Published on 11/24/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Autism spectrum disorder and comorbid neurodevelopmental disorders (ASD-NDDs): Clinical and genetic profile of a pediatric cohort.
Chen Shimeng et al. Clinica chimica acta; international journal of clinical chemistry 2021 -
Genetic evaluation of children with autism spectrum disorders in developing and low-resource areas.
Masri Amira T et al. Autism : the international journal of research and practice 2021 13623613211055535 -
Attitudes among parents of persons with autism spectrum disorder towards information about genetic risk and future health.
Johannessen Jarle et al. European journal of human genetics : EJHG 2021 -
Genetics in Congenital Heart Diseases: Unraveling the Link Between Cardiac Morphogenesis, Heart Muscle Disease, and Electrical Disorders.
Baban Anwar et al. Heart failure clinics 2021 18(1) 139-153 -
Genetics of Childhood Hearing Loss.
Mitchell Calli Ober et al. Otolaryngologic clinics of North America 2021 54(6) 1081-1092
Cancer Genomics
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Clinical Outcomes for Plasma-Based Comprehensive Genomic Profiling Versus Standard-of-Care Tissue Testing in Advanced Non-Small Cell Lung Cancer.
Page Ray D et al. Clinical lung cancer 2021 -
Comparison of risk assessment in 1652 early ER positive, HER2 negative breast cancer in a real-world data set: classical pathological parameters vs. 12-gene molecular assay (EndoPredict).
Jank Paul et al. Breast cancer research and treatment 2021 -
Dynamic recurrence risk and adjuvant chemotherapy benefit prediction by ctDNA in resected NSCLC.
Qiu Bin et al. Nature communications 2021 12(1) 6770 -
Genome-wide identification and characterization of circular RNA mA modification in pancreatic cancer.
Ye Ying et al. Genome medicine 2021 13(1) 183 -
Prediction model based on 18F-FDG PET/CT radiomic features and clinical factors of EGFR mutations in lung adenocarcinoma.
Zhao Hong-Yue et al. Neoplasma 2021
Hereditary Cancer
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Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives.
Salikhanov Islam et al. Journal of medical genetics 2021 -
Germline cancer susceptibility gene testing in unselected patients with hepatobiliary cancers: A multi-center prospective study.
Uson Junior Pedro Ls et al. Cancer prevention research (Philadelphia, Pa.) 2021 -
Prevalence of pouchitis in both Ulcerative Colitis and Familial Adenomatous Polyposis: a systematic review and meta-analysis.
Sriranganathan Danujan et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2021 -
Parental age and retinoblastoma-a retrospective study of demographic data and genetic analysis.
Tanwar Meghana et al. Eye (London, England) 2021 -
Lynch Syndrome-Associated Cancers Beyond Colorectal Cancer.
Biller Leah H et al. Gastrointestinal endoscopy clinics of North America 2021 32(1) 75-93 -
Chemoprevention Considerations in Patients with Hereditary Colorectal Cancer Syndromes.
Macaron Carole et al. Gastrointestinal endoscopy clinics of North America 2021 32(1) 131-146 -
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
de Andrade Kelvin César et al. The Lancet. Oncology 2021 -
Telephone versus in-person genetic counseling for hereditary cancer risk: Patient predictors of differential outcomes.
Binion Savannah et al. Journal of telemedicine and telecare 2021 1357633X211052220 -
Predictors of Population Awareness of Cancer Genetic Tests: Implications for Enhancing Equity in Engaging in Cancer Prevention and Precision Medicine.
Giri Veda N et al. JCO precision oncology 2021 5
Chronic Disease
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Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets.
Caputo Valerio et al. European journal of ophthalmology 2021 31(6) 2856-2867 -
Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.
Gilley Jonathan et al. eLife 2021 10 -
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders.
Alkelai Anna et al. Molecular psychiatry 2021 -
Attitudes towards polygenic risk testing in individuals with glaucoma.
Hollitt Georgina L et al. Ophthalmology. Glaucoma 2021 -
Osteoarthritis year in review: genetics, genomics, epigenetics.
Young David A et al. Osteoarthritis and cartilage 2021
Ethics/Policy/Law
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Individualized Therapeutics Development for Rare Diseases: The Current Ethical Landscape and Policy Responses.
Bateman-House Alison et al. Nucleic acid therapeutics 2021 -
"I Agree to Disagree": Comparative Ethical and Legal Analysis of Big Data and Genomics for Privacy, Consent, and Ownership.
Belani Seema et al. Cureus 2021 13(10) e18736
Practice
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Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps.
et al. Nature medicine 2021 -
A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study.
Marjonen Heidi et al. Frontiers in genetics 2021 12763159
Heart, Lung, Blood and Sleep Diseases
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A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Missense Variants of Uncertain Significance in Type 1 Long QT Syndrome.
Bains Sahej et al. Heart rhythm 2021 -
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
Raraigh Karen S et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021 -
Explaining the variance in cardiovascular disease risk factors: A comparison of demographic, socioeconomic, and genetic predictors.
Hamad Rita et al. Epidemiology (Cambridge, Mass.) 2021 -
Prevention of Cardiovascular Burden in COVID-19 Patients Suffering from Familial Hypercholesterolemia: A Global Challenge.
Vuorio Alpo et al. Cardiology and therapy 2021 -
Assessment of practical applicability and clinical relevance of a commonly used LDL-C polygenic score in patients with severe hypercholesterolemia.
Tromp Tycho R et al. Atherosclerosis 2021
Newborn Screening
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NeoSeq: a new method of genomic sequencing for newborn screening.
Wang Huaiyan et al. Orphanet journal of rare diseases 2021 16(1) 481
Pharmacogenomics
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Encountering Pharmacogenetic Test Results in the Psychiatric Clinic.
Bousman Chad A et al. Canadian journal of psychiatry. Revue canadienne de psychiatrie 2021 7067437211058847 -
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs.
Brouwer Jurriaan M J L et al. European journal of human genetics : EJHG 2021