2018 Mar 20(3) 274-285 Similar articles in PubMed
Guidelines for Pathologic Diagnosis of Malignant Mesothelioma 2017 Update of the Consensus Statement From the International Mesothelioma Interest Group. Husain Aliya Noor et al. Archives of pathology & laboratory medicine 2018 Jan 142(1) 89-108 Similar articles in PubMed
Clinical Consensus Guidelines on the Application of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease Diagnosis: Recommendations of the Irish Network for Biomarkers in Neurodegeneration. Miller A M et al. Irish medical journal 2016 Dec 109(10) 483 Similar articles in PubMed
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123 Similar articles in PubMed
2017 Focused Update of the 2016�ACC�Expert Consensus Decision Pathway on the Role of Non-Statin Therapies for LDL-Cholesterol Lowering in�the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways. Lloyd-Jones Donald M et al. Journal of the American College of Cardiology 2017 Oct 70(14) 1785-1822 Similar articles in PubMed
[Diagnostics of malignant melanoma of the skin : Recommendations of the current S3 guidelines on histology and molecular pathology]. Rose C et al. Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete 2017 Sep 68(9) 749-761 Similar articles in PubMed
[Interpretation of the updates of NCCN 2017 version 1.0 guideline for colorectal cancer]. Chen Gong et al. Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery 2017 Jan 20(1) 28-33 Similar articles in PubMed
Update on Prenatal Laboratory Screening: Joint Commission Required Elements. Tepper Jared L et al. NeoReviews 2019 Oct 20(10) e584-e591 Similar articles in PubMed
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome-first report of an ad hoc task force. Rinaldi Berardo et al. Orphanet journal of rare diseases 2017 12(1) 69 Similar articles in PubMed
Role of Biomarkers for the Prevention, Assessment, and Management of Heart Failure: A Scientific Statement From the American Heart Association. Chow Sheryl L et al. Circulation 2017 May 135(22) e1054-e1091 Similar articles in PubMed
Fit-For-Purpose PD-L1 Biomarker Testing For Patient Selection in Immuno-Oncology: Guidelines For Clinical Laboratories From the Canadian Association of Pathologists-Association Canadienne Des Pathologistes (CAP-ACP). Cheung Carol C et al. Applied immunohistochemistry & molecular morphology : AIMM 2019 Oct Similar articles in PubMed
Late Effects Screening Guidelines after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement From the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects After Pediatric HCT. Dietz Andrew C et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Sep 23(9) 1422-1428 Similar articles in PubMed
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE - EXECUTIVE SUMMARY Complete Appendix to Guidelines available at http://journals.aace.com . Jellinger Paul S et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Apr 23(4) 479-497 Similar articles in PubMed
European Society Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for Diagnosing Coeliac Disease 2019. Husby Steffen et al. Journal of pediatric gastroenterology and nutrition 2019 Sep Similar articles in PubMed
Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel. Akers Amy et al. Neurosurgery 2017 May 80(5) 665-680 Similar articles in PubMed
AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS AND AMERICAN COLLEGE OF ENDOCRINOLOGY GUIDELINES FOR MANAGEMENT OF DYSLIPIDEMIA AND PREVENTION OF CARDIOVASCULAR DISEASE. Jellinger Paul S et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2017 Apr 23(Suppl 2) 1-87 Similar articles in PubMed
How to implement clinical guidelines to optimise familial hypercholesterolaemia diagnosis and treatment. Farnier Michel et al. Atherosclerosis. Supplements 2017 Apr 2625-35 Similar articles in PubMed
Vascular diseases of the liver. Clinical Guidelines from the Catalan Society of Digestology and the Spanish Association for the Study of the Liver. Martín-Llahí Marta et al. Gastroenterologia y hepatologia 2017 Oct 40(8) 538-580 Similar articles in PubMed
UK clinical practice guidelines for the management of gastrointestinal stromal tumours (GIST). Judson Ian et al. Clinical sarcoma research 2017 76 Similar articles in PubMed
No. 344-Opportunistic Salpingectomy and Other Methods of Risk Reduction for Ovarian/Fallopian Tube/Peritoneal Cancer in the General Population. Salvador Shannon et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2017 Jun 39(6) 480-493 Similar articles in PubMed
