Published on 08/06/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetics of Neonatal Hypoglycaemia.
Zoledziewska Magdalena et al. Pediatric endocrinology reviews : PER 2020 Jun 17(3) 257-267 -
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases Network.
Cope Heidi et al. Molecular genetics & genomic medicine 2020 Jul e1397 -
Rapid Phenotype-Driven Gene Sequencing with the NeoSeq Panel: A Diagnostic Tool for Critically Ill Newborns with Suspected Genetic Disease.
de Castro María José et al. Journal of clinical medicine 2020 Jul 9(8) -
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: it is never too late.
Minardi Raffaella et al. Clinical genetics 2020 Jul -
Optimizing Genetic Diagnosis of Neurodevelopmental Disorders in the Clinical Setting.
Michelson David Joshua et al. Clinics in laboratory medicine 2020 Sep 40(3) 231-256 -
Comparative clinical and genomic analysis of neurofibromatosis type 2-associated cranial and spinal meningiomas.
Pemov Alexander et al. Scientific reports 2020 Jul 10(1) 12563
Cancer Genomics
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Efficient mutation screening for cervical cancers from circulating tumor DNA in blood.
Lee Sun-Young et al. BMC cancer 2020 Jul 20(1) 694 -
Limited Practical Utility of Liquid Biopsy in the Treated Patients with Advanced Breast Cancer.
Niwinska Anna et al. Diagnostics (Basel, Switzerland) 2020 Jul 10(8) -
Prognostic value of tumor stromal collagen features in patients with hepatocellular carcinoma revealed by second-harmonic generation microscopy.
Lin Liyan et al. Experimental and molecular pathology 2020 Jul 116104513 -
Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan.
et al. ESMO open 2020 Jul 5(4) -
A DNA Methylation-Based Panel for the Prognosis and Dagnosis of Patients With Breast Cancer and Its Mechanisms.
Liu Xiao-Ping et al. Frontiers in molecular biosciences 2020 7118 -
Prognostic Value of an m6A RNA Methylation Regulator-Based Signature in Patients with Hepatocellular Carcinoma.
Wu Xiaomin et al. BioMed research international 2020 20202053902 -
Prognostic Value of DNA Methylation-Driven Genes in Clear Cell Renal Cell Carcinoma: A Study Based on Methylation and Transcriptome Analyses.
Hu Maolin et al. Disease markers 2020 20208817652
Hereditary Cancer
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Racial and Ethnic Disparities in Genetic Testing at a Hereditary Breast and Ovarian Cancer Center.
Chapman-Davis Eloise et al. Journal of general internal medicine 2020 Jul -
Contralateral Risk-Reducing Mastectomy in Breast Cancer Patients Who Undergo Multigene Panel Testing.
Murphy Brittany L et al. Annals of surgical oncology 2020 Jul -
Cost-effectiveness of Breast Cancer Screening With Magnetic Resonance Imaging for Women at Familial Risk.
Geuzinge H Amarens et al. JAMA oncology 2020 Jul -
The use of genomic tests in patients with breast cancer in Lombardy: a successful healthcare model.
Pruneri Giancarlo et al. Tumori 2020 Jul 300891620943950 -
Economic Evaluation of Population-Based BRCA1/BRCA2 Mutation Testing across Multiple Countries and Health Systems.
Manchanda Ranjit et al. Cancers 2020 Jul 12(7) -
Breast MRI texture analysis for prediction of BRCA-associated genetic risk.
Vasileiou Georgia et al. BMC medical imaging 2020 Jul 20(1) 86 -
A mismatch in care: results of a United Kingdom-wide patient and clinician survey of gynaecological services for women with Lynch syndrome.
Ryan Neil A J et al. BJOG : an international journal of obstetrics and gynaecology 2020 Jul -
Secondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA.
Piombino Claudia et al. Journal of oncology 2020 20206384190
Chronic Disease
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Genetic Testing for Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Impact on Clinical Management.
Roggenbuck Jennifer et al. Clinics in laboratory medicine 2020 Sep 40(3) 271-287
Ethics/Policy/Law
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Systemic Modelling in Bioethics.
Stoeklé Henri-Corto et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2020 Jul 1-13 -
Ethics of returning children's individual research findings: from principles to practice.
Vanaken Gert-Jan et al. European child & adolescent psychiatry 2020 Jul
Practice
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Population genetic screening efficiently identifies carriers of autosomal dominant diseases.
Grzymski J J et al. Nature medicine 2020 Jul
Heart, Lung, Blood and Sleep Diseases
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Next-generation sequencing to confirm clinical familial hypercholesterolemia.
Reeskamp Laurens F et al. European journal of preventive cardiology 2020 Jul 2047487320942996 -
Characterization of genetic and phenotypic heterogeneity of obstructive sleep apnea using electronic health records.
Veatch Olivia J et al. BMC medical genomics 2020 Jul 13(1) 105 -
MTHFR Gene Polymorphisms Prevalence and Cardiovascular Risk Factors Involved in Cardioembolic Stroke Type and Severity.
Chita Dana Simona et al. Brain sciences 2020 Jul 10(8)
Newborn Screening
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Targeted next generation sequencing for newborn screening of Menkes disease.
Parad Richard B et al. Molecular genetics and metabolism reports 2020 Sep 24100625 -
Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.
Cavdarli Busranur et al. Genetic testing and molecular biomarkers 2020 Jul -
Improving the Diagnosis of Phenylketonuria by Using a Machine Learning-Based Screening Model of Neonatal MRM Data.
Zhu Zhixing et al. Frontiers in molecular biosciences 2020 7115
Pharmacogenomics
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Pharmacogenetics in psychiatric care, a call for uptake of available applications.
Lunenburg Carin A T C et al. Psychiatry research 2020 Jul 292113336 -
Randomized Trial on the Clinical Utility of a Novel Biomarker Panel to Identify Treatable Determinants of Chronic Pain.
Peabody John et al. Diagnostics (Basel, Switzerland) 2020 Jul 10(8) -
Personalized medicine in Hypercholesterolemia: The Role of Pharmacogenetics in Statin Therapy.
Ahangari Najmeh et al. Annals of medicine 2020 Jul 1-17 -
Pharmacogenetic factors affecting β-blocker metabolism and response.
Thomas Cameron D et al. Expert opinion on drug metabolism & toxicology 2020 Jul
Reproductive Health
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Clinical Molecular Genetics Evaluation in Women with Reproductive Failures.
Bilal Mahmood Y et al. American journal of reproductive immunology (New York, N.Y. : 1989) 2020 Jul e13313 -
Relationship between age and blastocyst chromosomal ploidy analyzed by noninvasive preimplantation genetic testing for aneuploidies (niPGT-A).
Vagnini Laura D et al. JBRA assisted reproduction 2020 Jul