Published on 04/18/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges.
Clowes Candadai Sarah V et al. Journal of genetic counseling 2019 Apr 28(2) 283-291 -
Genetic testing in patients with retinitis pigmentosa: features of unsolved cases.
Birtel Johannes et al. Clinical & experimental ophthalmology 2019 Apr -
Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders.
Málaga Diana Rojas et al. Genetics and molecular biology 2019 Apr -
Genetic analysis of patients with fructose-1,6-bisphosphatase deficiency.
Pinheiro Franciele Cabral et al. Gene 2019 May 699102-109 -
Clinical utility in infants with suspected monogenic conditions through next-generation sequencing.
Hong Sha et al. Molecular genetics & genomic medicine 2019 Apr e684 -
What do parents expect from a genetic diagnosis of their child with intellectual disability?
Dikow Nicola et al. Journal of applied research in intellectual disabilities : JARID 2019 Apr -
Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.
Balciuniene Jorune et al. JAMA network open 2019 Apr 2(4) e192129 -
Genetic counseling considerations with rapid genome-wide sequencing in a neonatal intensive care unit.
Smith Emma E et al. Journal of genetic counseling 2019 Apr 28(2) 263-272
Cancer
-
Endometrial Carcinoma Diagnosis: Use of FIGO Grading and Genomic Subcategories in Clinical Practice: Recommendations of the International Society of Gynecological Pathologists.
Soslow Robert A et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2019 Jan 38 Suppl 1S64-S74 -
Prognostic impact of genetic variants of CYP19A1 and UGT2B17 in a randomized trial for endocrine-responsive postmenopausal breast cancer.
Johansson Harriet et al. The pharmacogenomics journal 2019 Apr -
Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack".
Rasmussen Victoria et al. Journal of genetic counseling 2019 Apr -
Performance Comparison of Different Analytic Methods in Proficiency Testing for Mutations in the BRAF, EGFR, and KRAS Genes: A Study of the College of American Pathologists Molecular Oncology Committee.
Moncur Joel T et al. Archives of pathology & laboratory medicine 2019 Apr -
Assessing Hereditary Colorectal Cancer Referral Patterns to a Tertiary Care Center: A Novel Approach Using Geographic Information System Mapping.
Ford Molly M et al. Diseases of the colon and rectum 2019 Apr -
Five screening-detected breast cancer cases in initially disease-free BRCA1 or BRCA2 mutation carriers.
Shimada Satoko et al. Breast cancer (Tokyo, Japan) 2019 Apr -
Hereditary Breast Cancer Risk Analysis in Uninsured Mexican-Origin Women Living in the U.S.-Mexico Border Region.
Salinas Jennifer J et al. Hispanic health care international : the official journal of the National Association of Hispanic Nurses 2019 Apr 1540415319837850 -
Multigene panel testing in unselected Israeli breast cancer cases: mutational spectrum and use of BRCA1/2 mutation prediction algorithms.
Bernstein-Molho Rinat et al. Breast cancer research and treatment 2019 Apr -
Family communication and patient distress after germline genetic testing in individuals with pancreatic ductal adenocarcinoma.
Peters Mary Linton B et al. Cancer 2019 Apr -
Effect of 21-gene recurrence score in decision-making for surgery in early stage breast cancer.
Wu San-Gang et al. OncoTargets and therapy 2019 122071-2078 -
Simultaneous Interrogation of Cancer Omics to Identify Subtypes With Significant Clinical Differences.
Xu Aodan et al. Frontiers in genetics 2019 10236 -
Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.
Suarez-Kelly Lorena P et al. Hereditary cancer in clinical practice 2019 1712 -
Risk Prediction Tool for Aggressive Tumors in Clinical T1 Stage Clear Cell Renal Cell Carcinoma Using Molecular Biomarkers.
Park Jee Soo et al. Computational and structural biotechnology journal 2019 17371-377 -
International trends in the uptake of cancer risk reduction strategies in women with a BRCA1 or BRCA2 mutation.
Metcalfe Kelly et al. British journal of cancer 2019 Apr -
A systematic review of international guidelines and recommendations for the genetic screening, diagnosis, genetic counseling, and treatment of BRCA -mutated breast cancer.
Forbes Carol et al. Cancer management and research 2019 112321-2337 -
Comprehensive Cancer Panel Sequencing Defines Genetic Diversity and Changes in the Mutational Characteristics of Pancreatic Cancer Patients Receiving Neoadjuvant Treatment.
Yoon Kyong-Ah et al. Gut and liver 2019 Feb -
Analysis of the CDKN2A gene in FAMMM Syndrome families reveals early age of onset for additional syndromic cancers.
Middlebrooks Candace D et al. Cancer research 2019 Apr -
Genetic Testing and Results in a Population-Based Cohort of Breast Cancer Patients and Ovarian Cancer Patients.