Ethics of artificial intelligence in radiology: summary of the joint European and North American multisociety statement. Geis J Raymond et al. Insights into imaging 2019 Oct 10(1) 101 Similar articles in PubMed
Ethics of Artificial Intelligence in Radiology: Summary of the Joint European and North American Multisociety Statement. Geis J Raymond et al. Radiology 2019 191586 Similar articles in PubMed
Consensus Statement on Circulating Biomarkers for Advanced Prostate Cancer. Sumanasuriya Semini et al. European urology oncology 2018 1(2) 151-159 Similar articles in PubMed
Breast Cancer Chemoprevention: A Practical Guide for the Primary Care Provider. Farkas Amy et al. Journal of women's health (2002) 2019 Sep Similar articles in PubMed
Indian Society of Neuro-Oncology consensus guidelines for the contemporary management of medulloblastoma. Gupta Tejpal et al. Neurology India 65(2) 315-332 Similar articles in PubMed
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer. Durno Carol et al. The American journal of gastroenterology 2017 112(5) 682-690 Similar articles in PubMed
PharmVar GeneReview: CYP2D6. Nofziger Charity et al. Clinical pharmacology and therapeutics 2019 Sep Similar articles in PubMed
[Diagnostics of malignant melanoma of the skin : Recommendations of the current S3 guidelines on histology and molecular pathology]. Rose C et al. Der Pathologe 2017 Feb 38(1) 49-61 Similar articles in PubMed
Updated Expert Consensus Statement on Platelet Function and Genetic Testing for Guiding P2Y 12 Receptor Inhibitor Treatment in PCI. Pauley Eric D et al. JACC. Cardiovascular interventions 2019 Sep 12(18) 1867 Similar articles in PubMed
EASL 2017 Clinical Practice Guidelines on the management of hepatitis B virus infection. et al. Journal of hepatology 2017 67(2) 370-398 Similar articles in PubMed
Clinical management of cutaneous adverse events in patients on targeted anticancer therapies and immunotherapies: a national consensus statement by the Spanish Academy of Dermatology and Venereology and the Spanish Society of Medical Oncology. Gr?valos C et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 May 21(5) 556-571 Similar articles in PubMed
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Colorectal, Version 2.2019. Gupta Samir et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 Sep 17(9) 1032-1041 Similar articles in PubMed
Human Papillomavirus Testing in Head and Neck Carcinomas: ASCO Clinical Practice Guideline Endorsement of the College of American Pathologists Guideline. Fakhry Carole et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 36(31) 3152-3161 Similar articles in PubMed
European Myeloma Network recommendations on tools for the diagnosis and monitoring of multiple myeloma: what to use and when. Caers Jo et al. Haematologica 2018 Nov 103(11) 1772-1784 Similar articles in PubMed
Medication Use to Reduce Risk of Breast Cancer: US Preventive Services Task Force Recommendation Statement. , et al. JAMA 2019 0 0. (9) 857-867 Similar articles in PubMed
Turkish Society of Cardiology consensus report on recommendations for athletes with high-risk genetic cardiovascular diseases or implanted cardiac devices. ?zel Erdem et al. Anatolian journal of cardiology 2019 Sep 22(3) 140-151 Similar articles in PubMed
NCCN Guidelines Insights: Thyroid Carcinoma, Version 2.2018. Haddad Robert I et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Dec 16(12) 1429-1440 Similar articles in PubMed
SEOM clinical guideline for treatment of muscle-invasive and metastatic urothelial bladder cancer (2018). Gonz?lez Del Alba A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 Jan 21(1) 64-74 Similar articles in PubMed
Guidelines of care for the management of primary cutaneous melanoma. Swetter Susan M et al. Journal of the American Academy of Dermatology 2019 80(1) 208-250 Similar articles in PubMed
US Preventive Services Task Force Breast Cancer Recommendation Statement on Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer. Newman Lisa et al. JAMA surgery 2019 Aug Similar articles in PubMed
Recommendations from a Portuguese Expert Group for Discontinuation of Tyrosine Kinase Inhibitors in Chronic Myeloid Leukemia Patients in Clinical Practice. Almeida Antonio et al. Acta medica portuguesa 2019 Aug 32(7-8) 550-557 Similar articles in PubMed
