Published on 08/16/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
Hall Deborah A et al. Handbook of clinical neurology 2018 147377-391 -
The clinical implications of molecular monitoring and analyses of inherited retinal diseases.
Chacón-Camacho Oscar F et al. Expert review of molecular diagnostics 2017 17(11) 1009-1021 -
Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi surveys.
Potter Beth K et al. Trials 2017 Dec 18(1) 603 -
Early feeding practices in infants with phenylketonuria across Europe.
Pinto A et al. Molecular genetics and metabolism reports 2018 Sep 1682-89 -
Rare Disease Diagnostics: A Single-center Experience and Lessons Learnt.
Weiss Karin et al. Rambam Maimonides medical journal 2018 Jul 9(3) -
Qualitative Research to Explore the Patient Experience of X-Linked Hypophosphatemia and Evaluate the Suitability of the BPI-SF and WOMAC® as Clinical Trial End Points.
Theodore-Oklota Christina et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2018 Aug 21(8) 973-983 -
[UTILIZATION OF WHOLE EXOME SEQUENCING IN DIAGNOSTICS OF GENETIC DISEASE: RABIN MEDICAL CENTER'S EXPERIENCE].
Cohen Lior et al. Harefuah 2017 Apr 156(4) 212-216 -
Challenges in the Diagnosis of Anderson-Fabry Disease: A Deceptively Simple and Yet Complicated Genetic Disease.
Marian Ali J et al. Journal of the American College of Cardiology 2016 68(10) 1051-3 -
A comprehensive clinical and genetic study in 127 patients with ID in Kinshasa, DR Congo.
Lumaka Aimé et al. American journal of medical genetics. Part A 2018 Aug -
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man Cynthia et al. European journal of human genetics : EJHG 2018 Aug -
Genomics in neurodevelopmental disorders: an avenue to personalized medicine.
Tarlungeanu Dora C et al. Experimental & molecular medicine 2018 Aug 50(8) 100 -
Diagnostic value of partial exome sequencing in developmental disorders.
Gieldon Laura et al. PloS one 2018 13(8) e0201041 -
Genomic sequencing in acutely ill infants: what will it take to demonstrate clinical value?
Grosse Scott D et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Autosomal-dominant cerebellar ataxias.
Mundwiler Andrew et al. Handbook of clinical neurology 2018 147173-185 -
Primary familial brain calcifications.
Quintáns Beatriz et al. Handbook of clinical neurology 2018 147307-317 -
Autosomal-recessive cerebellar ataxias.
Fogel Brent L et al. Handbook of clinical neurology 2018 147187-209
Cancer
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Mismatch Repair Deficiency in Colorectal Cancers: Is Somatic Genomic Testing the Grab-Bag for All Answers?
Ngeow Joanne et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 34(18) 2085-7 -
Implications of Mutation Profiling in Myeloid Malignancies-PART 1: Myelodysplastic Syndromes and Acute Myeloid Leukemia.
Tremblay Douglas et al. Oncology (Williston Park, N.Y.) 2018 32(4) e38-e44 -
Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.
Ponz de Leon Maurizio et al. Scandinavian journal of gastroenterology 2018 Jan 53(1) 31-37 -
Influence of IL15 gene variations on the clinical features, treatment response and risk of developing childhood acute lymphoblastic leukemia in Latvian population.
Rots Dmitrijs et al. Pediatric hematology and oncology 2018 Feb 35(1) 37-44 -
Best colonoscopy frequency in Lynch syndrome unclear
Reuters Health News, August 14, 2018 -
Circulating tumoral DNA: Preanalytical validation and quality control in a diagnostic laboratory.
Nikolaev Sergey et al. Analytical biochemistry 2018 54234-39 -
EGFR Mutation Testing of non-squamous NSCLC: Impact and Uptake during Implementation of Testing Guidelines in a Population-Based Registry Cohort from Northern New Zealand.
McKeage Mark et al. Targeted oncology 2017 12(5) 663-675 -
The role of genomics in patients with advanced prostate cancer.
Hussain Maha H et al. Clinical advances in hematology & oncology : H&O 2017 Oct 15(10) 770-772 -
The NETest: The Clinical Utility of Multigene Blood Analysis in the Diagnosis and Management of Neuroendocrine Tumors.
Modlin Irvin M et al. Endocrinology and metabolism clinics of North America 2018 Sep 47(3) 485-504 -
Precision Medicine in Relapsed and Refractory Childhood Cancers: Single-center Experience, Literature Review, and Meta-analysis.
