Published on 01/21/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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POLG-associated ataxias can represent a substantial part of recessive and sporadic ataxias in adults.
Nuzhnyi Evgenii et al. Clinical neurology and neurosurgery 2021 Jan 201106462 -
Diagnostic genetic testing for neurodevelopmental psychiatric disorders: closing the gap between recommendation and clinical implementation.
Finucane Brenda M et al. Current opinion in genetics & development 2021 Jan 681-8
Cancer Genomics
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Consistency of genotyping data from simultaneously collected plasma circulating tumor DNA and tumor-DNA in lung cancer patients.
Zhang Jiali et al. Journal of thoracic disease 2020 Dec 12(12) 7290-7297 -
Adjuvant Chemotherapy for Patients with Breast Cancer Based on Clinical and Evolving Oncotype DX Criteria.
Zekri Jamal et al. Breast care (Basel, Switzerland) 2020 Dec 15(6) 642-647 -
Concordance of the 21-gene assay between core needle biopsy and resection specimens in early breast cancer patients.
Qi Peng et al. Breast cancer research and treatment 2021 Jan -
Matched sequential tumor molecular profiling in solid malignancies may impact clinical practice.
Lai Tiffany S et al. Cancer genetics 2020 Dec 252-25373-79
Hereditary Cancer
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Implementing Systematic Genetic Counseling and Multigene Germline Testing for Individuals With Pancreatic Cancer.
Chittenden Anu et al. JCO oncology practice 2021 Jan OP2000678 -
Breast cancer risk after age 60 among BRCA1 and BRCA2 mutation carriers.
Stjepanovic Neda et al. Breast cancer research and treatment 2021 Jan -
Screening and Preventative Strategies for Patients at High Risk for Breast Cancer.
Ter-Minassian Monica et al. JCO oncology practice 2021 Jan OP2000262 -
Comparison of universal screening in major lynch-associated tumors: a systematic review of literature.
Kunnackal John George et al. Familial cancer 2021 Jan -
Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.
Xu Yun et al. BMC cancer 2021 Jan 21(1) 45 -
Facilitated cascade testing (FaCT): a randomized controlled trial.
Nitecki Roni et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Dec -
A randomized experimental study to test the effects of discussing uncertainty during cancer genetic counseling: different strategies, different outcomes?
Medendorp Niki M et al. European journal of human genetics : EJHG 2021 Jan -
Rare Germline Variants in ATM Predispose to Prostate Cancer: A PRACTICAL Consortium Study.
Karlsson Questa et al. European urology oncology 2021 Jan -
Advances in genetic technologies result in improved diagnosis of mismatch repair deficiency in colorectal and endometrial cancers.
Evans D Gareth et al. Journal of medical genetics 2021 Jan
Chronic Disease
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Differentially methylated regions (DMRs) in PON3 gene between responders and non-responders to a weight loss dietary intervention: a new tool for precision management of obesity.
Salas-Pérez Francisca et al. Epigenetics 2021 Jan -
Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing.
Mallawaarachchi Amali C et al. European journal of human genetics : EJHG 2021 Jan -
Current insights into the genetics of food allergy.
Kanchan Kanika et al. The Journal of allergy and clinical immunology 2021 Jan 147(1) 15-28
Ethics/Policy/Law
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Ethical and Psychosocial Implications of Genomic Newborn Screening.
Levy Harvey L, et al. International journal of neonatal screening 2021 1 0. (1) -
Development and Use of Gene Therapy Orphan Drugs-Ethical Needs for a Broader Cooperation Between the Pharmaceutical Industry and Society.
Kerpel-Fronius Sandor et al. Frontiers in medicine 2020 7608249 -
Ethical Principles, Constraints and Opportunities in Clinical Proteomics.
Mann Sebastian Porsdam et al. Molecular & cellular proteomics : MCP 2021 Jan 100046 -
Toward a Framework for Assessing Privacy Risks in Multi-Omic Research and Databases.
Dupras Charles et al. The American journal of bioethics : AJOB 2021 Jan 1-32
Practice
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Adopted individuals' interest in elective genomic testing.
Edgar Jessica et al. Journal of medical genetics 2020 Dec
Heart, Lung, Blood and Sleep Diseases
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A Polygenic Risk Score for Low-density Lipoprotein Cholesterol is Associated with Risk of Ischemic Heart Disease and Enriches for Individuals with Familial Hypercholesterolemia.
Wu Haoyu et al. Circulation. Genomic and precision medicine 2021 Jan -
Bibliometric analysis of global sickle cell disease research from 1997 to 2017.
Okoroiwu Henshaw Uchechi et al. Hematology, transfusion and cell therapy 2020 Dec -
Current and novel therapeutic strategies for the management of cystic fibrosis.
Gbian Douweh Leyla et al. Expert opinion on drug delivery 2021 Jan -
Prevalence of cardiovascular events in genetically confirmed versus unconfirmed familial hypercholesterolaemia.
Khan Tina Z et al. Global cardiology science & practice 2020 Nov 2020(2) e202024 -
Familial hypercholesterolemia and cardiovascular disease in older individuals.
Coutinho Elaine R et al. Atherosclerosis 2020 Dec 31832-37 -
Morbidity, risk of cancer and mortality in 3,645 HFE mutations carriers.
Hagström Hannes et al. Liver international : official journal of the International Association for the Study of the Liver 2021 Jan
Newborn Screening
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[Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns].
Lei Jie et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Jan 38(1) 32-36 -
Methods and feasibility study for exome sequencing as a universal second-tier test in newborn screening.
Ruiz-Schultz Nicole et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan
Pharmacogenomics
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Prediction of lithium response using genomic data.
Stone William et al. Scientific reports 2021 Jan 11(1) 1155 -
PharmVar GeneFocus: CYP2B6.
Desta Zeruesenay et al. Clinical pharmacology and therapeutics 2021 Jan -
Opportunity for Genotype-Guided Prescribing Among Adult Patients in 11 U.S. Health Systems.
Kevin Hicks J et al. Clinical pharmacology and therapeutics 2021 Jan -
Association between COMT methylation and response to treatment in children with ADHD.
Fageera Weam et al. Journal of psychiatric research 2021 Jan 13586-93 -
Impact of Previous Genetic Counseling and Objective Numeracy on Accurate Interpretation of a Pharmacogenetics Test Report.
Drelles Kelly et al. Public health genomics 2021 Jan 1-7 -
Exemplar scoring identifies genetically separable phenotypes of lithium responsive bipolar disorder.
Nunes Abraham et al. Translational psychiatry 2021 Jan 11(1) 36
Reproductive Health
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Non-invasive prenatal testing: clinical utility and ethical concerns about recent advances.
Thomas Joseph et al. The Medical journal of Australia 2021 Jan -
Preimplantation genetic testing (PGT) for copy number variants of uncertain significance (CNV- VUS) in the genomic era: to do or not to do?
Rotshenker-Olshinka Keren et al. Journal of assisted reproduction and genetics 2021 Jan -
Beyond diagnostic yield: prenatal exome sequencing results in maternal, neonatal, and familial clinical management changes.
Tolusso Leandra K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Jan -
Evaluating the Efficacy of Three Carrier Screening Workflows Designed to Identify At-Risk Carrier Couples.
Arjunan Aishwarya et al. Prenatal diagnosis 2021 Jan -
The Reproductive Journey in the Genomic Era: From Preconception to Childhood.
Garcia-Herrero Sandra et al. Genes 2020 Dec 11(12)