Published on 05/05/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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A machine learning-based screening tool for genetic syndromes in children.
Mensah Martin Atta et al. The Lancet. Digital health 2022 4(5) e295 -
The Hereditary Nature of Adolescent Spinal Deformities-A study of over 600,000 adolescents.
Zloof Yair et al. Spine 2022 -
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of CLN2 Batten disease.
Leal-Pardinas Fernanda et al. Epilepsia 2022
Cancer Genomics
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Blood-Based Next-Generation Sequencing in Adrenocortical Carcinoma.
Nazha Bassel et al. The oncologist 2022 -
Real-World Study of Characteristics and Treatment Outcomes Among Patients with KRAS p.G12C-Mutated or Other KRAS Mutated Metastatic Colorectal Cancer.
Fakih Marwan et al. The oncologist 2022 -
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy Turki M et al. BMC medical genomics 2022 15(1) 95 -
Adjuvant treatment in early-stage endometrial cancer: context-dependent impact of somatic CTNNB1 mutation on recurrence-free survival.
Kurnit Katherine C et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2022 -
Germline Pathogenic Variants Impact Clinicopathology of Advanced Lung Cancer.
Mukherjee Semanti et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 -
Utility of multimodality molecular profiling for pediatric patients with central nervous system tumors.
Rajappa Prajwal et al. Neuro-oncology advances 2022 4(1) vdac031 -
Performance of Idylla RAS-BRAF mutation test for formalin-fixed paraffin-embedded tissues of colorectal cancer.
Makutani Yusuke et al. International journal of clinical oncology 2022 -
Technical Validation and Clinical Utility of an NGS Targeted Panel to Improve Molecular Characterization of Pediatric Acute Leukemia.
Vicente-Garcés Clara et al. Frontiers in molecular biosciences 2022 9854098
Hereditary Cancer
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Management of BRCA Tumour Testing in an Integrated Molecular Tumour Board Multidisciplinary Model.
Azzollini Jacopo et al. Frontiers in oncology 2022 12857515 -
Psychological predictors of cancer patients' and their relatives' attitudes towards the return of genomic sequencing results.
Meiser Bettina et al. European journal of medical genetics 2022 65(6) 104516 -
Attitudes and interest in incorporating BRCA1/2 cancer susceptibility testing into reproductive carrier screening for Ashkenazi Jewish men and women.
Hardy Melanie W et al. Journal of community genetics 2022 1-12 -
The clinical features and management of Lynch syndrome-associated ovarian cancer.
Ran Xuting et al. The journal of obstetrics and gynaecology research 2022 -
Overlap of high-risk individuals predicted by family history, and genetic and non-genetic breast cancer risk prediction models: implications for risk stratification.
Ho Peh Joo et al. BMC medicine 2022 20(1) 150 -
Utility of germline multi-gene panel testing in patients with endometrial cancer.
Karpel Hannah C et al. Gynecologic oncology 2022 -
Increased Number Of Colorectal Interval Cancers In Lynch Syndrome After The SARS-CoV-2 Pandemic. A Survey-based Study.
Russo Michele et al. Digestive diseases (Basel, Switzerland) 2022 -
Significance of rare variants in genes involved in the pathogenesis of Lynch syndrome.
Liccardo Raffaella et al. International journal of molecular medicine 2022 49(6) -
Genetic risk factors in melanoma etiopathogenesis and the role of genetic counseling: A concise review.
Serman Nikola et al. Bosnian journal of basic medical sciences 2022
Chronic Disease
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Apolipoprotein L1 Opinions of African American Living Kidney Donors, Kidney Transplant Patients, and Nonpatients.
Harris Dwight D et al. The Journal of surgical research 2022 277116-124 -
Predicting Amyloid Positivity in Cognitively Unimpaired Older Adults: A Machine Learning Approach Using the A4 Data.
Petersen Kellen K et al. Neurology 2022 -
Effects of Apolipoprotein E ɛ4 and Risk Factors on Domains of Cognition in Mild Cognitive Impairment and Dementia.
Han Seung-Hyup et al. Journal of Alzheimer's disease : JAD 2022
Ethics/Policy/Law
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Perspectives on choice of law challenges in multistate precision medicine research.
Beskow Laura M et al. Journal of law and the biosciences 2022 9(1) lsac010 -
Ethical Considerations in Research with Genomic Data.
Horton Rachel et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2022 1-15
Practice
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The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review.
Kumuthini Judit et al. Human genetics 2022 1-8 -
Returning individual research results in international direct-to-participant genomic research: results from a 31-country study.
Lang Michael et al. European journal of human genetics : EJHG 2022 -
A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources.
Wiley Ken et al. Journal of the American Medical Informatics Association : JAMIA 2022 -
A pragmatic implementation research study for In Our DNA SC: a protocol to identify multi-level factors that support the implementation of a population-wide genomic screening initiative in diverse populations.
Allen Caitlin G et al. Implementation science communications 2022 3(1) 48 -
Rapid implementation of telegenetic services during the COVID-19 pandemic allowed continuing patient access, but not equally for all.
Noss Ryan et al. Health and technology 2022 1-6
Heart, Lung, Blood and Sleep Diseases
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Burden of disease, treatment utilization, and the impact on education and employment in patients with sickle cell disease: A comparative analysis of high- and low- to middle-income countries for the international Sickle Cell World Assessment Survey (SWAY).
Osunkwo Ifeyinwa et al. American journal of hematology 2022 -
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Resdal Dyssekilde Johnni et al. Journal of the American Heart Association 2022 e025643 -
Establishment of a Dedicated Inherited Cardiomyopathy Clinic: From Challenges to Improved Patients' Outcome.
Smith Emily et al. Journal of the American Heart Association 2022 e024501 -
Atherosclerotic cardiovascular disease burden in patients with familial hypercholesterolemia: interpretation of data on involvement of different vascular beds.
Dobrowolski Piotr et al. Polish archives of internal medicine 2022 132(4) -
A Model for the Integration of Genome Sequencing into a Paediatric Cardiology Clinic.
Liston Eriskay J et al. The Canadian journal of cardiology 2022
Newborn Screening
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COVID-19 Pandemic-Related Impacts on Newborn Screening Public Health Surveillance.
Singh Sikha et al. International journal of neonatal screening 2022 8(2) -
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Burlina Alberto et al. International journal of neonatal screening 2022 8(2)
Pharmacogenomics
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Predicting Potential Drug-Drug-Gene Interactions in a Population of Individuals Utilizing a Community-Based Pharmacy.
Dowd Daniel et al. CNS spectrums 2022 27(2) 236-237 -
Use of MRP8/14 in clinical practice as a predictor of outcome after methotrexate withdrawal in patients with juvenile idiopathic arthritis.
Sumner Emma J et al. Clinical rheumatology 2022 -
Pharmacogenomics in clinical practice to prevent risperidone-induced hyperprolactinemia in autism spectrum disorder.
Biswas Mohitosh et al. Pharmacogenomics 2022
Reproductive Health
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A systematic review to guide future efforts in the determination of genetic causes of pregnancy loss.
Carey Andrew Z et al. Frontiers in reproductive health 2022 3 -
Non-Invasive Prenatal Diagnosis of Single Gene Disorders by Paternal Mutation Exclusion: Three Years of Clinical Experience.
Pacault Mathilde et al. BJOG : an international journal of obstetrics and gynaecology 2022