Published on 03/07/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Genotype-phenotype correlations and BH 4 estimated responsiveness in patients with phenylketonuria from Rio de Janeiro, Southeast Brazil.
Vieira Neto Eduardo et al. Molecular genetics & genomic medicine 2019 Mar e610 -
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira Célia et al. Mitochondrion 2019 Mar -
Clinical and genetic characteristics of female dystrophinopathy carriers.
Zhong Jingzi et al. Molecular medicine reports 2019 Feb -
Best Practices for Obtaining Genomic Consent in Pediatric Traumatic Brain Injury Research.
Schnur Kaylee C et al. Nursing research 68(2) E11-E20 -
Analysis of Inherited Optic Neuropathies.
Lazdinyte Simona et al. Klinische Monatsblatter fur Augenheilkunde 2019 Mar -
The current landscape of European registries for rare endocrine conditions.
Ali S R et al. European journal of endocrinology 2019 Jan 180(1) 89-98
Cancer
-
Psychosocial, attitudinal, and demographic correlates of cancer-related germline genetic testing in the 2017 Health Information National Trends Survey.
Roberts Megan C et al. Journal of community genetics 2019 Feb -
Correlation of a Commercial Genomic Risk Classifier with Histologic Patterns in Prostate Cancer.
Greenland Nancy Y et al. The Journal of urology 2019 Feb 101097JU0000000000000175 -
Clinical Use of Epidermal Growth Factor Receptor Testing in Patients With Advanced Lung Cancer by Physicians: Survey of US and International Patterns.
Peters Matthew et al. Journal of global oncology 2019 Feb 51-7 -
Assessment of Blood Tumor Mutational Burden as a Potential Biomarker for Immunotherapy in Patients With Non-Small Cell Lung Cancer With Use of a Next-Generation Sequencing Cancer Gene Panel.
Wang Zhijie et al. JAMA oncology 2019 Feb -
RILA blood biomarker as a predictor of radiation-induced sarcoma in a matched cohort study.
Mirjolet C et al. EBioMedicine 2019 Feb -
Exome sequencing in 51 early onset non-familial CRC cases.
Thutkawkorapin Jessada et al. Molecular genetics & genomic medicine 2019 Feb e605 -
The apparent genetic anticipation in PMS2-associated Lynch syndrome families is explained by birth cohort effect.
Ten Broeke Sanne W et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Mar -
Clinical significance of blood-based miRNAs as diagnostic and prognostic nucleic acid markers in breast cancer: Comparative to conventional tumor markers.
Swellam Menha et al. Journal of cellular biochemistry 2019 Mar -
Mutational profile of Brazilian lung adenocarcinoma unveils association of EGFR mutations with high Asian ancestry and independent prognostic role of KRAS mutations.
Leal Letícia Ferro et al. Scientific reports 2019 Mar 9(1) 3209 -
Genetic counseling, genetic testing, and risk perceptions for breast and colorectal cancer: Results from the 2015 National Health Interview Survey.
Turbitt Erin et al. Preventive medicine 2019 Feb 12312-19 -
A five-gene signature predicts overall survival of patients with papillary renal cell carcinoma.
Gao Ze et al. PloS one 2019 14(3) e0211491 -
Development and Validation of a Prognostic Signature for Malignant Pleural Mesothelioma.
Zhou Jian-Guo et al. Frontiers in oncology 2019 978 -
Integrated routine workflow using next-generation sequencing and a fully-automated platform for the detection of KRAS, NRAS and BRAF mutations in formalin-fixed paraffin embedded samples with poor DNA quality in patients with colorectal carcinoma.
Franczak Claire et al. PloS one 2019 14(2) e0212801 -
Appropriate Management of Attenuated Familial Adenomatous Polyposis: Report of a Case and Review of the Literature.
Sokic-Milutinovic Aleksandra et al. Digestive diseases (Basel, Switzerland) 2019 Mar 1-6 -
Potential value of circulatory microRNA122 gene expression as a prognostic and metastatic prediction marker for breast cancer.
Saleh Amany A et al. Molecular biology reports 2019 Mar -
Referrals to a Phase I Clinic and Trial Enrollment in the Molecular Screening Era.
Tan Tira et al. The oncologist 2019 Mar -
Prognostic association of PTGS2 (COX-2) over-expression according to BRAF mutation status in colorectal cancer: Results from two prospective cohorts and CALGB 89803 (Alliance) trial.
Kosumi Keisuke et al. European journal of cancer (Oxford, England : 1990) 2019 Feb 11182-93 -
Developing a Prognostic Gene Panel of Epithelial Ovarian Cancer Patients by a Machine Learning Model.
Lu Tzu-Pin et al. Cancers 2019 Feb 11(2) -
Automatic Genetic Risk Assessment Calculation Using Breast Cancer Family History Data from the EHR compared to Self-Report.
Sin Margaret et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2018 2018970-978
Ethics/Policy/Law
-
The Future of Gene Editing - Toward Scientific and Social Consensus.
