Published on 04/16/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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 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
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
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