Published on 03/19/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
-
The role of targeted gene panel in pediatric drug-resistant epilepsy.
Wu Chang-Chun et al. Epilepsy & behavior : E&B 2020 Mar 106107003 -
Patient-reported burden of hereditary angioedema: findings from a US patient survey.
Banerji Aleena et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Mar -
Mitochondrial disease in children.
Rahman Shamima et al. Journal of internal medicine 2020 Mar -
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Beecroft Sarah J et al. Annals of clinical and translational neurology 2020 Mar -
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked Naomi et al. European journal of medical genetics 2020 Mar 103901 -
Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar -
Establishing Genotype-phenotype Correlation in USH2A-related Disorders to Personalize Audiological Surveillance and Rehabilitation.
Molina-Ramírez Leslie P et al. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020 Apr 41(4) 431-437
Cancer
-
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu David et al. Haematologica 2020 Mar -
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.
Heald Brandie et al. Familial cancer 2020 Mar -
Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.
Garrett Alice et al. Journal of medical genetics 2020 Mar -
From Somatic Variants Toward Precision Oncology: An Investigation of Reporting Practice for Next-Generation Sequencing-Based Circulating Tumor DNA Analysis.
Peng Rongxue et al. The oncologist 2020 Mar 25(3) 218-228 -
Accurate 3-gene-signature for early diagnosis of liposarcoma progression.
Serguienko Anastassia et al. Clinical sarcoma research 2020 104 -
Diet, weight management, physical activity and Ovarian & Breast Cancer Risk in women with BRCA1/2 pathogenic Germline gene variants: systematic review.
Coletta Adriana M et al. Hereditary cancer in clinical practice 2020 185 -
Next-generation sequencing-based BRCA testing on cytological specimens from ovarian cancer ascites reveals high concordance with tumour tissue analysis.
Fumagalli Caterina et al. Journal of clinical pathology 2020 Mar 73(3) 168-171 -
Variants of uncertain clinical significance in hereditary breast and ovarian cancer genes: best practices in functional analysis for clinical annotation.
Monteiro Alvaro N et al. Journal of medical genetics 2020 Mar -
Exploring the barriers preventing Indigenous Australians from accessing cancer genetic counseling.
Gonzalez Tina et al. Journal of genetic counseling 2020 Mar -
Upgraded standardized minimal residual disease detection by next-generation sequencing in multiple myeloma.
Yao Qiumei et al. The Journal of molecular diagnostics : JMD 2020 Mar -
Use of an Online Breast Cancer Risk Assessment and Patient Decision Aid in Primary Care Practices.
Eden Karen B et al. Journal of women's health (2002) 2020 Mar -
Development and Validation of a Prognostic Nomogram for Gastric Cancer Based on DNA Methylation-Driven Differentially Expressed Genes.
Bai Yi et al. International journal of biological sciences 2020 16(7) 1153-1165 -
Deep neural network classification based on somatic mutations potentially predicts clinical benefit of immune checkpoint blockade in lung adenocarcinoma.
Peng Jie et al. Oncoimmunology 2020 9(1) 1734156 -
The impact of Oncotype DX breast cancer assay results on clinical practice: a UK experience.
Crolley Valerie E et al. Breast cancer research and treatment 2020 Mar -
GeneReader NGS System Is a Useful Sequencing Platform for Clinical Testing of BRCA1 and BRCA2 .
Lee Eun Jin et al. Annals of clinical and laboratory science 2020 Jan 50(1) 107-118 -
Development and validation of an individualized gene expression-based signature to predict overall survival in metastatic colorectal cancer.
Ye Shu-Biao et al. Annals of translational medicine 2020 Feb 8(4) 96 -
How and when to refer patients for oncogenetic counseling in the era of PARP inhibitors.
Neviere Zoé et al. Therapeutic advances in medical oncology 2020 121758835919897530
Chronic Disease
-
Psychological reactions to predictive genetic testing for Huntington's disease: A qualitative study.
Tillerås Kristine H et al. Journal of genetic counseling 2020 Mar -
"Choosing Wisely": Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer's Disease in Dementia Clinics.
