Published on 07/26/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical utility gene card for: Fabry disease - update 2016.
Gal Andreas et al. European journal of human genetics : EJHG 2017 25(7) e1-e3 -
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Bardai G et al. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017 28(7) 2095-2101 -
A quantitative cSMART assay for noninvasive prenatal screening of autosomal recessive nonsyndromic hearing loss caused by GJB2 and SLC26A4 mutations.
Han Mingyu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Dec 19(12) 1309-1316 -
Children with type 1 Gaucher disease: Changing profiles in the 21st century.
Elstein Deborah et al. Blood cells, molecules & diseases 2018 Feb 6893-96 -
The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.
Karimi Yazdi Alireza et al. Cellular and molecular biology (Noisy-le-Grand, France) 2018 Jun 64(9) 1718 -
Diagnosis and follow-up of patients with Hunter syndrome in Spain: A Delphi consensus.
González-Gutiérrez-Solana Luis et al. Medicine 2018 Jul 97(29) e11246 -
Association and diagnostic utility of diastolic dysfunction and myocardial fibrosis in patients with Fabry disease.
Liu Dan et al. Open heart 2018 5(2) e000803 -
Oral Plasma Kallikrein Inhibitor for Prophylaxis in Hereditary Angioedema.
Aygören-Pürsün Emel et al. The New England journal of medicine 2018 Jul 379(4) 352-362 -
Application of extensively targeted next-generation sequencing for the diagnosis of primary immunodeficiencies.
Kojima Daiei et al. The Journal of allergy and clinical immunology 2016 138(1) 303-305.e3 -
Parents' advice to healthcare professionals working with children who have spinal muscular atrophy.
Hjorth Elin et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 Jan 22(1) 128-134 -
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Ogawa Erika et al. Journal of inherited metabolic disease 2017 40(5) 685-693 -
Assessing an Interactive Online Tool to Support Parents' Genomic Testing Decisions.
Adam Shelin et al. Journal of genetic counseling 2018 Jul -
Genetic disorder plus prematurity: a diagnostic challenge.
Pettinger Katherine J et al. Archives of disease in childhood. Education and practice edition 2018 Jul
Cancer
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PIK3CA mutation as a distinctive genetic feature of non-small cell lung cancer with chronic obstructive pulmonary disease: A comprehensive mutational analysis from a multi-institutional cohort.
Sawa Kenji et al. Lung cancer (Amsterdam, Netherlands) 2017 Oct 11296-101 -
A qualitative study on Singaporean women's views towards breast cancer screening and Single Nucleotide Polymorphisms (SNPs) gene testing to guide personalised screening strategies.
Wong Xin Yi et al. BMC cancer 2017 Nov 17(1) 776 -
Precision Medicine in Metastatic Colorectal Cancer: Relevant Carcinogenic Pathways and Targets-PART 1: Biologic Therapies Targeting the Epidermal Growth Factor Receptor and Vascular Endothelial Growth Factor.
Weinberg Benjamin A et al. Oncology (Williston Park, N.Y.) 2017 31(7) 539-48 -
Precision Medicine in Metastatic Colorectal Cancer: Relevant Carcinogenic Pathways and Targets-PART 2: Approaches Beyond First-Line Therapy, and Novel Biologic Agents Under Investigation.
Weinberg Benjamin A et al. Oncology (Williston Park, N.Y.) 2017 31(7) 573-80 -
Inherited predisposition to breast and ovarian cancer in non-Jewish populations in Israel.
Zidan Jamal et al. Breast cancer research and treatment 2017 Dec 166(3) 881-885 -
Analysis of First-Year Twitter Metrics of a Rare Disease Community for Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN) on Social Media: #BPDCN.
Pemmaraju Naveen et al. Current hematologic malignancy reports 2017 Dec 12(6) 592-597 -
Poor Prognostic Implication of ASXL1 Mutations in Korean Patients With Chronic Myelomonocytic Leukemia.
Kim Hyun Young et al. Annals of laboratory medicine 2018 Nov 38(6) 495-502 -
Cancer biomarker discovery for precision medicine: new progresses.
Zou Jinfeng et al. Current medicinal chemistry 2018 Jul -
miRNA in a multiomic context for diagnosis, treatment monitoring and personalized management of metastatic breast cancer.
Zubor Pavol et al. Future oncology (London, England) 2018 Jul -
Recognizing and Managing Children with a Pediatric Cancer Predisposition Syndrome: A Guide for the Pediatrician.
