Published on 07/06/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn Jessica et al. Frontiers in immunology 2022 13906540 -
Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations.
Similuk Morgan N et al. The Journal of allergy and clinical immunology 2022 -
Extended genetic diagnostics for children with profound sensorineural hearing loss by implementing massive parallel sequencing. Diagnostic outcome, family experience and clinical implementation.
Elander Johanna et al. International journal of pediatric otorhinolaryngology 2022 159111218
Cancer Genomics
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21- gene recurrence score predictive for prognostic benefit of radiotherapy in patients age ≥70 with T1N0 ER/PR+ HER2- breast cancer treated with breast conserving surgery and endocrine therapy.
Chevli Neil et al. Radiotherapy and oncology : journal of the European Society for Therapeutic Radiology and Oncology 2022 -
Somatic targeted mutation profiling of colorectal cancer precursor lesions.
Dos Santos Wellington et al. BMC medical genomics 2022 15(1) 143 -
The Gastric Cancer Registry: A Genomic Translational Resource for Multidisciplinary Research in Gastric Cancer.
Almeda Alison F et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 -
A Signature of Three Apoptosis-Related Genes Predicts Overall Survival in Breast Cancer.
Zou Rongyang et al. Frontiers in surgery 2022 9863035 -
Adding radiomics to the 2021 WHO updates may improve prognostic prediction for current IDH-wildtype histological lower-grade gliomas with known EGFR amplification and TERT promoter mutation status.
Park Yae Won et al. European radiology 2022 -
Appraising the Costs of Genomic Testing for Histology-Independent Technologies: An Illustrative Example for NTRK Fusions.
Beresford Lucy et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2022 25(7) 1133-1140 -
EARS2 significantly coexpresses with PALB2 in breast and pancreatic cancer.
Lehrer Steven et al. Cancer treatment and research communications 2022 32100595
Hereditary Cancer
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Underutilization of Guideline-Recommended Mismatch Repair/Microsatellite Instability Biomarker Testing in Advanced Colorectal Cancer.
Papke David J et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 -
Racial Disparities in Family Variant Testing for Cancer Predisposition Genes.
Kassem N et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 31(7) 1511 -
Understanding Cancer Genetic Risk Assessment Intentions in a Tailored Risk Communication Intervention Randomized Controlled Trial.
LeCompte C G et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 31(7) 1513-1514 -
Hereditary ovarian cancer risk reduction: a retrospective evaluation of patient perspectives and service provision at a regional hereditary gynaecologic cancer clinic 2006-2016.
Adolph Lauren et al. BMC women's health 2022 22(1) 263 -
Characterization of variant reclassification and patient re-contact in a cancer genetics clinic.
Muir Sarah M et al. Journal of genetic counseling 2022 -
Understanding the Uptake and Challenges of Genetic Testing Guidelines for Prostate Cancer Patients.
Suri Yash et al. Cancer treatment and research communications 2022 32100588 -
Adherence to the 2020 American Cancer Society Guideline for Cancer Prevention and risk of breast cancer for women at increased familial and genetic risk in the Breast Cancer Family Registry: an evaluation of the weight, physical activity, and alcohol consumption recommendations.
Geczik Ashley M et al. Breast cancer research and treatment 2022 -
Variation and Disparity in the Use of Prostate Cancer Risk Stratification Tools in the United States.
Laditi Folawiyo et al. European urology focus 2022
Chronic Disease
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Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes.
Schramm Catherine et al. Genome medicine 2022 14(1) 69 -
Recent Updates on the Genetics of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Kirola Laxmi et al. Molecular neurobiology 2022 -
Model for Integration of Monogenic Diabetes Diagnosis Into Routine Care: The Personalized Diabetes Medicine Program.
Zhang Haichen et al. Diabetes care 2022 -
A Remote Digital Monitoring Platform to Assess Cognitive and Motor Symptoms in Huntington Disease: Cross-sectional Validation Study.
Lipsmeier Florian et al. Journal of medical Internet research 2022 24(6) e32997 -
Effect of a lifestyle intervention on telomere length:A systematic review and meta-analysis.
Buttet Marjorie et al. Mechanisms of ageing and development 2022 111694 -
Associations of a family history of lupus with the risks of lupus and major psychiatric disorders in first-degree relatives.
Lin Po-Chun et al. QJM : monthly journal of the Association of Physicians 2022
Ethics/Policy/Law
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Capacity-Building for Stroke Genomic Research Data Collection: The African Neurobiobank Ethical, Legal, and Social Implications Project Experience.
Uvere Ezinne O et al. Biopreservation and biobanking 2022 -
A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research.
Rebbeck Timothy R et al. JAMA health forum 2022 3(4)
Practice
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Genetics and Epigenetics in Personalized Nutrition: Evidence, Expectations and Experiences.
Holzapfel Christina et al. Molecular nutrition & food research 2022 e2200077 -
A Collaborative Psychiatric-Genetics Inpatient Care Delivery Model Improves Access to Clinical Genetic Evaluation, Testing, and Diagnosis for Patients With Neurodevelopmental Disorders.
Shillington Amelle et al. Frontiers in genetics 2022 13901458 -
Familial associations in Adolescent Substance Use Disorder: A Population-based Cohort Study.
Hamad Amani F et al. Addiction (Abingdon, England) 2022 -
Suicidal ideation during adolescence: The roles of aggregate genetic liability for suicide attempts and negative life events in the past year.
Lannoy Séverine et al. Journal of child psychology and psychiatry, and allied disciplines 2022
Heart, Lung, Blood and Sleep Diseases
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Genetic testing in severe aplastic anemia is required for optimal hematopoietic cell transplant outcomes.
McReynolds Lisa J et al. Blood 2022 -
Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.
Bélanger Alexandre M et al. European heart journal 2022 -
Gene Therapy for Hemoglobinopathies: Beta-Thalassemia, Sickle Cell Disease.
Leonard Alexis et al. Hematology/oncology clinics of North America 2022 -
Effect of Apolipoprotein E ε4 Allele on the Progression of Carotid Atherosclerosis Through Apolipoprotein Levels.
Ma Wenbing et al. Pharmacogenomics and personalized medicine 2022 15653-661 -
Behavioral Health Screening in Military Cystic Fibrosis Centers: A Survey.
Rutledge Catherine et al. Military medicine 2022 -
Results of Genetic Analysis of 11,341 Participants Enrolled in the My Life, Our Future Hemophilia Genotyping Initiative in the United States.
Johnsen Jill M et al. Journal of thrombosis and haemostasis : JTH 2022 -
Cascade testing for inherited cardiac conditions: Risk perception and screening after a negative genetic test result.
Fusco Kelsey M et al. Journal of genetic counseling 2022 -
Factors Associated with Increased Health-Related Quality of Life Benefits in Patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (ATTRv-PN) Treated with Inotersen.
Karam Chafic et al. Muscle & nerve 2022 -
Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study.
Kjærgaard Kasper Aalbæk et al. Lipids in health and disease 2022 21(1) 56
Pharmacogenomics
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Genome-wide association study of aromatase inhibitor discontinuation due to musculoskeletal symptoms.
Hertz Daniel L et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2022
Reproductive Health
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Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations.
Zhai Fan et al. Reproductive biomedicine online 2022