Published on 11/03/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic testing and counseling for the unexplained epilepsies: An evidence-based practice guideline of the National Society of Genetic Counselors.
Smith Lacey et al. Journal of genetic counseling 2022 -
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.
Srivastava Siddharth et al. JAMA neurology 2022 -
Influence of Parent-of-Origin on Intellectual Outcomes in the Chromosome 22q11.2 Deletion Syndrome.
McGinn Daniel E et al. Genes 2022 13(10) -
Considering the Genetic Architecture of Hypoplastic Left Heart Syndrome.
Belmont John W et al. Journal of cardiovascular development and disease 2022 9(10)
Cancer Genomics
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Routine molecular profiling in both resectable and unresectable pancreatic adenocarcinoma: relevance of cytological samples.
Redegalli Miriam et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2022 -
Developing an effective quality evaluation strategy of next-generation sequencing for accurate detecting non-small cell lung cancer samples with variable characteristics: a real-world clinical practice.
Rao Wei et al. Journal of cancer research and clinical oncology 2022 -
A comparison of DNA sequencing and gene-expression profiling to assist tissue of origin diagnosis in cancer of unknown primary.
Posner Atara et al. The Journal of pathology 2022 -
Prognostic Role of DNA Damage Response Genes Mutations and their Association With the Sensitivity of Olaparib in Prostate Cancer Patients.
Zhang Dong et al. Cancer control : journal of the Moffitt Cancer Center 2022 2910732748221129451 -
Reclassification of risk of malignancy with Percepta Genomic Sequencing Classifier following nondiagnostic bronchoscopy.
Raval Abhijit A et al. Respiratory medicine 2022 204106990 -
Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study.
Smith Hadley Stevens et al. Circulation. Genomic and precision medicine 2022 e003605 -
The 17-Gene Genomic Prostate Score® Test is Prognostic for Outcomes after Primary External Beam Radiation Therapy in Men with Clinically Localized Prostate Cancer.
Janes Jessica L et al. International journal of radiation oncology, biology, physics 2022
Hereditary Cancer
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Increasing Skin Cancer Prevention in Young Adults: the Cumulative Impact of Personalized UV Photography and MC1R Genetic Testing.
Wu Yelena P et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2022 -
Comparison of Germline Genetic Testing Before and After a Medical Policy Covering Universal Testing Among Patients With Colorectal Cancer.
Moretz Chad et al. JAMA network open 2022 5(10) e2238167 -
What happens in the long term: Uptake of cancer surveillance and prevention strategies among at-risk relatives with pathogenic variants detected via cascade testing.
Frey Melissa K et al. Cancer 2022 -
Awareness, Knowledge, Perceptions, and Attitudes towards Familial and Inherited Cancer.
Alghuson Lolowah et al. Medicina (Kaunas, Lithuania) 2022 58(10) -
Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort.
Sarki Mahesh et al. Journal of personalized medicine 2022 12(10) -
Communicating Personal Melanoma Polygenic Risk Information: Participants' Experiences of Genetic Counseling in a Community-Based Study.
Smit Amelia K et al. Journal of personalized medicine 2022 12(10) -
Association between A Family History of Colorectal Cancer and the Risk of Colorectal Cancer: A Nationwide Population-Based Study.
Jung Yoon Suk et al. Journal of personalized medicine 2022 12(10) -
Application of Multigene Panels Testing for Hereditary Cancer Syndromes.
Bilyalov Airat et al. Biology 2022 11(10) -
Evaluation of family history in individuals with heterozygous BRCA pathogenic variants diagnosed with breast or ovarian cancer in a single center in Italy.
Negri Serena et al. Molecular genetics & genomic medicine 2022 e2071 -
A Cluster Randomized Trial of a Family Health History Platform to Identify and Manage Patients at Increased Risk for Colorectal Cancer.
Voils Corrine I et al. Journal of general internal medicine 2022 -
Interdisciplinary risk counseling for hereditary breast and ovarian cancer: real-world data from a specialized center.
Zang Benedikt et al. Archives of gynecology and obstetrics 2022
Chronic Disease
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Genomic Disorders in Chronic Kidney Disease Across the Lifespan.
Verbitsky Miguel et al. Journal of the American Society of Nephrology : JASN 2022 -
MicroRNAs in Irritable Bowel Syndrome: a Systematic Review.
Yanai Katsunori et al. Discovery medicine 2022 34(171) 7-18 -
Predicting Progression of Autosomal Dominant Polycystic Kidney Disease by Changes in the Telomeric Epigenome.
Kocyigit Ismail et al. Cells 2022 11(20) -
Milder loss of insulin-containing islets in individuals with type 1 diabetes and type 2 diabetes-associated TCF7L2 genetic variants.
Redondo Maria J et al. Diabetologia 2022 -
Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals.
Hollitt Georgina L et al. Translational vision science & technology 2022 11(10) 38
Ethics/Policy/Law
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Newborn Screening Is on a Collision Course with Public Health Ethics.
Currier Robert J et al. International journal of neonatal screening 2022 8(4) -
Incidental Findings in Study Participants: What Is the Researcher's Obligation?
