Published on 09/26/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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The application of PGT-A for carriers of balanced structural chromosomal rearrangements.
Violeta Fodina et al. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2019 35(sup1) 18-23 -
A position statement about predictive genetic testing among children.
Mrayyan Majd et al. Nursing children and young people 2019 Sep -
Support, information, and integration of genetics for children with congenital lower limb deficiencies in British Columbia, Canada.
Campbell Teresa et al. Paediatrics & child health 2019 Sep 24(6) 395-401 -
Yield of modern genetic evaluation for patients with proximal hypospadias and descended gonads.
Rowe C K et al. Journal of pediatric urology 2019 Jul -
Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis.
Connolly Mark P et al. Orphanet journal of rare diseases 2019 Sep 14(1) 220 -
Genetic Testing Experiences Among Parents of Children with Autism Spectrum Disorder in the United States.
Zhao Shixi et al. Journal of autism and developmental disorders 2019 Sep
Cancer
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A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George Sally L et al. European journal of cancer (Oxford, England : 1990) 2019 Sep -
Relationship Between Hereditary Cancer Syndromes and Oncotype DX Recurrence Score.
Casasanta Nicole et al. Clinical breast cancer 2019 Aug -
Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European.
Ndugga-Kabuye Mesaki K et al. Familial cancer 2019 Sep -
Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.
Carbonell Diego et al. Cancers 2019 Sep 11(9) -
Molecular targeted therapy of glioblastoma.
Le Rhun Emilie et al. Cancer treatment reviews 2019 Sep 80101896 -
An updated review of microsatellite instability in the era of next-generation sequencing and precision medicine.
Yamamoto Hiroyuki et al. Seminars in oncology 2019 Sep -
Li-Fraumeni syndrome: not a straightforward diagnosis anymore-the interpretation of pathogenic variants of low allele frequency and the differences between germline PVs, mosaicism, and clonal hematopoiesis.
Batalini Felipe et al. Breast cancer research : BCR 2019 Sep 21(1) 107 -
Detection of RAS mutations in circulating tumor DNA: a new weapon in an old war against colorectal cancer. A systematic review of literature and meta-analysis.
Galvano Antonio et al. Therapeutic advances in medical oncology 2019 111758835919874653 -
Low Abundance of Circulating Tumor DNA in Localized Prostate Cancer.
Hennigan S Thomas et al. JCO precision oncology 2019 3 -
Tumor-derived DNA from pleural effusion supernatant as a promising alternative to tumor tissue in genomic profiling of advanced lung cancer.
Tong Lin et al. Theranostics 2019 9(19) 5532-5541 -
Impact of free cancer predisposition cascade genetic testing on uptake in Singapore.
Courtney Eliza et al. NPJ genomic medicine 2019 422 -
Breast Cancer Prognostic Tests: Helping Patients Understand Testing Results and Their Implications.
Miller Lisa et al. Clinical journal of oncology nursing 2019 Oct 23(5) 478-481 -
Integrating a Next Generation Sequencing Panel into Clinical Practice in Ovarian Cancer.
Lee Yong Jae et al. Yonsei medical journal 2019 Oct 60(10) 914-923 -
Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.
Page Elizabeth C et al. European urology 2019 Sep -
Population prevalence of individuals meeting criteria for hereditary breast and ovarian cancer testing.
Greenberg Samantha et al. Cancer medicine 2019 Sep -
[Diagnostics of malignant melanoma of the skin : Recommendations of the current S3 guidelines on histology and molecular pathology].
Rose C et al. Der Pathologe 2017 Feb 38(1) 49-61 -
[Status of the availability and use of next generation sequencing (NGS) in bladder cancer-a questionnaire within the uropathology working group].
Ortiz-Br?chle N et al. Der Urologe. Ausg. A 2019 Sep -
Declining detection rates for APC and biallelic MUTYH variants in polyposis patients, implications for DNA testing policy.
Terlouw Diantha et al. European journal of human genetics : EJHG 2019 Sep -
A 6-Gene Risk Signature Predicts Survival of Glioblastoma Multiforme.
Zhao Jingwei et al. BioMed research international 2019 20191649423 -
STELO: a new tool for family physicians for the correct identification of inherited cancer syndromes.
Mariani Chiara et al. Family practice 2019 Sep -
Recommendations on Surveillance and Management of Biallelic Mismatch Repair Deficiency (BMMRD) Syndrome: A Consensus Statement by the US Multi-Society Task Force on Colorectal Cancer.
Durno Carol et al. The American journal of gastroenterology 2017 112(5) 682-690 -
Indian Society of Neuro-Oncology consensus guidelines for the contemporary management of medulloblastoma.
Gupta Tejpal et al. Neurology India 65(2) 315-332 -
Approaches to patients with variants in RAG genes: from diagnosis to timely treatment.
