Published on 06/02/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).
Schuermans Nika et al. Orphanet journal of rare diseases 2022 17(1) 210 -
Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.
Monte Marco Angelo et al. Life (Basel, Switzerland) 2022 12(5) -
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia Sofia et al. Journal of clinical medicine 2022 11(10) -
The Benefit of Multigene Panel Testing for the Diagnosis and Management of the Genetic Epilepsies.
Leduc-Pessah Heather et al. Genes 2022 13(5) -
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott Alison M et al. HGG advances 2022 3(3) 100108 -
Comparing genome sequencing technologies to improve rare disease diagnostics: a protocol for the evaluation of a pilot project, Genome-wide Sequencing Ontario.
Hayeems Robin Z et al. CMAJ open 2022 10(2) E460-E465 -
Home-based exercise therapy for treating shoulder instability in patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders. A randomized trial.
Spanhove Valentien et al. Disability and rehabilitation 2022 1-11 -
Effect of Paternal Diet on Spermatogenesis and Offspring Health: Focus on Epigenetics and Interventions with Food Bioactive Compounds.
Pascoal Gabriela de Freitas Laiber et al. Nutrients 2022 14(10)
Cancer Genomics
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Personalised selection of experimental treatment in patients with advanced solid cancer is feasible using whole-genome sequencing.
Pruis Melinda A et al. British journal of cancer 2022 -
Psychological outcomes in advanced cancer patients after receiving genomic tumor profiling results.
Vatter Sabina et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2022 41(6) 396-408 -
Multi-institutional study of the frequency, genomic landscape and outcome of IDH-mutant glioma in paediatrics.
Yeo Kee Kiat et al. Neuro-oncology 2022 -
Clinician-Reported Impact of Germline Multigene Panel Testing on Cancer Risk Management Recommendations.
Horton Carolyn et al. JNCI cancer spectrum 2022 6(2) -
Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.
Omura Takaki et al. Cancers 2022 14(10) -
Wide Next-Generation Sequencing Characterization of Young Adults Non-Small-Cell Lung Cancer Patients.
Ulivi Paola et al. Cancers 2022 14(10) -
OncoPan: An NGS-Based Screening Methodology to Identify Molecular Markers for Therapy and Risk Assessment in Pancreatic Ductal Adenocarcinoma.
Tibiletti Maria Grazia et al. Biomedicines 2022 10(5) -
Comprehensive Genomic Profiling of Circulating Tumor DNA in Patients with Previously Treated Metastatic Colorectal Cancer: Analysis of a Real-World Healthcare Claims Database.
Nakamura Yoshiaki et al. Current oncology (Toronto, Ont.) 2022 29(5) 3433-3448 -
PIK3CA Mutation as Potential Poor Prognostic Marker in Asian Female Breast Cancer Patients Who Received Adjuvant Chemotherapy.
Cho Yoon Ah et al. Current oncology (Toronto, Ont.) 2022 29(5) 2895-2908 -
Molecular profiling of non-small-cell lung cancer patients with or without brain metastases included in the randomized SAFIR02-LUNG trial and association with intracranial outcome.
Mogenet Alice et al. Lung cancer (Amsterdam, Netherlands) 2022 16931-39 -
Clinicopathologic and Genomic Landscape of Non-Small Cell Lung Cancer Brain Metastases.
Huang Richard S P et al. The oncologist 2022 -
Association of CD274 (PD-L1) Copy Number Changes with Immune Checkpoint Inhibitor Clinical Benefit in Non-Squamous Non-Small Cell Lung Cancer.
Murugesan Karthikeyan et al. The oncologist 2022
Hereditary Cancer
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Differences in Willingness to Undergo BRCA1/2 Testing and Risk Reducing Surgery among the General Public, Cancer Patients, and Healthcare Professionals: A Large Population-Based Survey.
Chang Yoon Jung et al. Journal of personalized medicine 2022 12(5) -
Points to Consider Regarding Risk-Reducing Mastectomy in High-, Moderate-, and Low-Penetrance Gene Carriers.
Corso Giovanni et al. Annals of surgical oncology 2022 -
BRCA-Mutated Pancreatic Cancer: From Discovery to Novel Treatment Paradigms.
Devico Marciano Naomie et al. Cancers 2022 14(10) -
Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients.
Espinel Whitney et al. Cancers 2022 14(10) -
Whole-Genome Sequencing Identifies PPARGC1A as a Putative Modifier of Cancer Risk in BRCA1/2 Mutation Carriers.
