Published on 03/26/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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The Financial Impact of Genetic Diseases in a Pediatric Accountable Care Organization.
Miller Katherine E et al. Frontiers in public health 2020 858 -
Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT).
Manoharan Aravindhan et al. Indian journal of pediatrics 2020 Mar -
Limitations of exome sequencing in detecting rare and undiagnosed diseases.
Burdick Kendall J et al. American journal of medical genetics. Part A 2020 Mar -
Genetics of severe combined immunodeficiency.
Kumrah Rajni et al. Genes & diseases 2020 Mar 7(1) 52-61 -
Dysmorphology in the Era of Genomic Diagnosis.
Hurst Anna C E et al. Journal of personalized medicine 2020 Mar 10(1) -
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.
Kim Bong Jik et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar
Cancer
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Involving patients and their families in deciding to use next generation sequencing: Results from a nationally representative survey of U.S. oncologists.
Spees Lisa P et al. Patient education and counseling 2020 Mar -
Germline BRCA Mutation Rates in Latina Women Presenting for Gynecologic Oncology Care.
Hong Linda et al. Gynecologic and obstetric investigation 2020 Mar 1-8 -
Education on cancer risk assessment and genetic counseling to address cancer health disparities among racial/ethnic groups and rural populations: Implementing culturally tailored outreach through community health educators.
San Miguel-Majors Sandra L et al. Journal of genetic counseling 2020 Mar -
Prospective Lynch Syndrome Database (PLSD) - cumulative risk for cancer by age, genetic variant, and gender in carriers subject to colonoscopy
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The Prospective Lynch Syndrome Database reports enable evidence-based personal precision health care.
Møller Pål et al. Hereditary cancer in clinical practice 2020 186 -
A 3-gene biomarker signature to predict response to taxane-based neoadjuvant chemotherapy in breast cancer.
Kallarackal Jim et al. PloS one 2020 15(3) e0230313 -
Racial disparities in breast cancer hereditary risk assessment referrals.
Peterson Jennifer M et al. Journal of genetic counseling 2020 Mar -
Prognostic Value of Germline DNA Repair Gene Mutations in De Novo Metastatic and Castration-Sensitive Prostate Cancer.
Wei Yu et al. The oncologist 2020 Mar -
Prevalence of Mismatch Repair-Deficient Colorectal Adenoma/Polyp in Early-Onset, Advanced Cases: a Cross-Sectional Study Based on Iranian Hereditary Colorectal Cancer Registry.
Khorram Mahla Rahmani et al. Journal of gastrointestinal cancer 2020 Mar -
Illustrating Cancer Risk: Patient Risk Communication Preferences and Interest regarding a Novel BRCA1/2 Genetic Risk Modifier Test.
Hamilton Jada G et al. Public health genomics 2020 Mar 1-14 -
A new clinical-genomic model to predict 10-year recurrence risk in primary operable breast cancer patients.
Huang Tzu-Ting et al. Scientific reports 2020 Mar 10(1) 4861 -
The healthcare value of the Magee Decision Algorithm™: use of Magee Equations™ and mitosis score to safely forgo molecular testing in breast cancer.
Bhargava Rohit et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 Mar -
Prognostic value of the SPOP mutant genomic subclass in prostate cancer.
Shoag Jonathan et al. Urologic oncology 2020 Mar -
Frequency of mutations in BRCA genes and other candidate genes in high-risk probands or probands with breast or ovarian cancer in the Czech Republic.
Riedlova P et al. Molecular biology reports 2020 Mar -
The Utility of Oncotype DX for Adjuvant Chemotherapy Treatment Decisions in Estrogen Receptor-positive, Human Epidermal Growth Factor Receptor 2-negative, Node-negative Breast Cancer.
Rizki Hirah et al. Cureus 2020 Mar 12(3) e7269 -
MRI-based radiogenomics analysis for predicting genetic alterations in oncogenic signalling pathways in invasive breast carcinoma.
Lin P et al. Clinical radiology 2020 Mar -
BRCA1 / BRCA2 Pathogenic Variant Breast Cancer: Treatment and Prevention Strategies.
Lee Anbok et al. Annals of laboratory medicine 2020 Mar 40(2) 114-121 -
Short-Term Outcomes of Active Surveillance for Low-Risk Prostate Cancer Among Men with Germline DNA Repair Gene Mutations.
Halstuch Daniel et al. The Journal of urology 2020 Mar 101097JU0000000000001027 -
The use of circulating cell-free tumor DNA in routine diagnostics of metastatic melanoma patients.
Knuever Jana et al. Scientific reports 2020 Mar 10(1) 4940 -
Plasma cell-free DNA-based predictors of response to abiraterone acetate/prednisone and prognostic factors in metastatic castration-resistant prostate cancer.
Du Meijun et al. Prostate cancer and prostatic diseases 2020 Mar -
Pathologic findings and clinical outcomes in women undergoing risk-reducing surgery to prevent ovarian and fallopian tube carcinoma: A large prospective single institution experience.
Rush Shannon K et al. Gynecologic oncology 2020 Mar -
Clinical Validity of Next-Generation Sequencing Multi-Gene Panel Testing for Detecting Pathogenic Variants in Patients With Hereditary Breast-Ovarian Cancer Syndrome.
Yoo Jaeeun et al. Annals of laboratory medicine 2020 Mar 40(2) 148-154 -
Systematic review of acceptability, cardiovascular, neurological, bone health and HRT outcomes following risk reducing surgery in BRCA carriers.
Gaba Faiza et al. Best practice & research. Clinical obstetrics & gynaecology 2020 Feb -
Next-Generation Radiogenomics Sequencing for Prediction of EGFR and KRAS Mutation Status in NSCLC Patients Using Multimodal Imaging and Machine Learning Algorithms.