Mordechai Oz et al. Rambam Maimonides medical journal 2018 Jul 9(3) -
Genetics and epigenetics of pediatric leukemia in the era of precision medicine.
Ramos Kristie N et al. F1000Research 2018 7 -
Ovarian cancer genetics unravelled
K Wighton, Imperial College, August 13, 2018 -
Adrenocortical carcinoma (ACC): When and why should we consider germline testing?
Petr Elisabeth Joye et al. Presse medicale (Paris, France : 1983) 2018 Aug -
Biological material collection to advance translational research and treatment of children with CNS tumours: position paper from the SIOPE Brain Tumour Group.
Rutkowski Stefan et al. The Lancet. Oncology 2018 Aug 19(8) e419-e428 -
Cost-effectiveness and safety of the molecular targeted drugs afatinib, gefitinib and erlotinib as first-line treatments for patients with advanced EGFR mutation-positive non-small-cell lung cancer.
Kimura M et al. Molecular and clinical oncology 2018 Aug 9(2) 201-206 -
Metabolic signature of squamous cell carcinoma of the head and neck: Consequences of TP53 mutation and therapeutic perspectives.
Wilkie Mark D et al. Oral oncology 2018 Aug 831-10 -
Study protocol: a cluster randomized controlled trial of web-based decision support tools for increasing BRCA1/2 genetic counseling referral in primary care.
Silverman Thomas B et al. BMC health services research 2018 Aug 18(1) 633 -
Impact of tumour profiling on clinical trials in salivary gland cancer.
Rack Samuel et al. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2018 Aug -
Patterns of family communication and preferred resources for sharing information among families with a Lynch syndrome diagnosis.
Petersen Jenna et al. Patient education and counseling 2018 Jul -
Clinical genetic testing outcome with multi-gene panel in Asian patients with multiple primary cancers.
Chan Gloria H J et al. Oncotarget 2018 Jul 9(55) 30649-30660 -
Gene-expression signature regulated by the KEAP1-NRF2-CUL3 axis is associated with a poor prognosis in head and neck squamous cell cancer.
Namani Akhileshwar et al. BMC cancer 2018 18(1) 46 -
Methylation markers differentiate thyroid cancer from benign nodules.
Stephen J K et al. Journal of endocrinological investigation 2018 Feb 41(2) 163-170 -
Large-Scale EGFR Mutation Testing in Clinical Practice: Analysis of a Series of 18,920 Non-Small Cell Lung Cancer Cases.
Evans Matthew et al. Pathology oncology research : POR 2018 Aug -
Additional germline findings from a tumor profiling program.
Stjepanovic Neda et al. BMC medical genomics 2018 Aug 11(1) 65 -
Zooming in on cancer suspects
S Buckles, Mayo Clinic, August 13, 2018 -
Management of Individuals at Increased Hereditary Risk
ASCO, 2018 -
21-gene recurrence score testing in the older population with estrogen receptor-positive breast cancer.
Kizy Scott et al. Journal of geriatric oncology 2018 Aug -
Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.
Matsen Cindy B et al. Patient education and counseling 2018 Aug -
Tumor Mutation Burden as a Biomarker in Resected Non-Small-Cell Lung Cancer.
Devarakonda Siddhartha et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Aug JCO2018781963 -
Tumor drug penetration measurements could be the neglected piece of the personalized cancer treatment puzzle.
Bartelink Imke H et al. Clinical pharmacology and therapeutics 2018 Aug -
[Clinical Implementation of Precision Medicine].
Tomida Shuta et al. Gan to kagaku ryoho. Cancer & chemotherapy 2018 Apr 45(4) 601-604 -
The diagnostic role of plasma circulating precursors of miRNA-944 and miRNA-3662 for non-small cell lung cancer detection.
Powrózek Tomasz et al. Pathology, research and practice 2017 Nov 213(11) 1384-1387 -
Gene Expression Signatures and Immunohistochemical Subtypes Add Prognostic Value to Each Other in Breast Cancer Cohorts.
Lundberg Arian et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Dec 23(24) 7512-7520 -
Pathway-Enriched Gene Signature Associated with 53BP1 Response to PARP Inhibition in Triple-Negative Breast Cancer.
Hassan Saima et al. Molecular cancer therapeutics 2017 Dec 16(12) 2892-2901 -
Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.
Pujol Pascal et al. European journal of human genetics : EJHG 2018 Aug -
Is a Family History of the Breast Cancer Related to Women's Cancer Prevention Behaviors?
