Published on 10/04/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Mannino Elizabeth A et al. American journal of medical genetics. Part A 2018 Oct -
European guidelines for constitutional cytogenomic analysis.
Silva Marisa et al. European journal of human genetics : EJHG 2018 Oct -
Variation in the Heritability of Child Body Mass Index by Obesogenic Home Environment.
Schrempft Stephanie, et al. JAMA pediatrics 2018 12 0. (12) 1153-1160 -
A new era of patient focused innovation
NORD, Rare Diseases summit, October 15-16,2018 -
New supplemental awards boost NIH funding for research on Down syndrome
NIH, October 1, 2018 -
Targeted next-generation sequencing facilitates genetic diagnosis and provides novel pathogenetic insights into deafness with enlarged vestibular aqueduct.
Lin Yin-Hung et al. The Journal of molecular diagnostics : JMD 2018 Sep -
Diet and Lifestyle Role in Homocysteine Metabolism in Turner's Syndrome.
Calcaterra Valeria et al. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2018 Oct -
Healthy Homes and Obesogenic Genes in Young Children: Rigorous Behavioral Theory and Measurement and the Detection of Gene-Environment Interactions.
Faith Myles S, et al. JAMA pediatrics 2018 12 0. (12) 1121-1122 -
The impact of consanguinity on the frequency of inborn errors of metabolism.
Afzal Raja Majid et al. Danish medical journal 2018 Oct 65(10) -
Parental Perception and Participation in Genetic Testing Among Children With Autism Spectrum Disorders.
Harrington John W et al. Clinical pediatrics 2018 Sep 9922818803398 -
Genetic profile and clinical application of chromosomal microarray in children with intellectual disability in Hong Kong.
Chan P Yt et al. Hong Kong medical journal = Xianggang yi xue za zhi 2018 Sep -
Quality improvement of clinic flow for complex genetic conditions: Using Ehlers-Danlos syndrome as a model.
Prakash Preeti et al. Molecular genetics & genomic medicine 2018 Sep -
Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice.
Peron Angela et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Sep -
Duchenne Muscular Dystrophy Care Considerations
CDC, September 2018 -
Breathe Duchenne: what natural history studies tell us about the progression of pulmonary morbidity in DMD.
Mayer Oscar H et al. Neuromuscular disorders : NMD 2018 Aug -
The Effect of a Pediatric Rare Disease on Subscriber Retention Rates for Commercial Health Insurers in the United States.
Kuester Melanie K et al. Journal of managed care & specialty pharmacy 2018 Sep 1-9
Cancer
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Comprehensive analysis of the tumor immune micro-environment in non-small cell lung cancer for efficacy of checkpoint inhibitor.
Seo Jeong-Sun et al. Scientific reports 2018 Oct 8(1) 14576 -
Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome.
Palter Vanessa N et al. Annals of surgical oncology 2018 Oct -
Copenhagen Prospective Personalized Oncology (CoPPO) - Clinical utility of using molecular profiling to select patients to phase 1 trials.
Tuxen Ida Viller et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Oct -
Using Advances in Skin Imaging Technology and Genomics for the Early Detection and Prevention of Melanoma.
Janda Monika et al. Dermatology (Basel, Switzerland) 2018 Sep 1-3 -
Trends in genetic screening referral in breast cancer patients under the age of forty: 2001-2016.
Crispin Melanie et al. The breast journal 2018 Sep -
Development and pilot testing of a leaflet informing women with breast cancer about genomic testing for polygenic risk.
Kaur Rajneesh et al. Familial cancer 2018 Sep -
Electronically ascertained extended pedigrees in breast cancer genetic counseling.
Stefansdottir V et al. Familial cancer 2018 Sep -
CRISPR/Cas9 and CAR-T cell, collaboration of two revolutionary technologies in cancer immunotherapy, an instruction for successful cancer treatment.
Mollanoori Hasan et al. Human immunology 2018 Sep -
Optimizing cancer immunotherapy: Is it time for personalized predictive biomarkers?
Music Milena et al. Critical reviews in clinical laboratory sciences 2018 Oct 1-14 -
Systematic Review and Meta-analysis of the Prognostic Significance of miRNAs in Melanoma Patients.
Sabarimurugan Shanthi et al. Molecular diagnosis & therapy 2018 Sep -
Risk perception and screening behavior of Filipino women at risk for breast cancer: implications for cancer genetic counseling.