Coury Stephanie A et al. Pediatric annals 2018 May 47(5) e204-e216 -
Mendelian randomization studies of cancer risk: a literature review.
Pierce Brandon L et al. Current epidemiology reports 2018 Jun 5(2) 184-196 -
Genetic variants in nucleotide excision repair pathway predict survival of esophageal squamous cell cancer patients receiving platinum-based chemotherapy.
Zhang Ruoxin et al. Molecular carcinogenesis 2018 Jul -
Clinical and pre-clinical utility of genomics in medulloblastoma.
Nör Carolina et al. Expert review of neurotherapeutics 2018 Jul -
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio.
Ranola John Michael O et al. Familial cancer 2018 Jul -
Pediatric cancer families' participation in whole-genome sequencing research in Denmark: Parent perspectives.
Byrjalsen Anna et al. European journal of cancer care 2018 Jul e12877 -
Clinical validation of the next-generation sequencing-based Extended RAS Panel assay using metastatic colorectal cancer patient samples from the phase 3 PRIME study.
Udar Nitin et al. Journal of cancer research and clinical oncology 2018 Jul -
Cancer of unknown primary-Epidemiological trends and relevance of comprehensive genomic profiling.
Binder Carmen et al. Cancer medicine 2018 Jul -
Detection of EGFR mutations in plasma circulating tumour DNA as a selection criterion for first-line gefitinib treatment in patients with advanced lung adenocarcinoma (BENEFIT): a phase 2, single-arm, multicentre clinical trial.
Wang Zhijie et al. The Lancet. Respiratory medicine 2018 Jul -
B-R-C-A Test Aren't Just For Women.. Men Should Be Tested Too
WXYZ, July 18, 2018 -
Gene Expression Detection Assay for Cancer Clinical Use.
Narrandes Shavira et al. Journal of Cancer 2018 9(13) 2249-2265 -
HE4 and eIF3a Expression Correlates with Surgical Outcome and Overall Survival in Ovarian Cancer Patients with Secondary Cytoreduction.
Luo Chen-Hui et al. Journal of Cancer 2018 9(14) 2472-2479 -
Association Analysis between Body Mass Index and Genomic DNA Methylation across 15 Major Cancer Types.
Gu Yinmin et al. Journal of Cancer 2018 9(14) 2532-2542 -
Survival Outcomes by TP53 Mutation Status in Metastatic Breast Cancer.
Meric-Bernstam Funda et al. JCO precision oncology 2018 2018 -
Inherited gynaecological cancers.
George Angela et al. Current opinion in oncology 2018 Jul -
Years ago when my twin got breast cancer I took drastic action and am grateful I did
RO Selig, New Yorkt Times, May 2018 -
Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap.
McCuaig Jeanna M et al. Journal of medical genetics 2018 Jul -
Liquid biopsy in non-small cell lung cancer: a key role in the future of personalized medicine?
Pi Can et al. Expert review of molecular diagnostics 2017 17(12) 1089-1096 -
Cost-effective screening of DNMT3A coding sequence identifies somatic mutation in pediatric T-cell acute lymphoblastic leukemia.
Szarzynska-Zawadzka Bronislawa et al. European journal of haematology 2017 Dec 99(6) 514-519 -
Individualized Approach to Cancer Screening in Older Adults.
Lee Kimberley T et al. Clinics in geriatric medicine 2018 Feb 34(1) 11-23 -
Multi-label Inductive Matrix Completion for Joint MGMT and IDH1 Status Prediction for Glioma Patients.
Chen Lei et al. Medical image computing and computer-assisted intervention : MICCAI ... International Conference on Medical Image Computing and Computer-Assisted Intervention 2017 Sep 10434450-458 -
Elevation of TP53 Autoantibody Before CA125 in Preclinical Invasive Epithelial Ovarian Cancer.
Yang Wei-Lei et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Oct 23(19) 5912-5922 -
Tissue sampling in the era of precision medicine: comparison of percutaneous biopsies performed for clinical trials or tumor genomics versus routine clinical care.
Cherukuri Anjuli R et al. Abdominal radiology (New York) 2018 Jul -
Special Therapy and Psychosocial Needs Identified in a Multidisciplinary Cancer Predisposition Syndrome Clinic.
