Published on 05/27/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders.
Marinakis Nikolaos M et al. American journal of medical genetics. Part A 2021 -
Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: a retrospective study.
Zhai Yiwen et al. Human mutation 2021 -
Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.
Wolking Stefan et al. Annals of clinical and translational neurology 2021 -
Phenylketonuria.
van Spronsen Francjan J et al. Nature reviews. Disease primers 2021 7(1) 36 -
Awareness screening and referral patterns among pediatricians in the United States related to early clinical features of spinal muscular atrophy (SMA).
Curry Mary et al. BMC pediatrics 2021 21(1) 236 -
Management of CLN1 Disease: International Clinical Consensus.
Augustine Erika F et al. Pediatric neurology 2021 12038-51 -
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
UshaDevi Dr R et al. European journal of medical genetics 2021 104247 -
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Liao Panli et al. Frontiers in pediatrics 2021 9566524 -
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.
Lewis-Smith David et al. European journal of human genetics : EJHG 2021 -
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad Amine et al. European journal of ophthalmology 2021 11206721211016308 -
CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients.
Requena Francisco et al. Nucleic acids research 2021 -
Safety and improved efficacy signals following gene therapy in childhood blindness caused by GUCY2D mutations.
Jacobson Samuel G et al. iScience 2021 24(5) 102409
Cancer Genomics
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The use of genomic assays reduces rates of chemotherapy: a single-institution experience.
Vatish Jamie et al. Irish journal of medical science 2021 -
Clinical utility of the 21-gene assay in predicting response to neoadjuvant endocrine therapy in breast cancer: A systematic review and meta-analysis.
Davey M G et al. Breast (Edinburgh, Scotland) 2021 58113-120 -
Detection of actionable mutations in archived cytological bile specimens.
Ohyama Hiroshi et al. Journal of hepato-biliary-pancreatic sciences 2021 -
Performance of Afirma genomic sequencing classifier vs gene expression classifier in Bethesda category III thyroid nodules: An institutional experience.
Zhang Lin et al. Diagnostic cytopathology 2021 -
Genomics of Black American colon cancer disparities: An RNA sequencing (RNA-Seq) study from an academic, tertiary referral center.
Haskins Ivy N et al. Surgery 2021 -
Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome.
López-Nevado Marta et al. Frontiers in immunology 2021 12656356 -
The Impact of Genomic Profiling on Adjuvant Therapy Recommendation in Postmenopausal Women with ER-Positive, T1-2 Breast Cancer: Can Genomic Profiling Eliminate the Need for Sentinel Lymph Node Biopsy?
Lee Elaine et al. Clinical breast cancer 2021 -
The Panorama of Cancer Genetics.
Bader Joel S et al. Cancer research 2021 81(10) 2586-2587
Hereditary Cancer
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Health system interventions to integrate genetic testing in routine oncology services: A systematic review.
O'Shea Rosie et al. PloS one 2021 16(5) e0250379 -
Performance of Next Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer with Deficient DNA Mismatch Repair.
Ratovomanana Toky et al. Gastroenterology 2021 -
Towards population-based genetic screenings for breast and ovarian cancer: A comprehensive review from economic evaluations to patient perspectives.
Ficarazzi Filomena et al. Breast (Edinburgh, Scotland) 2021 58121-129 -
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers.
Amar Laurence et al. Nature reviews. Endocrinology 2021 -
Colorectal cancer risk in families with Birt-Hogg-Dubé syndrome increased.
Sattler Elke C et al. European journal of cancer (Oxford, England : 1990) 2021 151168-174 -
Management of patients with BRCA mutation from the point of view of a breast surgeon.
Riis M L et al. Annals of medicine and surgery (2012) 2021 65102311 -
Development and evaluation of an online, patient-driven, family outreach intervention to facilitate sharing of genetic risk information in families with Lynch syndrome.
Pande Mala et al. Journal of medical genetics 2021
Chronic Disease
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The Role of TCF7L2 in Type 2 Diabetes.
Del Bosque-Plata Laura et al. Diabetes 2021 -
Clinical and molecular significance of genetic loci associated with psoriatic arthritis.
O'Rielly Darren D et al. Best practice & research. Clinical rheumatology 2021 101691 -
Genome-Wide Association Studies-Based Machine Learning for Prediction of Age-Related Macular Degeneration Risk.
