Published on 03/14/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
Paediatricians underuse recommended genetic tests in children with global developmental delay.
Tremblay Isabelle et al. Paediatrics & child health 2018 Dec 23(8) e156-e162
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children.
French Courtney E et al. Intensive care medicine 2019 Mar
Carrier frequency estimation of Zellweger spectrum disorder using ExAC database and bioinformatics tools.
Vasiljevic Eva et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Mar
Nature versus nurture in autism
RM Jones, Science Trans Med, March 2019
Hypomethylated gene NRP1 is co-expressed with PDGFRB and associated with poor overall survival in gastric cancer patients.
Wang Guanghui et al. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie 2019 Mar 1111334-1341
Impact of molecular testing in clinical practice in gynecologic cancers.
Huang Marilyn et al. Cancer medicine 2019 Mar
Results of the extended analysis for cancer treatment (EXACT) trial: a prospective translational study evaluating individualized treatment regimens in oncology.
Prager Gerald W et al. Oncotarget 2019 Jan 10(9) 942-952
Partnering With Mommy Bloggers to Disseminate Breast Cancer Risk Information: Social Media Intervention.
Wright Kevin et al. Journal of medical Internet research 2019 Mar 21(3) e12441
Factors Determining Anthracycline Use in Hormone Receptor Positive, Early-Stage Breast Cancer.
Henderson Jordan et al. Clinical breast cancer 2019 Feb
Identification and clinical validation of a multigene assay that interrogates the biology of cancer stem cells and predicts metastasis in breast cancer: A retrospective consecutive study.
Pece Salvatore et al. EBioMedicine 2019 Feb
Selected medical interventions in women with a deleterious BRCA mutation: a population-based study in British Columbia.
Hanley G E et al. Current oncology (Toronto, Ont.) 2019 Feb 26(1) e17-e23
Metastatic risk stratification of clear cell renal cell carcinoma patients based on genomic aberrations.
Grimm Julia et al. Genes, chromosomes & cancer 2019 Mar
Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology.
Cohen Stacey A et al. Annual review of genomics and human genetics 2019 Mar
A clinical trial of somatic and germline analyses for healthy longevity in a postoperative cancer patient.
Hayashi Naoki et al. Surgery today 2019 Mar
A gene signature associated with prognosis and immune processes in head and neck squamous cell carcinoma.
Bai Shuang et al. Head & neck 2019 Mar
Australasian Gastrointestinal Pathology Society (AGPS) consensus guidelines for universal defective mismatch repair testing in colorectal carcinoma.
Yozu Masato et al. Pathology 2019 Mar
Assessment of miR-98-5p, miR-152-3p, miR-326 and miR-4289 Expression as Biomarker for Prostate Cancer Diagnosis.
Moya Leire et al. International journal of molecular sciences 2019 Mar 20(5)
Concerns and Expectations of Risk-Reducing Surgery in Women with Hereditary Breast and Ovarian Cancer Syndrome.
Modaffari Paola et al. Journal of clinical medicine 2019 Mar 8(3)
Adherence to guidelines for the referral of patients with colorectal cancer and abnormal tumour tissue testing for assessment of Lynch syndrome.
Han Julian et al. ANZ journal of surgery 2019 Mar
Continental drift? Do European clinical genetic testing laboratories have a patent problem?
Liddicoat Johnathon et al. European journal of human genetics : EJHG 2019 Mar
Predicting lithium treatment response in bipolar patients using gender-specific gene expression biomarkers and machine learning.
Eugene Andy R et al. F1000Research 2018 7474
Precision Medicines Impact on the Doctor-Patient Relationship
PS Appelbaum et al, Bill of Health blog, March 8, 2019
Exploring genetic counselors' perceptions of usefulness and intentions to use refined risk models in clinical care based on the Technology Acceptance Model (TAM).
Heinlen Christopher et al. Journal of genetic counseling 2019 Mar
Where culture meets genetics: Exploring Latina immigrants' lay beliefs of disease inheritance.
Fiallos Katie et al. Social science & medicine (1982) 2019 Feb
PhenoPro: a novel toolkit for assisting in the diagnosis of Mendelian disease.
Li Zixiu et al. Bioinformatics (Oxford, England) 2019 Feb
"It would be so much easier": health system-led genetic risk notification-feasibility and acceptability of cascade screening in an integrated system.
Henrikson Nora B et al. Journal of community genetics 2019 Mar
A transformative translational change programme to introduce genomics into healthcare: a complexity and implementation science study protocol.
Taylor Natalie et al. BMJ open 2019 Mar 9(3) e024681
Heart, Lung, Blood and Sleep Diseases
Could a cure be close for sickle cell anemia?
CBS, 60 Minutes, March 8, 2019
Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.
van Lint F H M et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2019 Mar
Large next-generation sequencing gene panels in genetic heart disease: challenges in clinical practice.
Christiaans I et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2019 Mar
Hypertrophic cardiomyopathy: an updated review on diagnosis, prognosis, and treatment.
Makavos George et al. Heart failure reviews 2019 Mar
A multimodal approach to cardiovascular risk stratification in patients with type 2 diabetes incorporating retinal, genomic and clinical features.
Fetit Ahmed E et al. Scientific reports 2019 Mar 9(1) 3591
Value of Measuring Lipoprotein(a) During Cascade Testing for Familial Hypercholesterolemia.
Ellis Katrina L et al. Journal of the American College of Cardiology 2019 Mar 73(9) 1029-1039
An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.
Milko Laura V et al. The Journal of pediatrics 2019 Mar
Parents' experience with positive newborn screening results for cystic fibrosis.
Brockow Inken et al. European journal of pediatrics 2019 Mar
Application of Next-Generation Sequencing Following Tandem Mass Spectrometry to Expand Newborn Screening for Inborn Errors of Metabolism: A Multicenter Study.
Yang Yuqi et al. Frontiers in genetics 2019 1086
Influence of CYP2C19 Metabolizer Status on Escitalopram/Citalopram Tolerability and Response in Youth With Anxiety and Depressive Disorders.
Aldrich Stacey L et al. Frontiers in pharmacology 2019 1099
Verification of pharmacogenomics-based algorithms to predict warfarin maintenance dose using registered data of Japanese patients.
Sasano Maki et al. European journal of clinical pharmacology 2019 Mar
Combined evaluation of genotype and phenotype of thiopurine S-methyltransferase (TPMT) in the clinical management of patients in chronic therapy with azathioprine.
Rucci Francesco et al. Drug metabolism and personalized therapy 2019 Mar
Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions: A Health Technology Assessment.
et al. Ontario health technology assessment series 2019 19(4) 1-166
Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.
Yip Tiffany et al. Journal of genetic counseling 2019 Mar
Perspectives of Pregnant People and Clinicians on Noninvasive Prenatal Testing: A Systematic Review and Qualitative Meta-synthesis.
et al. Ontario health technology assessment series 2019 19(5) 1-38