Published on 09/01/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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AnFiSA: An open-source computational platform for the analysis of sequencing data for rare genetic disease.
Bouzinier M A et al. Journal of biomedical informatics 2022 104174 -
AutoCaSc: Prioritizing candidate genes for neurodevelopmental disorders.
Lieberwirth Johann et al. Human mutation 2022 -
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai Abbe et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Periconception Red Blood Cell Folate and Offspring Congenital Heart Disease : Nested Case-Control and Mendelian Randomization Studies.
Chen Hongyan et al. Annals of internal medicine 2022 -
Detection of Structural Variants by NGS: Revealing Missing Alleles in Lysosomal Storage Diseases.
La Cognata Valentina et al. Biomedicines 2022 10(8) -
Health technology assessment of whole genome sequencing in the diagnosis of genetic disorders: a scoping review of the literature.
Nurchis Mario Cesare et al. International journal of technology assessment in health care 2022 38(1) e71
Cancer Genomics
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A novel age-related gene expression signature associates with proliferation and disease progression in breast cancer.
Ingebriktsen L M et al. British journal of cancer 2022 -
Comprehensive Approach to Genomic and Immune Profiling: Insights of a Real-World Experience in Gynecological Tumors.
Prieto-Potin Iván et al. Diagnostics (Basel, Switzerland) 2022 12(8) -
Integrating tumor mutational burden and transcriptome expression into prediction of immune checkpoint inhibitor response and prognosis of patients with colon cancer.
Liang L et al. Journal of physiology and pharmacology : an official journal of the Polish Physiological Society 2022 73(2)
Hereditary Cancer
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A validation of models for prediction of pathogenic variants in mismatch repair genes.
Shyr Cathy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Estimating lifetime risk for breast cancer as a screening tool for identifying those who would benefit from additional services among women utilizing mobile mammography.
Wetmore John B et al. Journal of cancer policy 2022 100354 -
Association between Health Insurance Type and Genetic Testing and/or Counseling for Breast and Ovarian Cancer.
Mansur Arian et al. Journal of personalized medicine 2022 12(8) -
Detection and Yield of Colorectal Cancer Surveillance in Adults with PTEN Hamartoma Tumour Syndrome.
Drissen Meggie M C M et al. Cancers 2022 14(16) -
BRCA Mutations in Ovarian and Prostate Cancer: Bench to Bedside.
Boussios Stergios et al. Cancers 2022 14(16) -
Impact of Distribution of a Tip Sheet to Increase Early Detection and Prevention Behavior among First-Degree Relatives of Melanoma Patients: A Randomized Cluster Trial.
Marcé Diane et al. Cancers 2022 14(16) -
Familial colorectal cancer.
Mangas-Sanjuan Carolina et al. Best practice & research. Clinical gastroenterology 2022 58-59101798 -
A pilot study investigating feasibility of mainstreaming germline BRCA1 and BRCA2 testing in high-risk patients with breast and/or ovarian cancer in three tertiary Cancer Centres in Ireland.
McVeigh Terri Patricia et al. Familial cancer 2022
Chronic Disease
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Screening of Accompanying First Degree Relatives of Patients with Primary Open Angle Glaucoma.
Paudyal Indira et al. Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH 2022 14(27) 4-9 -
Glaucoma Screening in Family Members of Glaucoma Patients at a Tertiary Eye Hospital in Eastern Region of Nepal.
Bhandari Ravi Dhar et al. Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH 2022 13(24) 128-136 -
Early onset obesity due to a mutation in the human leptin receptor gene.
Chaves Carolina et al. Endocrinology, diabetes & metabolism case reports 2022 2022
Ethics/Policy/Law
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Regulatory Consideration for the Nonclinical Safety Assessment of Gene Therapies.
Moffit Jeffrey S et al. Human gene therapy 2022 -
Heterogeneous attitudinal profiles towards gene editing: Evidence from latent class analysis.
Halstead Isaac N et al. Public understanding of science (Bristol, England) 2022 9636625221114608
Practice
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Approach to the patient with a variant of uncertain significance on genetic testing.
Newey Paul et al. Clinical endocrinology 2022 -
Real-World Evaluation of a Population Germline Genetic Screening Initiative for Family Medicine Patients.
