Published on 08/06/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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)
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
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
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