Published on 04/28/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Common data elements to standardize genomics studies in cerebral palsy.
Wilson Yana A et al. Developmental medicine and child neurology 2022 -
Disease Progression Stages and Burden in Patients with Duchenne Muscular Dystrophy Using Administrative Claims Supplemented by Electronic Medical Records.
Iff Joel et al. Advances in therapy 2022 -
The Genomics of Congenital Diaphragmatic Hernia: A 10 Year Retrospective Review.
Wild K Taylor et al. The Journal of pediatrics 2022 -
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet Anaïs F et al. International journal of molecular sciences 2022 23(8) -
Onasemnogene abeparvovec for the treatment of spinal muscular atrophy.
McMillan Hugh J et al. Expert opinion on biological therapy 2022 -
Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
Diaby Vakaramoko et al. The pharmacogenomics journal 2022 -
Impact of Genetic and Genomic Testing on the Clinical Management of Patients with Autism Spectrum Disorder.
Stafford Christine F et al. Genes 2022 13(4)
Cancer Genomics
-
Precision Medicine Testing and Disparities in Health Care for Individuals With Non-Small Cell Lung Cancer: A Narrative Review.
Curtin Martha et al. Oncology nursing forum 2022 49(3) 257-272 -
Clinical utility and performance of an ultra-rapid multiplex RNA-based assay for detection of ALK, ROS1, RET and NTRK1/2/3 rearrangements and MET exon 14 skipping alterations.
Chu Ying-Hsia et al. The Journal of molecular diagnostics : JMD 2022 -
Mutation-tailored treatment selection in non-small cell lung cancer patients in daily clinical practice.
Steeghs Elisabeth M P et al. Lung cancer (Amsterdam, Netherlands) 2022 16787-97 -
Association of Elevated Expression Levels of COL4A1 in Stromal Cells with an Immunosuppressive Tumor Microenvironment in Low-Grade Glioma, Pancreatic Adenocarcinoma, Skin Cutaneous Melanoma, and Stomach Adenocarcinoma.
Shin Hyo-Jae et al. Journal of personalized medicine 2022 12(4) -
Next Generation Sequencing and Molecular Biomarkers in Ovarian Cancer-An Opportunity for Targeted Therapy.
Harbin Laura M et al. Diagnostics (Basel, Switzerland) 2022 12(4) -
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
Trotman Jamie et al. British journal of cancer 2022 -
The Clinically Actionable Molecular Profile of Early versus Late-Stage Non-Small Cell Lung Cancer, an Individual Age and Sex Propensity-Matched Pair Analysis.
McGuire Anna L et al. Current oncology (Toronto, Ont.) 2022 29(4) 2630-2643 -
Patient attendance at molecular tumor board: A new means of shared decision making?
Cannon Timothy Lewis et al. Current problems in cancer 2022 46(3) 100860 -
Genomic landscape of sporadic pediatric differentiated thyroid cancers: a systematic review and meta-analysis.
Satapathy Swayamjeet et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Hereditary Cancer
-
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases.
Zeng Chenjie et al. JAMA oncology 2022 -
A Phenome-Wide Association Study and the Discovery of a New Clinical Spectrum of Hereditary Cancer Genes.
Yang Kailin et al. JAMA oncology 2022 -
Initial screening by immunohistochemistry is effective in universal screening for Lynch syndrome in endometrial cancer patients: a prospective observational study.
Tsuruta Tomohiko et al. Japanese journal of clinical oncology 2022 -
Screening and risk reducing surgery for endometrial or ovarian cancers in Lynch syndrome: a systematic review.
Lim Natalie et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2022 -
Identifying patients with Lynch syndrome using a universal tumor screening program in an integrated healthcare system.
Crain Philip R et al. Hereditary cancer in clinical practice 2022 20(1) 17 -
Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing.
Frey Melissa K et al. American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting 2022 421-12
Chronic Disease
-
Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.
Alvarez-Mora Maria Isabel et al. International journal of molecular sciences 2022 23(8) -
Clinicians' and Researchers' Views on Precision Medicine in Chronic Inflammation: Practices, Benefits and Challenges.
Erdmann Anke et al. Journal of personalized medicine 2022 12(4) -
Familial Mediterranean Fever: How to Interpret Genetic Results? How to Treat? A Quarter of a Century After the Association with the Mefv Gene.
Batu Ezgi Deniz et al. Current rheumatology reports 2022
Ethics/Policy/Law
-
Considerations of Autonomy in Guiding Decisions around the Feedback of Individual Genetic Research Results from Genomics Research: Expectations of and Preferences from Researchers in Botswana.
Kasule Mary et al. Global health, epidemiology and genomics 2022 20223245206 -
Walking a Fine Germline: Synthesizing Public Opinion and Legal Precedent to Develop Policy Recommendations for Heritable Gene-Editing.
Benston Shawna et al. Journal of bioethical inquiry 2022 -
Diversity, Profit, Control: An Empirical Study of Industry Employees' Views on Ethics in Private Sector Genomics.
Walker Alexis et al. AJOB empirical bioethics 2022 1-13
Practice
-
Editorial: Clinical Genome Sequencing: Bioinformatics Challenges and Key Considerations.
