Published on 03/05/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
Husson Thomas et al. Translational psychiatry 2020 Feb 10(1) 77 -
Cytogenetic and molecular diagnostic testing associated with prenatal and postnatal birth defects.
Berisha Stela Z et al. Birth defects research 2020 Mar 112(4) 293-306 -
Quantitative coordination evaluation for screening children with Duchenne muscular dystrophy.
An Jian et al. Chaos (Woodbury, N.Y.) 2020 Feb 30(2) 023116 -
Is it the right time for an infant screening for Duchenne muscular dystrophy?
Vita Gian Luca et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020 Feb -
Perceived utility of biological testing for autism spectrum disorder is associated with child and family functioning.
Yusuf Afiqah et al. Research in developmental disabilities 2020 Feb 100103605 -
Genetics of ADHD: What Should the Clinician Know?
Grimm Oliver et al. Current psychiatry reports 2020 Feb 22(4) 18 -
Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways.
Aldosary Mazhor et al. Omics : a journal of integrative biology 2020 Feb -
A Breakthrough in Genetic Medicine for Rare Disease,
by Lydia Denworth, Scientific American, March 2020
Cancer
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NCCN Updates to Hereditary Cancer Genetic Testing Criteria Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic
Michigan Cancer Consortium Newsletter, February 2020 -
When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals' views regarding disclosure of BRCA genetic cancer risk.
Young Alison Luk et al. BMJ open 2020 Feb 10(2) e033127 -
Emerging Opportunity of Cascade Genetic Testing for Population-Wide Cancer Prevention and Control.
Kurian Allison W et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Feb JCO2000140 -
Prevalence of mutations in a diverse cohort of 3162 women tested via the same multigene cancer panel in a managed care health plan.
Alvarado Mónica et al. Journal of community genetics 2020 Feb -
Perceptions of risk and reward in BRCA1 and BRCA2 mutation carriers choosing salpingectomy for ovarian cancer prevention.
Ghezelayagh Talayeh S et al. Familial cancer 2020 Feb -
Genomic Signature of the Standardized Uptake Value in 18 F-Fluorodeoxyglucose Positron Emission Tomography in Breast Cancer.
Kim Seon-Kyu et al. Cancers 2020 Feb 12(2) -
Genetic predisposition in acute leukaemia.
Wiggins Meredith et al. International journal of laboratory hematology 2020 Mar -
Targeted next-generation sequencing of 565 neuro-oncology patients at UCLA: A single-institution experience.
Ji Matthew S et al. Neuro-oncology advances 2(1) vdaa009 -
Tumor Mutational Burden From Tumor-Only Sequencing Compared With Germline Subtraction From Paired Tumor and Normal Specimens.
Parikh Kaushal et al. JAMA network open 2020 Feb 3(2) e200202 -
Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations.
Lipton Joseph H et al. Human reproduction (Oxford, England) 2020 Feb 35(2) 434-445 -
Familial Pancreatic Cancer: Current Perspectives.
Llach Joan et al. Cancer management and research 2020 12743-758 -
Inherited lung cancer: a review.
de Alencar Viviane Teixeira Loiola et al. Ecancermedicalscience 2020 141008 -
Cancer Patient-Reported Preferences and Knowledge for Liquid Biopsies and Blood Biomarkers at a Comprehensive Cancer Center.
Lee Min Joon et al. Cancer management and research 2020 121163-1173 -
Group plus "mini" individual pre-test genetic counselling sessions for hereditary cancer shorten provider time and improve patient satisfaction.
Hynes Jaclyn et al. Hereditary cancer in clinical practice 2020 183 -
A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants.
Li Xuanyi et al. Frontiers in cell and developmental biology 2020 848 -
A 6 lncRNA-Based Risk Score System for Predicting the Recurrence of Colon Adenocarcinoma Patients.
Yang Haojie et al. Frontiers in oncology 2020 1081 -
Harmonization and Standardization of Panel-Based Tumor Mutational Burden (TMB) Measurement: Real-World Results and Recommendations of the QuIP Study.
Stenzinger Albrecht et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2020 Feb -
Predictors of genetic beliefs toward cancer risk perceptions among adults in the United States: Implications for prevention or early detection.
