Published on 02/24/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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PhenomeCentral: 7 years of rare disease matchmaking.
Osmond Matthew et al. Human mutation 2022 -
Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Ibañez Kristina et al. The Lancet. Neurology 2022 21(3) 234-245 -
Genomics4RD: An integrated platform to share Canadian deep-phenotype and multi-omic data for international rare disease gene discovery.
Driver Hannah G et al. Human mutation 2022 -
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.
Goranitis Ilias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Functional Ability and Physical Activity in Hereditary Neuromuscular Diseases.
Andries Aristomo et al. Journal of neuromuscular diseases 2022 -
The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Laurie Steven et al. Human mutation 2022 -
Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto.
Albaghdadi Mohammed et al. Pediatric dermatology 2022 -
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study.
Binquet Christine et al. Frontiers in genetics 2022 12766964 -
Global Research on Hereditary Hearing Impairment Over the Last 40 Years: A Bibliometric Study.
Tekin Ahmet M et al. The journal of international advanced otology 2022 17(6) 482-491 -
Neurovascular Manifestations in Pediatric Patients With Hereditary Haemorrhagic Telangiectasia.
Azma Roxana et al. Pediatric neurology 2022 12924-30 -
Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies.
Winckler Pablo Brea et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2022 -
Clinical Observation and Genotype-Phenotype analysis of ABCA4- related Hereditary retinal degeneration before Gene Therapy.
Xiao Xuan et al. Current gene therapy 2022 -
Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.
Callahan Katharine Press et al. Pediatrics 2022 -
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Foroutan Aidin et al. International journal of molecular sciences 2022 23(3) -
COMT Val/Met and Psychopathic Traits in Children and Adolescents: A Systematic Review and New Evidence of a Developmental Trajectory toward Psychopathy.
Kant Tuana et al. International journal of molecular sciences 2022 23(3)
Cancer Genomics
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Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.
Drabarek Wojtek et al. Cancers 2022 14(3) -
SWOG 1318: A Phase II Trial of Blinatumomab Followed by POMP Maintenance in Older Patients With Newly Diagnosed Philadelphia Chromosome-Negative B-Cell Acute Lymphoblastic Leukemia.
Advani Anjali S et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2101766 -
Psychological impact of comprehensive tumor genomic profiling results for advanced cancer patients.
Butow Phyllis N et al. Patient education and counseling 2022 -
The Genomics of Colorectal Cancer in Populations with African and European Ancestry.
Myer Parvathi A et al. Cancer discovery 2022 -
Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.
Ji Jung Hwan et al. NPJ breast cancer 2022 8(1) 19 -
Comparison of StemPrintER with Oncotype DX Recurrence Score for predicting risk of breast cancer distant recurrence after endocrine therapy.
Pece Salvatore et al. European journal of cancer (Oxford, England : 1990) 2022 16452-61
Hereditary Cancer
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Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.
Bellcross Cecelia A et al. Obstetrics and gynecology clinics of North America 2022 49(1) 117-147 -
Hereditary Ovarian Carcinoma: Cancer Pathogenesis Looking beyond BRCA1 and BRCA2.
Samuel David et al. Cells 2022 11(3) -
Potential Involvement of NSD1, KRT24 and ACACA in the Genetic Predisposition to Colorectal Cancer.
Quintana Isabel et al. Cancers 2022 14(3) -
Applying citizen science to engage families affected by ovarian cancer in developing genetic service outreach strategies.
McBride Colleen M et al. PloS one 2022 17(2) e0262575 -
New insights on familial colorectal cancer type X syndrome.
Garcia Felipe Antonio de Oliveira et al. Scientific reports 2022 12(1) 2846 -
Interactive Beliefs about Genes and Behavior Predict Improved Sun Protection Following Melanoma Genetic Counseling.
Aspinwall Lisa G et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2022 -
Worldwide prevalence of Lynch syndrome in patients with colorectal cancer: Systematic review and meta-analysis.