Lagarde John Benedict B et al. Journal of community genetics 2018 Sep -
The Influence of Malay Cultural Beliefs on Breast Cancer Screening and Genetic Testing: A Focus Group Study.
Shaw Tarryn et al. Psycho-oncology 2018 Sep -
Experience Gained from the Development and Execution of a Multidisciplinary Multi-syndrome Hereditary Colon Cancer Family Conference.
Solomon Ilana et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2018 Sep -
Comprehensive Analysis of Germline Variants in Mexican Patients with Hereditary Breast and Ovarian Cancer Susceptibility.
Quezada Urban Rosalía et al. Cancers 2018 Sep 10(10) -
Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.
Rusch Michael et al. Nature communications 2018 Sep 9(1) 3962 -
Profiling DNA Methylation Based on Next-Generation Sequencing Approaches: New Insights and Clinical Applications.
Barros-Silva Daniela et al. Genes 2018 Aug 9(9) -
Molecular Testing in EBUS-TBNA Specimens of Lung Adenocarcinoma: A Study of Concordance Between Cell Block Method and Liquid-Based Cytology in Appraising Sample Cellularity and EGFR Mutations.
Magnini Daniele et al. Molecular diagnosis & therapy 2018 Oct -
High prevalence of Hereditary Cancer Syndromes and Outcomes in Adults with Early-Onset Pancreatic Cancer.
Bannon Sarah A et al. Cancer prevention research (Philadelphia, Pa.) 2018 Oct -
Non-invasive detection of actionable mutations in advanced non-small-cell lung cancer using targeted sequencing of circulating tumor DNA.
Sim Wey Cheng et al. Lung cancer (Amsterdam, Netherlands) 2018 Oct 124154-159 -
Hotspot Mutations Detectable by Next-generation Sequencing in Exhaled Breath Condensates from Patients with Lung Cancer.
Youssef Omar et al. Anticancer research 2018 Oct 38(10) 5627-5634 -
Precision medicine based on tumorigenic signaling pathways for triple-negative breast cancer.
Wu Nan et al. Oncology letters 2018 Oct 16(4) 4984-4996 -
Genetics of breast cancer in African populations: a literature review.
Abbad A et al. Global health, epidemiology and genomics 2018 3e8 -
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
Zuntini Roberta et al. Frontiers in genetics 2018 9378 -
Do cancer biomarkers make targeted therapies cost-effective? A systematic review in metastatic colorectal cancer.
Seo Mikyung Kelly et al. PloS one 2018 13(9) e0204496 -
ACOG Committee Opinion No. 755: Well-Woman Visit.
et al. Obstetrics and gynecology 2018 Oct 132(4) e181-e186 -
Incomplete uptake of EGFR mutation testing and its impact on estimation of mutation prevalence in patients with non-squamous NSCLC: A population-based study in New Zealand.
Tin Tin Sandar et al. Cancer epidemiology 2018 Sep 5724-32 -
Therapeutic Strategies in EGFR Mutant Non-Small Cell Lung Cancer.
Loong Herbert H et al. Current treatment options in oncology 2018 Sep 19(11) 58 -
Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
Gould Genevieve M et al. BMC medical genetics 2018 Sep 19(1) 176 -
Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma.
Walker Evan J et al. Familial cancer 2018 Sep -
CDKN2A germline mutations are not associated with poor survival in an Italian cohort of melanoma patients.
Dalmasso Bruna et al. Journal of the American Academy of Dermatology 2018 Sep -
The Effect of Cancer Treatments on Telomere Length: A Systematic Review of the Literature.
Gallicchio Lisa et al. Journal of the National Cancer Institute 2018 Sep -
Precision medicine in oncology: what is it exactly and where are we?
Le Tourneau Christophe et al. Personalized medicine 2018 Sep -
Cell-Free DNA Methylation of Selected Genes Allows for Early Detection of the Major Cancers in Women.
Nunes Sandra P et al. Cancers 2018 Sep 10(10) -
Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria.
Hoyer Juliane et al. BMC cancer 2018 Sep 18(1) 926 -
Next-generation sequencing for JAK2 mutation testing: advantages and pitfalls.