Schaare Donna et al. Genes 2022 13(10)
Practice
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Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.
Dron Heather A et al. Journal of genetic counseling 2022 -
VariantAlert: a web-based tool to notify updates in genetic variant annotations.
Atzeni Rossano et al. Human mutation 2022 -
Psychiatric genetic counseling for patients with schizophrenia and their families.
Kotzé Carla et al. Frontiers in psychiatry 2022 131014069 -
Using genomic profiling for understanding and improving response to smoking cessation treatment.
Bierut Laura J et al. Current epidemiology reports 2022 6(4) 486-490
Heart, Lung, Blood and Sleep Diseases
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Whole exome sequencing in Brugada and long QT syndromes revealed novel rare and potential pathogenic mutations related to the dysfunction of the cardiac sodium channel.
Chen Jia et al. Orphanet journal of rare diseases 2022 17(1) 394 -
The addition of genetic testing and cardiovascular magnetic resonance to routine clinical data for stratification of etiology in dilated cardiomyopathy.
Amin Ravi J et al. Frontiers in cardiovascular medicine 2022 91017119 -
Gene therapy for cystic fibrosis: Challenges and prospects.
Sui Hongshu et al. Frontiers in pharmacology 2022 131015926 -
Sickle cell disease among Latinx in California.
Valle Jhaqueline et al. PloS one 2022 17(10) e0276653 -
Perioperative Management and Clinical Outcomes of Liver Transplantation for Children with Homozygous Familial Hypercholesterolemia.
Qiu Huan-Rong et al. Medicina (Kaunas, Lithuania) 2022 58(10) -
A Health Literate Approach to Address Health Disparities: a Virtual Program for Parents of Children with Sickle Cell Trait.
Abrams Mary Ann et al. Journal of communication in healthcare 2022 15(2) 112-120 -
Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.
Mazzaccara Cristina et al. Biomolecules 2022 12(10) -
Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.
Bhai Pratibha et al. Current oncology (Toronto, Ont.) 2022 29(10) 7209-7217 -
Newly Discovered Cutting-Edge Triple Combination Cystic Fibrosis Therapy: A Systematic Review.
Dawood Sarah N et al. Cureus 2022 14(9) e29359 -
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Nauffal Victor et al. European heart journal 2022 42(38) 3932-3944 -
Genetic profile in patients with complicated acute aortic syndrome: the GEN-AOR study.
Moreno Antonio M Puppo et al. Revista espanola de cardiologia (English ed.) 2022
Newborn Screening
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Parental Preferences about Policy Options Regarding Disclosure of Incidental Genetic Findings in Newborn Screening: Using Videos and the Internet to Educate and Obtain Input.
Farrell Michael H et al. International journal of neonatal screening 2022 8(4) -
Psychosocial Issues Related to Newborn Screening: A Systematic Review and Synthesis.
Tluczek Audrey et al. International journal of neonatal screening 2022 8(4) -
Newborn Screening for Duchenne Muscular Dystrophy: First Year Results of a Population-Based Pilot.
Hartnett Michael J et al. International journal of neonatal screening 2022 8(4) -
California's experience with SMA newborn screening: A successful path to early intervention.
Matteson Jamie et al. Journal of neuromuscular diseases 2022
Pharmacogenomics
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Clinical utility of pharmacogenetics in a psychiatric and primary care population.
Bohlen Krista N et al. The pharmacogenomics journal 2022 -
Role of Pharmacogenomics in Comprehensive Medication Management: Considerations for Employers.
Fragala Maren S et al. Population health management 2022 -
Is the CYP2D6 Genotype Associated with Antipsychotic-Induced Weight Gain?
Jürgens Gesche et al. Journal of personalized medicine 2022 12(10) -
Public Attitudes toward Pharmacogenomic Testing and Establishing a Statewide Pharmacogenomics Database in the State of Minnesota.
Zhang Lusi et al. Journal of personalized medicine 2022 12(10)
Reproductive Health
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The aneuploidy testing of blastocysts developing from 0PN and 1PN zygotes in conventional IVF through TE-biopsy PGT-A and minimally invasive PGT-A.
Zhao Haijing et al. Frontiers in reproductive health 2022 4966909 -
Polygenic Risk Score Prediction for Endometriosis.
Kloeve-Mogensen Kirstine et al. Frontiers in reproductive health 2022 3793226 -
Invasive Prenatal Diagnostic Testing for Aneuploidies in Singleton Pregnancies: A Comparative Review of Major Guidelines.
Giovannopoulou Eirini et al. Medicina (Kaunas, Lithuania) 2022 58(10) -
Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review.
Edwards Samantha et al. Journal of personalized medicine 2022 12(10) -
Views of reproductive genetic carrier screening participants regarding screening for genes associated with non-syndromic hearing loss.
Freeman Lucinda et al. Prenatal diagnosis 2022 -
Application of exome sequencing for prenatal diagnosis of fetal structural anomalies: clinical experience and lessons learned from a cohort of 1618 fetuses.
Fu Fang et al. Genome medicine 2022 14(1) 123