Abu-Ghazaleh Nadine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Germline pathogenic variants in cancer risk genes among patients with thyroid cancer and suspected predisposition.
Kamihara Junne et al. Cancer medicine 2022 -
Universal tumor screening in a population with MSH6- and PMS2-associated Lynch syndrome.
Einarsson Haukur et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Prostate cancer risk stratification improvement across multiple ancestries with new polygenic hazard score.
Huynh-Le Minh-Phuong et al. Prostate cancer and prostatic diseases 2022 -
Evaluation of two evidence-based decision aids for female BRCA1/2 mutation carriers in Germany: study protocol for a randomised controlled parallel-group trial.
Kautz-Freimuth Sibylle et al. Trials 2022 23(1) 157 -
Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.
Kasuga Akiyoshi et al. International journal of molecular sciences 2022 23(3) -
Family Adjustment to Hereditary Cancer Syndromes: A Systematic Review.
Gomes Pedro et al. International journal of environmental research and public health 2022 19(3)
Chronic Disease
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The promise of polygenic risk prediction in smoking cessation: Evidence from two treatment trials.
Bray Michael et al. Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco 2022
Ethics/Policy/Law
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Towards equitable and trustworthy genomics research.
Atutornu Jerome et al. EBioMedicine 2022 76103879 -
Genetic Testing for Rare Diseases: A Systematic Review of Ethical Aspects.
Kruse Judith et al. Frontiers in genetics 2022 12701988 -
Considerations for developing regulations for direct-to-consumer genetic testing: a scoping review using the 3-I framework.
Cernat Alexandra et al. Journal of community genetics 2022
Practice
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Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality.
Gasteiger Norina et al. Journal of community genetics 2022 -
A clinical laboratory's experience using GeneMatcher - building stronger gene-disease relationships.
Taylor Julie P et al. Human mutation 2022 -
Building a Precision Medicine Delivery Platform for Clinics: The University of California, San Francisco, BRIDGE Experience.
Bove Riley et al. Journal of medical Internet research 2022 24(2) e34560 -
Disrupting Essentialism in Medical Genetics Education.
Gingell Gareth et al. Medical science educator 2022 32(1) 255-262 -
Nursing engagement in genetics and genomics: A developing country's perspective.
Abad Peter James B et al. International nursing review 2022
Heart, Lung, Blood and Sleep Diseases
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Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study.
Sanin Veronika et al. European journal of public health 2022 -
Global seroprevalence of pre-existing immunity against AAV5 and other AAV serotypes in people with hemophilia A.
Klamroth Robert et al. Human gene therapy 2022 -
Electronic diaries in the management of haemophilia gene therapy: Perspective of an expert group from the German, Austrian and Swiss Society on Thrombosis and Haemostasis (GTH).
Miesbach Wolfgang et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 -
Genetics of Inherited thrombocytopenias.
Warren Julia T et al. Blood 2022 -
Web-Based Tool (FH Family Share) to Increase Uptake of Cascade Testing for Familial Hypercholesterolemia: Development and Evaluation.
Bangash Hana et al. JMIR human factors 2022 9(1) e32568 -
Pharmacological treatment with lipid-lowering agents after molecular identification of familial hypercholesterolemia: results from the Hipercol Brasil cohort.
Silva Pãmela Rodrigues de S et al. Journal of clinical lipidology 2022 -
Low density lipoprotein cholesterol levels exceed the recommended European threshold for PCSK9i initiation: lessons from the HEYMANS study.
Ray Kausik K et al. European heart journal. Quality of care & clinical outcomes 2022
Pharmacogenomics
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Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos Javier et al. NPJ genomic medicine 2022 7(1) 12 -
The Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for SLCO1B1, ABCG2, and CYP2C9 and statin-associated musculoskeletal symptoms.
Cooper-DeHoff Rhonda M et al. Clinical pharmacology and therapeutics 2022 -
Metabolizing status of CYP2C19 in response and side effects to medications for depression: Results from a naturalistic study.
Calabrò Marco et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2022 56100-111