Published on 11/21/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Diagnostic Yield of a Targeted Next-Generation Sequencing Gene Panel for Pediatric-Onset Movement Disorders: A 3-Year Cohort Study.
Graziola Federica et al. Frontiers in genetics 2019 101026 -
Evaluation of earlier versus later dietary management in long-chain 3-hydroxyacyl-CoA dehydrogenase or mitochondrial trifunctional protein deficiency: a systematic review.
Fraser Hannah et al. Orphanet journal of rare diseases 2019 Nov 14(1) 258 -
Genetic analysis of 62 Chinese families with Duchenne muscular dystrophy and strategies of prenatal diagnosis in a single center.
Zhang Jingjing et al. BMC medical genetics 2019 Nov 20(1) 180 -
A rare disease patient/caregiver perspective on fair pricing and access to gene-based therapies.
White Wendy et al. Gene therapy 2019 Nov -
PHENOTYPE-GUIDED GENETIC TESTING OF PEDIATRIC INHERITED RETINAL DISEASE IN THE UNITED ARAB EMIRATES.
Khan Arif O et al. Retina (Philadelphia, Pa.) 2019 Nov -
Next-generation sequencing-aided precise diagnosis of Stickler syndrome type I.
Wang Dan-Dan et al. Acta ophthalmologica 2019 Nov -
Medical Minute: How to discuss family health history with children,
Penn State Health, November 13, 2019
Cancer
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Knowledge and opinions regarding BRCA1 and BRCA2 genetic testing among primary care physicians.
Dekanek Erin W et al. Journal of genetic counseling 2019 Nov -
Development of Genome-Derived Tumor Type Prediction to Inform Clinical Cancer Care.
Penson Alexander et al. JAMA oncology 2019 Nov -
Risk-Adapted Starting Age of Screening for Relatives of Patients With Breast Cancer.
Mukama Trasias et al. JAMA oncology 2019 Nov -
Colorectal cancer screening for patients with a family history of colorectal cancer or adenomas.
Wilkinson Anna N et al. Canadian family physician Medecin de famille canadien 2019 Nov 65(11) 784-789 -
The value of FGF9 as a novel biomarker in the diagnosis of prostate cancer.
Cui Genggang et al. Artificial cells, nanomedicine, and biotechnology 2019 Dec 47(1) 2241-2245 -
Validation of a serum 4-microRNA signature for the detection of lung cancer.
Yang Xia et al. Translational lung cancer research 2019 Oct 8(5) 636-648 -
Intrinsic radiosensitivity, genomic-based radiation dose and patterns of failure of penile cancer in response to adjuvant radiation therapy.
Yuan Zhigang et al. Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology 24(6) 593-599 -
Prospective study to define the clinical utility and benefit of Decipher testing in men following prostatectomy.
Marascio Joseph et al. Prostate cancer and prostatic diseases 2019 Nov -
Impact of the 2018 ASCO/CAP guidelines on HER2 fluorescence in situ hybridization interpretation in invasive breast cancers with immunohistochemically equivocal results.
Wang Bo et al. Scientific reports 2019 Nov 9(1) 16726 -
Colorectal cancer screening behaviors of general surgeons and first-degree family members: a survey-based study.
Celik Suleyman Utku et al. BMC gastroenterology 2019 Nov 19(1) 183 -
Psychosocial effects of whole-body MRI screening in adult high-risk pathogenic TP53 mutation carriers: a case-controlled study (SIGNIFY).
Bancroft Elizabeth K et al. Journal of medical genetics 2019 Nov -
High-Yield Methylation Markers for Stool-Based Detection of Colorectal Cancer.
Liu Xianglin et al. Digestive diseases and sciences 2019 Nov -
Detection of rare and novel EGFR mutations in NSCLC patients: Implications for treatment-decision.
Sousa A C et al. Lung cancer (Amsterdam, Netherlands) 2019 Nov 13935-40 -
Estimated number of adult survivors of childhood cancer in United States with cancer-predisposing germline variants.
Wilson Carmen L et al. Pediatric blood & cancer 2019 Nov e28047
Chronic Disease
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Value-based genomic screening: exploring genomic screening for chronic diseases using triple value principles.
Dombrádi Viktor et al. BMC health services research 2019 Nov 19(1) 823 -
Polygenic Risk Score Contribution to Psychosis Prediction in a Target Population of Persons at Clinical High Risk.
Perkins Diana O et al. The American journal of psychiatry 2019 Nov appiajp201918060721 -
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla M Adela et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2019 Nov
Ethics/Policy/Law
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Considering Equity in Assessing Familial Benefit From the Return of Genomic Research Results.
Goldenberg Aaron J et al. Pediatrics 2019 Nov -
Ethical Issues in Newborn Sequencing Research: The Case Study of BabySeq.
