Published on 02/14/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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The location of exon 4 mutations in RP1 raises challenges for genetic counselling and gene therapy.
Nanda A et al. American journal of ophthalmology 2019 Feb -
Glucose-6-Phosphate dehydrogenase deficiency incidence in a Hispanic population.
Cantú-Reyna C et al. Journal of neonatal-perinatal medicine 2019 Feb -
Health economic modelling in Cystic Fibrosis: A systematic review.
Mohindru Bishal et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2019 Feb -
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker Jeannette C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 159-168 -
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.
Posset Roland et al. Journal of inherited metabolic disease 2019 Jan 42(1) 93-106
Cancer
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Bringing prostate cancer germline genetics into clinical practice.
Das Sanjay et al. The Journal of urology 2019 Feb -
The prognostic value of KRAS and BRAF in stage I-III colorectal cancer. A systematic review.
Gallo Gaetano et al. Annali italiani di chirurgia 2019 Feb 8 -
Defining Prostate Cancer at Favorable Intermediate Risk: the Potential Utility Of Magnetic Resonance Imaging And Genomic Tests.
Falagario Ugo G et al. The Journal of urology 2019 Feb -
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
Taylor Nicholas J et al. Journal of the American Academy of Dermatology 2019 Feb -
Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.
Sunami Kuniko et al. Cancer science 2019 Feb -
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes.
Gallon Richard et al. Human mutation 2019 Feb -
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.
Clarke Elizabeth V et al. Familial cancer 2019 Feb -
Hereditary Pancreatic Cancer: A Retrospective Single-Center Study of 5143 Italian Families with History of BRCA-Related Malignancies.
Toss Angela et al. Cancers 2019 Feb 11(2) -
Evolution of the genomic landscape of circulating tumor DNA (ctDNA) in metastatic prostate cancer over treatment and time.
Hahn Andrew W et al. Cancer treatment and research communications 2019 Feb 19100120 -
High-risk breast cancer surveillance with MRI: 10-year experience from the German consortium for hereditary breast and ovarian cancer.
Bick Ulrich et al. Breast cancer research and treatment 2019 Feb -
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience.
Rabban Joseph T et al. The American journal of surgical pathology 2019 Feb -
Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
So Min-Kyung et al. Breast cancer (Tokyo, Japan) 2019 Feb -
Detection of Pathogenic Germline Variants Among Patients With Advanced Colorectal Cancer Undergoing Tumor Genomic Profiling for Precision Medicine.
You Y Nancy et al. Diseases of the colon and rectum 2019 Feb -
Body image problems in women with and without breast cancer 6-20 years after bilateral risk-reducing surgery - A prospective follow-up study.
Bai Lucy et al. Breast (Edinburgh, Scotland) 2019 Feb 44120-127 -
The effects of genomic germline variant reclassification on clinical cancer care.
Slavin Thomas P et al. Oncotarget 2019 Jan 10(4) 417-423 -
Development of FamilyTalk: an Intervention to Support Communication and Educate Families About Colorectal Cancer Risk.
Bowen Deborah J et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Feb -
Additional loss of MSH2 and MSH6 expression in sporadic deficient mismatch repair colorectal cancer due to MLH1 promoter hypermethylation.
Westwood Alice et al. Journal of clinical pathology 2019 Feb
Chronic Disease
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Predicting Polygenic Risk of Psychiatric Disorders.
Martin Alicia R et al. Biological psychiatry 2018 Dec
Ethics/Policy/Law
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The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood.
van der Hout Sanne et al. Bioethics 2019 Feb
Practice
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Genetic counselors' perceptions of uncertainty in pretest counseling for genomic sequencing: A qualitative study.
Park Jessica et al. Journal of genetic counseling 2019 Feb
Heart, Lung, Blood and Sleep Diseases
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Genetic Diagnostic Testing for Inherited Cardiomyopathies: Considerations for Offering Multi-Gene Tests in a Health Care Setting.