Hutchcraft Megan Leigh et al. Journal of personalized medicine 2022 12(8) -
A Risk Calculator to Predict Suicide Attempts Among Individuals with Early-Onset Bipolar Disorder.
Goldstein Tina R et al. Bipolar disorders 2022
Heart, Lung, Blood and Sleep Diseases
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Developing a Hybrid Risk Assessment Tool for Familial Hypercholesterolemia: A Machine Learning Study of Chinese Arteriosclerotic Cardiovascular Disease Patients.
Wang Lei et al. Frontiers in cardiovascular medicine 2022 9893986 -
Debating the Future of Sickle Cell Disease Curative Therapy: Haploidentical Hematopoietic Stem Cell Transplantation vs. Gene Therapy.
Kassim Adetola A et al. Journal of clinical medicine 2022 11(16) -
Identifying genetic variants associated with the ICD10 (International Classification of Diseases10)-based diagnosis of cerebrovascular disease using a large-scale biomedical database.
Alkhalfan Fahad et al. PloS one 2022 17(8) e0273217 -
The Effectiveness of Nintedanib in Patients with Idiopathic Pulmonary Fibrosis, Familial Pulmonary Fibrosis and Progressive Fibrosing Interstitial Lung Diseases: A Real-World Study.
Cameli Paolo et al. Biomedicines 2022 10(8) -
Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.
Lippi Melania et al. Biomolecules 2022 12(8) -
Ancestry, Lipoprotein(a), and Cardiovascular Risk Thresholds: JACC Review Topic of the Week.
Tsimikas Sotirios et al. Journal of the American College of Cardiology 2022 80(9) 934-946 -
Polygenic Risk Score Predicts Sudden Death in Patients With Coronary Disease and Preserved Systolic Function.
Sandhu Roopinder K et al. Journal of the American College of Cardiology 2022 80(9) 873-883 -
Integrating the Biology of Cardiovascular Disease into the Epidemiology of Economic Decision Modelling via Mendelian Randomisation.
Ademi Zanfina et al. PharmacoEconomics 2022 -
Understanding the comorbidity between posttraumatic stress severity and coronary artery disease using genome-wide information and electronic health records.
Polimanti Renato et al. Molecular psychiatry 2022
Newborn Screening
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Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.
Bianchimani Chiara et al. International journal of neonatal screening 2022 8(3)
Pharmacogenomics
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A Mixed-Methods Protocol to Identify Best Practices for Implementing Pharmacogenetic Testing in Clinical Settings.
Sperber Nina R et al. Journal of personalized medicine 2022 12(8) -
The Role of Pharmacogenomics in Opioid Prescribing.
Wong Aaron K et al. Current treatment options in oncology 2022 -
Fetal pharmacogenomics: A promising addition to complex neonatal care.
Raymond Megan et al. Molecular genetics and metabolism 2022 137(1-2) 140-145
Reproductive Health
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Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set.
Richardson Ebony et al. Journal of personalized medicine 2022 12(8) -
Cost-Effectiveness of Exome Sequencing versus Targeted Gene Panels for Prenatal Diagnosis of Fetal Effusions and Non-Immune Hydrops Fetalis.
Avram Carmen M et al. American journal of obstetrics & gynecology MFM 2022 100724 -
A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach.
Doroftei Bogdan et al. Diagnostics (Basel, Switzerland) 2022 12(8) -
The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis.
Acreman Melissa L et al. American journal of obstetrics and gynecology 2022 -
Prenatal Exome and Genome Sequencing for Fetal Structural Abnormalities.
Vora Neeta L et al. American journal of obstetrics and gynecology 2022 -
Factors influencing patients' decision-making about preimplantation genetic testing for monogenic disorders.
Cheng Lin et al. Human reproduction (Oxford, England) 2022 -
False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?
Liehr Thomas et al. Molecular cytogenetics 2022 15(1) 36 -
How to choose a test for prenatal genetic diagnosis: a practical overview.
Sparks Teresa N et al. American journal of obstetrics and gynecology 2022 -
Investigating Attitudes Towards Prenatal Diagnosis and Fetal Therapy for Spinal Muscular Atrophy (SMA).
Schwab Marisa E et al. Prenatal diagnosis 2022