Published on 11/18/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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A Quality Improvement Project to Implement Choking Prevention and First Aid Education in Prader-Willi Syndrome Caregivers.
Obrynba Kathryn S et al. Journal of clinical medicine 2021 10(21) -
An update on the CHDGKB for the systematic understanding of risk factors associated with non-syndromic congenital heart disease.
Yang Lan et al. Computational and structural biotechnology journal 2021 195741-5751 -
Rapid genomic testing for critically ill children: time to become standard of care?
Stark Zornitza et al. European journal of human genetics : EJHG 2021 -
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
Du Xiaoli et al. Journal of autism and developmental disorders 2021 -
A Visual Phenotype-Based Differential Diagnosis Process for Rare Diseases.
Yang Jian et al. Interdisciplinary sciences, computational life sciences 2021
Cancer Genomics
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Clinical Value of NGS Genomic Studies for Clinical Management of Pediatric and Young Adult Bone Sarcomas.
Gutiérrez-Jimeno Miriam et al. Cancers 2021 13(21) -
Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies.
Aldrighetti Christopher M et al. JAMA network open 2021 4(11) e2133205 -
Prospective molecular classification of endometrial carcinomas: institutional implementation, practice, and clinical experience.
Devereaux Kelly A et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2021 -
Central Nervous System Tumor Classification: An Update on the Integration of Tumor Genetics.
McLendon Roger E et al. Hematology/oncology clinics of North America 2021 -
Integrating NGS-derived mutational profiling in the diagnosis of multiple lung adenocarcinomas.
Ezer Nicole et al. Cancer treatment and research communications 2021 29100484 -
The CIRCULATE Trial: Circulating Tumor DNA Based Decision for Adjuvant Treatment in Colon Cancer Stage II Evaluation (AIO-KRK-0217).
Folprecht Gunnar et al. Clinical colorectal cancer 2021 -
TP53 Combined Phenotype Score Is Associated with the Clinical Outcome of TP53-Mutated Myelodysplastic Syndromes.
Yabe Mariko et al. Cancers 2021 13(21) -
Clinical and pathological analysis of companion diagnostic testing of microsatellite instability-high for pembrolizumab in gynaecologic malignancy.
Takeda Takashi et al. Japanese journal of clinical oncology 2021 -
The prevalence of tumour markers in malignant pleural effusions associated with primary pulmonary adenocarcinoma: a retrospective study.
Fjaellegaard Katrine et al. European clinical respiratory journal 2021 8(1) 1984375
Hereditary Cancer
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Germline Predisposition to Pediatric Cancer, from Next Generation Sequencing to Medical Care.
Gargallo Pablo et al. Cancers 2021 13(21) -
Constructing germline research cohorts from the discarded reads of clinical tumor sequences.
Gusev Alexander et al. Genome medicine 2021 13(1) 179 -
Polygenic risk score across distinct colorectal cancer screening outcomes: from premalignant polyps to colorectal cancer.
Obón-Santacana Mireia et al. BMC medicine 2021 19(1) 261 -
Hereditary cancer panel testing challenges and solutions for the latinx community: costs, access, and variants.
Douglas Michael P et al. Journal of community genetics 2021 -
Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial.
Hodgson Darren R et al. Gynecologic oncology 2021 -
Patient-Reported Factors Associated With Older Adults' Cancer Screening Decision-making: A Systematic Review.
Smith Jenna et al. JAMA network open 2021 4(11) e2133406 -
Breast-conserving therapy for breast cancer with BRCA mutations: a meta-analysis.
Wang Changjun et al. Breast cancer (Tokyo, Japan) 2021
Ethics/Policy/Law
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Variation in market access decisions for cell and gene therapies across the United States, Canada, and Europe.
Tunis Sean et al. Health policy (Amsterdam, Netherlands) 2021 -
Data Ethics in Digital Health and Genomics.
Karabekmez Muhammed Erkan et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2021 1-14
Practice
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Return of individual research results from genomic research: A systematic review of stakeholder perspectives.
Vears Danya F et al. PloS one 2021 16(11) e0258646 -
Challenges and practical solutions for managing secondary genomic findings in primary care.
Sebastian Agnes et al. European journal of medical genetics 2021 65(1) 104384 -
Imagining genomic medicine futures in primary care: General practitioners' views on mainstreaming genomics in the National Health Service.
Mwale Shadreck et al. Sociology of health & illness 2021 -
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
De Sousa Sunita M C et al. Endocrine 2021 -
Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.
Blout Zawatsky Carrie L et al. American journal of human genetics 2021 -
Using Genomic Techniques in Sports and Exercise Science: Current Status and Future Opportunities.
Griswold Anthony J et al. Current sports medicine reports 2021 20(11) 617-623 -
How Scientists Perceive CRISPR's Translational Promise and the Implications for Individuals with Genetic Conditions.
Halpern Jodi et al. Ethics & human research 2021 43(6) 28-41
Heart, Lung, Blood and Sleep Diseases
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The utility of hereditary thrombophilia testing among patients with unprovoked venous thromboembolism.
Olivo Freites Cristina et al. International journal of laboratory hematology 2021 -
Effectiveness of cascade testing strategies in relatives for familial hypercholesterolemia: A systematic review and meta-analysis.
Leonardi-Bee Jo et al. Atherosclerosis 2021 3387-14 -
Combined Non-Invasive Cardiac Imaging and Genetic Testing of Elite Volleyball Players: A Ten-Year Experience.
Grossfeld Paul et al. Cardiology and cardiovascular medicine 2021 5(5) 545-550 -
Clinical and genetic spectrum of neonatal arrhythmia in a NICU.
Dai Yi et al. Translational pediatrics 2021 10(10) 2432-2438 -
Familial hypercholestrolemia: clinical examination holds the key!
Dewan Pooja et al. Pediatric endocrinology, diabetes, and metabolism 2021 27(3) 209-212
Newborn Screening
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Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net: Results of the Southwest German CFNBS pilot study.
Sommerburg Olaf et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021
Pharmacogenomics
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The use of pharmacogenetic testing in psychiatry.
Kumar Aparna et al. Journal of the American Association of Nurse Practitioners 2021 33(11) 849-851 -
Frequency and impact of DHODH, ABCG2 and CYP2C19 SNPs on the therapeutic efficacy, tolerability and toxicity of leflunomide.
Makarem Yasmine S et al. Pharmacogenomics 2021 -
Development and Implementation of In-House Pharmacogenomic Testing Program at a Major Academic Health System.
Mroz Pawel et al. Frontiers in genetics 2021 12712602
Reproductive Health
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Prenatal Diagnosis Nomograms: A Novel Tool to Predict Fetal Chromosomal Abnormalities in High-Risk Patients.
Zhou Yangzi et al. Risk management and healthcare policy 2021 144523-4535