Bertoni Neilane et al. International journal of behavioral medicine 2018 Aug -
Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing.
Shimelis Hermela et al. Journal of the National Cancer Institute 2018 Aug -
The Use of Circulating Tumor DNA for Prognosis of Gastrointestinal Cancers.
Saluja Hariti et al. Frontiers in oncology 2018 8275 -
Breath biopsy for early detection and precision medicine in cancer.
van der Schee Marc et al. Ecancermedicalscience 2018 12ed84 -
Cardiotoxicity: precision medicine with imprecise definitions.
Chung Robin et al. Open heart 2018 5(2) e000774 -
Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay.
Farber-Katz Suzette et al. Frontiers in oncology 2018 8286 -
Multidisciplinary molecular tumour board: a tool to improve clinical practice and selection accrual for clinical trials in patients with cancer.
Rolfo Christian et al. ESMO open 2018 3(5) e000398 -
Pancreatic cancer survival analysis defines a signature that predicts outcome.
Raman Pichai et al. PloS one 2018 13(8) e0201751 -
From the small screen to breast cancer screening: examining the effects of a television storyline on awareness of genetic risk factors.
Rosenthal Erica L et al. Journal of communication in healthcare 2018 11(2) 140-150 -
A digital RNA signature of Circulating Tumor Cells predicting early therapeutic response in localized and metastatic breast cancer.
Kwan Tanya T et al. Cancer discovery 2018 Aug -
Knowledge Level and Educational Needs of Turkish Oncology Nurses Regarding the Genetics of Hereditary Breast and Ovarian Cancer.
Seven Memnun et al. Journal of continuing education in nursing 2017 Dec 48(12) 570-576 -
Approaches to Identify and Care for Individuals with Inherited Cancer Syndromes (U01 Clinical Trial Required)
NCI Moonshot Funding Announcement, August 10, 2018 -
Validation of the Oncomine ? focus panel for next-generation sequencing of clinical tumour samples.
Williams Hannah L et al. Virchows Archiv : an international journal of pathology 2018 Aug -
Clinical utility of assessing PTEN and ERG protein expression in prostate cancer patients: a proposed method for risk stratification.
Bismar Tarek A et al. Journal of cancer research and clinical oncology 2018 Aug -
Recommendations for the Management of Rare Kidney Cancers.
Giles Rachel H et al. European urology 2017 72(6) 974-983 -
Molecular Testing to Optimize and Personalize Decision Making in the Management of Colorectal Cancer.
Al-Hajeili Marwan et al. Oncology (Williston Park, N.Y.) 2017 31(4) 301-12 -
Potential Role of MicroRNA-375 as Biomarker in Human Cancers Detection: A Meta-Analysis.
Yan Jin et al. BioMed research international 2017 20171875843 -
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression.
Therkildsen Christina et al. International journal of urology : official journal of the Japanese Urological Association 2016 23(6) 528-9 -
Medically underserved women in the Southeast rarely receive BRCA tests
VUMC Reporter, August 14, 2018 -
The Role of Next-Generation Sequencing in Enabling Personalized Oncology Therapy.
Cummings C A et al. Clinical and translational science 2016 9(6) 283-292 -
Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation.
Litton Jennifer K et al. The New England journal of medicine 2018 Aug
Chronic Disease
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Clinical approach to the patient with neurogenetic disease.
Bird Thomas D et al. Handbook of clinical neurology 2018 1473-9 -
The lived experience of Huntington's disease: A phenomenological perspective on genes, the body and the lived experience of a genetic disease.
Hagen Niclas et al. Health (London, England : 1997) 2018 22(1) 72-86 -
The value of genetic risk scores in precision medicine for diabetes
MI McCarthy et al, Expert Rev Precision Medicine and Drug Development, August 2018 -
New NIH reference book is one-stop resource for diabetes medical information-
Diabetes in America sheds light on national burden of diabetes.
NIH information, August 14, 2018 -
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Khera Amit V et al. Nature genetics 2018 Aug -
Gene therapy for neurological disorders: progress and prospects.
Deverman Benjamin E et al. Nature reviews. Drug discovery 2018 Aug -
Non-response to colchicine in familial Mediterranean fever should be identified accurately.
Melikoglu Meltem A et al. International journal of rheumatic diseases 2017 Dec 20(12) 2118-2121 -
Personalized medicine in diabetic kidney disease: a novel approach to improve trial design and patient outcomes.
