Published on 03/11/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Analysis of Copy Number Variations by Low-Depth Whole-Genome Sequencing in Fetuses with Congenital Cardiovascular Malformations.
Huang Jiwei et al. Cytogenetic and genome research 2021 1-7
Association of No-Cost Genetic Testing Program Implementation and Patient Characteristics With Access to Genetic Testing for Inherited Retinal Degenerations.
Zhao Peter Y et al. JAMA ophthalmology 2021
Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida
P Wolujewicz et al, Genetics in Medicine, March 8, 2021
Hope versus reality: Parent expectations of genomic testing.
Donohue Katherine E et al. Patient education and counseling 2021
Sequential and co-occurring DNA damage response genetic mutations impact survival in stage III colorectal cancer patients receiving adjuvant oxaliplatin-based chemotherapy.
Lin Peng-Chan et al. BMC cancer 2021 21(1) 217
Improvement of EGFR Testing over the Last Decade and Impact of Delaying TKI Initiation.
Blanc-Durand Félix et al. Current oncology (Toronto, Ont.) 2021 28(2) 1045-1055
Crizotinib in Patients With MET-Amplified NSCLC.
Camidge D Ross et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2021
Breast Cancer Patients at Increased Risk of Developing Type II Endometrial Cancer: Relative and Absolute Risk Estimation and Implications for Counseling.
Portela Sara et al. Cureus 2021 13(1) e12981
Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis.
Baroutsou Vasiliki et al. Cancers 2021 13(4)
The Knowledge and Attitude of Patients Diagnosed with Epithelial Ovarian Cancer towards Genetic Testing.
Shin Wonkyo et al. International journal of environmental research and public health 2021 18(5)
Gene Sequencing for Pathogenic Variants Among Adults With Breast and Ovarian Cancer in the Caribbean.
George Sophia H L et al. JAMA network open 2021 4(3) e210307
Healthy lifestyles, genetic modifiers, and colorectal cancer risk: a prospective cohort study in the UK Biobank.
Choi Jungyoon et al. The American journal of clinical nutrition 2021
Personalized Decision Making on Genomic Testing in Early Breast Cancer: Expanding the MINDACT Trial with Decision-Analytic Modeling.
Steyerberg Ewout W et al. Medical decision making : an international journal of the Society for Medical Decision Making 2021 272989X21991173
Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.
Crook Ashley et al. Journal of neurology 2021
A practical approach to the genomics of kidney disorders.
Hay Eleanor et al. Pediatric nephrology (Berlin, Germany) 2021
Shared genetic links between amyotrophic lateral sclerosis and obesity-related traits: a genome-wide association study.
Li Chunyu et al. Neurobiology of aging 2021
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.
Hoogmartens Julie et al. Alzheimer's & dementia (Amsterdam, Netherlands) 2021 13(1) e12155
Which bioethical and bio-legal guidelines should be followed when performing pharmacogenetic and pharmacogenomic tests in psychiatry clinical trials in Colombia, to protect genetic data and the rights of research subjects?
Pacheco Padrón Ana Patricia et al. Revista colombiana de psiquiatria 2021 50(1) 57-63
Genetic testing and genetic discrimination: Public policy when insurance becomes "too expensive".
Posey Lisa L et al. Journal of health economics 2021 77102441
Beyond Babies: Implications of Human Genome Editing for Women, Children, and Families.
M Farrell Ruth et al. Accountability in research 2021
Investigating the Adoption of Clinical Genomics in Australia. An Implementation Science Case Study.
Best Stephanie et al. Genes 2021 12(2)
Secondary Data Usage in Direct-to-Consumer Genetic Testing: To What Extent Are Customers Aware and Concerned?
Mladucky Janessa et al. Public health genomics 2021 1-8
Familial Risk Factors in Relation to Recurrent Depression Among Former Adolescent Psychiatric Inpatients.
Halonen Joonas et al. Child psychiatry and human development 2021
Direct to consumer genetic testing in Denmark-public knowledge, use, and attitudes.
Gerdes Anne-Marie et al. European journal of human genetics : EJHG 2021
Heart, Lung, Blood and Sleep Diseases
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
Hathaway Julie et al. BMC cardiovascular disorders 2021 21(1) 126
Detection of Familial Hypercholesterolemia through centralized analytical data. HF HUELVA DETECTA Program.
Gutiérrez-Cortizo Eva Nadiejda et al. Endocrinologia, diabetes y nutricion 2021
Health care resource utilization and costs among adult patients with hemophilia A on factor VIII prophylaxis: an administrative claims analysis.
Croteau Stacy E et al. Journal of managed care & specialty pharmacy 2021 27(3) 316-326
A survey of lifestyle habits, physician counseling, and direct-to consumer genetic testing in patients with hereditary hemochromatosis.
Koop Andree H et al. Clinics and research in hepatology and gastroenterology 2021 101658
Validation of an Integrated Risk Tool, Including Polygenic Risk Score, for Atherosclerotic Cardiovascular Disease in Multiple Ethnicities and Ancestries.
Weale Michael E et al. The American journal of cardiology 2021
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Sabatel-Pérez Fernando et al. Journal of clinical medicine 2021 10(4)
Prevention starts from the crib: the pediatric point of view on detection of families at high cardiovascular risk.
Capra Maria Elena et al. Italian journal of pediatrics 2021 47(1) 51
Informing Parents about Newborn Screening: A European Comparison Study.
IJzebrink Amber et al. International journal of neonatal screening 2021 7(1)
A single NGS based assay covering the entire genomic sequence of the DMD gene facilitates diagnostic and newborn screening confirmatory testing.
Nallamilli Babi R R et al. Human mutation 2021
Pharmacogenomics guided versus standard antidepressant treatment in a community pharmacy setting: A randomized controlled trial.
Papastergiou John et al. Clinical and translational science 2021
The phenomics and genetics of addictive and affective comorbidity in opioid use disorder.
Freda Philip J et al. Drug and alcohol dependence 2021 221108602
Developing a gene panel for pharmacoresistant epilepsy: a review of epilepsy pharmacogenetics.
Rodriguez-Acevedo Astrid J et al. Pharmacogenomics 2021
Fertility preservation in patients with BRCA mutations or Lynch syndrome.
Corrado Giacomo et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2021 31(3) 332-338
Validation of preimplantation genetic tests for aneuploidy (PGT-A) with DNA from spent culture media (SCM): concordance assessment and implication.
Yin Baoli et al. Reproductive biology and endocrinology : RB&E 2021 19(1) 41