Genomics & Health Impact Scan Database|Search|PHGKB

Genomics & Health Impact Scan Database|Search|PHGKB

Publication
DeepCC: a novel deep learning-based framework for cancer molecular subtype classification. Gao Feng et al. Oncogenesis 2019 Aug 8(9) 44 Similar articles in PubMed
Molecular Testing Versus Diagnostic Lobectomy in Bethesda III/IV Thyroid Nodules: A Cost-Effectiveness Analysis. Nicholson Kristina et al. Thyroid : official journal of the American Thyroid Association 2019 Aug Similar articles in PubMed
Cost-utility analysis of genetic polymorphism universal screening in colorectal cancer prevention by detection of high-risk individuals. Pereira Carina 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
Breast cancer risk assessment: Evaluation of screening tools for genetics referral. Himes Deborah O et al. Journal of the American Association of Nurse Practitioners 2019 Aug Similar articles in PubMed
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women Updated Evidence Report and Systematic Review for the US Preventive Services Task Force HD Nelson et al, JAMA, August 20, 2019
The Prognostic Value of the MiR-200 Family in Colorectal Cancer: A Meta-analysis with 1882 Patients. Yu Chengpeng et al. Journal of Cancer 2019 10(17) 4009-4016 Similar articles in PubMed
Risk of Ischemic Stroke and Peripheral Arterial Disease in Heterozygous Familial Hypercholesterolemia: A Meta-Analysis. Akioyamen Leo E et al. Angiology 2019 Sep 70(8) 726-736 Similar articles in PubMed
Research on Artificial Intelligence and Primary Care: A Scoping Review J Kueper et al, MexRXIV, AUgust 21, 2019
Automated Segmentation of Tissues Using CT and MRI: A Systematic Review. Lenchik Leon et al. Academic radiology 2019 Aug Similar articles in PubMed
Artificial Intelligence Versus Clinicians in Disease Diagnosis: Systematic Review. Shen Jiayi et al. JMIR medical informatics 2019 Aug 7(3) e10010 Similar articles in PubMed
Machine learning applications to clinical decision support in neurosurgery: an artificial intelligence augmented systematic review. Buchlak Quinlan D et al. Neurosurgical review 2019 Aug Similar articles in PubMed
Diagnostic DNA Methylation Biomarkers for Renal Cell Carcinoma: A Systematic Review. Lommen Kim et al. European urology oncology 2019 Aug Similar articles in PubMed
Benefits, harms and cost-effectiveness of cancer screening in Australia: an overview of modelling estimates. Lew Jie-Bin et al. Public health research & practice 2019 Jul 29(2) Similar articles in PubMed
The use and performance of artificial intelligence applications in dental and maxillofacial radiology: A systematic review. Hung Kuofeng et al. Dento maxillo facial radiology 2019 Aug 20190107 Similar articles in PubMed
Cost-Effectiveness Analysis of a HMGA2 Prognostic Test for Acute Myeloid Leukemia in a Canadian Setting. Tremblay Gabriel et al. Applied health economics and health policy 2019 Aug Similar articles in PubMed
Identification of microRNA biomarkers in atrial fibrillation: A protocol for systematic review and bioinformatics analysis. Shen Nan-Nan et al. Medicine 2019 Jul 98(30) e16538 Similar articles in PubMed
Enablers and barriers to treatment adherence in heterozygous familial hypercholesterolaemia: a qualitative evidence synthesis. Kinnear Fiona J et al. BMJ open 2019 Jul 9(7) e030290 Similar articles in PubMed
A 23 gene-based molecular prognostic score precisely predicts overall survival of breast cancer patients. Shimizu Hideyuki et al. EBioMedicine 2019 Jul Similar articles in PubMed
MicroRNAs as biomarkers of harmful environmental and occupational exposures: a systematic review. Kotsyfakis Michail et al. Biomarkers : biochemical indicators of exposure, response, and susceptibility to chemicals 2019 Aug 1-20 Similar articles in PubMed
Effectiveness of decision aids for female BRCA1 and BRCA2 mutation carriers: a systematic review. Krassuski Lisa et al. BMC medical informatics and decision making 2019 Aug 19(1) 154 Similar articles in PubMed
Screening for Pancreatic Cancer: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. Henrikson Nora B et al. JAMA 2019 Aug 322(5) 445-454 Similar articles in PubMed
