Published on 11/23/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic and Rare Diseases Information Center (GARD).
Hoskins Amber et al. Medical reference services quarterly 2022 41(4) 389-394 -
Clinical and economic evaluation of a proteomic biomarker preterm birth risk predictor: Cost-effectiveness modeling of prenatal interventions applied to predicted higher-risk pregnancies within a large and diverse cohort.
Burchard Julja et al. Journal of medical economics 2022 1-51 -
Overlapping pathogenic de novo CNVs in neurodevelopmental disorders and congenital anomalies impacting constraint genes regulating early development.
Safizadeh Shabestari Seyed Ali et al. Human genetics 2022 -
The current understanding of germline predisposition in non-syndromic sagittal craniosynostosis: a systematic review.
Bille Agnes et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2022 -
All aspects of galactosemia: a single center experience.
Akgun Abdurrahman et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Cancer Genomics
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Molecular testing for endometrial cancer: An SGO clinical practice statement.
Walsh Christine S et al. Gynecologic oncology 2022 16848-55 -
HER2 amplification by next-generation sequencing to identify HER2-positive invasive breast cancer with negative HER2 immunohistochemistry.
Morsberger Laura et al. Cancer cell international 2022 22(1) 350 -
A high number of co-occurring genomic alterations detected by NGS is associated with worse clinical outcomes in advanced EGFR-mutant lung adenocarcinoma: Data from LATAM population.
Heredia David et al. Lung cancer (Amsterdam, Netherlands) 2022 174133-140 -
High Diagnostic Accuracy of Epigenetic Imprinting Biomarkers in Thyroid Nodules.
Xu Huixiong et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2200232 -
Identification of a novel signature with prognostic value in triple-negative breast cancer through clinico-transcriptomic analysis.
Chen Chao et al. Annals of translational medicine 2022 10(20) 1095 -
Integrated analysis of the genomic and transcriptional profile of gliomas with isocitrate dehydrogenase-1 and tumor protein 53 mutations.
Liu Han-Qing et al. International journal of immunopathology and pharmacology 2022 363946320221139262 -
Diagnostic accuracy of circulating free DNA testing for the detection of KRAS mutations in non-small cell lung cancer: A systematic review and meta-analysis.
Palmieri Maria et al. Frontiers in genetics 2022 131015161 -
Multiple mutations in the EGFR gene in lung cancer: a systematic review.
Castañeda-González Juan Pablo et al. Translational lung cancer research 2022 11(10) 2148-2163 -
Next-generation Sequencing as a Potential Diagnostic Adjunct in Distinguishing Between Desmoplastic Melanocytic Neoplasms.
Roth Andrew et al. The American journal of surgical pathology 2022 -
The budget impact of introducing mobocertinib for the postplatinum treatment of advanced non-small cell lung cancer harboring epidermal growth factor receptor exon 20 insertion mutations.
Hernandez Luis et al. Journal of managed care & specialty pharmacy 2022 1-15 -
Effectiveness and durability of benefit of mTOR inhibitors in a real-world cohort of patients with metastatic prostate cancer and PI3K pathway alterations.
Eule Corbin J et al. Prostate cancer and prostatic diseases 2022 -
Construction and validation of a prognostic model for lung adenocarcinoma based on endoplasmic reticulum stress-related genes.
Li Feng et al. Scientific reports 2022 12(1) 19857 -
Development and validation of a novel model for predicting the survival of bladder cancer based on ferroptosis-related genes.
Li Lianjun et al. Aging 2022 14
Hereditary Cancer
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Oncology Informatics for Lynch Syndrome Research and Care: A Literature Review.
Dehghani Soufi Mahsa et al. JCO clinical cancer informatics 2022 6e2200087 -
Association Between Family History and Risk of Pancreatic Cancer in Patients With BRCA1 and BRCA2 Pathogenic Variants.
Shah Ishani et al. Pancreas 2022 51(7) 733-738 -
Cancer screening and breast cancer family history in Spanish-speaking Hispanic/Latina women in California.
Tamayo Lizeth I et al. Frontiers in oncology 2022 12940162 -
Predicting the predisposition to colorectal cancer based on SNP profiles of immune phenotypes using supervised learning models.
Cakmak Ali et al. Medical & biological engineering & computing 2022 -
Genitourinary manifestations of Lynch syndrome in the urological practice.