Maslah Nabih et al. Annals of hematology 2018 Sep -
A Privacy Work-Around for Hereditary Cancer Testing
N Mulcahe, Medscape, September 25, 2018 -
Cancer prevention: Molecular and epidemiologic consensus
M Song et al, Science, September 27, 2018 -
N2M2 (NOA20) phase I/II trial of molecularly matched targeted therapies plus radiotherapy in patients with newly diagnosed non-MGMT hypermethylated glioblastoma.
Wick Wolfgang et al. Neuro-oncology 2018 Oct -
Understanding molecular diagnostic technology in oncology through the lens of lung cancer.
Jonna Sushma et al. Discovery medicine 2018 Aug 26(141) 21-29 -
Distribution and Clinical Utility of the 21-gene Recurrence Score in Pure Mucinous Breast Cancer Patients: a case-control study.
Wang Wei et al. Journal of Cancer 2018 9(18) 3216-3224 -
Women's preferences, willingness-to-pay, and predicted uptake for single-nucleotide polymorphism gene testing to guide personalized breast cancer screening strategies: a discrete choice experiment.
Wong Xin Yi et al. Patient preference and adherence 2018 121837-1852 -
Novel genetic mutations detected by multigene panel are associated with hereditary colorectal cancer predisposition.
Martin-Morales Lorena et al. PloS one 2018 13(9) e0203885 -
The implementation of omics technologies in cancer microbiome research.
Mullish Benjamin H et al. Ecancermedicalscience 2018 12864 -
Clinical outcomes of EGFR kinase domain duplication to targeted therapies in NSCLC.
Wang Jinguang et al. International journal of cancer 2018 Sep -
Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome.
Henriksson Isabelle et al. Journal of community genetics 2018 Sep -
Circulating tumour DNA is a potential biomarker for disease progression and response to targeted therapy in advanced thyroid cancer.
Allin D M et al. European journal of cancer (Oxford, England : 1990) 2018 Sep 103165-175 -
Progress in targeted therapy for breast cancer.
Ju Jie et al. Chronic diseases and translational medicine 2018 Sep 4(3) 164-175 -
Genetic Testing: Do Cancer Care Nurses Have a Role?
Lopez Violeta et al. Asia-Pacific journal of oncology nursing 5(4) 391-393 -
[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
Moretta Jessica et al. Bulletin du cancer 2018 Sep -
The Progress of Next Generation Sequencing in Assessment of Myeloid Malignancies
Öz Puyan Fulya et al. Balkan medical journal 2018 -
Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.
Mersch Jacqueline et al. JAMA 2018 320(12) 1266-1274 -
Treatment patterns and outcomes for patients with advanced melanoma in US oncology clinical practices.
Whitman Eric D et al. Future oncology (London, England) 2018 Sep
Chronic Disease
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One to Watch: Precision Medicine for Obesity
Conscionhealth, September 30, 2018 -
Use of combinatorial pharmacogenomic guidance in treating psychiatric disorders: financial impact on a health plan.
Benitez Joachim et al. Personalized medicine 2018 Sep -
Predicting Functional Outcomes in Early-Stage Mental Illness: Prognostic Precision Medicine Realized?
Voineskos Aristotle N et al. JAMA psychiatry 2018 Sep -
Personalized Proteomics for Precision Health: Identifying Biomarkers of Vitreoretinal Disease.
Velez Gabriel et al. Translational vision science & technology 2018 Sep 7(5) 12 -
Sarcoidosis: proteomics and new perspectives for improving personalized medicine.
Landi Claudia et al. Expert review of proteomics 2018 Sep 1-7
Ethics/Policy/Law
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Patients v. Myriad or the GDPR Access Right v. the EU Database Right.
Bovenberg Jasper A et al. European journal of human genetics : EJHG 2018 Sep -
FDA authorizes first next generation sequencing-based test to detect very low levels of remaining cancer cells in patients with acute lymphoblastic leukemia or multiple myeloma,
FDA, September 28, 2018 -
Reconceptualizing harms and benefits in the genomic age.
Prince Anya Er et al. Personalized medicine 2018 Sep -
Sharing data for future research-engaging participants' views about data governance beyond the original project: a DIRECT Study.
Shah Nisha et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Sep -
Ethical Implications of Clinical Genomic Information, Records Research, and Informed Consent.
Lee Susannah W et al. The Ochsner journal 2018 18(3) 196-198 -
Reducing the Risk of Gynecologic Cancer in Hereditary Breast Ovarian Cancer Syndrome Mutation Carriers: Moral Dilemmas and the Principle of Double Effect.