Internet-based interventions for adults with hearing loss, tinnitus and vestibular disorders: a protocol for a systematic review. Beukes Eldr? W et al. Systematic reviews 2018 7(1) 205 Similar articles in PubMed
CLINGEN Actionability Report for Familial Adenomatous Polyposis - APC ClinGen Actionability Working Group
CLINGEN Actionability Report for Marfan Syndrome - FBN1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Factor V Leiden, Homozygous (also includes compound heterozygous FVL + prothrombin G20210A) - F5 ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary Hemorrhagic Telangiectasia - ENG, ACVRL1, SMAD4, GDF2  ClinGen Actionability Working Group
CLINGEN Actionability Report for Phenylketonuria (PKU) - PAH ClinGen Actionability Working Group
CLINGEN Actionability Report for Malignant Hyperthermia Susceptibility - RYR1, CACNA1S  ClinGen Actionability Working Group
CLINGEN Actionability Report for MUTYH-Associated Polyposis - MUTYH ClinGen Actionability Working Group
CLINGEN Actionability Report for Dilated cardiomyopathy - DMD, LMNA, TNNT2  ClinGen Actionability Working Group
CLINGEN Actionability Report for von Willebrand Disease - VWF  ClinGen Actionability Working Group
CLINGEN Actionability Report for Von Hippel-Lindau Syndrome - VHL ClinGen Actionability Working Group
CLINGEN Actionability Report for POLE and POLD1 associated susceptibility to C- POLE, POLD1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Factor XI Deficiency - F11 ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary mixed polyposis syndrome 1- GREM1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Breast Cancer - ATM, CHEK2  ClinGen Actionability Working Group
CLINGEN Actionability Report for Acute Intermittent Porphyria - HMBS ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial papillary renal cell carcinoma 1 - MET ClinGen Actionability Working Group
CLINGEN Actionability Report for Glutaric Acidemia I - GCDH  ClinGen Actionability Working Group
CLINGEN Actionability Report for Fabry Disease - GLA ClinGen Actionability Working Group
CLINGEN Actionability Report for Peutz-Jeghers Syndrome - STK11 ClinGen Actionability Working Group
CLINGEN Actionability Report for Adrenoleukodystrophy - ABCD1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos Syndrome Type IV - COL3A1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Basal Cell Nevus Syndrome (BCNS) - PTCH1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type IIB - RET ClinGen Actionability Working Group
CLINGEN Actionability Report for Multiple Endocrine Neoplasia Type I - MEN1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, autosomal dominant-FGF23 ClinGen Actionability Working Group
CLINGEN Actionability Report for Acrodermatitis enteropathica, zinc-deficiency type-SLC39A4 ClinGen Actionability Working Group
CLINGEN Actionability Report for Homocystinuria due to Cystathionine Beta-Synthase Deficiency - CBS ClinGen Actionability Working Group
CLINGEN Actionability Report for Alpha-1 Antitrypsin Deficiency - SERPINA1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Charcot - Marie - Tooth Disease, Type 1 - PMP22, MPZ, LITAF, EGR2, NEFL  ClinGen Actionability Working Group
CLINGEN Actionability Report for Glycogen Storage Disease 2 - GAA ClinGen Actionability Working Group
CLINGEN Actionability Report for Romano-Ward Long QT Syndrome - KCNQ1, KCNH2, SCN5A  ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary Breast and Ovarian Cancer- BRCA1, BRCA2  ClinGen Actionability Working Group
CLINGEN Actionability Report for Ovarian cancer - RAD51C, RAD51D, BRIP1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Thrombophilia due to protein S deficiency - PROS1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Tumor Predisposition Syndrome - BAP1 ClinGen Actionability Working Group
CLINGEN Actionability Report for F5: Factor V deficiency (AR) - F5 ClinGen Actionability Working Group
CLINGEN Actionability Report for WAS-related disorders-WAS ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilms tumor-WT1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Ehlers-Danlos syndrome, classic type - COL5A1, COL5A2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Pancreatic cancer/melanoma syndrome - CDKN2A ClinGen Actionability Working Group