Yang Hyun Ju et al. Journal of Alzheimer's disease : JAD 2020 Mar -
Patient perspectives on the diagnostic journey to a monogenic diabetes diagnosis: Barriers and facilitators.
Guan Yue et al. Journal of genetic counseling 2020 Mar
Ethics/Policy/Law
-
'It's much more grey than black and white': clinical geneticists' views on the oversight of consumer genomics in Europe.
Kalokairinou Louiza et al. Personalized medicine 2020 Mar -
"My Research Is Their Business, but I'm Not Their Business": Patient and Clinician Perspectives on Commercialization of Precision Oncology Data.
Spector-Bagdady Kayte et al. The oncologist 2020 Mar -
The Ethics of Delivering Precision Medicine-Pretest Counseling and Somatic Genomic Testing.
Borno Hala T et al. JAMA oncology 2020 Mar -
An Alaska Native community's views on genetic research, testing, and return of results: Results from a public deliberation.
Hiratsuka Vanessa Y et al. PloS one 2020 15(3) e0229540 -
Evolving public views on the value of one's DNA and expectations for genomic database governance: Results from a national survey.
Briscoe Forrest et al. PloS one 2020 15(3) e0229044
Practice
-
Clinical Interpretation of Sequence Variants.
Zhang Junyu et al. Current protocols in human genetics 2020 Jun 106(1) e98 -
Peridiagnostic and cascade cancer genetic testing.
Pashayan Nora et al. Nature reviews. Clinical oncology 2020 Mar -
International consortium for personalized medicine: an international survey about the future of personalized medicine.
Venne Julien et al. Personalized medicine 2020 Mar
Heart, Lung, Blood and Sleep Diseases
-
Genes associated with inflammation may serve as biomarkers for the diagnosis of coronary artery disease and ischaemic stroke.
Zheng Peng-Fei et al. Lipids in health and disease 2020 Mar 19(1) 37 -
Genetic diagnosis in practice: From cystic fibrosis to CFTR-related disorders.
Pagin A et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS25-eS29 -
Genomic susceptibility in practice: The regulatory trajectory of non-rare thrombophilia (NRT) genetic tests in the clinical management of venous thrombo-embolism (VTE).
Turrini Mauro et al. Social science & medicine (1982) 2020 Mar 112903 -
Protocol for the EARCO Registry: a pan-European observational study in patients with α 1 -antitrypsin deficiency.
Greulich Timm et al. ERJ open research 2020 Jan 6(1) -
Variant Interpretation for Dilated Cardiomyopathy (DCM): Refinement of the ACMG/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales Ana et al. Circulation. Genomic and precision medicine 2020 Mar -
Overcoming current limitations of genetic testing in cardiovascular medicine.
Marian Ali J et al. Current opinion in cardiology 2020 Mar -
Current and future diagnosis of cystic fibrosis: Performance and limitations.
Bienvenu T et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS19-eS24 -
Genetic counseling for cystic fibrosis: A basic model with new challenges.
Bieth E et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS30-eS34 -
Genetic Cardiovascular Conditions - It's All About Family.
Skinner Jonathan R et al. Heart, lung & circulation 2020 Apr 29(4) 495-497
Newborn Screening
-
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms.
Langan Thomas J et al. JIMD reports 2020 Mar 52(1) 35-42 -
Newborn screening for CF in France: An exemplary national experience.
Audrézet M P et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2020 Feb 27 Suppl 1eS35-eS40
Pharmacogenomics
-
Genotype-guided warfarin therapy: Still of only questionable value two decades on.
Shah Rashmi R et al. Journal of clinical pharmacy and therapeutics 2020 Mar -
Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.
Hejazian Seyede Mina et al. Expert review of clinical pharmacology 2020 Feb 13(2) 147-156
Reproductive Health
-
Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation.
Gadsbøll Kasper et al. Acta obstetricia et gynecologica Scandinavica 2020 Mar -
A genomics approach to females with infertility and recurrent pregnancy loss.
Maddirevula Sateesh et al. Human genetics 2020 Mar -
Eleven healthy live births: a result of simultaneous preimplantation genetic testing of α- and β-double thalassemia and aneuploidy screening.
Chen Dongjia et al. Journal of assisted reproduction and genetics 2020 Mar