Casey Murray Joseph et al. The Linacre quarterly 2018 Aug 85(3) 225-240 -
Perspectives of psychiatric investigators and IRB chairs regarding benefits of psychiatric genetics research.
Roberts Laura Weiss et al. Journal of psychiatric research 2018 Sep 10654-60
Practice
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The NHS genomic service could transform medicine
The Economist, September 2018 -
Clinicians Raise Concerns About "Precision" Public Health in the Era of Genomics,
by Laura Ranger, Medical Bag, September 25, 2018 -
Need for Automated Interactive Genomic Interpretation and Ongoing Reanalysis.
Sarmady Mahdi, et al. JAMA pediatrics 2018 12 0. (12) 1113-1114 -
Take a Deep Breath and Say Hi to Your Exposome
Researchers begin to explore the unique cloud of airborne microbes and chemicals that surrounds each of us
Scientific American, September 27, 2018 -
The importance of genetic counselling in genome-wide sequencing.
Elliott Alison M, et al. Nature reviews. Genetics 2018 12 0. (12) 735-736 -
NIH-funded genome centers to accelerate precision medicine discoveries,
NIH, September 25, 2018 -
Evaluating the current state of Mendelian randomization studies: a protocol for a systematic review on methodological and clinical aspects using neurodegenerative disorders as outcome.
Grover Sandeep et al. Systematic reviews 2018 Sep 7(1) 145 -
Too much of a good thing? Overdiagnosis, or overestimating risk in preventive genomic screening.
Meagher Karen M et al. Personalized medicine 2018 Sep -
Precision medicine and clinical ophthalmology.
Straatsma Bradley R et al. Indian journal of ophthalmology 2018 Oct 66(10) 1389-1390 -
The Patient in Precision Medicine: A Systematic Review Examining Evaluations of Patient-Facing Materials.
Wynn Rachel M et al. Journal of healthcare engineering 2018 20189541621 -
Exploring neurologists' perspectives on the return of next generation sequencing results to their patients: a needed step in the development of guidelines.
Hurlimann Thierry et al. BMC medical ethics 2018 Sep 19(1) 81 -
Wellcome Sanger Institute at 25: how the genomic revolution is changing medicine
Wellcome Sanger, September 2018 -
Establishing the Genomic Knowledge Matrix for Nursing Science.
Regan Mary et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2018 Oct -
Direct to Consumer Fitness DNA Testing.
Spencer Emily G, et al. Clinical chemistry 2019 1 0. (1) 45-47 -
Development and application of a rapid and sensitive genotyping method for pharmacogene variants using the single-stranded tag hybridization chromatographic printed-array strip (STH-PAS).
Kumondai Masaki et al. Drug metabolism and pharmacokinetics 2018 Aug -
Genomics research in Africa and its impact on global health: insights from African researchers.
Munung N S et al. Global health, epidemiology and genomics 2018 3e12 -
Personalised Medicine: The Odyssey from Hope to Practice.
Visvikis-Siest Sophie et al. Journal of personalized medicine 2018 Sep 8(4) -
Epigenetics, Resilience, Comorbidity and Treatment Outcome.
Jakovljevic Miro et al. Psychiatria Danubina 2018 Sep 30(3) 242-253 -
Precision medicine for individual patients should use population group averages and larger, not smaller, groups.
Djulbegovic Benjamin et al. European journal of clinical investigation 2018 Sep e13031
Heart, Lung, Blood and Sleep Diseases
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Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital.
Karlsson Torbjörn et al. Upsala journal of medical sciences 2018 Sep 1-5 -
Genetic architecture of recent-onset dilated cardiomyopathy in Moravian region assessed by whole-exome sequencing and its clinical correlates.
Chaloupka Anna et al. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2018 Sep -
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
Klarin Derek et al. Nature genetics 2018 Oct -
Recall by genotype and cascade screening for familial hypercholesterolemia in a population-based biobank from Estonia.
Alver Maris et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct -
Clinical and genetic characteristics of familial hypercholesterolemia patients with type 2 diabetes.
Sun D et al. Journal of endocrinological investigation 2018 Oct -
Improving the global care of familial hypercholesterolaemia: Starting the ball rolling.
Ray Kausik K et al. Atherosclerosis 2018 Oct 277230-233 -
Knowledge, awareness and practice regarding familial hypercholesterolaemia among primary care physicians in Malaysia: The importance of professional training.
