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Precision Health Database


Genomics & Health Impact Scan Database|Search|PHGKB

Last data update: May 19, 2022. (Total: 47241 Documents since 2012)
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Query Trace: all[original query]>>Original Studies[Product Type]
Estimated Yield of Screening for Heterozygous Familial Hypercholesterolemia With and Without Genetic Testing in US Adults
BK Bellows et al, JAHA, May 18, 2022
Rare and Common Genetic Variation Underlying the Risk of Hypertrophic Cardiomyopathy in a National Biobank.
Biddinger Kiran J et al. JAMA cardiology 2022
Integration of rare expression outlier-associated variants improves polygenic risk prediction
C Smail et al, AJHG, May 18, 2022
Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.
Citro Rodolfo et al. Frontiers in cardiovascular medicine 2022 9838200
Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.
Liu Jie et al. Hematology (Amsterdam, Netherlands) 2022 27(1) 565-574
Familial risk for bipolar I disorder is associated with erythrocyte omega-3 polyunsaturated fatty acid deficits in youth with attention-deficit hyperactivity disorder.
Mc Namara Robert K et al. Psychiatry research 2022 313114587
The association of genetic susceptibility to smoking with cardiovascular disease mortality and the benefits of adhering to a DASH diet: The Singapore Chinese Health Study.
Geng Tingting et al. The American journal of clinical nutrition 2022
RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
Wei Wei et al. Aging 2022 14(undefined)
GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction.
De Witte L et al. Human reproduction (Oxford, England) 2022
Diagnostic Impact of Next-Generation Sequencing Panels for Lymphoproliferative Neoplasms on Small-Volume Biopsies.
Fei Fei et al. American journal of clinical pathology 2022
Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz Nathan et al. Human molecular genetics 2022
Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation.
Huang Richard S P et al. The oncologist 2022
Prognostic Potential of a PSAT1-Associated Gene Signature in Identifying High-Risk Patients in Early-Stage EGFR-Mutant Lung Cancer.
Biyik-Sit Rumeysa et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
An Interactive Pharmacogenetics Lesson Using PharmGKB To Individualize Pharmacotherapy Recommendations.
Mosquera Andrea et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
RNA-Seq and Recurrence Risk Testing for Breast Cancer: Implications for Patient Education.
Soneral Paula et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample.
Ashenhurst James R et al. Frontiers in genetics 2022 13871260
Cancer genetic testing in marginalized groups during an era of evolving healthcare reform.
Modell Stephen M et al. Journal of cancer policy 2022 28100275
Exhaled Breath Condensate (EBC) analysis of circulating tumour DNA (ctDNA) using a lung cancer specific UltraSEEK oncogene panel.
Ryan Daniel J et al. Lung cancer (Amsterdam, Netherlands) 2022 16867-73
Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma.
Madanat-Harjuoja Laura M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 OF1-OF8
Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Pederiva Cristina et al. Atherosclerosis 2022
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Roberts Karyn J et al. International journal of obesity (2005) 2022
Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests.
Kiani Ali Asghar et al. Clinical laboratory 2022 68(5)
A Novel Machine Learning 13-Gene Signature: Improving Risk Analysis and Survival Prediction for Clear Cell Renal Cell Carcinoma Patients.
Terrematte Patrick et al. Cancers 2022 14(9)
Molecular Profiles of Advanced Urological Cancers in the PERMED-01 Precision Medicine Clinical Trial.
Billon Emilien et al. Cancers 2022 14(9)
Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio-economic population.
Battese Ellis Katie et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022
Carrier frequency of autosomal recessive genetic conditions in diverse populations: lessons learned from the Genome Aggregation Database.
Schmitz Matthew J et al. Clinical genetics 2022
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study.
Barnard Mollie E et al. Journal of medical genetics 2022
Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling.
Dibble Kate E et al. Gynecologic oncology reports 2022 41100989
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.
Rosamilia Michael B et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003491
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