Groves Andrew P et al. Journal of pediatric hematology/oncology 2018 Jul -
Association of Transforming Growth Factor β Polymorphism C-509T With Radiation-Induced Fibrosis Among Patients With Early-Stage Breast Cancer: A Secondary Analysis of a Randomized Clinical Trial.
Grossberg Aaron J et al. JAMA oncology 2018 Jul -
BORDERLINE OVARIAN TUMORS SHARE FAMILIAL RISKS WITH ITSELF AND INVASIVE CANCERS.
Zheng Guoqiao et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jul -
Gene Expression Profiling Stratifies IDH1-Mutant Glioma with Distinct Prognoses.
Cheng Wen et al. Molecular neurobiology 2017 Oct 54(8) 5996-6005 -
Highly Sensitive and Reliable Detection of EGFR Exon 19 Deletions by Droplet Digital Polymerase Chain Reaction.
Oskina Natalya et al. Molecular diagnosis & therapy 2017 Oct 21(5) 555-562 -
Is Next-Generation Sequencing the way to go for Residual Disease Monitoring in Acute Lymphoblastic Leukemia?
Kotrova Michaela et al. Molecular diagnosis & therapy 2017 Oct 21(5) 481-492 -
Lower gastrointestinal neuroendocrine neoplasms associated with hereditary cancer syndromes: a case series.
Kidambi Trilokesh D et al. Familial cancer 2017 Oct 16(4) 537-543 -
Precision oncology: neither a silver bullet nor a dream.
Sánchez Nora S et al. Pharmacogenomics 2017 Nov 18(16) 1525-1539 -
Nipple-Sparing Mastectomy and Its Application on BRCA Gene Mutation Carrier.
Co Michael et al. Clinical breast cancer 2017 Dec 17(8) 581-584 -
Expression and Genetic Variation in Neuroendocrine Signaling Pathways in Lethal and Nonlethal Prostate Cancer among Men Diagnosed with Localized Disease.
Lu Donghao et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Dec 26(12) 1781-1787 -
Biology and Etiology of Young-Onset Breast Cancers among Premenopausal African American Women: Results from the AMBER Consortium.
Chollet-Hinton Lynn et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Dec 26(12) 1722-1729 -
A bias for action in cancer screening?
Scherer Laura D et al. Journal of experimental psychology. Applied 2018 Jul -
Attitudes towards a programme of risk assessment and stratified management for ovarian cancer: a focus group study of UK South Asians' perspectives.
Hann Katie E J et al. BMJ open 2018 Jul 8(7) e021782 -
Streamlining Decision Making in Contralateral Risk-Reducing Mastectomy: Impact of PREDICT and BOADICEA Computations.
de Silva Tania Samantha et al. Annals of surgical oncology 2018 Jul -
Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.
Dalton W Brian et al. JCO precision oncology 2017 2017 -
Precision medicine and the cancer "moonshot."
Altshuler Larry et al. MLO: medical laboratory observer 2016 Aug 48(8) 56
Chronic Disease
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Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen Ethan S et al. Journal of medical genetics 2017 Dec 54(12) 795-804 -
Genetic Screening in a Large Cohort of Italian Patients Affected by Primary Lymphedema Using a Next Generation Sequencing (NGS) Approach.
Michelini S et al. Lymphology 2016 Jun 49(2) 57-72 -
Differentially Methylated Genes in Saliva are linked to Childhood Stress.
Papale Ligia A et al. Scientific reports 2018 Jul 8(1) 10785 -
Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.
Kumar Sumeet et al. Journal of genetics 2018 Jul 97(3) 625-648 -
The time for next-generation molecular genetic diagnostics in nephrology is now!
Harris Peter C et al. Kidney international 2018 Aug 94(2) 237-239 -
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai Meng-Han et al. Frontiers in neurology 2018 9515 -
Protein affected by rare Parkinsons mutation may lurk behind many cases of the disease
NIH News, July 25, 2018 -
Genetic risk scores in the prediction of plasma glucose, impaired insulin secretion, insulin resistance and incident type 2 diabetes in the METSIM study.
Stancáková Alena et al. Diabetologia 2017 Sep 60(9) 1722-1730 -
Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: does genetic risk affect family functioning?
Lopes Alice et al. Clinical genetics 2018 Jul -
Towards personalized medicine for patients with autoimmune diseases: Opportunities and challenges.