Ross Lainie Friedman et al. Pediatrics 2019 Nov -
Changing the Conversation about The Ethics of Genomics and Health Disparities Research with American Indian and Alaska Native Communities: A Report from the Field.
Hull Sara Chandros et al. Journal of health care for the poor and underserved 2019 30(4S) 21-26 -
Prioritising African perspectives in psychiatric genomics research: Issues of translation and informed consent.
Kamaara Eunice et al. Developing world bioethics 2019 Nov -
Envisioning Future Research and Clinical Practice with a Bioethics Lens: A Word for the Next Generation of Researchers (<i>All of Us</i> Research Program, Activism, and Policy Implications).
Richardson-Heron Dara et al. Journal of health care for the poor and underserved 2019 30(4S) 36-42 -
Evaluation of current regulation and guidelines of pharmacogenomic drug labels; opportunities for improvements.
Shekhani Rawan et al. Clinical pharmacology and therapeutics 2019 Nov
Practice
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Qualifying and quantifying the precision medicine rhetoric.
Lee Jasmine et al. BMC genomics 2019 Nov 20(1) 868 -
Optimizing efficiency and skill utilization: Analysis of genetic counselors' attitudes regarding delegation in a clinical setting.
Read Parker et al. Journal of genetic counseling 2019 Nov -
Tracking heredity: Family health history matters,
by Treva Lind, The Spokeman-Review, November 13, 2019 -
Diagnostic gene sequencing panels: from design to report-a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Bean Lora J H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov -
Affiliate network members as force amplifiers of genomic medicine research.
Ginsburg Geoffrey S et al. Personalized medicine 2019 Nov 16(6) 431-433
Heart, Lung, Blood and Sleep Diseases
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Targeted molecular genetic testing in young sudden cardiac death victims from Western Denmark.
Larsen Maiken Kudahl et al. International journal of legal medicine 2019 Nov -
Variation in hospital admission of sickle cell patients from the emergency department using the Pediatric Health Information System.
Jacob Seethal A et al. Pediatric blood & cancer 2019 Nov e28067 -
Estimated Life Expectancy and Income of Patients With Sickle Cell Disease Compared With Those Without Sickle Cell Disease.
Lubeck Deborah et al. JAMA network open 2019 Nov 2(11) e1915374 -
Cystic fibrosis precision therapeutics: Emerging considerations.
Joshi Disha et al. Pediatric pulmonology 2019 Nov 54 Suppl 3S13-S17 -
Variant panorama in 1,385 index patients and sensitivity of expanded next-generation sequencing panels in arrhythmogenic disorders.
Marschall Christoph et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S292-S298 -
Hypertrophic cardiomyopathy: genetics and clinical perspectives.
Wolf Cordula Maria et al. Cardiovascular diagnosis and therapy 2019 Oct 9(Suppl 2) S388-S415 -
Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.
Rojnueangnit Kitiwan et al. Pediatric cardiology 2019 Nov
Newborn Screening
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3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?
Wang Huaiyan et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Nov -
Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots.
Scott Clifford Ronald et al. The Journal of pediatrics 2019 Nov
Pharmacogenomics
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Pharma-Oncogenomics in the Era of Personal Genomics: A Quick Guide to Online Resources and Tools.
Joshi Rohan P et al. Advances in experimental medicine and biology 2019 1168103-115 -
Tacrolimus Therapeutic Drug Monitoring in Stable Kidney Transplantation and Individuation of CYP3A5 Genotype.
Allegri L et al. Transplantation proceedings 2019 Nov 51(9) 2917-2920 -
Impact of Pharmacogenomics on Clinical Outcomes for Patients Taking Medications With Gene-Drug Interactions in a Randomized Controlled Trial.
Thase Michael E et al. The Journal of clinical psychiatry 2019 Oct 80(6)
Reproductive Health
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Maternal genetic diseases: potential concerns for mother and baby.
Stone Julie et al. Human genetics 2019 Nov -
Preimplantation Genetic Testing for Aneuploidy Improves Clinical, Gestational, and Neonatal Outcomes in Advanced Maternal Age Patients Without Compromising Cumulative Live-Birth Rate.
Sacchi Laura et al. Journal of assisted reproduction and genetics 2019 Nov -
Robust Preimplantation Genetic Testing of Huntington Disease by Combined Triplet-Primed PCR Analysis of the HTT CAG Repeat and Multi-Microsatellite Haplotyping.
Zhao Mingjue et al. Scientific reports 2019 Nov 9(1) 16481 -
The association of HBB -related significant hemoglobinopathies and low fetal fraction on noninvasive prenatal screening for fetal aneuploidy.
Putra Manesha et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Nov 1-5