Published on 05/02/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti Alessandra et al. European journal of pediatrics 2019 May 178(5) 739-753 -
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi Cristina et al. Frontiers in immunology 2019 10316 -
Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729 -
Clinical and biochemical outcome of patients with very long-chain acyl-CoA dehydrogenase deficiency.
Rovelli Valentina et al. Molecular genetics and metabolism 2019 Apr -
Autism Data Visualization Tool
Explore the information to see autism spectrum disorder (ASD) prevalence estimates and demographic characteristics at the national, state, and community levels.
Cancer
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Clinical significance of 21-gene recurrence score assay for hormone receptor-positive, lymph node-negative breast cancer in early stage.
Yu-Qing Yang et al. Experimental and molecular pathology 2019 Apr 108150-155 -
Genomic testing in early stage invasive male breast cancer: An NCDB analysis from 2008 to 2014.
Dubrovsky Esther et al. The breast journal 2019 May 25(3) 425-433 -
Complicated prognostic values of CCL28 in breast cancer by subtype.
Gong Di-He et al. Journal of thoracic disease 2019 Mar 11(3) 777-787 -
The landscape of selection in 551 esophageal adenocarcinomas defines genomic biomarkers for the clinic.
Frankell Alexander M et al. Nature genetics 2019 51(3) 506-516 -
Development and testing of the KnowGene scale to assess general cancer genetic knowledge related to multigene panel testing.
Underhill-Blazey Meghan et al. Patient education and counseling 2019 Apr -
The Burden of Breast Cancer Predisposition Variants Across The Age Spectrum Among 10 000 Patients.
Chavarri-Guerra Yanin et al. Journal of the American Geriatrics Society 2019 May 67(5) 884-888 -
Outcomes of universal germline testing for men with prostate cancer in an Australian tertiary center.
Crumbaker Megan et al. Asia-Pacific journal of clinical oncology 2019 Apr -
Genomic and transcriptomic profiling expands precision cancer medicine: the WINTHER trial.
Rodon Jordi et al. Nature medicine 2019 Apr -
Utility of ctDNA to support patient selection for early phase clinical trials: the TARGET study.
Rothwell Dominic G et al. Nature medicine 2019 Apr -
Shared-patient physician networks and their impact on the uptake of genomic testing in breast cancer.
Rotter Jason et al. Breast cancer research and treatment 2019 Apr -
Prospective colonoscopic study to investigate risk of colorectal neoplasms in first-degree relatives of patients with non-advanced adenomas.
Ng Siew C et al. Gut 2019 Apr -
Multicenter optimization and validation of a 2-gene mRNA urine test for detection of clinically significant prostate cancer prior to initial prostate biopsy.
Haese Alexander et al. The Journal of urology 2019 Apr 101097JU0000000000000293 -
Targeted Cancer Next Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers.
Christakis Alexander G et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Apr -
A 17-Gene Genomic Prostate Score as a Predictor of Adverse Pathology for Men on Active Surveillance.
Kornberg Zachary et al. The Journal of urology 2019 Apr 101097JU0000000000000290 -
Distribution and Short-term Prognostic Value of the 21-gene recurrence score in African American compared to White American breast cancer patients.
Amro Ali et al. The breast journal 2019 Apr -
A Panel of 12-lncRNA Signature Predicts Survival of Pancreatic Adenocarcinoma.
Zhang Huo et al. Journal of Cancer 2019 10(6) 1550-1559 -
Prognosis Prediction of Colorectal Cancer Using Gene Expression Profiles.
Pan Feixia et al. Frontiers in oncology 2019 9252 -
Genomic Assessment of Blood-Derived Circulating Tumor DNA in Patients With Colorectal Cancers: Correlation With Tissue Sequencing, Therapeutic Response, and Survival.
Kato Shumei et al. JCO precision oncology 2019 3 -
Next-Generation Sequencing of Uveal Melanoma for Detection of Genetic Alterations Predicting Metastasis.
Afshar Armin R et al. Translational vision science & technology 2019 Mar 8(2) 18 -
Optimizing Patient Selection to Maximize Drug Efficacy: the Expanding Role of Pharmacogenomics in the Clinical Development of Pembrolizumab for the Treatment of Non-Small Cell Lung Cancer.
Dello Russo Cinzia et al. Clinical therapeutics 2019 Apr -
Evaluation of the Incorporation of Recurrence Score into the American Joint Committee on Cancer Eighth Edition Staging System in Patients with T1-2N0M0, Estrogen Receptor-Positive, Human Epidermal Growth Receptor 2-Negative Invasive Breast Cancer: A Population-Based Analysis.
Ding Shuning et al. The oncologist 2019 Apr -
Mismatch Repair/Microsatellite Instability Testing Practices among US Physicians Treating Patients with Advanced/Metastatic Colorectal Cancer.
Eriksson Jennifer et al. Journal of clinical medicine 2019 Apr 8(4) -
Acquired HER2 mutations in ER + metastatic breast cancer confer resistance to estrogen receptor-directed therapies.
Nayar Utthara et al. Nature genetics 2019 51(2) 207-216 -
Effect of chromoendoscopy in the proximal colon on colorectal neoplasia detection in Lynch syndrome: a multicenter randomized controlled trial.
