Published on 04/16/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón Noelia et al. Archivos de bronconeumologia 2020 Apr -
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas Muhsin et al. Molecular syndromology 2020 Feb 11(1) 4-14 -
Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population.
Frazer Lauren C et al. Pediatric research 2020 Apr -
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation (MPI-CDG).
Cechová Anna et al. Journal of inherited metabolic disease 2020 Apr
Cancer
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Germline Testing for Patients With BRCA1/2 Mutations on Somatic Tumor Testing.
Vlessis Katherine et al. JNCI cancer spectrum 2020 Feb 4(1) pkz095 -
Burden of hereditary cancer susceptibility in unselected patients with pancreatic ductal adenocarcinoma referred for germline screening.
Cremin Carol et al. Cancer medicine 2020 Apr -
NCCN Guidelines Insights: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 1.2020.
Daly Mary B et al. Journal of the National Comprehensive Cancer Network : JNCCN 2020 18(4) 380-391 -
The impact of communicating uncertain test results in cancer genetic counseling: A systematic mixed studies review.
Medendorp Niki M et al. Patient education and counseling 2020 Mar -
Uncertainty in the Process of Communicating Cancer-related Genetic Risk Information with Patients: A Scoping Review.
Hong Soo Jung et al. Journal of health communication 2020 Apr 1-20 -
A 10-gene prognostic methylation signature for stage I-III cervical cancer.
Cai Shengyun et al. Archives of gynecology and obstetrics 2020 Apr -
A 17-Gene Panel Genomic Prostate Score has Similar Predictive Accuracy for Adverse Pathology at Radical Prostatectomy in African American and European American Men.
Murphy Adam B et al. Urology 2020 Apr -
Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.
Steeghs Elisabeth M P et al. BMC cancer 2020 Apr 20(1) 291 -
Genetics and Genomics of Breast Cancer: update and translational perspectives.
Biancolella Michela et al. Seminars in cancer biology 2020 Apr -
JSCO/ESMO/ASCO/JSMO/TOS: International expert consensus recommendations for tumour-agnostic treatments in patients with solid tumours with microsatellite instability or NTRK fusions.
Yoshino T et al. Annals of oncology : official journal of the European Society for Medical Oncology 2020 Apr
Chronic Disease
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Volunteering, polygenic risk for Alzheimer's disease, and cognitive functioning among older adults.
Han Sae Hwang et al. Social science & medicine (1982) 2020 Apr 253112970 -
A genomic biomarker-based model for cancer risk stratification of non-dysplastic Barrett's esophagus patients after extended follow up; results from Dutch surveillance cohorts.
Hoefnagel S J M et al. PloS one 2020 15(4) e0231419
Ethics/Policy/Law
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Why African Americans say "No": A Study of Pharmacogenomic Research Participation.
Nooruddin Mohammed et al. Ethnicity & disease 2020 30(Suppl 1) 159-166 -
Can Precision Medicine Actually Help People Like Me? African American and Hispanic Perspectives on the Benefits and Barriers of Precision Medicine.
Yeh Vivian M et al. Ethnicity & disease 2020 30(Suppl 1) 149-158
Practice
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Understanding access to genomics in an ethnically diverse south Florida population: A comparison of demographics in odyssey and rapid whole genome sequencing programs.
Hussain Saida B et al. Journal of genetic counseling 2020 Apr -
Financial barriers in a county genetics clinic: Problems and solutions.
Erwin Deanna J et al. Journal of genetic counseling 2020 Apr -
A new tool CovReport generates easy-to-understand sequencing coverage summary for diagnostic reports.
Gorokhov Mark et al. Scientific reports 2020 Apr 10(1) 6247 -
New generation genetic testing entering the clinic.
Gorcenco Sorina et al. Parkinsonism & related disorders 2020 Mar -
The opportunity in African genome resource for precision medicine.
Fatumo Segun et al. EBioMedicine 2020 Apr 54102721
Heart, Lung, Blood and Sleep Diseases
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Nutrition and physical activity intervention for families with familial hypercholesterolaemia: protocol for a pilot randomised controlled feasibility study.
Kinnear Fiona J et al. Pilot and feasibility studies 2020 642 -
Participatory Genomic Testing Can Effectively Disseminate Cardiovascular Pharmacogenomics Concepts within Federally Qualified Health Centers: A Feasibility Study.
Johnson Amber et al. Ethnicity & disease 2020 30(Suppl 1) 167-176 -
Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease.
Lannoy Nathalie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Apr -
The clinical and laboratory investigation of dysbetalipoproteinemia.
Boot Christopher S et al. Critical reviews in clinical laboratory sciences 2020 Apr 1-12
Newborn Screening
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Newborn screening of mucopolysaccharidoses: past, present, and future.
Arunkumar Nivethitha et al. Journal of human genetics 2020 Apr -
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli Mahya et al. Frontiers in immunology 2020 11455
Pharmacogenomics
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Survey of physicians' views on the clinical implementation of pharmacogenomics-based personalized therapy.
Kim Woo-Young et al. Translational and clinical pharmacology 2020 Mar 28(1) 34-42 -
Pharmacogenomics of breast cancer: highlighting CYP2D6 and tamoxifen.
Chan Carmen W H et al. Journal of cancer research and clinical oncology 2020 Apr
Reproductive Health
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Non-reportable rates and cell-free DNA profiles in non-invasive prenatal testing among women with heparin treatment.
Nakamura Noriyuki et al. Prenatal diagnosis 2020 Apr -
Detection rates and residual risk for a postnatal diagnosis of an atypical chromosome aberration following first trimester combined screening.
Iwarsson Erik et al. Prenatal diagnosis 2020 Apr -
Clinical Utility of a High-Resolution Melting Test for Screening Numerical Chromosomal Abnormalities in Recurrent Pregnancy Loss.
Zhou Yulin et al. The Journal of molecular diagnostics : JMD 2020 Apr -
Most Non Invasive Prenatal Screens Failing Due to Inadequate Fetal Cell Free DNA are Negative for Trisomy when Repeated.
Lopes Jaime L et al. Prenatal diagnosis 2020 Apr -
Clinical experience regarding the accuracy of NIPT in the detection of sex chromosome abnormality.
Zheng Yunyun et al. The journal of gene medicine 2020 Apr e3199