Rosenbaum Lisa, et al. The New England journal of medicine 2019 3 0. (10) 971-975 -
How Do Patents Affect Follow-On Innovation? Evidence from the Human Genome.
Sampat Bhaven et al. The American economic review 2019 109(1) 203-36
Practice
-
A Genetic Investigation of the Well-Being Spectrum.
Baselmans B M L et al. Behavior genetics 2019 Feb -
Clinical models of telehealth in genetics: A regional telegenetics landscape.
Terry Alissa B et al. Journal of genetic counseling 2019 Mar -
Current knowledge and interest of French Canadians regarding nutrigenetics.
Vallée Marcotte Bastien et al. Genes & nutrition 2019 145 -
Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.
Rego Shannon et al. Journal of genetic counseling 2019 Mar -
A New Class of Medicines through DNA Editing.
Porteus Matthew H, et al. The New England journal of medicine 2019 0 0. (10) 947-959
Heart, Lung, Blood and Sleep Diseases
-
Genetic interpretation and clinical translation of minor genes related to Brugada syndrome.
Campuzano Oscar et al. Human mutation 2019 Feb -
Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China.
Zhang Haoqing et al. Journal of clinical laboratory analysis 2019 Feb e22845 -
Clinical profile and quality of life of Puerto Ricans with hereditary angioedema.
Arce-Ayala Yanira M et al. Allergy and asthma proceedings 2019 Mar 40(2) 103-110 -
Diagnostic Value of Non-Invasive Prenatal Screening of Β-Thalassemia by Cell Free Fetal DNA and Fetal NRBC.
Shafei Nadia et al. Current molecular medicine 2019 Feb -
Genetic risk assessment of thrombophilia in patients with adverse obstetric outcomes.
Fernández Arias M et al. PloS one 2019 14(2) e0211114 -
Evaluation of an immunochromatographic test for alpha thalassaemia screening in a multi-ethnic population.
Nelson Anna Clare et al. International journal of laboratory hematology 2019 Mar -
EVALUATION OF TREATMENT EFFICACY IN PATIENTS WITH NON-ALCOHOLIC-STEATOHEPATITIS AND HETEROZYGOTIC FAMILIAL HYPERCHOLESTEROLEMIA.
Yakimenko ? et al. Georgian medical news 2019 Jan (286) 67-72 -
Generality of Genomic Findings on Blood Pressure Traits and Its Usefulness in Precision Medicine in Diverse Populations: A Systematic Review.
Kolifarhood Goodarz et al. Clinical genetics 2019 Feb
Newborn Screening
-
Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.
Liu Yanhui et al. International journal of pediatric otorhinolaryngology 2019 Feb 11782-87 -
Large Scale Next Generation Sequencing and Newborn Screening: Are We Ready?
Phornphutkul Chanika et al. The Journal of pediatrics 2019 Feb -
The Current State of Newborn Screening in the United States.
Fabie Noelle Andrea V et al. Pediatric clinics of North America 2019 Apr 66(2) 369-386 -
A pilot study on newborn screening for congenital adrenal hyperplasia in Beijing.
Gong Li-Fei et al. Journal of pediatric endocrinology & metabolism : JPEM 2019 Feb -
Newborn screening for haemophilia: The views of families and adults living with haemophilia in the UK.
Boardman Felicity K et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Feb
Pharmacogenomics
-
Pharmacogenomic and Pharmacotranscriptomic Profiling of Childhood Acute Lymphoblastic Leukemia: Paving the Way to Personalized Treatment.
Pavlovic Sonja et al. Genes 2019 Mar 10(3) -
CYP2D6-inhibiting medication use and inherited CYP2D6 variation in relation to adverse breast cancer outcomes after tamoxifen therapy.
Mayer Sophie E et al. Cancer causes & control : CCC 2019 Jan 30(1) 103-112
Reproductive Health
-
Prenatal Genetic Testing Options.
Jelin Angie C et al. Pediatric clinics of North America 2019 Apr 66(2) 281-293 -
A data-driven evaluation of the size and content of expanded carrier screening panels.
Ben-Shachar Rotem et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Feb -
Challenges of infertility genetic counseling: Impact on counselors' personal and professional lives.
Liker Karina et al. Journal of genetic counseling 2019 Mar -
Preimplantation genetic testing for aneuploidy (PGT-A): The biology, the technology and the clinical outcomes.
Homer Hayden Anthony et al. The Australian & New Zealand journal of obstetrics & gynaecology 2019 Feb -
Effects of paternal age on human embryo development in in vitro fertilization with preimplantation genetic screening.
Kim Min Kyoung et al. Clinical and experimental reproductive medicine 2019 Mar 46(1) 22-29 -
Premarital Screening and Genetic Counseling Program: Studies from an Endogamous Population.
Bener Abdulbari et al. International journal of applied & basic medical research 9(1) 20-26