Published on 02/06/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study.
Lewis Celine et al. European journal of human genetics : EJHG 2020 Jan
MammaPrint guides treatment decisions in breast Cancer: results of the IMPACt trial.
Soliman Hatem et al. BMC cancer 2020 Jan 20(1) 81
Prognostic DNA methylation markers for hormone receptor breast cancer: a systematic review.
de Ruijter Tim C et al. Breast cancer research : BCR 2020 Jan 22(1) 13
Psychosocial impact of prognostic genetic testing in uveal melanoma patients: a controlled prospective clinical observational study.
Lieb Marietta et al. BMC psychology 2020 Jan 8(1) 8
Cost-effectiveness of long-term clinical management of BRCA pathogenic variant carriers.
Petelin Lara et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jan
Blood-based circulating tumor DNA mutations as a diagnostic and prognostic biomarker for lung cancer.
Leung Maria et al. Cancer 2020 Jan
Multigene panel testing results in patients with multiple breast cancer primaries.
Corredor Jessica et al. The breast journal 2020 Jan
Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.
Brand Randall E et al. Familial cancer 2020 Jan
Molecular profiling of gynecologic cancers for treatment and management of disease - demonstrating clinical significance using the AMP/ASCO/CAP guidelines for interpretation and reporting of somatic variants.
Nie Qian et al. Cancer genetics 2020 Jan
Precision oncotherapy based on liquid biopsies in multidisciplinary treatment of unresectable recurrent rectal cancer: a retrospective cohort study.
Guadagni Stefano et al. Journal of cancer research and clinical oncology 2020 Jan 146(1) 205-219
Why genomics researchers are sometimes morally required to hunt for secondary findings.
Koplin Julian J et al. BMC medical ethics 2020 Jan 21(1) 11
Ethical Dilemmas Linked to Fragile X Testing of Minors-a Preliminary Survey Among Professionals.
Gabis Lidia V et al. Journal of molecular neuroscience : MN 2020 Jan
Relationships of health information orientation and cancer history on preferences for consent and control over biospecimens in a biobank: A race-stratified analysis.
Hong Soo Jung et al. Journal of genetic counseling 2020 Jan
EBCOG position statement: ethics of stem cell research.
Veiga Anna et al. European journal of obstetrics, gynecology, and reproductive biology 2020 Jan
Do genetic ancestry tests increase racial essentialism? Findings from a randomized controlled trial.
Roth Wendy D et al. PloS one 2020 15(1) e0227399
Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results.
Cho Ahra et al. Orphanet journal of rare diseases 2020 Jan 15(1) 32
Genomics Education in the Era of Personal Genomics: Academic, Professional, and Public Considerations.
Whitley Kiara V et al. International journal of molecular sciences 2020 Jan 21(3)
Heart, Lung, Blood and Sleep Diseases
Genetics and other omics in pediatric pulmonary arterial hypertension.
Welch C L et al. Chest 2020 Jan
Efficacy of therapeutic lifestyle changes on lipid profiles assessed by NMR in children with familial and non-familial hypercholesterolemia.
Rodríguez-Borjabad Cèlia et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2020 Jan
Opportunities for machine learning to transform care for people with cystic fibrosis.
Abroshan Mahed et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jan 19(1) 6-8
Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.
Lee Stacey et al. JAMA network open 2020 Jan 3(1) e1920356
Revised Recommendations for the Treatment of Infants Diagnosed with Spinal Muscular Atrophy Via Newborn Screening Who have 4 Copies of SMN2.
et al. Journal of neuromuscular diseases 2020 Jan
Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.
Etchegaray Adolfo et al. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2020 Jan
Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: benefit for prenatal counseling and pregnancy management.
Han Jin et al. Prenatal diagnosis 2020 Jan
Preimplantation genetic testing for aneuploidy (PGT-A)-finally revealed.
Orvieto Raoul et al. Journal of assisted reproduction and genetics 2020 Feb