Bulkhi Adeeb A et al. Expert review of clinical immunology 2019 Sep -
Health professional and at-risk BRCA young adult perspectives about information needs: What does Gen Y need to know?
Young Alison Luk et al. Journal of genetic counseling 2019 Sep
Chronic Disease
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Circulating miRNAs as Novel Diagnostic Biomarkers in Nonalcoholic Fatty Liver Disease: A Systematic Review and Meta-Analysis.
Cai Changzhou et al. Canadian journal of gastroenterology & hepatology 2019 20192096161 -
Complement Factor H Gene Mutations: Implications for Genetic Testing and Precision Medicine in Macular Degeneration.
den Hollander Anneke I et al. Ophthalmology 2019 Oct 126(10) 1422-1423 -
Perceptions of precision medicine among diverse dementia caregivers and professional providers.
Gaugler Joseph E et al. Alzheimer's & dementia (New York, N. Y.) 2019 5468-474
Ethics/Policy/Law
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Data in question: A survey of European biobank professionals on ethical, legal and societal challenges of biobank research.
Goisauf Melanie et al. PloS one 2019 14(9) e0221496 -
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia.
Milne Richard et al. Human genetics 2019 Sep -
Participant Engagement in Translational Genomics Research: Respect for Persons-and Then Some.
Childerhose Janet E et al. Ethics & human research 2019 Sep 41(5) 2-15 -
Moving Beyond 'Therapy' and 'Enhancement' in the Ethics of Gene Editing.
Cwik Bryan et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2019 Oct 28(4) 695-707 -
Stakeholders' perspectives on the post-mortem use of genetic and health-related data for research: a systematic review.
Bak Marieke A R et al. European journal of human genetics : EJHG 2019 Sep
Practice
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Supervision in genetic counselor training in North America: A systematic review.
Siskind Carly E et al. Journal of genetic counseling 2019 Sep -
Making work visible for electronic phenotype implementation: lessons learned from the eMERGE network.
Shang Ning et al. Journal of biomedical informatics 2019 Sep 103293 -
Adapting ACMG/AMP sequence variant classification guidelines for single-gene copy number variants.
Brandt Tracy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Sep
Heart, Lung, Blood and Sleep Diseases
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Gene therapy for hemophilia: Progress to date and challenges moving forward.
Gollomp Kandace L et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2019 Aug -
Biobanking for discovery of novel cardiovascular biomarkers using imaging-quantified disease burden: protocol for the longitudinal, prospective, BioHEART-CT cohort study.
Kott Katharine A et al. BMJ open 2019 Sep 9(9) e028649 -
The yield of postmortem genetic testing in sudden death cases with structural findings at autopsy.
Lahrouchi Najim et al. European journal of human genetics : EJHG 2019 Sep -
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Bennett Jeffrey S et al. Pediatric cardiology 2019 Sep -
Poor outcomes in carriers of the RNF213 variant (p.Arg4810Lys) with pulmonary arterial hypertension.
Hiraide Takahiro et al. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2019 Sep -
The Pharmacogenomics of Inhaled Corticosteroids and Lung Function Decline in COPD.
Obeidat Ma'en et al. The European respiratory journal 2019 Sep
Newborn Screening
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Newborn Screening for Sickle Cell Disease Using Point-of-Care Testing in Low-Income Setting.
Alvarez Ofelia A et al. Pediatrics 2019 Sep -
Newborn Screening With Sickle Cell Point of Care: A Valuable Resource in Low-Income Settings.
Ware Russell E et al. Pediatrics 2019 Sep
Pharmacogenomics
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The Influence of Beta-2 Adrenergic Receptor Gene Polymorphisms on Albuterol Therapy for Patients With Asthma: Protocol for a Systematic Review and Meta-Analysis.
Hikino Keiko et al. JMIR research protocols 2019 Sep 8(9) e14759 -
Comparison of Two Different Techniques Of Warfarin Dosing Determination - A Chemometrics Study.
Makohusová Miroslava et al. Iranian journal of pharmaceutical research : IJPR 2019 18(2) 1010-1019 -
From the Origins of Pharmacogenetics to First Applications in Psychiatry.
Müller Daniel J et al. Pharmacopsychiatry 2019 Sep -
Updated Expert Consensus Statement on Platelet Function and Genetic Testing for Guiding P2Y 12 Receptor Inhibitor Treatment in PCI.
Pauley Eric D et al. JACC. Cardiovascular interventions 2019 Sep 12(18) 1867 -
PharmVar GeneReview: CYP2D6.
Nofziger Charity et al. Clinical pharmacology and therapeutics 2019 Sep
Reproductive Health
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Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.
Kuleva M et al. BJOG : an international journal of obstetrics and gynaecology 2019 Oct 126(11) 1372-1379 -
Variations in prenatal screening in a US federal healthcare system: Same coverage, different options.
Thagard Andrew S et al. Journal of genetic counseling 2019 Sep