Published on 11/07/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Biomarkers for Autism Spectrum Disorders (ASD): A Meta-analysis.
Ansel Ashley et al. Rambam Maimonides medical journal 2019 Oct 10(4) -
Family History Taking in Pediatric Practice: A Qualitative Interview Study.
Tessier Laure et al. Public health genomics 2019 Oct 1-9 -
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
McCreary Dara et al. JAMA network open 2019 Oct 2(10) e1914274
Cancer
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Assessment of the Utility of Gene Positioning Biomarkers in the Stratification of Prostate Cancers.
Meaburn Karen J et al. Frontiers in genetics 2019 101029 -
Should you repeat mismatch repair testing in tumour recurrences? An evaluation of repeat mismatch repair testing by immunohistochemistry in recurrent tumours of the gastrointestinal and gynaecological tracts.
Aird John J et al. Histopathology 2019 Nov -
Who should access Germline Genome Sequencing? A mixed methods study of patient views.
Best Megan C et al. Clinical genetics 2019 Nov -
Impact of Genetic Testing on Risk-Management Behavior of Black Breast Cancer Survivors: A Longitudinal, Observational Study.
Conley Claire C et al. Annals of surgical oncology 2019 Nov -
Factors associated with oncologist discussions of the costs of genomic testing and related treatments.
Yabroff K Robin et al. Journal of the National Cancer Institute 2019 Nov -
Management of patients with increased risk for familial pancreatic cancer: updated recommendations from the International Cancer of the Pancreas Screening (CAPS) Consortium.
Goggins Michael et al. Gut 2019 Oct -
Universal Testing to Identify Lynch Syndrome Among Women With Newly Diagnosed Endometrial Carcinoma.
Cameron Anna et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2019 Oct -
Five genes as a novel signature for predicting the prognosis of patients with laryngeal cancer.
Zhang Guihai et al. Journal of cellular biochemistry 2019 Oct -
Survey of primary care physicians' views about breast and ovarian cancer screening for true BRCA1/2 non-carriers.
Pelletier S et al. Journal of community genetics 2019 Oct -
Clinical utility of hereditary cancer panel testing: Impact of PALB2, ATM, CHEK2, NBN, BRIP1, RAD51C, and RAD51D results on patient management and adherence to provider recommendations.
Vysotskaia Valentina et al. Cancer 2019 Nov -
Development and validation of a five-lncRNA signature with prognostic value in colon cancer.
Lv Ji et al. Journal of cellular biochemistry 2019 Nov -
Parent of origin differences in psychosocial burden and approach to BRCA risk management.
Hesse-Biber Sharlene et al. The breast journal 2019 Oct -
Clinical Validation and Implementation of a Measurable Residual Disease Assay for NPM1 in Acute Myeloid Leukemia by Error-Corrected Next-Generation Sequencing.
Ritterhouse Lauren L et al. Molecular diagnosis & therapy 2019 Oct -
Prevalence of Lynch syndrome among patients with upper urinary tract carcinoma in a Japanese hospital-based population.
Ito Tetsuya et al. Japanese journal of clinical oncology 2019 Oct -
Ready, get set, go: Fast preoperative genetic diagnosis is the present future in Lynch syndrome surgical strategy.
Piozzi Guglielmo Niccolò et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2019 Oct -
Comparative Effectiveness of Two Interventions to Increase Colorectal Cancer Screening for those at Increased Risk Based on Family History: Results of a Randomized Trial.
Paskett Electra D et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Oct -
Clinical utility of plasma cell-free DNA in adult patients with newly diagnosed glioblastoma - a pilot prospective study.
Bagley Stephen et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Oct -
Comparison of 21-gene assay and St.Gallen International Expert Consensus in the treatment decision for patients with early invasive breast cancers.
Luo Ming et al. Cancer biology & therapy 2019 Oct 1-5 -
Identification of prognostic biomarker in predicting hepatocarcinogenesis from cirrhotic liver using protein and gene signatures.
Yim Sun Young et al. Experimental and molecular pathology 2019 Oct 104319
Chronic Disease
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Should the GCM2 gene be tested when screening for familial primary hyperparathyroidism ?
