Published on 07/29/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome.
Nissan Ella et al. The Journal of pediatrics 2021 -
Classifying and Evaluating Fetuses With Ventriculomegaly in Genetic Etiologic Studies.
Cai Meiying et al. Frontiers in genetics 2021 12682707 -
Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy.
Aoun Manar et al. International journal of molecular sciences 2021 22(13) -
Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan Dhanya Lakshmi et al. European journal of human genetics : EJHG 2021
Cancer Genomics
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A microRNA-clinical prognosis model to predict the overall survival for kidney renal clear cell carcinoma.
Zhan Yating et al. Cancer medicine 2021 -
Mutational profiling in acute lymphoblastic leukemia by RNA sequencing and chromosomal genomic array testing.
Yeung Cecilia et al. Cancer medicine 2021 -
Preoperative clinical and tumor genomic features associated with pathologic lymph node metastasis in clinical stage I and II lung adenocarcinoma.
Caso Raul et al. NPJ precision oncology 2021 5(1) 70 -
Cost-Minimization Analysis of Pembrolizumab Monotherapy Versus Nivolumab in Combination with Ipilimumab as First-Line Treatment for Metastatic PD-L1-Positive Non-small Cell Lung Cancer: A US Payer Perspective.
Qiao Nan et al. PharmacoEconomics - open 2021 -
Retrospective Review of Multitarget Stool DNA as a Screening Test for Colorectal Cancer.
Kleinschmidt Thomas K et al. The American surgeon 2021 31348211031844 -
Impact of Decipher Biopsy testing on clinical outcomes in localized prostate cancer in a prospective statewide collaborative.
Vince Randy A et al. Prostate cancer and prostatic diseases 2021 -
Genomic context of NTRK1/2/3 fusion-positive tumours from a large real-world population.
Westphalen C B et al. NPJ precision oncology 2021 5(1) 69 -
Next-generation sequencing of bile cell-free DNA for the early detection of patients with malignant biliary strictures.
Arechederra Maria et al. Gut 2021
Hereditary Cancer
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Initial Findings from a High Genetic Risk Prostate Cancer Clinic.
Sessine Michael S et al. Urology 2021 -
OncotypeDX© Recurrence Score in BRCA mutation carriers: a systematic review and meta-analysis.
Davey Matthew G et al. European journal of cancer (Oxford, England : 1990) 2021 154209-216 -
Risk of Late-Onset Breast Cancer in Genetically Predisposed Women.
Boddicker Nicholas J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2100531 -
Evaluation and comparison of hereditary Cancer guidelines in the population.
Ritchie Jordon B et al. Hereditary cancer in clinical practice 2021 19(1) 31
Chronic Disease
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Moral motivation regarding dementia risk testing among affected persons in Germany and Israel.
Alpinar-Sencan Zümrüt et al. Journal of medical ethics 2021
Ethics/Policy/Law
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Ethical and moral perspectives of individuals who considered/used preimplantation (embryo) genetic testing.
Zhang Jiahui et al. Journal of genetic counseling 2021 -
Institutional Framework for the Management of Human Genetic Resources in China.
Li Wei et al. Human gene therapy 2021
Practice
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Using the Diffusion of Innovation Theory to Understand the Challenges and Opportunities to Advancing Use of Nutrigenetics in Clinical Practice.
Dong Olivia M et al. Lifestyle genomics 2021 1-5 -
Clinical Exome Reanalysis: Current Practice and Beyond.
Ji Jianling et al. Molecular diagnosis & therapy 2021 -
Adapting genetic counseling operations amidst the COVID-19 pandemic.
Mauer Caitlin et al. Journal of genetic counseling 2021 -
Systematic Review of the Economic Evaluation of Returning Incidental Findings in Genomic Research.
Fontes Marx Mayara et al. Frontiers in public health 2021 9697381 -
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population.
Ahmadmehrabi Shadi et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2021 1945998211029544 -
Implementation and implications for polygenic risk scores in healthcare.
Slunecka John L et al. Human genomics 2021 15(1) 46 -
Why do people seek out polygenic risk scores for complex disorders, and how do they understand and react to results?
Peck Larissa et al. European journal of human genetics : EJHG 2021
Heart, Lung, Blood and Sleep Diseases
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Gene therapy for hemophilia: Current status and laboratory consequences.
Batty Paul et al. International journal of laboratory hematology 2021 43 Suppl 1117-123 -
A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease.
Rampersaud Evadnie et al. Blood advances 2021 5(14) 2839-2851 -
Differences in pediatric cholesterol screening rates between family physicians and pediatricians correlate with conflicting guidelines.
Peterson Amy L et al. Preventive medicine 2021 106732 -
The UK National Screening Committee's position on child-parent screening for familial hypercholesterolaemia.
Wald David S et al. Journal of medical screening 2021 9691413211025426 -
The Added Value of Coronary Calcium Score in Predicting Cardiovascular Events in Familial Hypercholesterolemia.
Gallo Antonio et al. JACC. Cardiovascular imaging 2021
Newborn Screening
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Principles of Genomic Newborn Screening Programs: A Systematic Review.
Downie Lilian et al. JAMA network open 2021 4(7) e2114336 -
The Value of Cognitive Pretesting: Improving Validity and Revealing Blind Spots through the Development of a Newborn Screening Parent Experiences Survey.
Simon Norma-Jean et al. International journal of neonatal screening 2021 7(3) -
Newborn Screening for Severe Combined Immunodeficiency Using the Multiple of the Median Values of T-Cell Receptor Excision Circles.
Cogley Michael F et al. International journal of neonatal screening 2021 7(3) -
Provider Perspectives on the Impact of the COVID-19 Pandemic on Newborn Screening.
Gold Jessica I et al. International journal of neonatal screening 2021 7(3) -
Newborn Screening in the Diagnosis of Primary Immunodeficiency.
Kobrynski Lisa J et al. Clinical reviews in allergy & immunology 2021
Pharmacogenomics
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Pharmacogenomics in Older Adults: An Integrative Review.
Inventor Ben R et al. Research in gerontological nursing 2021 14(4) 211-220 -
On the path towards personalized medicine: Implications of pharmacogenetic studies of alcohol use disorder medications.
Nieto Steven J et al. Expert review of precision medicine and drug development 2020 5(1) 43-54 -
Personal DNA Testing Increases Pharmacy Students' Confidence and Competence in Pharmacogenomics.
Assem Mahfoud et al. American journal of pharmaceutical education 2021 85(4) 8249
Reproductive Health
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Evaluation of the practical applications of fluorescence in situ hybridization in the prenatal diagnosis of positive noninvasive prenatal screenings.
Ju Duan et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 1-8 -
Specialist physicians' referral behavior regarding preimplantation genetic testing for single-gene disorders: Is there room to grow?
Capelouto Sarah et al. F&S reports 2021 2(2) 215-223 -
The significance of rare chromosomal abnormalities and fetoplacental mosaicism in prenatal diagnosis in the non-invasive prenatal testing era
Tidrenczel Zsolt et al. Orvosi hetilap 2021 162(29) 1156-1165