Published on 02/20/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Determining the incidence of rare diseases.
Bainbridge Matthew N et al. Human genetics 2020 Feb
Phenotype-Based Criteria Increases Diagnostic Impact of Exome Sequencing in Neonates.
et al. American journal of medical genetics. Part A 2020 Mar 182(3) 422-423
Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer.
Mills Justin et al. American family physician 2020 Feb 101(4) 239-240
Tumor Mutation Burden as a Potential Biomarker for PD-1/PD-L1 Inhibition in Advanced Non-small Cell Lung Cancer.
Huang Di et al. Targeted oncology 2020 Feb
Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression.
Frey Melissa K et al. Gynecologic oncology 2020 Feb
Liquid Biopsies to Select Patients for Perioperative Chemotherapy in Muscle-invasive Bladder Cancer: A Systematic Review.
de Kruijff Ingeborg E et al. European urology oncology 2020 Feb
Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: Recommendation Statement.
et al. American family physician 2020 Feb 101(4) 233-238
Trend and survival benefit of Oncotype DX use among female hormone receptor-positive breast cancer patients in 17 SEER registries, 2004-2015.
Zhang Lu et al. Breast cancer research and treatment 2020 Feb
Identification of a Gene Panel for Endometrioid Endometrial Cancer: a Possible Prognostic Value?
Malentacchi Francesca et al. Reproductive sciences (Thousand Oaks, Calif.) 2020 Jan
Management of Male Breast Cancer: ASCO Guideline.
Hassett Michael J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO1903120
Mismatch repair gene pathogenic germline variants in a population-based cohort of breast cancer.
Nguyen-Dumont Tu et al. Familial cancer 2020 Feb
Cross-sectional adherence with the multi-target stool DNA test for colorectal cancer screening: Real-world data from a large cohort of older adults.
Weiser Emily et al. Journal of medical screening 2020 Feb 969141320903756
Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers. I. Molecular Biomarkers in Prostate Cancer.
Lotan Tamara L et al. The American journal of surgical pathology 2020 Feb
Review of current status of molecular diagnosis and characterization of monogenic diabetes mellitus: a focus on next-generation sequencing.
Campbell Michelle Renee et al. Expert review of molecular diagnostics 2020 Feb
Clinical Application of Circulating MicroRNAs in Parkinson's Disease: The Challenges and Opportunities as Diagnostic Biomarker.
Ramaswamy Palaniswamy et al. Annals of Indian Academy of Neurology 23(1) 84-97
At the Research-Clinical Interface: Returning Individual Genetic Results to Research Participants.
West Kathleen M et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Feb
Heart, Lung, Blood and Sleep Diseases
Familial Hypertrophic Cardiomyopathy: Late Potentials and Other Prognostic Markers.
Chaves-Markman Ândrea et al. Cureus 2020 Jan 12(1) e6530
Pre-Test Probability and Genes and Variants of Uncertain Significance in Familial Long QT Syndrome.
Waddell-Smith Kathryn E et al. Heart, lung & circulation 2020 Jan
Predictive Accuracy of a Polygenic Risk Score Compared With a Clinical Risk Score for Incident Coronary Heart Disease.
Mosley Jonathan D et al. JAMA 2020 Feb 323(7) 627-635
Genetic considerations for adults with congenital heart disease.
Ito Seiji et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Feb
Do Polygenic Risk Scores Improve Patient Selection for Prevention of Coronary Artery Disease?
SS Khan et al, JAMA Editorial, February 18, 2020
Predictive Accuracy of a Polygenic Risk Score-Enhanced Prediction Model vs a Clinical Risk Score for Coronary Artery Disease.
Elliott Joshua et al. JAMA 2020 Feb 323(7) 636-645
Clinical Impact and Cost Efficacy of Newborn Screening for Congenital Adrenal Hyperplasia.
Fox Danya A et al. The Journal of pediatrics 2020 Feb
Minimal change in structural, functional and inflammatory markers of lung disease in newborn screened infants with cystic fibrosis at one year.
Davies Gwyneth et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Feb
Adverse Outcomes and Economic Burden of Congenital Adrenal Hyperplasia Late Diagnosis in the Newborn Screening Absence.
Miranda Mirela Costa De et al. Journal of the Endocrine Society 2020 Feb 4(2) bvz013
Pharmacogenetics in primary care.
Dawes Martin et al. Healthcare management forum 2020 Feb 840470419901285
Pharmacogenetic Testing in Depressed Patients and Interdisciplinary Exchange between a Pharmacist and Psychiatrists Results in Reduced Hospitalization Times.
Bättig Victor A D et al. Pharmacopsychiatry 2020 Feb
Combining clinical and candidate gene data into a risk score for azathioprine-associated leukopenia in routine clinical practice.
Anandi Prathima et al. The pharmacogenomics journal 2020 Feb
Pain Management Using Clinical Pharmacy Assessments With and Without Pharmacogenomics in an Oncology Palliative Medicine Clinic.
Patel Jai N et al. JCO oncology practice 2020 Feb 16(2) e166-e174
Identification of environmental and genetic factors that influence warfarin time in therapeutic range.
Botton Mariana R et al. Genetics and molecular biology 2020 43(1 suppl 2) e20190025
Cost-effectiveness of CYP2C19-guided antiplatelet therapy in patients with acute coronary syndrome and percutaneous coronary intervention informed by real-world data.
Limdi Nita A et al. The pharmacogenomics journal 2020 Feb
Second tier non-invasive prenatal testing in a regional prenatal diagnosis service unit: a retrospective analysis and literature review.
Ng V K S et al. Hong Kong medical journal = Xianggang yi xue za zhi 2020 Jan 26(1)
Non-invasive prenatal test to screen common trisomies in twin pregnancies.
Motevasselian Mahtab et al. Molecular cytogenetics 2020 135
Next-generation sequencing in prenatal setting: Some examples of unexpected variant association.
Rinaldi Berardo et al. European journal of medical genetics 2020 Feb 103875