Coppin Lucie et al. European journal of endocrinology 2019 Oct -
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux Marguerite et al. Kidney international 2019 Sep -
Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists.
Alcalay Roy N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Nov
Ethics/Policy/Law
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The law of genetic privacy: applications, implications, and limitations.
Clayton Ellen Wright et al. Journal of law and the biosciences 2019 Oct 6(1) 1-36 -
Disclosure of Genetic Results to At-risk Relatives without Consent: Issues for Health Care Professionals in Australia.
McWhirter Rebekah et al. Journal of law and medicine 2019 Oct 27(1) 108-121 -
A framework for tiered informed consent for health genomic research in Africa.
Nembaware Victoria et al. Nature genetics 2019 Oct
Practice
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Validity evaluation of the genetics and genomics in nursing practice survey.
Plavskin Alexandra et al. Nursing open 2019 Oct 6(4) 1404-1413 -
Matching whole genomes to rare genetic disorders: Identification of potential causative variants using phenotype-weighted knowledge in the CAGI SickKids5 clinical genomes challenge.
Pal Lipika R et al. Human mutation 2019 Nov -
An Electronic Strategy for Eliminating Unnecessary Duplicate Genetic Testing.
Riley Jacquelyn D et al. American journal of clinical pathology 2019 Oct
Heart, Lung, Blood and Sleep Diseases
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Paradigm shift for the treatment of hereditary haemophilia: Towards precision medicine.
Spadarella Gaia et al. Blood reviews 2019 Oct 100618 -
Baseline and on-statin treatment lipoprotein(a) levels for predicting cardiovascular events in patients with familial hypercholesterolemia.
Cao Ye-Xuan et al. Atherosclerosis 2019 Oct 29127-33 -
Diagnostic, Prognostic, and Therapeutic Potencies of Circulating miRNAs in Acute Myocardial Infarction.
Mirzavi Farshad et al. Critical reviews in eukaryotic gene expression 2019 29(4) 333-342 -
Clinical and genetic differences between heterozygous familial hypercholesterolemia patients with and without type 2 diabetes.
Climent Elisenda et al. Revista espanola de cardiologia (English ed.) 2019 Oct -
Genetic risk scores to predict the prognosis of chronic heart failure patients in Chinese Han.
Li Shiyang et al. Journal of cellular and molecular medicine 2019 Oct -
Cystic Fibrosis Diagnosis in Newborns, Children, and Adults.
Castellani Carlo et al. Seminars in respiratory and critical care medicine 2019 Nov -
Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices.
Neuner Joan et al. Journal of general internal medicine 2019 Oct -
The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects.
Blaauwgeers Maaike W et al. American journal of hematology 2019 Oct -
International consensus on the use of genetics in the management of hereditary angioedema.
Germenis Anastasios E et al. The journal of allergy and clinical immunology. In practice 2019 Oct
Newborn Screening
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Newborn Screening for Inherited Metabolic Disorders: Early Identification and Long-Term Care for Patients in the Plain Community, Wisconsin, 2011-2017.
Held Patrice K et al. Public health reports (Washington, D.C. : 1974) 134(2_suppl) 58S-63S -
Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years.
Skov Marianne et al. Pediatric pulmonology 2019 Nov -
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain).
Martin-Nalda Andrea et al. Molecular genetics & genomic medicine 2019 Oct e1016
Pharmacogenomics
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Pharmacogenomics and OUD: Clinical Decision Support in an African American Cohort.
Ettienne Earl B et al. Journal of the National Medical Association 2019 Oct
Reproductive Health
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Expanded carrier screening: counseling and considerations.
Sparks Teresa N et al. Human genetics 2019 Nov -
Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies.
Chen Min et al. Prenatal diagnosis 2019 Oct -
Psychological and social consequences of non-invasive prenatal testing (NIPT): a scoping review.
Labonté Valérie et al. BMC pregnancy and childbirth 2019 Oct 19(1) 385 -
Impact of Early Diagnosis and Non-Invasive Prenatal Testing (NIPT): Knowledge, Attitudes, and Experiences of Parents of Children with Sex Chromosome Aneuploidies (SCAs).
Samango-Sprouse Carole A et al. Prenatal diagnosis 2019 Oct