Azraii Ahmad Baihaqi et al. Atherosclerosis 2018 Oct 277508-516 -
Latvian registry of familial hypercholesterolemia: The first report of three-year results.
Latkovskis Gustavs et al. Atherosclerosis 2018 Oct 277347-354 -
LDL-cholesterol target achievement in patients with heterozygous familial hypercholesterolemia at Groote Schuur Hospital: Minority at target despite large reductions in LDL-C.
van Delden Xander M et al. Atherosclerosis 2018 Oct 277327-333 -
Treatment pattern of familial hypercholesterolemia in Slovakia: Targets, treatment and obstacles in common practice.
Vohnout Branislav et al. Atherosclerosis 2018 Oct 277323-326 -
Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.
Groselj Urh et al. Atherosclerosis 2018 Oct 277383-391 -
Lipid profile evaluation and severe hypercholesterolaemia screening in the middle-aged population according to nationwide primary prevention programme in Lithuania.
Kutkiene Sandra et al. Atherosclerosis 2018 Oct 277267-272 -
Lipid-modifying therapy and low-density lipoprotein cholesterol goal attainment in patients with familial hypercholesterolemia in Germany: The CaReHigh Registry.
Schmidt Nina et al. Atherosclerosis 2018 Oct 277314-322 -
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral Pablo et al. Atherosclerosis 2018 Oct 277256-261 -
Prevalence of familial hypercholesterolemia in patients with acute coronary syndrome in Japan: Results of the EXPLORE-J study.
Harada-Shiba Mariko et al. Atherosclerosis 2018 Oct 277362-368 -
Epidemiology of familial hypercholesterolaemia: Community and clinical.
Vallejo-Vaz Antonio J et al. Atherosclerosis 2018 Oct 277289-297 -
Special Issue Section: Improving the Global Care of Familial Hypercholesterolaemia : the FHSC Perspective.
Atherosclerosis 2018 Oct -
DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.
Miserez A R et al. Atherosclerosis 2018 Oct 277282-288 -
The effects of 3-year statin therapy and the achievement of LDL cholesterol target values in familial hypercholesterolemia patients: An experience from Serbia.
Lalic Katarina et al. Atherosclerosis 2018 Oct 277298-303 -
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC).
et al. Atherosclerosis 2018 Oct 277234-255 -
A Belgian consensus strategy to identify familial hypercholesterolaemia in the coronary care unit and its subsequent cascade screening and treatment: BEL-FaHST (The BELgium Familial Hypercholesterolaemia STrategy).
Descamps Olivier S et al. Atherosclerosis 2018 Oct 277369-376 -
Establishing a national screening programme for familial hypercholesterolaemia in Lithuania.
Petrulioniene Zaneta et al. Atherosclerosis 2018 Oct 277407-412 -
Burden of familial heterozygous hypercholesterolemia in Uzbekistan: Time is muscle.
Shek Aleksandr et al. Atherosclerosis 2018 Oct 277524-529 -
Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.
Futema Marta et al. Atherosclerosis 2018 Oct 277457-463 -
Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
Alnouri Fahad et al. Atherosclerosis 2018 Oct 277425-433 -
Evaluation of the performance of Dutch Lipid Clinic Network score in an Italian FH population: The LIPIGEN study.
Casula Manuela et al. Atherosclerosis 2018 Oct 277413-418 -
The development of the Mexican Familial Hypercholesterolemia (FH) National Registry.
Mehta Roopa et al. Atherosclerosis 2018 Oct 277517-523 -
Screening for familial hypercholesterolaemia in primary care: Time for general practice to play its part.
Brett Tom et al. Atherosclerosis 2018 Oct 277399-406 -
Health related quality of life in individuals at high risk for familial hypercholesterolemia undergoing genetic cascade screening in Brazil.
Souto Ana Cristina et al. Atherosclerosis 2018 Oct 277464-469 -
Heterozygous familial hypercholesterolaemia in specialist centres in South Africa, Australia and Brazil: Importance of early detection and lifestyle advice.
Pang Jing et al. Atherosclerosis 2018 Oct 277470-476 -
Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.
Truong Thanh Huong et al. Atherosclerosis 2018 Oct 277392-398 -
Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.
