Published on 03/17/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Distinct Functional Alterations and Therapeutic Options of Two Pathological De Novo Variants of the T292 Residue of GABRA1 Identified in Children with Epileptic Encephalopathy and Neurodevelopmental Disorders.
Chen Wenlin et al. International journal of molecular sciences 2022 23(5) -
KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.
Lee Inn-Chi et al. Cells 2022 11(5) -
Gene-Disease Relationship Evidence: A clinical perspective focusing on ultra-rare diseases.
Santen Gijs W E et al. Human mutation 2022 -
seqr: a web-based analysis and collaboration tool for rare disease genomics.
Pais Lynn S et al. Human mutation 2022 -
Severe Combined Immunodeficiency: Knowledge and Information Needs Among Healthcare Providers.
Kutsa Oksana et al. Frontiers in pediatrics 2022 10804709 -
Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: a mixed methods study.
Peter Michelle et al. European journal of human genetics : EJHG 2022 -
Treating rare diseases with the cinema: Can popular movies enhance public understanding of rare diseases?
Domaradzki Jan et al. Orphanet journal of rare diseases 2022 17(1) 117
Cancer Genomics
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Integrating comprehensive genomic sequencing of non-small cell lung cancer into a public healthcare system.
Perdrizet Kirstin et al. Cancer treatment and research communications 2022 31100534 -
Liquid Biopsy-based Precision Therapy in Patients with Advanced Solid Tumors: A Real-world Experience from a Community-based Oncology Practice.
Choucair Khalil et al. The oncologist 2022 27(3) 183-190 -
The Clinical Utility and Impact of Next Generation Sequencing in Gynecologic Cancers.
Maruthi Vijaya Kadam et al. Cancers 2022 14(5) -
FOCUS4 biomarker laboratories: from the benefits to the practical and logistical issues faced during 6 years of centralised testing.
Richman Susan D et al. Journal of clinical pathology 2022 -
Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases.
Soussi Thierry et al. Frontiers in oncology 2022 12808886 -
Integrating Medical Genetics Into Precision Oncology Practice in the Veterans Health Administration: The Time Is Now.
Scott Anthony et al. JCO oncology practice 2022 OP2100693 -
Identifying and Validating of an Autophagy-Related Gene Signature for the Prediction of Early Relapse in Breast Cancer.
Min Yu et al. Frontiers in endocrinology 2022 13824362 -
Cost-Effectiveness Analysis from a Societal Perspective of Recurrence Index for Distant Recurrence (RecurIndex) in Women with Hormone Receptor-Positive and HER2-Negative Early-Stage Breast Cancer.
Pennarun Nicolas et al. Cancer management and research 2022 14761-773 -
Pathologist initiated reflex BRAF mutation testing in metastatic melanoma: experience at a specialist melanoma treatment centre.
Potter Alison J et al. Pathology 2022 -
Clinical Application of Next-Generation Sequencing in Advanced Thyroid Cancers.
Ma Lucy X et al. Thyroid : official journal of the American Thyroid Association 2022 -
Effectiveness of afatinib in an NSCLC patient with EGFR mutation and early progression to osimertinib: a case report.
Nozaki Koichiro et al. Translational cancer research 2022 11(1) 295-298
Hereditary Cancer
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Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.
Best Megan C et al. European journal of human genetics : EJHG 2022 -
Hereditary Cancer Gene Variants in Hispanic Men With a Personal or Family History of Prostate Cancer.
Ramamurthy Chethan et al. Clinical genitourinary cancer 2022 -
Faecal immunochemical test mitigates risk of delayed colonoscopy in people with elevated risk of colorectal neoplasia.
Wassie Molla M et al. Journal of gastroenterology and hepatology 2022 -
TRACEBACK: Testing of Historical Tubo-Ovarian Cancer Patients for Hereditary Risk Genes as a Cancer Prevention Strategy in Family Members.
Delahunty Rachel et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102108 -
Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.
Ozmen Vahit et al. Oncology letters 2022 23(4) 118
Chronic Disease
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Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans.
