Published on 02/27/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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
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
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