Hsiung Yun-Chieh et al. Atherosclerosis 2018 Oct 277440-447 -
Using clinical and genetic data to predict pulmonary hypertension in bronchopulmonary dysplasia.
Trittmann J K et al. Acta paediatrica (Oslo, Norway : 1992) 2018 Sep -
Blood, sweat, and tears: Red Blood Cell-Omics study objectives, design, and recruitment activities.
Endres-Dighe Stacy M et al. Transfusion 2018 Sep -
Familial hypercholesterolemia screening program in Bosnia and Herzegovina and cardiovascular morbidity.
Pojskic Lamija et al. Atherosclerosis 2018 Oct 277278-281 -
Familial hypercholesterolemia treatments: Guidelines and new therapies.
Raal Frederick J et al. Atherosclerosis 2018 Oct 277483-492 -
Precision/Personalized Medicine in Allergic Diseases and Asthma.
Kucuksezer Umut Can et al. Archivum immunologiae et therapiae experimentalis 2018 Sep -
These Cholesterol-Reducers May Save Lives. So Why Arent Heart Patients Getting Them?
G Kolata, NY Times, October 2, 2018 -
Genetic Testing and Familial Hypercholesterolemia
The FH Foundation, 2018 -
Can two-dimensional speckle tracking echocardiography be useful for left ventricular assessment in the early stages of hereditary haemochromatosis?
Rozwadowska Katarzyna et al. Echocardiography (Mount Kisco, N.Y.) 2018 Sep
Newborn Screening
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Reliability of the current newborn screening action value for beta thalassaemia disease detection in England: A prospective study.
Daniel Yvonne et al. Journal of medical screening 2018 Sep 969141318797373 -
Clinical outcomes in U.S. infants with cystic fibrosis from 2001 to 2012.
Hoch Heather et al. Pediatric pulmonology 2018 Sep -
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).
Audrain Marie A P et al. Journal of clinical immunology 2018 Sep -
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
Liao Hsuan-Chieh et al. The Journal of pediatrics 2018 Sep
Pharmacogenomics
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The Implementation Process for Pharmacogenomic Testing for Cancer-Targeted Therapies.
Wu Ann Chen et al. Journal of personalized medicine 2018 Oct 8(4) -
Economic burden of adverse drug reactions and potential for pharmacogenomic testing in Singaporean adults.
Chan Sze Ling et al. The pharmacogenomics journal 2018 Sep -
Pharmacogenomic landscape of patient-derived tumor cells informs precision oncology therapy.
Lee Jin-Ku et al. Nature genetics 2018 Oct 50(10) 1399-1411 -
Pharmacogenetic content of commercial genome-wide genotyping arrays.
Lemieux Perreault Louis-Philippe et al. Pharmacogenomics 2018 Oct -
In the race to use genetic tests to predict whether antidepressants will work, science might be getting left behind
R Robbins, StatNews, September 28, 2018 -
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy: Progress Continues.
Diouf Barthelemy et al. Clinical pharmacology and therapeutics 2018 Sep
Reproductive Health
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Fetal fraction evaluation in non-invasive prenatal screening (NIPS).
Hestand Matthew S et al. European journal of human genetics : EJHG 2018 Sep -
Role of mesenchymal stem cells exosomes derived microRNAs; miR-136, miR-494 and miR-495 in pre-eclampsia diagnosis and evaluation.
Motawi Tarek M K et al. Archives of biochemistry and biophysics 2018 Sep 65913-21 -
Pilot study of expanded carrier screening for 11 recessive diseases in China: results from 10,476 ethnically diverse couples.
Zhao Sumin et al. European journal of human genetics : EJHG 2018 Oct -
The choice for invasive prenatal tests after subfertility.
Hendrix Manouk et al. Human fertility (Cambridge, England) 2018 Sep 1-8 -
"A perfect society"- Swedish policymakers' ethical and social views on preconception expanded carrier screening.
Matar Amal et al. Journal of community genetics 2018 Sep -
Genetic evaluation of patients with non-syndromic male infertility.
Okutman Ozlem et al. Journal of assisted reproduction and genetics 2018 Sep -
Changes in the Detection and Management of Foetal Trisomies over Time.
Prodan Natalia et al. Geburtshilfe und Frauenheilkunde 2018 Sep 78(9) 853-858 -
Population-based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non-invasive prenatal testing.
Howard-Bath Allanah et al. Prenatal diagnosis 2018 Sep