Tian Shulan et al. Frontiers in genetics 2022 13896032 -
Telehealth in Genetics: The Genetic Counselor Perspective on the Utility of Telehealth in Response to the COVID-19 Pandemic in Wisconsin.
Choi Sarah H et al. WMJ : official publication of the State Medical Society of Wisconsin 2022 121(1) 41-47 -
The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.
Chin Hui-Lin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Improving gender-affirming care in genetic counseling: Using educational tools that amplify transgender and/or gender non-binary community voices.
Huser Nicole et al. Journal of genetic counseling 2022 -
Investigating factors that influence genetic counselors' decisions to refer patients to mental health providers.
Hayes Taylor et al. Journal of genetic counseling 2022 -
Polygenic risk score as a possible tool for identifying familial monogenic causes of complex diseases.
Lu Tianyuan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Development of a clinical polygenic risk score assay and reporting workflow.
Hao Limin et al. Nature medicine 2022 -
Analyzing Precision Medicine Utilization with Real-World Data: A Scoping Review.
Douglas Michael P et al. Journal of personalized medicine 2022 12(4) -
The Challenge of Genetic Variants of Uncertain Clinical Significance : A Narrative Review.
Burke Wylie et al. Annals of internal medicine 2022
Heart, Lung, Blood and Sleep Diseases
-
DNA Sequencing Analysis of Cystic Fibrosis Transmembrane Regulator Gene Identifies Cystic Fibrosis-Associated Variants in the Severe Asthma Research Program.
Izquierdo Manuel E et al. Pediatric pulmonology 2022 -
Effect of Occurrence of Lamin A/C (LMNA) Genetic Variants in a Cohort of 101 Consecutive Apparent "Lone AF" Patients: Results and Insights.
Pessente Gabrielle D'Arezzo et al. Frontiers in cardiovascular medicine 2022 9823717 -
LDL-C Concentrations and the 12-SNP LDL-C Score for Polygenic Hypercholesterolaemia in Self-Reported South Asian, Black and Caribbean Participants of the UK Biobank.
Gratton Jasmine et al. Frontiers in genetics 2022 13845498 -
Occurrence of Cystic Fibrosis Transmembrane Conductance Regulator Gene Mutations in Patients with Allergic Bronchopulmonary Aspergillosis Complicating Asthma.
Kanaujia Rimjhim et al. Mycopathologia 2022 -
Association of Lipoprotein (a) in Coronary Artery Disease in Young Individuals.
Patted Aishwarya et al. The Journal of the Association of Physicians of India 2022 70(4) 11-12 -
Parents' Experiences and Needs Regarding Infant Sickle Cell Trait Results.
Sims Alexandra M et al. Pediatrics 2022 -
Cardiology clinic patient attitudes toward and potential personal utility of genetic testing: Findings from a unique multiracial clinical sample.
Erickson Claire M et al. Journal of genetic counseling 2022 -
Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway.
Mundal Liv J et al. JAMA network open 2022 5(4) e227715 -
Methylenetetrahydrofolate Reductase Polymorphism (rs1801133) and the Risk of Hypertension among African Populations: A Narrative Synthesis of Literature.
Mabhida Sihle E et al. Genes 2022 13(4) -
Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH Protocol.
Jones Laney K et al. Journal of personalized medicine 2022 12(4)
Newborn Screening
-
'We're kind of like genetic nomads': Parents' experiences of biographical disruption and uncertainty following in/conclusive results from newborn cystic fibrosis screening.
Boardman Felicity et al. Social science & medicine (1982) 2022 301114972
Pharmacogenomics
-
Ethnic Diversity and Warfarin Pharmacogenomics.
Asiimwe Innocent G et al. Frontiers in pharmacology 2022 13866058 -
Associations between the C3orf20 rs12496846 Polymorphism and Both Postoperative Analgesia after Orthognathic and Abdominal Surgeries and C3orf20 Gene Expression in the Brain.
Nishizawa Daisuke et al. Pharmaceutics 2022 14(4) -
Antidepressant Treatment and Manic Switch in Bipolar I Disorder: A Clinical and Molecular Genetic Study.
Chen Chih-Ken et al. Journal of personalized medicine 2022 12(4)
Reproductive Health
-
Preconception leisure-time physical activity and family history of stroke and myocardial infarction associate with preterm delivery: findings from a Norwegian cohort.
Engen Tone et al. BMC pregnancy and childbirth 2022 22(1) 341 -
Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
Cao Y et al. Prenatal diagnosis 2022 -
Clinical re-biopsy of segmental gains-the primary source of preimplantation genetic testing false positives.
Grkovic Steve et al. Journal of assisted reproduction and genetics 2022 -
A systematic review and standardized clinical validity assessment of genes involved in female reproductive failure.
Volozonoka Ludmila et al. Reproduction (Cambridge, England) 2022 163(6) 351-363 -
Prenatal genetic counseling practices regarding recommendations for cancer genetic counseling: A retrospective chart review from two academic institutions.
Saba Lisa F et al. Journal of genetic counseling 2022