Shams Hengameh et al. Brain : a journal of neurology 2022
Ethics/Policy/Law
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Stewardship of patient genomic data: A policy statement of the American College of Medical Genetics and Genomics (ACMG).
Best Robert G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 24(3) 509-511 -
Appropriate Safeguards and Article 89 of the GDPR: Considerations for Biobank, Databank and Genetic Research.
Staunton Ciara et al. Frontiers in genetics 2022 13719317
Practice
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Variomes: a high recall search engine to support the curation of genomic variants.
Pasche Emilie et al. Bioinformatics (Oxford, England) 2022 -
Evaluating risk for alcohol use disorder: Polygenic risk scores and family history.
Lai Dongbing et al. Alcoholism, clinical and experimental research 2022 46(3) 374-383 -
Population DNA screening for medically actionable disease risk in adults.
Lacaze Paul A et al. The Medical journal of Australia 2022 -
Receiving results of uncertain clinical relevance from population genetic screening: systematic review & meta-synthesis of qualitative research.
Johnson Faye et al. European journal of human genetics : EJHG 2022 -
First-line genome sequencing is here to stay, but how crucial is clinical phenotyping going to be?
Taylor James et al. BMJ case reports 2022 15(3)
Heart, Lung, Blood and Sleep Diseases
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Left behind: The potential impact of CFTR modulators on racial and ethnic disparities in cystic fibrosis.
McGarry Meghan E et al. Paediatric respiratory reviews 2022 -
What Do We Know about the Microbiome in Cystic Fibrosis? Is There a Role for Probiotics and Prebiotics?
van Dorst Josie M et al. Nutrients 2022 14(3) -
Acute complications in children with sickle cell disease: Prevention and management.
Beck Carolyn E et al. Paediatrics & child health 2022 27(1) 50-62 -
Anticipating New Treatments for Cystic Fibrosis: A Global Survey of Researchers.
Cabral Bernardo et al. Journal of clinical medicine 2022 11(5) -
Association of factor expression levels with health-related quality of life and direct medical costs for people with haemophilia B.
Burke Tom et al. Journal of medical economics 2022 1-21 -
[Cascade genetic testing of familial hypercholesterolemia A new opportunity for prevention].
Butty Audrey et al. Revue medicale suisse 2022 18(772) 438-443 -
Retrospective comparison of parent-reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study.
Hancock Bailey et al. Journal of genetic counseling 2022 -
The Roles of Genetic Analysis in the Diagnosis of Pediatric Patients with Familial Hypercholesterolemia.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2022 -
Common genetic variants do not predict recurrent events in coronary heart disease patients.
Thompson P L et al. BMC cardiovascular disorders 2022 22(1) 96
Newborn Screening
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Enablers and barriers to newborn screening for sickle cell disease in Africa: results from a qualitative study involving programmes in six countries.
Archer Natasha M et al. BMJ open 2022 12(3) e057623
Pharmacogenomics
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CYP2C19 Genotyping in Anticoagulated Patients After Percutaneous Coronary Intervention: Should It Be Routine?
Maamari Dimitri J et al. Circulation 2022 145(10) 721-723 -
Pharmacogenetic Testing Knowledge and Attitudes among Pediatric Psychiatrists and Pediatricians in Alberta, Canada.
Jessel Chaten D et al. Journal of the Canadian Academy of Child and Adolescent Psychiatry = Journal de l'Academie canadienne de psychiatrie de l'enfant et de l'adolescent 2022 31(1) 18-27
Reproductive Health
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A machine learning technology to improve the risk of non-invasive prenatal tests.
Jamshidnezhad Amir et al. Technology and health care : official journal of the European Society for Engineering and Medicine 2022 -
Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.
D'Aversa Elisabetta et al. International journal of molecular sciences 2022 23(5) -
Detection of copy number variants associated with late-onset conditions in ~16 200 pregnancies: parameters for disclosure and pregnancy outcome.
Daum Hagit et al. Journal of medical genetics 2022