Idzerda Nienke M A et al. Current opinion in nephrology and hypertension 2018 Aug -
Genetic susceptibility to delayed graft function following kidney transplantation: a systematic review of the literature.
Huart Justine et al. Clinical kidney journal 2018 Aug 11(4) 586-596 -
Genetic Susceptibility to Neurodegeneration in Amazon: Apolipoprotein E Genotyping in Vulnerable Populations Exposed to Mercury.
Arrifano Gabriela P F et al. Frontiers in genetics 2018 9285 -
Single-subject classification of presymptomatic frontotemporal dementia mutation carriers using multimodal MRI.
Feis Rogier A et al. NeuroImage. Clinical 2018 20188-196 -
Return of individual results in epilepsy genomic research: A view from the field.
Ottman Ruth et al. Epilepsia 2018 Aug -
Validation of Ultrasensitive Mutant Huntingtin Detection in Human Cerebrospinal Fluid by Single Molecule Counting Immunoassay.
Fodale Valentina et al. Journal of Huntington's disease 2017 6(4) 349-361
Ethics/Policy/Law
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Gene-silencing technology gets first drug approval after 20-year wait.
Ledford Heidi, et al. Nature 2018 0 0. (7718) 291-292 -
Delivering Patient Data to Patients Themselves.
Ancker Jessica S et al. EGEMS (Washington, DC) 2018 Jun 6(1) 16 -
Introduction: the why and whither of genomic data sharing.
Knoppers B M et al. Human genetics 2018 Aug -
Effort to Diversify Medical Research Raises Thorny Questions of Race
M Miller, Scientific American, August 10, 2018 -
Including ELSI research questions in newborn screening pilot studies.
Goldenberg Aaron J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Biobanks and the Moral Concerns of Donors: A Democratic Deliberation.
De Vries Raymond G et al. Qualitative health research 2018 Aug 1049732318791826 -
Development of Plain Language Supplemental Materials for the Biobank Informed Consent Process.
Drake Bettina F et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2017 Dec 32(4) 836-844
Practice
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The promise of personalized medicine is not for everyone,
The Conversation, August 13, 2018 -
Framework for Using Risk Stratification to Improve Clinical Preventive Service Guidelines.
Lin Jennifer S et al. American journal of preventive medicine 2018 Jan 54(1S1) S26-S37 -
The Next Phase of Human Gene-Therapy Oversight.
Collins Francis S et al. The New England journal of medicine 2018 Aug -
Genetic Testing in Endocrinology.
De Sousa Sunita Mc et al. The Clinical biochemist. Reviews 2018 Feb 39(1) 17-28 -
Towards precision medicine.
Bardakjian Tanya et al. Handbook of clinical neurology 2018 14793-102 -
Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.
Worthey Elizabeth A et al. Current protocols in human genetics 2017 Oct 959.24.1-9.24.28 -
Can Genetic Risk Scores Score a Win for Precision Prevention? Time and Rigorous Studies Will Tell
MJ Khoury, CDC blog, 2018 -
The promise of genes for understanding cause and effect.
Conley Dalton et al. Proceedings of the National Academy of Sciences of the United States of America 2018 115(22) 5626-5628 -
Generation and Implementation of a Patient-Centered and Patient-Facing Genomic Test Report in the EHR.
Goehringer Jessica M et al. EGEMS (Washington, DC) 2018 Jun 6(1) 14 -
A Model for Genome-First Care: Returning Secondary Genomic Findings to Participants and Their Healthcare Providers in a Large Research Cohort.
Schwartz Marci L B et al. American journal of human genetics 2018 Jul -
Mendelian Randomization International Conference
Mendelian Randomization MRC Integrative Epidemiology Unit, Bristol, UK, July 17-19, 2019 -
Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities.
Thong Meow-Keong et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies.
Scherr Courtney L et al. Healthcare (Basel, Switzerland) 2018 Aug 6(3) -
Precision Medicine: Familiarity, Perceived Health Drivers, and Genetic Testing Considerations Across Health Literacy Levels in a Diverse Sample.
Williams Jessica R et al. Journal of genetic counseling 2018 Aug -
What education, background, and credentials are required to provide genetic counseling?
O'Brien Barbara M et al. Seminars in perinatology 2018 Jul -
Considerations in initiating genomic screening programs in health care systems.
Williams Janet K et al. Nursing outlook 2018 Jul -
Towards diversity in genomics: The emergence of neurogenomics in Africa?