McKinney Lawrence P et al. Journal of genetic counseling 2020 Feb -
Do the risks of Lynch syndrome-related cancers depend on the parent of origin of the mutation?
Gemechu Shimelis Dejene et al. Familial cancer 2020 Feb
Chronic Disease
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Human genetics of HCV infection phenotypes in the era of direct-acting antivirals.
Nahon Pierre et al. Human genetics 2020 Feb
Ethics/Policy/Law
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Is preparation a good reason for prenatal genetic testing? Ethical and critical questions.
Michie Marsha et al. Birth defects research 2020 Mar 112(4) 332-338
Practice
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A Centralized Approach for Practicing Genomic Medicine.
Biswas Sawona et al. Pediatrics 2020 Mar 145(3) -
Direct-to-Consumer Nutrigenetics Testing: An Overview.
Floris Matteo et al. Nutrients 2020 Feb 12(2) -
The de-coders: A historical perspective of the genetic counseling profession.
Cohen Leslie et al. Birth defects research 2020 Mar 112(4) 307-315 -
Opportunities, challenges and expectations management for translating biobank research to precision medicine.
O'Donnell Christopher J et al. European journal of epidemiology 2020 Feb
Heart, Lung, Blood and Sleep Diseases
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A novel non-invasive prenatal sickle cell disease test for all at-risk pregnancies.
van Campen Julia et al. British journal of haematology 2020 Feb -
Intentional Non-Therapy in Long QT Syndrome (LQTS).
MacIntyre Ciorsti J et al. Heart rhythm 2020 Feb -
The brave new world of genetic testing in the management of the dyslipidaemias.
Nawawi Hapizah Md et al. Current opinion in cardiology 2020 Feb -
Social and cultural influences on genetic screening programme acceptability: A mixed-methods study of the views of adults, carriers, and family members living with thalassemia in the UK.
Boardman Felicity K et al. Journal of genetic counseling 2020 Mar -
Molecular diagnosis methods in familial hypercholesterolemia.
Moldovan Valeriu et al. Anatolian journal of cardiology 2020 Feb 23(3) 120-127 -
The Genetic Puzzle of Familial Atrial Fibrillation.
Ragab Ahmed A Y et al. Frontiers in cardiovascular medicine 2020 714 -
New Patient-Centric Approaches to the Management of Alpha-1 Antitrypsin Deficiency.
Chorostowska-Wynimko Joanna et al. International journal of chronic obstructive pulmonary disease 2020 15345-355 -
Setting a research agenda for vascular Ehlers-Danlos syndrome using a patient and stakeholder engagement model.
Sage Liz et al. Journal of vascular surgery 2020 Feb -
The Evolution of Gene-Guided Management of Inherited Arrhythmia Syndromes: Peering Beyond Monogenic Paradigms Towards Comprehensive Genomic Risk Scores.
Rowe Matthew K et al. Journal of cardiovascular electrophysiology 2020 Feb -
Genetic screening of children with suspected inherited bleeding disorders.
Andersson Nadine G et al. Haemophilia : the official journal of the World Federation of Hemophilia 2020 Feb
Newborn Screening
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Mandatory newborn screening in the United States: History, current status, and existential challenges.
McCandless Shawn E et al. Birth defects research 2020 Mar 112(4) 350-366
Pharmacogenomics
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Pharmacogenomics in Asian subpopulations and impacts on commonly prescribed medications.
Lo Cody et al. Clinical and translational science 2020 Feb
Reproductive Health
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Fertility care in the era of commercial direct-to-consumer home DNA kits: issues to ponder.
Rotshenker-Olshinka Keren et al. Journal of assisted reproduction and genetics 2020 Feb -
Interest in expanded carrier screening among individuals and couples in the general population: systematic review of the literature.
Van Steijvoort Eva et al. Human reproduction update 2020 Feb -
Maternity healthcare professionals' views and experiences of fetal genomic uncertainty: a review.
Hui Lisa et al. Prenatal diagnosis 2020 Feb -
Non-invasive prenatal testing: what are we missing?
Fries N et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Mar -
Preimplantation genetic testing with HLA matching: from counseling to birth and beyond.
De Rycke M et al. Journal of human genetics 2020 Feb