Daoud Hussein et al. The Journal of molecular diagnostics : JMD 2019 Feb -
Adults with familial hypercholesterolaemia have healthier dietary and lifestyle habits compared with their non-affected relatives: the SAFEHEART study.
Arroyo-Olivares Raquel et al. Public health nutrition 2019 Feb 1-11 -
Transfusion service knowledge and immunohaematological practices related to sickle cell disease and thalassemia.
Fasano R M et al. Transfusion medicine (Oxford, England) 2019 Feb -
Precision Medicine for Aortic Stenosis: The Future of Cardiology Today.
Chandrashekhar Y S et al. JACC. Cardiovascular imaging 2019 Feb 12(2) 249-251 -
Impact of Age on the Efficacy and Safety of Alirocumab in Patients with Heterozygous Familial Hypercholesterolemia.
Ginsberg Henry N et al. Cardiovascular drugs and therapy 2019 Feb -
Effect of lipid-lowering treatment in cardiovascular disease prevalence in familial hypercholesterolemia.
Perez-Calahorra Sofía, et al. Atherosclerosis 2019 2 0.
Newborn Screening
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Actions in Support of Newborn Screening for Critical Congenital Heart Disease - United States, 2011-2018.
Glidewell Jill et al. MMWR. Morbidity and mortality weekly report 2019 Feb 68(5) 107-111 -
Newborn screening and changing face of inborn errors of metabolism in the United States.
Kanungo Shibani et al. Annals of translational medicine 2018 Dec 6(24) 468 -
Inborn errors of metabolism in the 21 st century: past to present.
Arnold Georgianne L et al. Annals of translational medicine 2018 Dec 6(24) 467 -
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller Rebecca et al. Journal of inherited metabolic disease 2019 Jan 42(1) 128-139 -
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 140-146 -
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova Alina et al. Journal of inherited metabolic disease 2019 Jan 42(1) 107-116 -
The decision to discontinue screening for carnitine uptake disorder in New Zealand.
Wilson Callum et al. Journal of inherited metabolic disease 2019 Jan 42(1) 86-92
Pharmacogenomics
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Association Between ABCB1 Polymorphisms and Outcomes of Clopidogrel Treatment in Patients With Minor Stroke or Transient Ischemic Attack: Secondary Analysis of a Randomized Clinical Trial.
Pan Yuesong, et al. JAMA neurology 2019 2 0. -
One Step Closer to Precision Medicine Strategies Based on Genetic Information: ABCB1 Polymorphisms in the CHANCE Trial.
George Benjamin P, et al. JAMA neurology 2019 2 0.
Reproductive Health
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Impact of in vitro fertilization-preimplantation genetic testing (IVF-PGT) funding policy on clinical outcome: An issue that stems beyond effectiveness of treatment.
Shao Yi-Hong et al. European journal of obstetrics, gynecology, and reproductive biology 2019 Feb 2351-5 -
Noninvasive Prenatal Whole Genome Sequencing: Pregnant Women's Views and Preferences.
Sullivan Haley K et al. Obstetrics and gynecology 2019 Feb -
Comparison of two protocols of blastocyst biopsy submitted to preimplantation genetic testing for aneuploidies: a randomized controlled trial.
Zhao Haibin et al. Archives of gynecology and obstetrics 2019 Feb -
The utilization of prenatal microarray: A survey of current genetic counseling practices and barriers.
Durham Leslie et al. Prenatal diagnosis 2019 Feb -
The uptake of pan-ethnic expanded carrier screening is higher when offered during preconception or early prenatal genetic counseling.
Larsen Dana et al. Prenatal diagnosis 2019 Feb -
Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.
Beauchamp Kyle A, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 2 0. -
Canadian Pregnant Women's Preferences Regarding NIPT for Down Syndrome: The Information They Want, How They Want to Get It, and With Whom They Want to Discuss It.
Laberge Anne-Marie et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2019 Feb -
'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing.
Bowman-Smart Hilary et al. The Australian & New Zealand journal of obstetrics & gynaecology 2019 Feb