Published on 01/10/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Diagnostic yield of genetic tests in epilepsy: A meta-analysis and cost-effectiveness study.
Sánchez Fernández Iván et al. Neurology 2019 Jan -
Identifying facial phenotypes of genetic disorders using deep learning.
Gurovich Yaron, et al. Nature medicine 2019 1 0. (1) 60-64 -
Challenging the Current Recommendations for Carrier Testing in Children.
VanNoy Grace E et al. Pediatrics 2019 Jan 143(Suppl 1) S27-S32 -
Genetic Testing Practices of Genetic Counselors, Geneticists, and Pediatric Neurologists With Regard to Childhood-Onset Neurogenetic Conditions.
Wofford Sara et al. Journal of child neurology 2019 Jan 883073818821036 -
Physician Communication of Genomic Results in a Diagnostic Odyssey Case Series.
Rubanovich Caryn Kseniya et al. Pediatrics 2019 Jan 143(Suppl 1) S44-S53
Cancer
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Next-generation sequencing in precision oncology: Patient understanding and expectations.
Roberts J Scott et al. Cancer medicine 2019 Jan -
Healthy Lifestyle Factors Associated With Lower Risk of Colorectal Cancer Irrespective of Genetic Risk.
Carr Prudence R et al. Gastroenterology 2018 155(6) 1805-1815.e5 -
Benefits of introduction of Oncotype DX ® testing.
Green N et al. Annals of the Royal College of Surgeons of England 2019 Jan 101(1) 55-59 -
Next Generation-Targeted Amplicon Sequencing (NG-TAS): an optimised protocol and computational pipeline for cost-effective profiling of circulating tumour DNA.
Gao Meiling, et al. Genome medicine 2019 0 0. (1) 1 -
Functional Repair Assay for the Diagnosis of Constitutional Mismatch Repair Deficiency From Non-Neoplastic Tissue.
Shuen Andrew Y et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Jan JCO1800474 -
A 17-gene Panel for Prediction of Adverse Prostate Cancer Pathologic Features: Prospective Clinical Validation and Utility.
Eggener Scott et al. Urology 2019 Jan -
Cancer susceptibility gene mutations in type I and II endometrial cancer.
Long Beverly et al. Gynecologic oncology 2019 Jan 152(1) 20-25 -
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
Bakhuizen J J et al. Familial cancer 2019 Jan -
Multi-gene panel testing confirms phenotypic variability in MUTYH-Associated Polyposis.
Sutcliffe Erin G et al. Familial cancer 2019 Jan -
Genetic epidemiology of ovarian cancer in the 22 Arab countries: A systematic review.
Younes Nadin et al. Gene 2019 Feb 684154-164 -
Association of JAK2-V617F Mutations Detected by Solid Tumor Sequencing With Coexistent Myeloproliferative Neoplasms.
Riedlinger Gregory, et al. JAMA oncology 2019 1 0. -
Identifying breast cancer susceptibility genes - a review of the genetic background in familial breast cancer.
Wendt Camilla et al. Acta oncologica (Stockholm, Sweden) 2019 Jan 1-12 -
Draft Research Plan for Colorectal Cancer: Screening
U.S. Preventive Services Task Force is inviting the public for comments until January 30, 2019 -
Women with breast and uterine cancer are more likely to harbor germline mutations than women with breast or uterine cancer alone: A case for expanded gene testing.
Fulk Kelly et al. Gynecologic oncology 2019 Jan
Chronic Disease
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Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer's disease risk.
Jansen Iris E, et al. Nature genetics 2019 0 0. (3) 404-413 -
Cardiometabolic polygenic risk scores and osteoarthritis outcomes: a Mendelian randomization study from the MalmÓ§ Diet and Cancer Study and the UK Biobank.
Hindy George et al. Arthritis & rheumatology (Hoboken, N.J.) 2019 Jan -
A Polygenic Risk Score Derived From Episodic Memory Weighted Genetic Variants Is Associated With Cognitive Decline in Preclinical Alzheimer's Disease.
Porter Tenielle et al. Frontiers in aging neuroscience 2018 10423
Ethics/Policy/Law
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Return of individual genomic research results: are laws and policies keeping step?
Thorogood Adrian, et al. European journal of human genetics : EJHG 2019 4 0. (4) 535-546 -
Integrating Genomics into Psychiatric Practice: Ethical and Legal Challenges for Clinicians.
