Published on 02/27/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61 -
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel Adam J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Feb -
Leber congenital amaurosis: Current genetic basis, scope for genetic testing and personalized medicine.
Kondkar Altaf A et al. Experimental eye research 2019 189107834 -
Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.
Eskes Eline C B et al. Molecular genetics and metabolism 2020 Feb
Cancer
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Blood test shows high accuracy in detecting stage I non-small cell lung cancer.
Goebel Cherylle et al. BMC cancer 2020 Feb 20(1) 137 -
Clinical vs genomic risks in breast cancer in 2019: Breast pathologist's appellate review of the controversial results from TAILORx trial.
Wei Christina H et al. The breast journal 2020 Feb -
Validation of a 2-gene mRNA urine test for the detection of ≥GG2 prostate cancer in an opportunistic screening population.
Rubio-Briones Jose et al. The Prostate 2020 Feb -
Current concepts in breast cancer genomics: An evidence based review by the CGC breast cancer working group.
Geiersbach Katherine B et al. Cancer genetics 2020 Feb 24411-20 -
The contribution of germline predisposition gene mutations to clinical subtypes of invasive breast cancer from a clinical genetic testing cohort.
Hu Chunling et al. Journal of the National Cancer Institute 2020 Feb -
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer.
Chen Bo et al. Aging 2020 Feb 12 -
The Prognostic Value of 18 F-FDG PET/CT and KRAS Mutation in Colorectal Cancers
Arslan Esra et al. Molecular imaging and radionuclide therapy 2020 Feb 29(1) 17-24 -
Clinical applications of polygenic breast cancer risk: a critical review and perspectives of an emerging field.
Yanes Tatiane et al. Breast cancer research : BCR 2020 Feb 22(1) 21 -
Prognostic values of a novel multi-mRNA signature for predicting relapse of cholangiocarcinoma.
Guo Han et al. International journal of biological sciences 2020 16(5) 869-881 -
Fertility preservation in BRCA mutation carriers-efficacy and safety issues: a review.
Zhang Xiaofu et al. Reproductive biology and endocrinology : RB&E 2020 Feb 18(1) 11 -
Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.
Heeke Simon et al. Journal of translational medicine 2020 Feb 18(1) 87 -
Detection of BRCA1/2 Large Genomic Rearrangement including BRCA1 Promoter-Region Deletions using Next-Generation Sequencing.
Han Eunhee et al. Clinica chimica acta; international journal of clinical chemistry 2020 Feb -
An evidence-based guideline on the application of molecular testing in the diagnosis, prediction of prognosis, and selection of therapy in non-GIST soft tissue sarcomas.
Yao Xiaomei et al. Cancer treatment reviews 2020 Feb 85101987 -
"Balancing Expectations with Actual Realities": Conversations with Clinicians and Scientists in the First Year of a High-Risk Childhood Cancer Precision Medicine Trial.
McGill Brittany C et al. Journal of personalized medicine 2020 Feb 10(1) -
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal Sun Hee et al. BioMed research international 2020 20203289023
Chronic Disease
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The Ckd. Qld fabRy Epidemiology (aCQuiRE) study protocol: identifying the prevalence of Fabry disease amongst patients with kidney disease in Queensland, Australia.
Mallett Andrew et al. BMC nephrology 2020 Feb 21(1) 58
Ethics/Policy/Law
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Broad consent in practice: lessons learned from a hospital-based biobank for prospective research on genomic and medical data.
Barazzetti Gaia et al. European journal of human genetics : EJHG 2020 Feb -
The Fraught Reality of Genomic Sequencing.
et al. The American journal of nursing 2020 Mar 120(3) 14 -
Genomic data sharing in Europe is Stumbling-Could a code of conduct prevent its fall?
Molnár-Gábor Fruzsina et al. EMBO molecular medicine 2020 Feb e11421 -
Editorial: Topical ethical issues in the publication of human genetics research.
Curtis David et al. Annals of human genetics 2020 Feb
Practice
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Introduction to the special issue on "Genetic Screening and Testing".
Mitchell Anna L et al. Birth defects research 2020 Feb -
Evaluating a genetic counseling narrative group session for people who have tested positive for the Huntington's disease expansion: An interpretative phenomenological analysis.
Spiers Johanna et al. Journal of genetic counseling 2020 Feb -
The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad.
Kilbride Madison K et al. JAMA 2020 Feb
Heart, Lung, Blood and Sleep Diseases
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Therapeutic genome editing in cardiovascular diseases.
Nishiga Masataka et al. Advanced drug delivery reviews 2020 Feb -
Advantages and Perils of Clinical Whole-Exome and Whole-Genome Sequencing in Cardiomyopathy.
Mazzarotto Francesco et al. Cardiovascular drugs and therapy 2020 Feb -
Genetic Heart Diseases: Familial Aortopathies - State of the Art Review.
Zentner Dominica et al. Heart, lung & circulation 2019 Dec
Newborn Screening
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Five years of screening for galactosaemia in South Africa: pitfalls of using Benedict's test and thin layer chromatography to screen for galactosaemia in a developing country.
Satekge Tumelo M et al. Clinica chimica acta; international journal of clinical chemistry 2020 Feb -
Utilization of archived neonatal dried blood spots for genome-wide genotyping.
Sok Pagna et al. PloS one 2020 15(2) e0229352 -
Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
Pharmacogenomics
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Opinion, experience and educational preferences concerning pharmacogenomics: an exploratory study of Quebec pharmacists.
Meloche Maxime et al. Pharmacogenomics 2020 Feb -
Clinical implementation of pharmacogenomics via a health system-wide research biobank: the University of Colorado experience.
Aquilante Christina L et al. Pharmacogenomics 2020 Feb -
Pharmacogenomics in pregnancy.
Betcher Hannah K et al. Seminars in perinatology 2020 Jan 151222 -
CYP2D6 polymorphism and its impact on the clinical response to metoprolol: A systematic review and meta-analysis.
Meloche Maxime et al. British journal of clinical pharmacology 2020 Feb -
Implementation of Pharmacogenetics in Primary Care: A Multi-Stakeholder Perspective.
Rigter Tessel et al. Frontiers in genetics 2020 1110
Reproductive Health
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Using miRNAs as diagnostic biomarkers for male infertility: opportunities and challenges.
Vashisht A et al. Molecular human reproduction 2020 Feb -
Preimplantation Genetic Testing: ACOG Committee Opinion, Number 799.
et al. Obstetrics and gynecology 2020 Mar 135(3) e133-e137 -
Preimplantation Genetic Testing: ACOG Committee Opinion Summary, Number 799.
et al. Obstetrics and gynecology 2020 Mar 135(3) 752-753 -
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
Amor David J et al. Prenatal diagnosis 2020 Feb -
Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.
Yotsumoto Junko et al. BMC pregnancy and childbirth 2020 Feb 20(1) 112