Quansah Emmanuel et al. Genomics 2018 110(1) 1-9 -
CharGer: Clinical Characterization of Germline Variants.
Scott Adam D et al. Bioinformatics (Oxford, England) 2018 Aug -
Predicting risk for common deadly diseases from millions of genetic variants
K Zusi, Broad Institute, August 13, 2018 -
Amount of Genetics Education is Low Among Didactic Programs in Dietetics.
Beretich Kaitlan et al. Journal of allied health 2017 46(4) 262-268 -
What is Mendelian Randomization and How Can it be Used as a Tool for Medicine and Public Health? Opportunities and Challenges
CDC- NIH Public Health Genomics Webinar, November 27, 2018 -
35 Years & Growing: Personal Stories of Patient Advocacy
National Organization for Rare Diseases, 2018 -
CRISPR in Sub-Saharan Africa: Applications and Education.
Ogaugwu Christian E et al. Trends in biotechnology 2018 Aug -
Effects of Genetic Counselor Self-Disclosure: an Experimental Analog Study.
Volz Brianna et al. Journal of genetic counseling 2018 Aug -
Special issue on "Genomics for future medicine".
Chung Yeun-Jun et al. Experimental & molecular medicine 2018 Aug 50(8) 95 -
Genetic testing and counselling.
Liang R et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Aug 24(4) 328-329 -
Multigene test may find risk for heart disease, diabetes and breast cancer
Associated Press, August 13, 2018 -
Precision Public Health and Genomic Medicine
Healthcare special supplement, 2018 -
Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population.
Bauer Peter et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe.
Malentacchi Francesca et al. Drug metabolism and personalized therapy 2015 Jun 30(2) 121-8
Heart, Lung, Blood and Sleep Diseases
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Clues to Your Health Are Hidden at 6.6 Million Spots in Your DNA
With a sophisticated new algorithm, scientists have found a way to forecast an individuals risks for five deadly diseases.
G Kolata, New York Times, August 13, 2018 -
Local Woman Crusades Against a Hidden Killer Which Science Now Makes Easier to Detect- Pasadena Group touts early detection of a genetic mutation which turns out to be among the most common genetic causes of heart disease
B Day et al, Pasadena Now, August 9, 2018 -
Factor IX Gene (F9) Genotyping Trends and Spectrum of Mutations Identified: A Reference Laboratory Experience.
Perez Botero Juliana et al. Seminars in thrombosis and hemostasis 2018 Apr 44(3) 287-292 -
Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
Llaudet-Planas E et al. International journal of laboratory hematology 2018 Feb 40(1) 94-102 -
Factor XIII deficiency diagnosis: Challenges and tools.
Karimi M et al. International journal of laboratory hematology 2018 Feb 40(1) 3-11 -
Genetics of hypertrophic cardiomyopathy: A review of current state.
Sabater-Molina M et al. Clinical genetics 2018 Jan 93(1) 3-14 -
Combined study of ADAMTS13 and complement genes in the diagnosis of thrombotic microangiopathies using next-generation sequencing.
Fidalgo Teresa et al. Research and practice in thrombosis and haemostasis 2017 Jul 1(1) 69-80 -
Effectiveness of a comprehensive educational programme for Accredited Social Health Activists (ASHAs) to identify individuals in the Udupi district with bleeding disorders: A community-based survey.
Badagabettu S et al. Haemophilia : the official journal of the World Federation of Hemophilia 2018 Aug -
Genetics of Dilated Cardiomyopathy: Clinical Implications.
Paldino A et al. Current cardiology reports 2018 Aug 20(10) 83 -
The Cardiovascular Burden of Undiagnosed Familial Hypercholesterolemia: Need to Modify Guidelines to Encourage Earlier Diagnosis and Therapy.
McPherson Ruth et al. The Canadian journal of cardiology 2018 Jul -
Clinical Course and Management of Hypertrophic Cardiomyopathy.
Maron Barry J et al. The New England journal of medicine 2018 Aug 379(7) 655-668 -
They Thought Hemophilia Was a Lifelong Thing. They May Be Wrong.
Experimental gene therapies have yielded promising results in early trials. But the drugs have left some patients wary, worried that success will not last.
G Kolata, New York Times, August 13, 2018 -
Family History of Cardiovascular Disease: How Detailed Should It Be?
Bittencourt Márcio Sommer et al. Mayo Clinic proceedings 2018 Aug -
Physical activity restriction for children and adolescents diagnosed with an inherited arrhythmia or cardiomyopathy and its impact on body mass index.
