Published on 03/25/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Exploring parents' perceptions of the value of pediatric genetic counseling patient letters: A qualitative study presenting lessons learned.
Brown Courtney et al. Journal of genetic counseling 2021
Challenges in Transition From Childhood to Adulthood Care in Rare Metabolic Diseases: Results From the First Multi-Center European Survey.
Stepien Karolina M et al. Frontiers in medicine 2021 8652358
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim Henrik et al. Genome medicine 2021 13(1) 40
A profile and review of findings from the Early Markers for Autism study: unique contributions from a population-based case-control study in California.
Lyall Kristen et al. Molecular autism 2021 12(1) 24
Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults.
Karpen Saul J et al. Journal of pediatric gastroenterology and nutrition 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park Kyung Sun et al. Molecular genetics and metabolism reports 2021 27100734
Checkpoint-blocker-induced autoimmunity is associated with favourable outcome in metastatic melanoma and distinct T-cell expression profiles.
Ye Weiyu et al. British journal of cancer 2021
The Utility of Next-Generation Sequencing in Advanced Breast and Gynecologic Cancers.
Jones Terrell E et al. American journal of clinical pathology 2021
70-gene signature as an aid for treatment decisions in early breast cancer: updated results of the phase 3 randomised MINDACT trial with an exploratory analysis by age.
Piccart Martine et al. The Lancet. Oncology 2021
Fecal Multidimensional Assay for Non-Invasive Detection of Colorectal Cancer: Fecal Immunochemical Test, Stool DNA Mutation, Methylation, and Intestinal Bacteria Analysis.
Mo Shaobo et al. Frontiers in oncology 2021 11643136
Advanced NSCLC Patients With EGFR T790M Harboring TP53 R273C or KRAS G12V Cannot Benefit From Osimertinib Based on a Clinical Multicentre Study by Tissue and Liquid Biopsy.
Fu Yulong et al. Frontiers in oncology 2021 11621992
Prognostic and predictive effect of KRAS gene copy number and mutation status in early stage non-small cell lung cancer patients
Fung Andrea S et al. Translational lung cancer research 2021 10(2) 826-838
Familial pancreatic cancer: who should be considered for genetic testing?
Kartal Kinyas et al. Irish journal of medical science 2021
Experiences and attitudes of hereditary cancer screening patients in a consumer directed testing model.
Greve V et al. Patient education and counseling 2021 104(3) 473-479
Breast cancer risk and hormone replacement therapy among BRCA carriers after risk-reducing salpingo-oophorectomy.
Michaelson-Cohen Rachel et al. European journal of cancer (Oxford, England : 1990) 2021 14895-102
Exploring the Effects of Genomic Testing on Fear of Cancer Recurrence among Breast Cancer Survivors.
Gormley Maurade et al. Psycho-oncology 2021
Genetic testing and surgical treatment after breast cancer diagnosis: Results from a national online cohort.
Verdial Francys C et al. Journal of surgical oncology 2021
Correlation between family history and characteristics of breast cancer.
Liu Lei et al. Scientific reports 2021 11(1) 6360
Cancer surveillance awareness and practice among families at increased risk for pancreatic adenocarcinoma.
Everett Jessica N et al. Cancer 2021
Long-Term Colorectal Cancer Incidence and Mortality After Colonoscopy Screening According to Individuals' Risk Profiles.
Wang Kai et al. Journal of the National Cancer Institute 2021
Novel Genetic Variant Predicts Surgical Recurrence Risk in Crohn's Disease Patients.
Wang Ming-Hsi et al. Inflammatory bowel diseases 2021
Gene therapy companies have an ethical obligation to develop expanded access policies.
Kearns Lisa et al. Molecular therapy : the journal of the American Society of Gene Therapy 2021
Preparing genetic counselors to serve Native American communities.
Freeman Abigail A et al. Journal of genetic counseling 2021
Family-level impact of genetic testing: integrating health economics and ethical, legal, and social implications.
Smith Hadley Stevens et al. Personalized medicine 2021
Risks and benefits of human germline genome editing: An ethical analysis.
Rubeis Giovanni et al. Asian bioethics review 2018 10(2) 133-141
Scaling Genetic Counseling in the Genomics Era.
Amendola Laura M et al. Annual review of genomics and human genetics 2021
Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center.
Srinivasan Tarika et al. Journal of primary care & community health 2021 1221501327211000242
Heritable human genome editing: Research progress, ethical considerations, and hurdles to clinical practice.
Turocy Jenna et al. Cell 2021 184(6) 1561-1574
The current landscape of genetic test stewardship: A multi-center prospective study.
Kieke Michele C et al. Journal of genetic counseling 2021
Heart, Lung, Blood and Sleep Diseases
Genetic risk scores for cardiometabolic traits in sub-Saharan African populations.
Ekoru Kenneth et al. International journal of epidemiology 2021
The Crisis of Sickle Cell Disease in Africa from Insights into Primary Prevention in Ghana and Nigeria: Notes from the Field.
Ezenwa Miriam O et al. Journal of immigrant and minority health 2021
Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.
M Milewicz Dianna et al. The Journal of cardiovascular surgery 2021
Healthcare Utilization and Costs associated with Hereditary Hemorrhagic Telangiectasia Patients in a Large US Claims Database.
Hasan Albitar Hasan Ahmad et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2021 5(1) 55-64
Genomic Newborn Screening: Proposal of a Two-Stage Approach.
Schaaf Christian P et al. Journal of inherited metabolic disease 2021
Pharmacogenetic-guided glimepiride therapy in type-2 diabetes mellitus: a cost-effectiveness study.
Fokoun Cécile et al. The pharmacogenomics journal 2021
Clopidogrel Versus Ticagrelor or Prasugrel After Primary Percutaneous Coronary Intervention According to CYP2C19 Genotype: A POPular Genetics Subanalysis.
Claassens Daniel M F et al. Circulation. Cardiovascular interventions 2021 CIRCINTERVENTIONS120009434
A Retrospective Analysis of Actionable Pharmacogenetic/genomic Biomarker Language in FDA Labels.
Yamazaki Shinji et al. Clinical and translational science 2021
Impact of Pharmacogenomic Information on Values of Care and Quality of Life Associated with Codeine and Tramadol-Related Adverse Drug Events.
Zhu Ye et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2021 5(1) 35-45
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt Suzanne C E H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Prenatal Genetic Diagnosis of a Sex Chromosome Aneuploidy: Parent Experiences.
Riggan Kirsten A et al. Journal of genetic counseling 2021
A Rapid NGS-Based Preimplantation Genetic Testing for Chromosomal Abnormalities in Day-3 Blastomere Biopsy Allows Embryo Transfer Within the Same Treatment Cycle.
Ye Yinghui et al. Frontiers in genetics 2021 12636370
Dealing with uncertain results from chromosomal microarray and exome sequencing in the prenatal setting: an international cross-sectional study with healthcare professionals.
Lewis Celine et al. Prenatal diagnosis 2021