Tavakolpour Soheil et al. Immunology letters 2017 Oct 190130-138 -
One womans race to defuse the genetic time bomb in her genes
A Regalado, Tech Review, July 23, 2018
Ethics/Policy/Law
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Broad societal debate should inform the use of genome editing in reproduction
S Griffin, BMJ, July 23, 2018 -
The Human Genome Editing Race: Loosening Regulatory Standards for Commercial Advantage?
Cathomen Toni et al. Trends in biotechnology 2018 Jul -
The Price of Precision: Genetic Testing and Drug Costs in America.
Rich Kelly et al. Genetic testing and molecular biomarkers 2018 Jul 22(7) 403-404 -
Decision Making: Approaches and Tools to Respond to Ethical Issues in Genetic and Genomic Nursing.
Steck Mary Beth et al. Clinical journal of oncology nursing 2018 Aug 22(4) 386-389 -
Consent and participation in the 100,000 Genomes Project public attitudes
Genomics England, July 18, 2018 -
Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests.
Kilbride Madison K et al. JAMA oncology 2018 Jul -
The Complexities of Ascertaining Public Preferences for Newborn Screening Policies.
Ross Lainie Friedman et al. The Journal of pediatrics 2018 Jul
Practice
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Rate of no result in cell-free DNA testing and its influence on test performance metrics.
Grati F R et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 50(1) 134-137 -
Associations between Single Nucleotide Polymorphisms and Total Energy, Carbohydrate, and Fat Intakes: A Systematic Review.
Drabsch Theresa et al. Advances in nutrition (Bethesda, Md.) 2018 Jul 9(4) 425-453 -
Color Vision Tests in Pilots' Medical Assessments.
Marechal Marie et al. Aerospace medicine and human performance 2018 Aug 89(8) 737-743 -
Calibrating scientific skepticism a wider look at the field of transgenerational epigenetics
K Mitchell, Wiring the Brain Blog, July 22, 2018 -
The Future Is Data- Precision medicine symposium focuses on data sharing, costs, access
N Fliesler, Harvard Medical School. July 2018 -
Health Disparities in Implementation of Genomic Medicine: Challenges and Opportunities
CDC Webinar, August 24, 2018 -
Why is it important to know my family medical history?
National Library of Medicine, Genetics Home Reference, July 2018 -
Machine Learning
NIH Catalyst, July 2018 -
Precision Medicine Success Hinges On Diagnostics' Clinical Utility,
by Joshua Cohen, Forbes, July 23, 2018 -
AP-NORC Poll: If DNA shows health risks, most want to know
L Neegaard et al, AP, July 19, 2018 -
CRISPR/Cascade 9-Mediated Genome Editing-Challenges and Opportunities.
Roy Bhaskar et al. Frontiers in genetics 2018 9240 -
Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare.
Al Kawam Ahmad et al. IEEE journal of biomedical and health informatics 2017 Nov -
Results of the UK NEQAS for Molecular Genetics reference sample analysis.
Richman Susan D et al. Journal of clinical pathology 2018 Jul -
Experiences of patients seeking to participate in variant of uncertain significance reclassification research.
Makhnoon Sukh et al. Journal of community genetics 2018 Jul -
Next-gen precision medicine: Consumerism, EHR integration, SMART on FHIR
B Siwicki, Healthcare IT News, July 23, 2018
Heart, Lung, Blood and Sleep Diseases
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Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.
Wang Yan et al. American journal of obstetrics and gynecology 2018 218(2) 244.e1-244.e17 -
Current insights into the German lipoprotein apheresis standard: PCSK9-inhibitors, lipoprotein apheresis or both?
Schettler V J J et al. Atherosclerosis. Supplements 2017 Nov 3044-49 -
Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel.
Ference Brian A et al. European heart journal 2017 Aug 38(32) 2459-2472 -
Clinical and genetic ancestry profile of a large multi-centre sickle cell disease cohort in Brazil.
Carneiro-Proietti Anna B F et al. British journal of haematology 2018 Jul -
Genome Sequencing in Hypertrophic Cardiomyopathy.
Ashley Euan A et al. Journal of the American College of Cardiology 2018 Jul 72(4) 430-433 -
Precision medicine in COPD exacerbations.
Agusti Alvar et al. The Lancet. Respiratory medicine 2018 Jul -
Should we screen hereditary thrombophilia testing in patients with provoked/unprovoked venous thromboembolism?
