Published on 04/04/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Evaluation of Seizure Etiology From Routine Testing to Genetic Evaluation.
Schuele Stephan U et al. Continuum (Minneapolis, Minn.) 2019 Apr 25(2) 322-342 -
Diagnosis, Intervention, and Prevention of Genetic Hearing Loss.
Yang Tao et al. Advances in experimental medicine and biology 2019 113073-92 -
Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.
Erger Florian et al. Molecular and cellular probes 2019 Mar -
Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance.
Amado-Puentes Alfonso et al. Neuropediatrics 2019 Apr -
The combination of whole-exome sequencing and clinical analysis allows better diagnosis of rare syndromic retinal dystrophies.
Abu Diab Alaa et al. Acta ophthalmologica 2019 Mar -
Facioscapulohumeral muscular dystrophy (FSHD) molecular diagnosis: from traditional technology to the NGS era.
Zampatti Stefania et al. Neurogenetics 2019 Mar -
Application of Single-Nucleotide Polymorphisms in the Diagnosis of Autism Spectrum Disorders: A Preliminary Study with Artificial Neural Networks.
Ghafouri-Fard Soudeh et al. Journal of molecular neuroscience : MN 2019 Apr -
Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients.
Zhang Yan et al. Molecular genetics & genomic medicine 2019 Apr e622
Cancer
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Genetic cancer risk assessment in general practice: systematic review of tools available, clinician attitudes, and patient outcomes.
Evans Will Rh et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2019 Apr 69(681) 177-178 -
Genomic subtyping and therapeutic targeting of acute erythroleukemia.
Iacobucci Ilaria et al. Nature genetics 2019 Apr 51(4) 694-704 -
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló Lídia et al. International journal of cancer 2019 Mar -
Use of targeted next generation sequencing to characterize tumor mutational burden and efficacy of immune checkpoint inhibition in small cell lung cancer.
Ricciuti Biagio et al. Journal for immunotherapy of cancer 2019 Mar 7(1) 87 -
Single-center study of Lynch syndrome screening in colorectal polyps.
Zhu FangChao et al. Hereditary cancer in clinical practice 2019 179 -
Selected features of breast and peritoneal cancers diagnosed in BRCA1 carriers after risk-reducing salpingo-oophorectomy.
Menkiszak Janusz et al. Hereditary cancer in clinical practice 2019 1710 -
Identification of an eight-gene signature for survival prediction for patients with hepatocellular carcinoma based on integrated bioinformatics analysis.
Qiao Guo-Jie et al. PeerJ 2019 7e6548 -
Genomic profiling in pancreatic ductal adenocarcinoma and a pathway towards therapy individualization: A scoping review.
Singh Ritu R et al. Cancer treatment reviews 2019 Mar 7527-38 -
Clinical assessment and identification of immuno-oncology markers concerning the 19-gene based risk classifier in stage IV colorectal cancer.
Lee Jong Lyul et al. World journal of gastroenterology 2019 Mar 25(11) 1341-1354 -
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.
Cini Giulia et al. Molecular genetics & genomic medicine 2019 Mar e587 -
Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies.
Sarode Venetia R et al. Archives of pathology & laboratory medicine 2019 Mar -
A Simple and Highly Specific MassARRAY-Based Stool DNA Assay to Prioritize Follow-up Decisions in Fecal Immunochemical Test-Positive Individuals.
Chang Pi-Yueh et al. Cancers 2019 Mar 11(3) -
Knowledge, attitudes and practice of physicians towards fertility and pregnancy-related issues in youngBRCA-mutated breast cancer patients.
Lambertini Matteo et al. Reproductive biomedicine online 2019 Jan -
The Clinical Utility of the Genomic Prostate Score in Men with Very Low to Intermediate Risk Prostate Cancer.
Gaffney Christopher et al. The Journal of urology 2019 Feb 101097JU0000000000000170 -
Genomic Evaluation of Multiparametric Magnetic Resonance Imaging-visible and -nonvisible Lesions in Clinically Localised Prostate Cancer.
Parry Marina A et al. European urology oncology 2019 Feb 2(1) 1-11 -
Cell-free DNA in the supernatant of pleural effusion can be used to detect driver and resistance mutations, and can guide tyrosine kinase inhibitor treatment decisions.
Hummelink Karlijn et al. ERJ open research 2019 Feb 5(1)
Chronic Disease
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A Machine Learning Classifier for Assigning Individual Patients with Systemic Sclerosis to Intrinsic Molecular Subsets.
Franks Jennifer M et al. Arthritis & rheumatology (Hoboken, N.J.) 2019 Mar -
Economics of Genetic Testing for Diabetes.