Christian Susan et al. Journal of cardiovascular electrophysiology 2018 Aug -
Hypertrophic Cardiomyopathy Genotype Prediction Models in a Pediatric Population.
Newman Randa et al. Pediatric cardiology 2018 Apr 39(4) 709-717 -
Targeted Next-Generation Sequencing in Patients with Non-syndromic Congenital Heart Disease.
Pulignani Silvia et al. Pediatric cardiology 2018 Apr 39(4) 682-689 -
Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoin.
Tomlinson B et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Aug 24(4) 408-415 -
RNA Therapeutics in Cardiovascular Precision Medicine.
Laina Ageliki et al. Frontiers in physiology 2018 9953 -
A Harvard Scientist Thinks He Has a Gene Test for Heart Attack Risk. He Wants to Give It Away Free.
M Herper, Forbes, August 13, 2018 -
Gene-Based Risk Stratification for Cardiac Disorders in LMNA Mutation Carriers.
Nishiuchi Suguru et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) -
The Gene Therapy Resource Program: A Decade of Dedication to Translational Research by the National Heart, Lung, and Blood Institute.
Flotte Terence R et al. Human gene therapy. Clinical development 2017 Dec 28(4) 178-186
Newborn Screening
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The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein Melissa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Paradigm shifts in newborn screening?
Comeau Anne Marie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Biochemical characteristics of newborns with carnitine transporter defect identified by newborn screening in California.
Gallant N M et al. Molecular genetics and metabolism 2017 Nov 122(3) 76-84
Pharmacogenomics
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Cost Effectiveness of Genotype-Guided Warfarin Dosing in Patients with Mechanical Heart Valve Replacement Under the Fee-for-Service System.
Kim Dong-Jin et al. Applied health economics and health policy 2017 Oct 15(5) 657-667 -
A pharmacogenetics approach to pain management.
Yoshida Kaori et al. Neuropsychopharmacology reports 2018 Mar 38(1) 2-8 -
Impact of CYP2C19 Polymorphism on Antiplatelet Potency of Prasugrel 5 and 10 mg Daily Maintenance.
Li JiaXin et al. Cardiology 2018 Aug 140(3) 155-162 -
Strategies for Avoiding Benzopyrone Hepatotoxicity in Lymphedema Management-The Role of Pharmacogenetics, Metabolic Enzyme Gene Identification, and Patient Selection.
Hu Minhao et al. Lymphatic research and biology 2017 Dec 15(4) 317-323 -
Pharmacogenomics: How genetic testing is making therapeutics safer and more effective.
Dunbar Sherry et al. MLO: medical laboratory observer 2016 48(10) 34, 37 -
Population pharmacogenetics and global health.
LLerena Adrián et al. Drug metabolism and personalized therapy 2015 Jun 30(2) 73-4
Reproductive Health
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Current status and future prospects of noninvasive preimplantation genetic testing for aneuploidy.
Fragouli Elpida et al. Fertility and sterility 2018 Aug 110(3) 408-409 -
Fertility preservation in BRCA-mutated women: when and how?
Grynberg Michaël et al. Future oncology (London, England) 2018 Feb 14(5) 483-490 -
The Use of a Game-Based Decision Aid to Educate Pregnant Women about Prenatal Screening: A Randomized Controlled Study.
Rothwell Erin et al. American journal of perinatology 2018 Aug -
Performance of prenatal screening using maternal serum and ultrasound markers for Down syndrome in Chinese women: a systematic review and meta-analysis.
Tu S et al. BJOG : an international journal of obstetrics and gynaecology 2016 Sep 123 Suppl 312-22 -
The pros and cons of preimplantation genetic testing for aneuploidy: clinical and laboratory perspectives.
Rosenwaks Zev et al. Fertility and sterility 2018 Aug 110(3) 353-361 -
Is preimplantation genetic testing for aneuploidy an essential tool for embryo selection or a costly 'add-on' of no clinical benefit?
Rosenwaks Zev et al. Fertility and sterility 2018 Aug 110(3) 351-352 -
Non-Invasive Prenatal Testing (NIPT) in Arkansas: Prenatal Genetics Clinic Experience and Lessons Learned.
Barrinqer Shannon N et al. The Journal of the Arkansas Medical Society 2016 113(2) 38-40, 42 -
Current methods for preimplantation genetic diagnosis.
Liss Joanna et al. Ginekologia polska 2016 87(7) 522-6