Lonati Chiara et al. Asian journal of urology 2022 9(4) 443-450
Chronic Disease
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Genome-wide Sequencing Identified Rare Genetic Variants for Childhood-onset Monogenic Lupus.
Misztal Melissa et al. The Journal of rheumatology 2022 -
Quantifying the phenome-wide disease burden of obesity using electronic health records and genomics.
Robinson Jamie R et al. Obesity (Silver Spring, Md.) 2022
Ethics/Policy/Law
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Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy.
Longstaff Holly et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2022 194(44) E1500-E1508 -
"Extremely slow and capricious": A qualitative exploration of genetic researcher priorities in selecting shared data resources.
Trinidad M Grace et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Practice
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Barriers, interventions, and recommendations: Improving the genetic testing landscape.
Dusic E J et al. Frontiers in digital health 2022 4961128 -
Measuring quality and value in genetic counseling: The current landscape and future directions.
Higgs Emily et al. Journal of genetic counseling 2022 -
Rare and common genetic determinants of metabolic individuality and their effects on human health.
Surendran Praveen et al. Nature medicine 2022 28(11) 2321-2332 -
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics.
Mainali Apurba et al. American journal of medical genetics. Part A 2022
Heart, Lung, Blood and Sleep Diseases
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Equivalent Impact of Elevated Lipoprotein(a) and Familial Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease.
Hedegaard Berit Storgaard et al. Journal of the American College of Cardiology 2022 80(21) 1998-2010 -
The Evolving Landscape of Drug Therapies for Sickle Cell Disease.
Rai Parul et al. Hematology/oncology clinics of North America 2022 36(6) 1285-1312 -
Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.
Garrett Melanie E et al. Blood advances 2022 -
Acceptability to and Engagement With a Virtual Sickle Cell Trait Education Program (SCTaware): Single-Center Prospective Study.
Beeman Chase M et al. JMIR formative research 2022 6(11) e38780 -
Evaluating a communication aid for return of genetic results in families with hypertrophic cardiomyopathy: A randomized controlled trial.
Burns Charlotte et al. Journal of genetic counseling 2022 -
Contribution of malaria and sickle cell disease to anaemia among children aged 6-59 months in Nigeria: a cross-sectional study using data from the 2018 Demographic and Health Survey.
Chao Dennis L et al. BMJ open 2022 12(11) e063369 -
Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional study.
de Boer Lotte M et al. European heart journal 2022 -
Polygenic risk score and age: an extra help in the cardiovascular prevention of the young?
Temporelli Pier Luigi et al. European heart journal supplements : journal of the European Society of Cardiology 2022 24(Suppl I) I181-I185
Newborn Screening
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Concurrent newborn hearing and genetic screening of common hearing loss variants with bloodspot-based targeted next generation sequencing in Jiangxi province.
Luo Haiyan et al. Frontiers in pediatrics 2022 101020519 -
Using dried blood spot on HemoTypeSC™, a new frontier for newborn screening for sickle cell disease in Nigeria.
Okeke Chinwe O et al. Frontiers in genetics 2022 131013858 -
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Farrar Michelle A et al. Journal of neuromuscular diseases 2022
Pharmacogenomics
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Combined electronic medical records and gene polymorphism characteristics to establish an anti-tuberculosis drug-induced hepatic injury (ATDH) prediction model and evaluate the prediction value.
Zhang Jingwei et al. Annals of translational medicine 2022 10(20) 1114 -
Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy.
Xiang Jiale et al. American journal of obstetrics & gynecology MFM 2022 5(1) 100790
Reproductive Health
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Couple screening for recessively inherited disorders.
Sisterna Silvina et al. Journal of medical screening 2022 9691413221137039 -
Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single pregnancies.
Xue Huili et al. Scientific reports 2022 12(1) 19750 -
Genetic Screening in Patients with Ovarian Dysfunction.
Zeng Yang et al. Clinical genetics 2022 -
Cell-Free Fetal Deoxyribonucleic Acid (cffDNA) Analysis as a Remarkable Method of Non-Invasive Prenatal Screening.
Raj Himanshu et al. Cureus 2022 14(10) e29965 -
Twelve years of assessing the quality of preimplantation genetic testing for monogenic disorders.
Deans Zandra C et al. Prenatal diagnosis 2022