Kurian Allison W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Apr JCO1801854 -
Relationship of pathological features and a 21 gene expression assay in younger versus older women with node-negative endocrine receptor-positive breast cancer.
Mutonga Martin et al. Breast cancer research and treatment 2019 Apr -
Factors Influencing Not Perceiving Family Health History Assessments as Important: Opportunities to Improve Dissemination of Evidence-Based Population Screening for Cancer.
Allen Caitlin G et al. Public health genomics 2019 Apr 1-10 -
Racial/Ethnic Disparities in BRCA Counseling and Testing: a Narrative Review.
Williams Christina D et al. Journal of racial and ethnic health disparities 2019 Apr
Chronic Disease
-
Investigator Assessment of the Utility of the TruGraf Molecular Diagnostic Test in Clinical Practice.
First M R et al. Transplantation proceedings 2019 Apr 51(3) 729-733 -
Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis.
Dekker Annelot M et al. Scientific reports 2019 Apr 9(1) 5931 -
APOL1 Genetic Testing in Living Kidney Transplant Donors.
Mohan Sumit et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2019 Apr
Practice
-
The Healthcare Systems Research Network (HCSRN) as an Environment for Dissemination and Implementation Research: A Case Study of Developing a Multi-Site Research Study in Precision Medicine.
Rahm Alanna Kulchak et al. EGEMS (Washington, DC) 2019 Apr 7(1) 16 -
The Feelings About genomiC Testing Results (FACToR) Questionnaire: Development and Preliminary Validation.
Li Meng et al. Journal of genetic counseling 2019 Apr 28(2) 477-490 -
Lay Perspectives on Receiving Different Types of Genomic Secondary Findings: a Qualitative Vignette Study.
Vornanen M et al. Journal of genetic counseling 2019 Apr 28(2) 343-354 -
Interpretations of the Term "Actionable" when Discussing Genetic Test Results: What you Mean Is Not What I Heard.
Gornick Michele C et al. Journal of genetic counseling 2019 Apr 28(2) 334-342 -
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing.
Zastrow Diane B et al. Journal of genetic counseling 2019 Apr 28(2) 213-228
Heart, Lung, Blood and Sleep Diseases
-
Incidentally identified genetic variants in arrhythmogenic right ventricular cardiomyopathy-associated genes among children undergoing exome sequencing reflect healthy population variation.
Headrick Andrew T et al. Molecular genetics & genomic medicine 2019 Apr e593 -
Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.
McVeigh Terri Patricia et al. European journal of human genetics : EJHG 2019 Apr -
Using NGS-methylation profiling to understand the molecular pathogenesis of young MI patients who have subsequent cardiac events.
Thunders Michelle et al. Epigenetics 2019 Apr -
Usefulness of Genetic Testing in Sudden Cardiac Arrest Survivors With or Without Previous Clinical Evidence of Heart Disease.
Asatryan Babken et al. The American journal of cardiology 2019 Mar -
Precision health: treating the individual patient with chronic obstructive pulmonary disease.
Obeidat Ma'en et al. The Medical journal of Australia 2019 Apr -
Stroke genetics: discovery, biology, and clinical applications.
Dichgans Martin et al. The Lancet. Neurology 2019 Apr
Pharmacogenomics
-
Perplexed by PGx? Exploring the impact of pharmacogenomic results on medical management, disclosures and patient behavior.
Waldman Larissa et al. Pharmacogenomics 2019 Apr -
Population Pharmacogenomics for Precision Public Health in Colombia.
Nagar Shashwat Deepali et al. Frontiers in genetics 2019 10241 -
A Screening Test for HLA-B in a Large United States Patient Cohort Identifies Broader Risk of Carbamazepine-Induced Adverse Events.
Fang Hua et al. Frontiers in pharmacology 2019 10149 -
Implementing pharmacogenetic testing in rural primary care practices: a pilot feasibility study.
Dressler Lynn G et al. Pharmacogenomics 2019 Apr -
Implementation of genotype-guided dosing of warfarin with point-of-care genetic testing in three UK clinics: a matched cohort study.
Jorgensen Andrea L et al. BMC medicine 2019 Apr 17(1) 76
Reproductive Health
-
The significance of trisomy 7 mosaicism in noninvasive prenatal screening.
Qi Yiming et al. Human genomics 2019 Apr 13(1) 18 -
An enrichment method to increase cell-free fetal DNA fraction and significantly reduce false negatives and test failures for non-invasive prenatal screening: a feasibility study.
Hu Ping et al. Journal of translational medicine 2019 Apr 17(1) 124 -
User Acceptability of Whole Exome Reproductive Carrier Testing for Consanguineous Couples in Australia.
Josephi-Taylor Sarah et al. Journal of genetic counseling 2019 Apr 28(2) 240-250