Shiri Isaac et al. Molecular imaging and biology 2020 Mar -
Feasibility of endometrial sampling by vaginal tampons in women with Lynch syndrome.
Woolderink Jorien M et al. BMC women's health 2020 Mar 20(1) 54
Chronic Disease
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Genetic testing utilization for patients with neurologic disease and the limitations of claims data.
Mackenzie Samuel J et al. Neurology. Genetics 2020 Apr 6(2) e405 -
Strategies to identify individuals with monogenic diabetes: results of an economic evaluation.
Peters Jaime L et al. BMJ open 2020 Mar 10(3) e034716 -
Initial experience from a renal genetics clinic demonstrates a distinct role in patient management.
Thomas Christie P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar
Ethics/Policy/Law
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Genetic Discrimination: The Genetic Information Nondiscrimination Act's Impact on Practice and Research.
Underhill-Blazey Meghan et al. Clinical journal of oncology nursing 2020 Apr 24(2) 135-137 -
Genetic Exceptionalism and Precision Health Promotion.
Terry Paul E et al. American journal of health promotion : AJHP 2020 Mar 890117120908806
Practice
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Sport and exercise genomics: the FIMS 2019 consensus statement update.
Tanisawa Kumpei et al. British journal of sports medicine 2020 Mar -
Preparing Medical Specialists for Genomic Medicine: Continuing Education Should Include Opportunities for Experiential Learning.
McClaren Belinda J et al. Frontiers in genetics 2020 11151 -
Development of an Evidence-Based, Theory-Informed National Survey of Physician Preparedness for Genomic Medicine and Preferences for Genomics Continuing Education.
McClaren Belinda J et al. Frontiers in genetics 2020 1159 -
Genetic health professionals' experiences with initiating reanalysis of genomic sequence data.
Vears Danya F et al. Familial cancer 2020 Mar -
Consumer Genomic Testing in 2020.
Feero W Gregory et al. JAMA 2020 Mar -
Evaluation of family health history collection methods impact on data and risk assessment outcomes.
Wu R Ryanne et al. Preventive medicine reports 2020 Jun 18101072 -
The Consultant's intermediary role in the regulation of molecular diagnostics in the US.
Holloway Kelly et al. Social science & medicine (1982) 2020 Mar 112929
Heart, Lung, Blood and Sleep Diseases
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Hemochromatosis in India: First Report of Whole Exome Sequencing With Review of the Literature.
Koshy Abraham et al. Journal of clinical and experimental hepatology 10(2) 163-169 -
Cystic Fibrosis: A Simple and Customized Strategy for Genetic Screening Able to Detect Over 90% of Identified Mutated Alleles in Brazilian Newborns.
Rispoli Thaiane et al. Molecular diagnosis & therapy 2020 Mar -
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
James Cynthia A et al. European heart journal 2020 Mar -
Real-world cohort study of adult and pediatric patients treated for hereditary angioedema in the United States.
Tachdjian Raffi et al. Allergy and asthma proceedings 2020 Mar -
Inclisiran for the Treatment of Heterozygous Familial Hypercholesterolemia.
Raal Frederick J et al. The New England journal of medicine 2020 Mar -
Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry.
Luirink Ilse K et al. Atherosclerosis 2020 Feb 29924-31
Newborn Screening
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Newborn Screening for Cystic Fibrosis in Mersin Province: Yearly Assessment of the National Program.
Özdemir Ali et al. Turkish thoracic journal 2020 Mar 21(2) 100-104 -
Reducing False-Positive Results in Newborn Screening Using Machine Learning.
Peng Gang et al. International journal of neonatal screening 2020 Mar 6(1)
Pharmacogenomics
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Are pharmacists from the province of Quebec ready to integrate pharmacogenetics into their practice.
Petit Chloé et al. Pharmacogenomics 2020 Mar -
Precision Genomic Practice in Oncology: Pharmacist Role and Experience in an Ambulatory Care Clinic.
Raheem Farah et al. Pharmacy (Basel, Switzerland) 2020 Mar 8(1) -
Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation.
Lauschke Volker M et al. NPJ genomic medicine 2020 59 -
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2C9 and Nonsteroidal Anti-inflammatory Drugs.
Theken Katherine N et al. Clinical pharmacology and therapeutics 2020 Mar -
Pharmacogenomic testing and antidepressant response: problems and promises.
Smith Tawny L et al. Revista brasileira de psiquiatria (Sao Paulo, Brazil : 1999) 2020 Mar -
Improving Pain Management with Pharmacogenomics: A General Introduction.
Schuh Michael J et al. Journal of pain & palliative care pharmacotherapy 2020 Mar 1-6
Reproductive Health
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Universal chromosomal microarray analysis reveals high proportion of copy number variants in low risk pregnancies.
Stern Shira et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Mar -
Clinical utility of expanded noninvasive prenatal screening and chromosomal microarray analysis in high risk pregnancies.
Zhu Xiaofan et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Mar -
Comparing prenatal screening experiences of Icelandic women who received false-positive and true-negative first-trimester combined screening results in Iceland in 2012-2016.
Thorolfsdottir Eirny et al. Journal of genetic counseling 2020 Mar -
Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
Wang Yipeng et al. Molecular cytogenetics 2020 1310 -
Non-invasive prenatal testing and maternal obesity - A review.
Juul Laura Andrea et al. Acta obstetricia et gynecologica Scandinavica 2020 Mar -
Identity-by-state-based haplotyping expands the application of comprehensive preimplantation genetic testing.
Ding Jia et al. Human reproduction (Oxford, England) 2020 Mar