Ulas Turgay et al. International journal of cardiology 2018 Jul -
The Subtype Specificity of Genetic Loci Associated with Stroke in 16,664 cases and 32,792 controls
M Traylor et al, BioRxIV, July 20, 2018 -
The Road to There`
C Herrera, American Heart Association Blog, July 16, 2018 -
Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.
Marateb Hamid R et al. Computational and structural biotechnology journal 2018 16121-130 -
South Asian Cardiovascular Disease & Cancer Risk: Genetics & Pathophysiology.
Palaniappan Latha et al. Journal of community health 2018 Jun -
Genetic testing of 248 Chinese aortopathy patients using a panel assay.
Yang Hang et al. Scientific reports 2016 633002 -
Coverage and diagnostic yield of Whole Exome Sequencing for the Evaluation of Cases with Dilated and Hypertrophic Cardiomyopathy.
Mak Timothy Shin Heng et al. Scientific reports 2018 Jul 8(1) 10846
Newborn Screening
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Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.
Ganji Foruzan et al. Acta medica Iranica 2018 Jan 56(1) 49-55 -
An Assessment of Public Preferences for Newborn Screening Using Best-Worst Scaling.
Tarini Beth A et al. The Journal of pediatrics 2018 Jul -
Next-generation sequencing as a second-tier diagnostic test for newborn screening.
Luo Xiaomei et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Jul -
Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016.
Jones David E et al. MMWR. Morbidity and mortality weekly report 2018 Jul 67(28) 782-785
Pharmacogenomics
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Tamoxifen metabolism in breast cancer treatment: Taking the focus off the CYP2D6 gene.
Novillo A et al. The pharmacogenomics journal 2017 17(2) 109-111 -
Falls: the adverse drug reaction of the elderly and the impact of pharmacogenetics.
Just Katja Susanne et al. Pharmacogenomics 2017 Aug 18(13) 1281-1297 -
Feasibility and Utility of the Individualized Hydrocodone Therapy Based on Phenotype, Pharmacogenetics, and Pharmacokinetic Dosing.
Ruan Xiulu et al. The Clinical journal of pain 2016 32(12) 1105-1106 -
Clinical outcomes of CYP2C19 genotype-guided antiplatelet therapy: existing evidence and future directions.
Klein Melissa D et al. Pharmacogenomics 2018 Jul -
Single Nucleotide Polymorphisms in TAOK3 Are Associated with High Opioid Requirement for Pain Management in Patients with Advanced Cancer Admitted to a Tertiary Palliative Care Unit.
Gutteridge Timothy et al. Journal of pain and symptom management 2018 Jul -
The Value of Evidence in the Decision-Making Process for Reimbursement of Pharmacogenetic Dosing of Warfarin.
Janzic Andrej et al. American journal of cardiovascular drugs : drugs, devices, and other interventions 2017 Oct 17(5) 399-408 -
PharmGKB summary: sorafenib pathways.
Gong Li et al. Pharmacogenetics and genomics 2017 27(6) 240-246 -
What is the future of pharmacogenomics in pain management?
Peiró Ana M et al. Pharmacogenomics 2017 18(2) 101-103 -
Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M).
Woolley J Patrick, et al. NPJ genomic medicine 2018 0 0. 17
Reproductive Health
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Expanded Carrier Screening: A Rational Approach to Screening for Rare Diseases.
Norton Mary E et al. Obstetrics and gynecology 2017 130(2) 260-261 -
Next-generation sequencing and prenatal 'omics: advanced diagnostics and new insights into human development.
Vora Neeta L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul -
Parental Perceptions of Prenatal Whole Exome Sequencing (PPPWES) Study.
Wou Karen et al. Prenatal diagnosis 2018 Jul -
Change in rates of prenatal tests for chromosomal abnormality over a 12-year period in women of advanced maternal age.
Kim Soo Min et al. Obstetrics & gynecology science 2018 Jul 61(4) 453-460 -
Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening.
Clarke Elizabeth V et al. PloS one 2018 13(7) e0200139 -
Performance and outcomes of noninvasive prenatal testing for twin pregnancies in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2018 Jul -
Clinical Impact and Cost-Effectiveness of a 176-Condition Expanded Carrier Screen
KA Beachamp et al, BioRXIV, July 2018
Eventr
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Genome editing and human reproduction: The Nuffield Council on Bioethics' report,
by Dr Peter Mills, BioNews, July 23, 2018