Molecular testing for advanced non-small cell lung cancer in Malaysia: Consensus statement from the College of Pathologists, Academy of Medicine Malaysia, the Malaysian Thoracic Society, and the Malaysian Oncological Society. Rajadurai Pathmanathan et al. Lung cancer (Amsterdam, Netherlands) 2019 Aug 13665-73 Similar articles in PubMed
Recognition of Board-Certified Clinical Laboratory Professionals as Qualified Healthcare Professionals ACMG, August 29, 2019
Taiwan consensus statement on the management of chronic hepatitis B. Chien Rong-Nan et al. Journal of the Formosan Medical Association = Taiwan yi zhi 2019 Jan 118(1 Pt 1) 7-38 Similar articles in PubMed
Chinese consensus on management of tyrosine kinase inhibitor-associated side effects in gastrointestinal stromal tumors. Li Jian et al. World journal of gastroenterology 2018 Dec 24(46) 5189-5202 Similar articles in PubMed
Risks of Solid Tumors in Heterozygous Carriers of Recessive Syndromes. Koudov? Monika et al. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32(Supplementum2) 14-23 Similar articles in PubMed
Recommendations for Preventive Care for Women with Rare Genetic Cause of Breast and Ovarian Cancer. Foretov? Lenka et al. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2019 32(Supplementum2) 6-13 Similar articles in PubMed
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement. , et al. JAMA 2019 0 0. (7) 652-665 Similar articles in PubMed
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years. Lin Angela E et al. American journal of medical genetics. Part A 2019 Aug Similar articles in PubMed
Gastrointestinal stromal tumours (GISTs): French Intergroup Clinical Practice Guidelines for diagnosis, treatments and follow-up (SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO). Landi Bruno et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Aug Similar articles in PubMed
Hereditary gastrointestinal cancers: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Stjepanovic N et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Aug Similar articles in PubMed
European expert consensus statement on therapeutic goals in Fabry disease. Wanner Christoph et al. Molecular genetics and metabolism 2018 124(3) 189-203 Similar articles in PubMed
The Society for Immunotherapy of Cancer consensus statement on immunotherapy for the treatment of non-small cell lung cancer (NSCLC). Brahmer Julie R et al. Journal for immunotherapy of cancer 2018 6(1) 75 Similar articles in PubMed
Respiratory care in familial dysautonomia: Systematic review and expert consensus recommendations. Kazachkov Mikhail et al. Respiratory medicine 2018 14137-46 Similar articles in PubMed
Merkel Cell Carcinoma, Version 1.2018, NCCN Clinical Practice Guidelines in Oncology. Bichakjian Christopher K et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Jun 16(6) 742-774 Similar articles in PubMed
ACOG Practice Bulletin No. 197 Summary: Inherited Thrombophilias in Pregnancy. et al. Obstetrics and gynecology 2018 Jul 132(1) 249-251 Similar articles in PubMed
ACOG Practice Bulletin No. 197: Inherited Thrombophilias in Pregnancy. et al. Obstetrics and gynecology 2018 Jul 132(1) e18-e34 Similar articles in PubMed
Gastric cancer: French intergroup clinical practice guidelines for diagnosis, treatments and follow-up (SNFGE, FFCD, GERCOR, UNICANCER, SFCD, SFED, SFRO). Zaanan Aziz et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2018 Aug 50(8) 768-779 Similar articles in PubMed
Antiretroviral Drugs for Treatment and Prevention of HIV Infection in Adults: 2018 Recommendations of the International Antiviral Society-USA Panel. Saag Michael S et al. JAMA 2018 320(4) 379-396 Similar articles in PubMed
Screening for Pancreatic Cancer: US Preventive Services Task Force Reaffirmation Recommendation Statement. et al. JAMA 2019 Aug 322(5) 438-444 Similar articles in PubMed
Local Coverage Determination (LCD): Genetic Testing for Lynch Syndrome (L34912) The U.S. Centers for Medicare & Medicaid Services
Local Coverage Determination (LCD): CYP2C19, CYP2D6, CYP2C9, and VKORC1 Genetic Testing (L35698) The U.S. Centers for Medicare & Medicaid Services
Local Coverage Determination (LCD): BRCA1 and BRCA2 Genetic Testing (L36715) The U.S. Centers for Medicare & Medicaid Services
Local Coverage Determination (LCD): Bladder/Urothelial Tumor Markers (L36975) The U.S. Centers for Medicare & Medicaid Services