Yan Qi et al. Translational vision science & technology 2021 10(2) 29
Ethics/Policy/Law
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Privacy practices using genetic data from cell-free DNA aneuploidy screening.
Parobek Christian M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Practice
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Clinical genomics-but faster.
McNeill Alisdair et al. European journal of human genetics : EJHG 2021 -
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln Stephen E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller David T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
Miller David T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Machine Learning Analysis of MicroRNA Expression Data Reveals Novel Diagnostic Biomarker for Ischemic Stroke.
Zhao Xinyi et al. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2021 30(8) 105825 -
Combining Clinical and Polygenic Risk Improves Stroke Prediction Among Individuals with Atrial Fibrillation.
O'Sullivan Jack W et al. Circulation. Genomic and precision medicine 2021 -
Patterns of joint damage in severe haemophilia A treated with prophylaxis.
Goren Rachel et al. Haemophilia : the official journal of the World Federation of Hemophilia 2021 -
Engaging Caregivers and Providers of Children With Sickle Cell Anemia in Shared Decision Making for Hydroxyurea: Protocol for a Multicenter Randomized Controlled Trial.
Hood Anna M et al. JMIR research protocols 2021 10(5) e27650 -
Application of a risk stratification tool for familial hypercholesterolaemia in primary care: an observational cross-sectional study in an unselected urban population.
Carvalho Chris et al. Heart (British Cardiac Society) 2021 -
Mortality and Causes of Death From Sickle Cell Disease in The Netherlands, 1985-2017.
Rettenbacher Eva et al. Journal of pediatric hematology/oncology 2021 -
Improving detection and management of familial hypercholesterolaemia in Australian general practice.
Brett Tom et al. Heart (British Cardiac Society) 2021 -
Aquagenic wrinkling in children under two years of age: Could this be a potential clinical referral tool for cystic fibrosis among non-screened populations?
Paul Grace R et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021 -
Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes: JACC Focus Seminar 1/5.
Semsarian Christopher et al. Journal of the American College of Cardiology 2021 77(20) 2517-2530 -
Mavacamten for treatment of symptomatic obstructive hypertrophic cardiomyopathy (EXPLORER-HCM): health status analysis of a randomised, double-blind, placebo-controlled, phase 3 trial.
Spertus John A et al. Lancet (London, England) 2021 -
Clinical Significance of Variants in the TTN Gene in a Large Cohort of Patients With Sporadic Dilated Cardiomyopathy.
Xiao Lei et al. Frontiers in cardiovascular medicine 2021 8657689 -
Heterozygous familial hypercholesterolemia: prevalence and control rates.
Polychronopoulos Georgios et al. Expert review of endocrinology & metabolism 2021 1-5 -
Genetic testing in patients undergoing percutaneous coronary intervention: rationale, evidence and practical recommendations.
Galli Mattia et al. Expert review of clinical pharmacology 2021 -
Effect of Cumulative Exposure to Low-Density Lipoprotein-Cholesterol on Cardiovascular Events in Patients With Familial Hypercholesterolemia.
Tada Hayato et al. Circulation journal : official journal of the Japanese Circulation Society 2021
Newborn Screening
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Newborn screening for sickle cell disease in sub-Saharan Africa: Is the glass half-full yet?
Smart Luke R et al. Pediatric blood & cancer 2021 e29137
Pharmacogenomics
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Pharmacogenetic association of diabetes-associated genetic risk score with rapid progression of coronary artery calcification following treatment with HMG-CoA-reductase inhibitors -results of the Heinz Nixdorf Recall Study.
Pechlivanis Sonali et al. Naunyn-Schmiedeberg's archives of pharmacology 2021 -
Transcriptome-wide association study uncovers the role of essential genes in anthracycline-induced cardiotoxicity.
Scott Erika N et al. NPJ genomic medicine 2021 6(1) 35 -
Policy and Practice Review: A First Guideline on the Use of Pharmacogenetics in Clinical Psychiatric Practice.
van Westrhenen R et al. Frontiers in pharmacology 2021 12640032
Reproductive Health
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Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss.
Peng Siyang et al. Prenatal diagnosis 2021 -
Clinical validity and utility of preconception expanded carrier screening for the management of reproductive genetic risk in IVF and general population.
Capalbo A et al. Human reproduction (Oxford, England) 2021 -
Association of family history with incidence and gestational hypertension outcomes of preeclampsia.
Wu Chia-Tung et al. International Journal of Cardiology. Hypertension 2021 9100084