Haanstra Jasmijn F et al. Gastrointestinal endoscopy 2019 Apr
Chronic Disease
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Toward personalized cognitive diagnostics of at-genetic-risk Alzheimer's disease.
Coughlan Gillian et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Apr -
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski Isabel et al. Kidney international 2019 Mar -
Health and lifestyle behaviors in colorectal cancer survivors with and without Lynch syndrome.
Donato Kirsten M et al. Journal of community genetics 2019 Apr
Ethics/Policy/Law
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Current Controversies in Prenatal Diagnosis 3: Gene editing should replace embryo selection following PGD.
Wells Dagan et al. Prenatal diagnosis 2019 Apr 39(5) 344-350 -
A Tale of Two Capacities: Including Children and Decisionally Vulnerable Adults in Biomedical Research.
Dalpé Gratien et al. Frontiers in genetics 2019 10289 -
Public Involvement in Global Genomics Research: A Scoping Review.
Nunn Jack S et al. Frontiers in public health 2019 779
Heart, Lung, Blood and Sleep Diseases
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A Review on the Use of Cystic Fibrosis Transmembrane Conductance Regulator Gene Modulators in Pediatric Patients.
Bitonti Michael et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 33(3) 356-364 -
The Transcriptomic Toolbox: Resources for Interpreting Large Gene Expression Data within a Precision Medicine Context for Metabolic Disease Atherosclerosis.
Marín de Evsikova Caralina et al. Journal of personalized medicine 2019 Apr 9(2) -
Barriers and challenges faced by women with congenital bleeding disorders in Europe: Results of a patient survey conducted by the European Haemophilia Consortium.
Noone Declan et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Apr -
Optimization and application of a dried blood spot-based genetic screening method for thalassemia in Shenzhen newborns.
Wen Wei et al. World journal of pediatrics : WJP 2019 Apr -
Polygenic Hypercholesterolemia and Cardiovascular Disease Risk.
Sharifi Mahtab et al. Current cardiology reports 2019 Apr 21(6) 43 -
Beta Thalassemia: Monitoring and New Treatment Approaches.
Khandros Eugene et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 339-353 -
von Willebrand Disease in Pediatrics: Evaluation and Management.
O'Brien Sarah H et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 425-438 -
Inherited Platelet Disorders: A Modern Approach to Evaluation and Treatment.
Lambert Michele P et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 471-487 -
Rare Hereditary Hemolytic Anemias: Diagnostic Approach and Considerations in Management.
Risinger Mary et al. Hematology/oncology clinics of North America 2019 Jun 33(3) 373-392 -
Ironing out unmet need in genetic haemochromatosis.
The Lancet Gastroenterology Hepatology et al. The lancet. Gastroenterology & hepatology 2019 4(1) 1
Newborn Screening
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ACOG Committee Opinion No. 778 Summary: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) 1073-1074 -
ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist.
et al. Obstetrics and gynecology 2019 May 133(5) e357-e361 -
High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening.
Castro Patrícia S et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Apr -
The role of the NOD2/CARD15 gene in surgical treatment prediction in patients with Crohn's disease.
Kunovsky L et al. International journal of colorectal disease 2019 Feb 34(2) 347-351 -
Newborn screening for SMA in Southern Belgium.
Boemer François et al. Neuromuscular disorders : NMD 2019 Feb -
Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases.
Bick David et al. Journal of medical genetics 2019 Apr
Pharmacogenomics
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Precision medicine: a call for increased pharmacogenomic education.
Ta Richard et al. Personalized medicine 2019 Apr -
Community pharmacists' educational needs for implementing clinical pharmacogenomic services.
Berenbrok Lucas A et al. Journal of the American Pharmacists Association : JAPhA 2019 Apr -
Integrating Next-Generation Sequencing in the Clinical Pharmacogenomics Workflow.
Giannopoulou Efstathia et al. Frontiers in pharmacology 2019 10384 -
A Nationwide Retrospective Observational Study Of Population Newborn Screening For Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency In The Netherlands.
Jager Emmalie A et al. Journal of inherited metabolic disease 2019 Apr
Reproductive Health
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Values and value conflicts in implementation and use of preconception expanded carrier screening - an expert interview study.
Matar Amal et al. BMC medical ethics 2019 Apr 20(1) 25 -
Where are we going with gene screening for male infertility?
Thirumavalavan Nannan et al. Fertility and sterility 2019 May 111(5) 842-850 -
Impact of introduction of non-invasive prenatal testing on uptake of genetic testing in fetuses with central nervous system anomalies.
Al Toukhi Samar et al. Prenatal diagnosis 2019 Apr -
Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA: Noninvasive Prenatal Diagnosis.
Dello Russo Claudio et al. The Journal of molecular diagnostics : JMD 2019 Apr -
Validation of concurrent preimplantation genetic testing for polygenic and monogenic disorders, structural rearrangements, and whole and segmental chromosome aneuploidy with a single universal platform.
Treff Nathan R et al. European journal of medical genetics 2019 Apr -
Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases.
Xu Li-Li 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 Apr 1-11 -
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey Erin L et al. The Journal of molecular diagnostics : JMD 2019 Apr