Published on 12/22/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Room to improve: The diagnostic journey of Spinal Muscular Atrophy.
Carter Michael et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022 4242-46 -
The Language Profile of Preschool Children With 22q11.2 Deletion Syndrome and the Relationship With Speech Intelligibility.
Everaert Emma et al. American journal of speech-language pathology 2022 1-17
Cancer Genomics
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Updated ASCO guidelines for patients with HER2-positive breast cancer.
et al. Cancer 2022 129(1) 10 -
Cancer patient management: Current use of next-generation sequencing in the EU TOP4.
Hedblom Amanda Hansson et al. Journal of cancer policy 2022 35100376 -
Integrated spatial analysis of gene mutation and gene expression for understanding tumor diversity in formalin-fixed paraffin-embedded lung adenocarcinoma.
Yamazaki Miki et al. Frontiers in oncology 2022 12936190
Hereditary Cancer
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Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease.
Jiao Yue et al. European journal of cancer (Oxford, England : 1990) 2022 17976-86 -
Family History of Prostate Cancer and Survival Outcomes in the UK Genetic Prostate Cancer Study.
Brook Mark N et al. European urology 2022 -
A combined clinical and genetic model for predicting risk of ovarian cancer.
Dite Gillian S et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2022 32(1) 57-64 -
Understanding cancer genetic risk assessment motivations in a remote tailored risk communication and navigation intervention randomized controlled trial.
Le Compte Circe Gray et al. Health psychology and behavioral medicine 2022 10(1) 1190-1215 -
How do young people with a hereditary cancer predisposition syndrome understand and experience cancer survivorship?
Werner-Lin Allison et al. Psycho-oncology 2022
Chronic Disease
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Changes in the gut microbiota of osteoporosis patients based on 16S rRNA gene sequencing: a systematic review and meta-analysis.
Huang Rui et al. Journal of Zhejiang University. Science. B 2022 23(12) 1002-1013 -
Diagnostic Test Accuracy of Genetic Tests in Diagnosing Psoriasis: A Systematic Review.
Mirghani Hyder et al. Cureus 2022 14(11) e31338 -
Transferability of Alzheimer Disease Polygenic Risk Score Across Populations and Its Association With Alzheimer Disease-Related Phenotypes.
Jung Sang-Hyuk et al. JAMA network open 2022 5(12) e2247162
Ethics/Policy/Law
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Somatic Gene Therapy Research in Pediatric Populations: Ethical Issues and Guidance for Operationalizing Early Phase Trials.
Bateman-House Alison et al. Pharmaceutical medicine 2022 -
Exploring access to genomic risk information and the contours of the HIPAA public health exception.
Wagner Jennifer K et al. Journal of law and the biosciences 2022 9(2) lsac034 -
Words matter: The language of difference in human genetics.
Cho Mildred K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Practice
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Evaluating the impact of a new educational tool on understanding of polygenic risk scores for alcohol use disorder.
Driver Morgan N et al. Frontiers in psychiatry 2022 131025483 -
Evaluation of out-of-pocket pay genetic testing in a publicly funded healthcare system.
Grant Peter et al. Clinical genetics 2022 -
Editorial: New omics research challenges for Public and sustainable Health.
Traversi Deborah et al. Frontiers in microbiology 2022 131078865 -
A Polygenic Risk Score Enhances Risk Prediction for Adolescents' Antisocial Behavior over the Combined Effect of 22 Extra-familial, Familial, and Individual Risk Factors in the Context of the Family Check-Up.
Wang Frances L et al. Prevention science : the official journal of the Society for Prevention Research 2022 -
Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.
Mavraki Eleni et al. European journal of human genetics : EJHG 2022 -
The implementation of large-scale genomic screening or diagnostic programmes: A rapid evidence review.
Alarcón Garavito Germán Andrés et al. European journal of human genetics : EJHG 2022 -
The PrU: development and validation of a measure to assess personal utility of genomic results.
Turbitt Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans.
Kimbrel Nathan A et al. JAMA psychiatry 2022
Heart, Lung, Blood and Sleep Diseases
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Laser therapy for retinopathy in sickle cell disease.
Myint Kay Thi et al. The Cochrane database of systematic reviews 2022 12(12) CD010790 -
Understanding how educational interventions improve treatment adherence in patients with familial hypercholesterolaemia: a systematic review.
Massey Hannah et al. Journal of community genetics 2022 -
Interventions for the eradication of meticillin-resistant Staphylococcus aureus (MRSA) in people with cystic fibrosis.
Lo David Kh et al. The Cochrane database of systematic reviews 2022 12CD009650 -
Characterisation and long-term follow-up of children with Brugada syndrome: experience from a tertiary paediatric referral centre.
Fernandes Sara I L et al. Cardiology in the young 2022 1-6 -
Evaluating feasibility of using national registries for identification, invitation, and ultrasound examination of persons with hereditary risk for aneurysm disease-detecting abdominal aortic aneurysms in first degree relatives (adult offspring) to AAA patients (DAAAD).
Hultgren Rebecka et al. Pilot and feasibility studies 2022 8(1) 252 -
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi Caterina et al. Haematologica 2022 -
Basic biochemical and hematological parameters of structural hemoglobin variants in the postpartum women and their respective newborn from Manaus, Amazonas, Brazil.
da Silva Brito Roberta et al. BMC pregnancy and childbirth 2022 22(1) 936
Newborn Screening
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Variation in Cystic Fibrosis Newborn Screening Algorithms in the United States.
Rehani Maryann R et al. Pediatric pulmonology 2022 -
High rates of anxiety detected in mothers of children with inconclusive cystic fibrosis screening results.
Ginsburg Daniella K et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022 -
Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening.
Pierpont Elizabeth I et al. Journal of inherited metabolic disease 2022 -
Addition of Galactose-1-phosphate measurement enhances newborn screening for classical galactosemia.
Daas Suha et al. Journal of inherited metabolic disease 2022
Pharmacogenomics
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Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services.
Pasternak Amy L et al. Clinical and translational science 2022 -
Genome-Wide Association Study Identifies Copy Number Variants Associated with Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans.
Zhang Honghong et al. Clinical pharmacology and therapeutics 2022 -
Analysis of Human Leukocyte Antigen DR Alleles, Immune-Related Adverse Events, and Survival Associated With Immune Checkpoint Inhibitor Use Among Patients With Advanced Malignant Melanoma.
Akturk Halis Kaan et al. JAMA network open 2022 5(12) e2246400 -
Pharmacogenetics of warfarin and healthcare costs - real-world data analysis.
Lähteenmäki Jaakko et al. Pharmacoepidemiology and drug safety 2022
Reproductive Health
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Prenatal exome sequencing and impact on perinatal outcome: cohort study.
Poljak B et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2022 -
Effectiveness of Smartphone-Based Lifestyle Interventions on Women with Gestational Diabetes: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Wang Hongjuan et al. Psychology research and behavior management 2022 153541-3559 -
Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan Jeffrey S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Development and performance evaluation of an artificial intelligence algorithm using cell-free DNA fragment distance for non-invasive prenatal testing (aiD-NIPT).
Lee Junnam et al. Frontiers in genetics 2022 13999587 -
Combined use of karyotyping and copy number variation sequencing technology in prenatal diagnosis.
Zhang Suhua et al. PeerJ 2022 10e14400 -
Combined Model-Based Prediction for Non-Invasive Prenatal Screening.
Yang So-Yun et al. International journal of molecular sciences 2022 23(23)