Published on 08/12/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al. European journal of pediatrics 2021 -
Social and medical needs of rare metabolic patients: results from a MetabERN survey.
Sestini Sylvia et al. Orphanet journal of rare diseases 2021 16(1) 336 -
Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
Oluwafemi Omobola O et al. Genes 2021 12(7) -
Understanding the impact of SNPs associated with autism spectrum disorder on biological pathways in the human fetal and adult cortex.
Golovina E et al. Scientific reports 2021 11(1) 15867 -
Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.
Butchbach Matthew E R et al. International journal of molecular sciences 2021 22(15) -
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Hsueh Chien-Yu et al. Orphanet journal of rare diseases 2021 16(1) 348
Cancer Genomics
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Health Economic Evidence for Liquid- and Tissue-based Molecular Tests that Inform Decisions on Prostate Biopsies and Treatment of Localised Prostate Cancer: A Systematic Review.
Degeling Koen et al. European urology open science 2021 2777-87 -
[Second-generation Sequencing Analysis of Ph and Ph-like Childhood T-cell Acute Lymphoblastic Leukemia].
Liao Xin et al. Zhongguo shi yan xue ye xue za zhi 2021 29(4) 1101-1108 -
Comparison of solid tissue sequencing and liquid biopsy accuracy in identification of clinically relevant gene mutations and rearrangements in lung adenocarcinomas.
Lin Lawrence Hsu et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2021 -
The use of a next-generation sequencing-derived machine-learning risk-prediction model (OncoCast-MPM) for malignant pleural mesothelioma: a retrospective study.
Zauderer Marjorie G et al. The Lancet. Digital health 2021 -
Long non-coding RNA profile study identifies a metabolism-related signature for colorectal cancer.
Lu Yongqu et al. Molecular medicine (Cambridge, Mass.) 2021 27(1) 83 -
Exploration of Immune-Related Gene Expression in Osteosarcoma and Association With Outcomes.
Liu Wangmi et al. JAMA network open 2021 4(8) e2119132 -
Investigating the natural history and prognostic nature of NTRK gene fusions in solid tumors.
Zhu Limin et al. Investigational new drugs 2021
Hereditary Cancer
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Uptake of Genetic Testing Among Cancer Patients at Risk for Lynch Syndrome in the National Health Interview Survey.
Actkins Ky'Era V et al. Cancer prevention research (Philadelphia, Pa.) 2021 -
EUS-based pancreatic cancer surveillance in BRCA1/BRCA2/PALB2/ATM carriers without a family history of pancreatic cancer.
Katona Bryson W et al. Cancer prevention research (Philadelphia, Pa.) 2021 -
The Future of Parallel Tumor and Germline Genetic Testing: Is There a Role for All Patients With Cancer?
Liu Ying L et al. Journal of the National Comprehensive Cancer Network : JNCCN 2021 19(7) 871-878 -
Germline Alterations in Patients With IBD-associated Colorectal Cancer.
Biscaglia Giuseppe et al. Inflammatory bowel diseases 2021 -
Generalizability of Polygenic Risk Scores for Breast Cancer Among Women With European, African, and Latinx Ancestry.
Liu Cong et al. JAMA network open 2021 4(8) e2119084 -
The STHLM3-model, Risk-based Prostate Cancer Testing Identifies Men at High Risk Without Inducing Negative Psychosocial Effects.
Koitsalu Marie et al. European urology open science 2021 2443-51 -
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Lesueur Fabienne et al. Cancers 2021 13(15) -
Recall of genomic testing results among cancer patients.
Wing Sam E et al. The oncologist 2021 -
Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.
Mur Pilar et al. Cancers 2021 13(15) -
Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications.
Sessa Gaetana et al. Cancers 2021 13(15) -
Genetic risk assessment for hereditary renal cell carcinoma: Clinical consensus statement.
Bratslavsky Gennady et al. Cancer 2021 -
No Association of Early-Onset Breast or Ovarian Cancer with Early-Onset Cancer in Relatives in BRCA1 or BRCA2 Mutation Families.