CLINGEN Actionability Report for Multiple Endocrine Neoplasia IIA, Familial Medullary Thyroid Cancer - RET ClinGen Actionability Working Group
CLINGEN Actionability Report for Li-Fraumeni Syndrome - TP53  ClinGen Actionability Working Group
CLINGEN Actionability Report for Juvenile polyposis syndrome - SMAD4, BMPR1A ClinGen Actionability Working Group
CLINGEN Actionability Report for Homozygous Familial Hypercholesterolemia - LDLR, APOB, PCSK9 ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial Hypertrophic Cardiomyopathy - ACTC1, CSRP3, MYBPC3, MYH7, MYL2, MYL3, PRKAG2, TNNI3, TNNT2, TPM1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Hemophilia A and B - F8, F9  ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary fructose intolerance-ALDOB ClinGen Actionability Working Group
CLINGEN Actionability Report for Cystinosis-CTNS ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatasia-ALPL ClinGen Actionability Working Group
CLINGEN Actionability Report for Alkaptonuria-HGD ClinGen Actionability Working Group
CLINGEN Actionability Report for DICER1-Related Disorders-DICER1 ClinGen Actionability Working Group
CLINGEN Actionability Report for Aceruloplasminemia-CP ClinGen Actionability Working Group
CLINGEN Actionability Report for Factor V Leiden, Heterozygous - F5 ClinGen Actionability Working Group
CLINGEN Actionability Report for Hemochromatosis, Type 1-HFE ClinGen Actionability Working Group
CLINGEN Actionability Report for DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy - DNM2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Neurofibromatosis type 1 - NF1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Brugada Syndrome - SCN5A ClinGen Actionability Working Group
CLINGEN Actionability Report for Autosomal Dominant Polycystic Kidney Disease - DNAJB11, GANAB, PKD1, PKD2 ClinGen Actionability Working Group
CLINGEN Actionability Report for PTEN Hamartoma Tumor Syndrome - Cowden Syndrome-PTEN ClinGen Actionability Working Group
CLINGEN Actionability Report for Catecholaminergic Polymorphic Ventricular Tachycardia - RYR2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Wilson Disease - ATP7B ClinGen Actionability Working Group
CLINGEN Actionability Report for Tuberous Sclerosis Complex (TSC)-TSC1, TSC2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Neurofibromatosis Type II -NF2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Dopa-Responsive Dystonia - RB1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Familial thoracic aortic aneurysms and dissections (FTAAD)- FBN1, TGFBR1, TGFBR2, SMAD3, ACTA2, MYLK, MYH11  ClinGen Actionability Working Group
CLINGEN Actionability Report for Thrombophilia due to protein C deficiency - PROC ClinGen Actionability Working Group
CLINGEN Actionability Report for Primary pulmonary hypertension 1- BMPR2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Biallelic RPE65 Mutation-Associated Retinal Dystrophy-RPE65 ClinGen Actionability Working Group
CLINGEN Actionability Report for Arterial tortuosity syndrome - SLC2A10 ClinGen Actionability Working Group
CLINGEN Actionability Report for Adult‑onset type II citrullinemia - SLC25A13 ClinGen Actionability Working Group
CLINGEN Actionability Report for Very Long Chain Actyl-CoA Dehydrogenase Deficiency (ACADVLD) - ACADVL  ClinGen Actionability Working Group
CLINGEN Actionability Report for Emery-Dreifuss Muscular Dystrophy (AD, XL) - LMNA, EMD, FHL1  ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary Leiomyomatosis and Renal Cell Cancer - FH ClinGen Actionability Working Group
CLINGEN Actionability Report for Hereditary transthyretin-related amyloidosis - TTR ClinGen Actionability Working Group
CLINGEN Actionability Report for Paragangliomas 1, 2, 3, 4, 5; Pheochromocytoma- MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127  ClinGen Actionability Working Group
CLINGEN Actionability Report for Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency - CYP21A2 ClinGen Actionability Working Group
CLINGEN Actionability Report for Hypophosphatemic rickets, X-linked dominant-PHEX ClinGen Actionability Working Group
CLINGEN Actionability Report for Mucopolysaccharidosis type I-IDUA ClinGen Actionability Working Group