Published on 02/06/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study.
Lewis Celine et al. European journal of human genetics : EJHG 2020 Jan
Cancer
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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
Ethics/Policy/Law
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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
Practice
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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
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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
Newborn Screening
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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
Reproductive Health
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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