Naylor Rochelle et al. Current diabetes reports 2019 Mar 19(5) 23 -
Analysis of 50 Neurodegenerative Genes in Clinically Diagnosed Early-Onset Alzheimer's Disease.
Giau Vo Van et al. International journal of molecular sciences 2019 Mar 20(6) -
Lack of consensus in ALS genetic testing practices and divergent views between ALS clinicians and patients.
Klepek Holly et al. Amyotrophic lateral sclerosis & frontotemporal degeneration 2019 Apr 1-6
Ethics/Policy/Law
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Genomic Testing for Human Health and Disease Across the Life Cycle: Applications and Ethical, Legal, and Social Challenges.
Bilkey Gemma A et al. Frontiers in public health 2019 740 -
A duty to recontact in genetics: context matters.
Giesbertz Noor A A, et al. Nature reviews. Genetics 2019 4 0. -
Managing the Unimaginable: Biobank Participant Views on Reconsent for Whole Genome Sequencing of Stored Biospecimens.
Sutton Erica J et al. Biopreservation and biobanking 2019 Mar -
Attitudes toward the right to autonomous decision-making in psychiatric genetic testing: Controversial and context-dependent.
Strohmaier Jana et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 Mar -
UK Biobank, big data, and the consequences of non-representativeness.
Keyes Katherine M et al. Lancet (London, England) 2019 Mar 393(10178) 1297
Practice
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Personalized and precision medicine as informants for treatment management of bipolar disorder.
Perugi Giulio et al. International clinical psychopharmacology 2019 Mar -
Genomic Common Data Model for Seamless Interoperation of Biomedical Data in Clinical Practice: Retrospective Study.
Shin Seo Jeong et al. Journal of medical Internet research 2019 Mar 21(3) e13249 -
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Milo Rasouly Hila et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr
Heart, Lung, Blood and Sleep Diseases
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Pharmacogenomics of chronic obstructive pulmonary disease.
Hersh Craig P et al. Expert review of respiratory medicine 2019 Mar -
Assessing the Hereditary Hemorrhagic Telangiectasia Algorithms in a Community-Based Patient Population.
Saparia Tina et al. The Permanente journal 2019 23 -
Brugada Syndrome: Progress in Genetics, Risk Stratification and Management.
Romero Jorge et al. Arrhythmia & electrophysiology review 2019 Mar 8(1) 19-27 -
Identification of biomarkers and genetic approaches toward chronic obstructive pulmonary disease.
Wadhwa Ridhima et al. Journal of cellular physiology 2019 Mar
Pharmacogenomics
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Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.
Hocevar Keli et al. Frontiers in pharmacology 2019 10240 -
Personal genome testing on physicians improves attitudes on pharmacogenomic approaches.
Lee Kye Hwa et al. PloS one 2019 14(3) e0213860 -
The role of pharmacogenomics in adverse drug reactions.
Cacabelos Ramón et al. Expert review of clinical pharmacology 2019 Mar -
Pharmacogenomic considerations for antiplatelet agents: the era of precision medicine in stroke prevention and neurointerventional practice.
Bonney Phillip A et al. Cold Spring Harbor molecular case studies 2019 Apr 5(2)
Reproductive Health
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Higher chromosomal aberration rate in miscarried conceptus from polycystic ovary syndrome women undergoing assisted reproductive treatment.
Li Ying et al. Fertility and sterility 2019 Mar -
Comparison of Efficiencies of Non-invasive Prenatal Testing, Karyotyping, and Chromosomal Micro-Array for Diagnosing Fetal Chromosomal Anomalies in the Second and Third Trimesters.
Zhu Yiyang et al. Frontiers in genetics 2019 1069 -
Role of aneuploidy screening in preimplantation genetic testing for monogenic diseases in young women.
Hou Wenhui et al. Fertility and sterility 2019 Mar -
Performance of preimplantation genetic testing for aneuploidy in IVF cycles for patients with advanced maternal age, repeat implantation failure, and idiopathic recurrent miscarriage.
Lee Chun-I et al. Taiwanese journal of obstetrics & gynecology 2019 Mar 58(2) 239-243 -
Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta.
Hill Melissa et al. European journal of human genetics : EJHG 2019 Mar -
Factors associated with obtaining results on repeat cell-free DNA testing in samples redrawn due to insufficient fetal fraction.
White Karen 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 Mar 1-6 -
Factors influencing the clinical outcome of preimplantation genetic testing for polycystic kidney disease.
Berckmoes V et al. Human reproduction (Oxford, England) 2019 Mar -
The impact of hereditary angioedema on quality of life and family planning decisions.
Kuman Tunçel Özlem et al. International journal of psychiatry in medicine 2019 Mar 91217419837068