News and Publications
Birth Defects and Child Health
Understanding Exome Sequencing: Tips for the Pediatrician.
Narayanan Dhanya Lakshmi et al. Indian pediatrics 2021
The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
OncoTree: A Cancer Classification System for Precision Oncology.
Kundra Ritika et al. JCO clinical cancer informatics 2021 5221-230
Expression and prognostic impact of FZDs in pancreatic adenocarcinoma.
Li Yang et al. BMC gastroenterology 2021 21(1) 79
Chronic cor pulmonale in pulmonary sarcoidosis.
Battesti J P et al. Thorax 1978 33(1) 76-84
Lorlatinib in pretreated ALK- or ROS1-positive lung cancer and impact of TP53 co-mutations: results from the German early access program.
Frost Nikolaj et al. Therapeutic advances in medical oncology 2021 131758835920980558
Ethical, Legal and Social Issues
My Data, My Choice? - German Patient Organizations' Attitudes towards Big Data-Driven Approaches in Personalized Medicine. An Empirical-Ethical Study.
Rauter Carolin Martina et al. Journal of medical systems 2021 45(4) 43
A CRISPR response to pandemics?: Exploring the ethics of genetically engineering the human immune system.
Germani Federico et al. EMBO reports 2021 e52319
Feasibility of Embedding a Scalable, Virtually Enabled Biorepository in the Electronic Health Record for Precision Medicine.
DeMerle Kimberley M et al. JAMA network open 2021 4(2) e2037739
Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics.
Jayasinghe Kushani et al. Kidney international reports 2021 6(2) 272-283
Heart, Lung, Blood and Sleep
Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents.
Tada Hayato et al. Vascular health and risk management 2021 1759-67
Association between Gene Polymorphisms of T Cell Immunoglobulin Domain and Mucin Domain-3 and Risk of Asthma: A Systematic Review and Meta-analysis.
Wei Wenping et al. Iranian journal of allergy, asthma, and immunology 2021 20(1) 1-10
Massive data screening is a second opportunity to improve the management of patients with familial hypercholesterolemia phenotype.
Zamora Alberto et al. Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2021
Polygenic Risk Scores Predict Hypertension Onset and Cardiovascular Risk.
Vaura Felix et al. Hypertension (Dallas, Tex. : 1979) 2021 HYPERTENSIONAHA12016471
Treatment gaps and mortality among patients with familial hypercholesterolemia and cardiovascular disease: a 4-year follow-up study.
Shemesh Elad et al. European journal of preventive cardiology 2021
The management of heterozygous familial hypercholesterolaemia with high lipoprotein (a) and statin intolerance. The guidelines a mirage?
Dal Pino Beatrice et al. European journal of preventive cardiology 2021
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
Morales Ana et al. The Journal of molecular diagnostics : JMD 2021
Risk-adapted starting age of breast cancer screening in women with a family history of ovarian or other cancers: A nationwide cohort study.
Mukama Trasias et al. Cancer 2021
Lifestyle, behavioral, and dietary risk factors in relation to mammographic breast density in women at high risk for breast cancer.
Ahern Thomas P et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021
The role of the genetic testing industry in patient education of hereditary cancer: An observational study assessing the quality of patient education videos.
Greenberg D C et al. Gynecologic oncology 2021
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
Aronson Melyssa et al. Journal of medical genetics 2021
Clinical benefit for clinical sequencing using cancer panel testing.
Nishimura Sadaaki et al. PloS one 2021 16(2) e0247090
Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with Lynch syndrome.
Ferrer-Avargues Rosario et al. Cancer communications (London, England) 2021
Economic evaluation of point of care universal newborn screening for glucose-6-Phosphate dehydrogenase deficiency in United States.
Vidavalur Ramesh et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 1-9
Impact of pretreatment dihydropyrimidine dehydrogenase genotype-guided fluoropyrimidine dosing on chemotherapy associated adverse events.
Wigle Theodore J et al. Clinical and translational science 2021
Comparison of Medication Alerts from Two Commercial Applications in the USA.
Shah Sonam N et al. Drug safety 2021
Genetic Implications in High-Risk Pregnancy and Its Outcome: A 2-year Study.
Afifi Hanan H et al. American journal of perinatology 2021
The Effectiveness of Next-Generation Sequencing-Based Preimplantation Genetic Testing for Balanced Translocation Couples.
Liu Hongfang et al. Cytogenetic and genome research 2021 1-9