Imbert-Bouteille Marion et al. Genes 2021 12(7) -
Breast cancer polygenic risk scores: a 12-month prospective study of patient reported outcomes and risk management behavior.
Yanes Tatiane et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Chronic Disease
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Monogenic Diabetes in Youth With Presumed Type 2 Diabetes: Results From the Progress in Diabetes Genetics in Youth (ProDiGY) Collaboration.
Todd Jennifer N et al. Diabetes care 2021 -
Genetic kidney diseases as an underrecognized cause of chronic kidney disease: the key role of international registry reports.
Torra Roser et al. Clinical kidney journal 2021 14(8) 1879-1885 -
Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.
Trakadis Y et al. Neurogenetics 2021 -
Insights into non-autoimmune type 1 diabetes with 13 novel loci in low polygenic risk score patients.
Qu Jingchun et al. Scientific reports 2021 11(1) 16013
Ethics/Policy/Law
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Offering preimplantation genetic testing for monogenic disorders (PGT-M) for conditions with reduced penetrance or variants of uncertain significance: Ethical insight from U.S. laboratory genetic counselors.
Porto Anthony et al. Journal of genetic counseling 2021
Practice
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Telehealth for genetic counseling: A systematic evidence review.
Danylchuk Noelle R et al. Journal of genetic counseling 2021 -
Strategies to Integrate Genomic Medicine into Clinical Care: Evidence from the IGNITE Network.
Sperber Nina R et al. Journal of personalized medicine 2021 11(7)
Heart, Lung, Blood and Sleep Diseases
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The promise and role of point of care testing to reduce the global burden of sickle cell disease through early diagnosis and linkage to care.
Dexter Daniel et al. British journal of haematology 2021 -
Blood DNA Methylation and Incident Coronary Heart Disease: Evidence From the Strong Heart Study.
Navas-Acien Ana et al. JAMA cardiology 2021 -
Case Studies in Pediatric Lipid Disorders and Their Management.
Ashraf Ambika P et al. The Journal of clinical endocrinology and metabolism 2021 -
Diagnosis of CF: An evolving and enduring challenge.
Ren Clement L et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2021 -
Health Disparities among adults cared for at an urban cystic fibrosis program.
DiMango Emily et al. Orphanet journal of rare diseases 2021 16(1) 332 -
Pain Intensity Assessment in Sickle Cell Disease Patients Using Vital Signs During Hospital Visits.
Padhee Swati et al. Pattern Recognition : ICPR International Workshops and Challenges, virtual event, January 10-15, 2021, proceedings. Part I. International Conference on Pattern Recognition (25th : 2021 : Online) 2021 1266277-85 -
Investigation on Sudden Unexpected Death in the Young (SUDY) in Europe: results of the European Heart Rhythm Association Survey.
Behr Elijah R et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2021
Pharmacogenomics
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Clinical Relevance of a 16-Gene Pharmacogenetic Panel Test for Medication Management in a Cohort of 135 Patients.
Niedrig David F et al. Journal of clinical medicine 2021 10(15) -
A polygenic-score-based approach for identification of gene-drug interactions stratifying breast cancer risk.
Marderstein Andrew R et al. American journal of human genetics 2021 -
Cardiovascular Pharmacogenomics: An Update on Clinical Studies of Antithrombotic Drugs in Brazilian Patients.
Hirata Thiago Dominguez Crespo et al. Molecular diagnosis & therapy 2021
Reproductive Health
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The Cost-effectiveness of Genotyping versus Sequencing for Prenatal Cystic Fibrosis Carrier Screening.
Avram Carmen M et al. Prenatal diagnosis 2021 -
Performance of a universal prenatal screening program incorporating cell-free fetal DNA analysis in Ontario, Canada.
Dougan Shelley D et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2021 193(30) E1156-E1163 -
Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD).
Mohan P et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021