Zhu Qianqian et al. Cancers 2022 14(10) -
TP53 Pathogenic Variants in Early-Onset Breast Cancer Patients Fulfilling Hereditary Breast and Ovary Cancer and Li-Fraumeni-like Syndromes.
da Silva Paula Francinete Faustino et al. Biomolecules 2022 12(5) -
Patient Experience with a Gynecologic Oncology-Initiated Genetic Testing Model for Women with Tubo-Ovarian Cancer.
Sadinsky Michaela Bercovitch et al. Current oncology (Toronto, Ont.) 2022 29(5) 3565-3575
Chronic Disease
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Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium.
Grover Sandeep et al. Neurology 2022 -
Molecular Genetic Testing for Kidney Disorders During the COVID-19 Pandemic.
Kirwin Susan M et al. Delaware journal of public health 2022 7(5) 24-27
Ethics/Policy/Law
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State legislative trends related to biomarker testing.
Sadigh Gelareh et al. Cancer 2022
Practice
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Socioeconomic Status and Interest in Genetic Testing in a US-Based Sample.
Dusic E J et al. Healthcare (Basel, Switzerland) 2022 10(5) -
The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation.
Foss Kimberly S et al. Journal of personalized medicine 2022 12(5) -
Technical Performance of a 430-Gene Preventative Genomics Assay to Identify Multiple Variant Types Associated with Adult-Onset Monogenic Conditions, Susceptibility Loci, and Pharmacogenetic Insights.
Silver Ari et al. Journal of personalized medicine 2022 12(5) -
Use of a chatbot to increase uptake of cascade genetic testing.
Schmidlen Tara et al. Journal of genetic counseling 2022 -
Integrating genetic assistants into the workforce: An 18-year productivity analysis and development of a staff mix planning tool.
Krutish Angela et al. Journal of genetic counseling 2022
Heart, Lung, Blood and Sleep Diseases
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Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.
Kurzlechner Leonie M et al. Journal of personalized medicine 2022 12(5) -
A Selective Screening Strategy Performed in Pre-School Children and Siblings to Detect Familial Hypercholesterolemia.
Thajer Alexandra et al. Children (Basel, Switzerland) 2022 9(5) -
Recent Advances on Familial Hypercholesterolemia in Children and Adolescents.
Mainieri Francesca et al. Biomedicines 2022 10(5) -
Genetic Variant ABCC1 rs45511401 Is Associated with Increased Response to Statins in Patients with Familial Hypercholesterolemia.
Dagli-Hernandez Carolina et al. Pharmaceutics 2022 14(5) -
Targeting the Hematopoietic Stem Cell Niche in β-Thalassemia and Sickle Cell Disease.
Aprile Annamaria et al. Pharmaceuticals (Basel, Switzerland) 2022 15(5)
Newborn Screening
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Lymphocyte Medium-Chain Acyl-CoA Dehydrogenase Activity and Its Potential as a Diagnostic Confirmation Tool in Newborn Screening Cases.
Alcaide Patricia et al. Journal of clinical medicine 2022 11(10) -
Accelerating the Pace of Newborn Screening Research to Advance Disease Understanding and Improve Health Outcomes:: Key Efforts of the Newborn Screening Translational Research Network (NBSTRN).
Brower Amy et al. Delaware journal of public health 2022 7(5) 36-37
Pharmacogenomics
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Dihydropyrimidine Dehydrogenase Deficiency and Implementation of Upfront DPYD Genotyping.
White Cassandra et al. Clinical pharmacology and therapeutics 2022 -
Association of a Common NOS1AP Variant with Attenuation of QTc Prolongation in Men with Heroin Dependence Undergoing Methadone Treatment.
Chang Kuan-Cheng et al. Journal of personalized medicine 2022 12(5)
Reproductive Health
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The role of the first trimester screen in the face of normal cell free DNA.
Strauss Tirtza Spiegel et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2022 1-6 -
Noninvasive Prenatal Testing in Immunohematology-Clinical, Technical and Ethical Considerations.
Kjeldsen-Kragh Jens et al. Journal of clinical medicine 2022 11(10) -
In vitro fertilization with preimplantation genetic testing for monogenetic diseases versus unassisted conception with prenatal diagnosis for Huntington disease: a cost-effectiveness analysis.
Christensen Alicia A et al. Fertility and sterility 2022