Ward Eric T et al. Harvard review of psychiatry 27(1) 53-64 -
Prohibiting Genetic Discrimination to Promote Science, Health, and Fairness.
et al. American journal of human genetics 2019 Jan 104(1) 6-7
Practice
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A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases.
Oliveri Serena et al. Frontiers in genetics 2018 9624 -
Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing.
Bris Céline et al. Frontiers in genetics 2018 9632 -
Hidden 'risk' in polygenic scores: clinical use today could exacerbate health disparities
AR Martin et al. BioRXIV, January 23, 019 -
Factors influencing use of telegenetic counseling: perceptions of health care professionals in Sweden.
Pestoff Rebecka et al. Journal of community genetics 2019 Jan -
Effect of Genetically Low 25-Hydroxyvitamin D on Mortality Risk: Mendelian Randomization Analysis in 3 Large European Cohorts.
Aspelund Thor et al. Nutrients 2019 Jan 11(1) -
Designing and Implementing NGS Tests for Inherited Disorders - a Practical Framework with Step-by-Step Guidance for Clinical Laboratories.
Santani Avni et al. The Journal of molecular diagnostics : JMD 2018 Dec -
VA Primary Care and Mental Health Providers' Comfort with Genetic Testing: Survey Results from the PRIME Care Study.
Hull Leland E et al. Journal of general internal medicine 2019 Jan
Heart, Lung, Blood and Sleep Diseases
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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program
Y San et al. Circulation Genomics Prec Medicine, December 2018 -
Early diagnosis and treatment of familial hypercholesterolemia.
Elkins J Casey et al. The Nurse practitioner 2019 Jan -
Familial hypercholesterolemia and young patients' thoughts on own condition and treatment.
Urke Eli Bjørnøy et al. Patient education and counseling 2018 Dec -
The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world.
Pierce Glenn F et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan -
Prognostic Impact of Genetic Polymorphism in Mineralocorticoid Receptor and Comorbidity With Hypertension in Androgen-Deprivation Therapy.
Shiota Masaki et al. Frontiers in oncology 2018 8635 -
Cost Efficacy of ?-Galactosidase A Enzyme Screening for Fabry Disease.
Newman Darrell B et al. Mayo Clinic proceedings 2019 Jan 94(1) 84-88
Newborn Screening
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Early Identification of Fragile X Syndrome through Expanded Newborn Screening.
Okoniewski Katherine C et al. Brain sciences 2019 Jan 9(1) -
Ethical and Psychosocial Issues in Whole Genome Sequencing (WGS) for Newborns.
Lantos John D et al. Pediatrics 2019 Jan 143(Suppl 1) S1-S5 -
Genotype/phenotype correlations in 538 congenital adrenal hyperplasia patients from Germany and Austria: discordances in milder genotypes and in screened versus pre-screening patients.
Riedl Stefan et al. Endocrine connections 2019 Jan -
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy Ozge, et al. American journal of human genetics 2019 1 0. (1) 76-93 -
Perceived Benefits, Risks, and Utility of Newborn Genomic Sequencing in the BabySeq Project.
Pereira Stacey et al. Pediatrics 2019 Jan 143(Suppl 1) S6-S13 -
Follow-up of fatty acid β-oxidation disorders in expanded newborn screening era.
Janeiro Patrícia et al. European journal of pediatrics 2019 Jan -
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism.
Wang Wenjie et al. BMC medical genetics 2019 Jan 20(1) 3 -
Comparison of two sweat test systems for the diagnosis of cystic fibrosis in newborns.
Rueegg Corina S et al. Pediatric pulmonology 2019 Jan
Pharmacogenomics
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Impact of pharmacogenomics on clinical outcomes in major depressive disorder in the GUIDED trial: A large, patient- and rater-blinded, randomized, controlled study.
Greden John F, et al. Journal of psychiatric research 2019 1 0. 59-67 -
Mutations in CYP2C9 and/or VKORC1 haplotype are associated with higher bleeding complications in patients with Budd-Chiari syndrome on warfarin.
Shukla Akash et al. Hepatology international 2019 Jan
Reproductive Health
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Preimplantation genetic testing for monogenic diseases: a Brazilian IVF centre experience.
Zanetti Bianca Ferrarini et al. JBRA assisted reproduction 2019 Jan -
Choosing an expanded carrier screening panel: comparing two panels at a single fertility centre.
Bristow Sara L et al. Reproductive biomedicine online 2018 Dec