Published on 04/26/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia.
Thompson Alexis A et al. The New England journal of medicine 2018 378(16) 1479-1493 -
Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation.
Jaeken Jaak et al. European journal of human genetics : EJHG 2018 Apr -
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama Mélanie et al. European journal of human genetics : EJHG 2018 Apr -
The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.
Mei Davide et al. Molecular diagnosis & therapy 2017 Aug 21(4) 357-373 -
[Genetic heterogeneity and complexity of congenital heart defects].
Nagy Dóra et al. Orvosi hetilap 2018 Apr 159(17) 661-670 -
Minor operations: Genetic testing for children and adolescents presents complex ethical issues
L Beil, Genome Magazine, Apr 2018 -
A Qualitative Analysis of the Information Needs of Parents of Children with Cystic Fibrosis prior to First Admission.
Fixter Vera et al. Journal of pediatric nursing 34e29-e33 -
Autistic children may inherit DNA mutations from their fathers
M Warren, Science, Apr 19, 2018 -
A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort.
Downie Lilian et al. BMJ paediatrics open 2017 1(1) e000119 -
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
Han Jinu et al. Molecular vision 2017 23649-659 -
Protein therapy in the womb overrides genetic glitch hampering teeth development, ability to sweat
R Lewis, Genetic Literacy Project, Apr 25, 2018 -
Gene Therapy as a Curative Option for β-Thalassemia.
Biffi Alessandra et al. The New England journal of medicine 2018 378(16) 1551-1552 -
Gene therapy helps patients avoid blood transfusion, study says
CNN, Apr 19, 2018 -
Infinitesimal Odds: A Scientist Finds Her Childs Rare Illness Stems From the Gene She Studies
P Belluck, NY Times, Apr 23, 2018 -
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider Holm et al. The New England journal of medicine 2018 Apr 378(17) 1604-1610 -
Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON).
Martins Fábio Tadeu Arrojo et al. Molecular vision 2017 23495-503 -
Global burden of genetic disease and the role of genetic screening.
Verma I C et al. Seminars in fetal & neonatal medicine 2015 Oct 20(5) 354-63 -
Use of Genetic Testing for Primary Immunodeficiency Patients.
Heimall Jennifer R et al. Journal of clinical immunology 2018 Apr -
FMR1 CGG repeat expansion mutation detection and linked haplotype analysis for reliable and accurate preimplantation genetic diagnosis of fragile X syndrome.
Rajan-Babu Indhu-Shree et al. Expert reviews in molecular medicine 2017 Jul 19e10 -
Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India.
Venkatesh Sowmya Devatha et al. Journal of genetics 2018 Mar 97(1) 219-224
Cancer
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Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry.
Feng Ye et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Jul 26(7) 1016-1026 -
Interest and Attitudes of Patients With Advanced Cancer With Regard to Secondary Germline Findings From Tumor Genomic Profiling.
Hamilton Jada G et al. Journal of oncology practice 2017 Jul 13(7) e590-e601 -
Diagnostic Distinction of Malignant Melanoma and Benign Nevi by a Gene Expression Signature and Correlation to Clinical Outcomes.
Ko Jennifer S et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Jul 26(7) 1107-1113 -
Prevalence and Spectrum of BRCA1/2 Germline Mutations in Women with Breast Cancer in China Based on Next-Generation Sequencing.
Liang Yi et al. Medical science monitor : international medical journal of experimental and clinical research 2018 Apr 242465-2475 -
What Does This Mutation Mean? The Tools and Pitfalls of Variant Interpretation in Lymphoid Malignancies.
Yann Guillermin et al. International journal of molecular sciences 2018 Apr 19(4) -
Utilization of the 21-Gene Recurrence Score in a Diverse Breast Cancer Patient Population: Development of a Clinicopathologic Model to Predict High-Risk Scores and Response to Neoadjuvant Chemotherapy.
Park Ko Un et al. Annals of surgical oncology 2018 Apr -
Biomarkers in prostate cancer - Current clinical utility and future perspectives.
Kretschmer Alexander et al. Critical reviews in oncology/hematology 2017 Dec 120180-193 -
BRCA to the future: towards best testing practice in the era of personalised healthcare.
Capoluongo Ettore et al. European journal of human genetics : EJHG 2016 24 Suppl 1S1-2 -
New Ads From Former Smokers
CDC Tips Campaign, 2018 -
Blood free-circulating DNA testing by highly sensitive methylation assay to diagnose colorectal neoplasias.
Suehiro Yutaka et al. Oncotarget 2018 Mar 9(24) 16974-16987 -
Genomic and Bioinformatics Approaches for Analysis of Genes Associated With Cancer Risks Following Exposure to Tobacco Smoking.
Al-Obaide Mohammed A I et al. Frontiers in public health 2018 684 -
Personalized Tumor Vaccine Shows Promise in Advanced Ovarian Cancer
ASCO Post, Apr 23, 2018 -
GGDonto ontology as a knowledge-base for genetic diseases and disorders of glycan metabolism and their causative genes.
Solovieva Elena et al. Journal of biomedical semantics 2018 Apr 9(1) 14 -
Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.
Renault Anne-Laure et al. Breast cancer research : BCR 2018 Apr 20(1) 28 -
Precision medicine against ALK-positive non-small cell lung cancer: beyond crizotinib.
Ricciuti Biagio et al. Medical oncology (Northwood, London, England) 2018 Apr 35(5) 72 -
Germline variants in pancreatic cancer patients with a personal or family history of cancer fulfilling the revised Bethesda guidelines.
Ohmoto Akihiro et al. Journal of gastroenterology 2018 Apr -
Chilean Gastric Cancer Task Force: A study protocol to obtain a clinical and molecular classification of a cohort of gastric cancer patients.
Owen Gareth I et al. Medicine 2018 Apr 97(16) e0419 -
Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.
Le Stephanie et al. Dermatology online journal 2017 Nov 23(11) -
Assessment of the interlaboratory variability and robustness of JAK2V617F mutation assays: A study involving a consortium of 19 Italian laboratories.
Perricone Margherita et al. Oncotarget 2017 May 8(20) 32608-32617 -
Defining optimal cutoff value of MGMT promoter methylation by ROC analysis for clinical setting in glioblastoma patients.
Yuan Guoqiang et al. Journal of neuro-oncology 2017 May 133(1) 193-201 -
Follow NICE guidance and test for Lynch,
by Asha Kaur, the Hippocratic Post, April 23, 2018 -
A cancer drug tailored to your tumor? Experts trade barbs over precision oncology
J Kaiser, Science, Apr 24, 2018 -
Hereditary renal cell carcinoma syndromes: diagnosis, surveillance and management.
Maher Eamonn R et al. World journal of urology 2018 Apr -
Hormone Replacement Therapy After Oophorectomy and Breast Cancer Risk Among BRCA1 Mutation Carriers.
Kotsopoulos Joanne, et al. JAMA oncology 2018 4 0. -
Malignant Abnormalities in Male BRCA Mutation Carriers: Results From a Prospectively Screened Cohort.
Mano Roy, et al. JAMA oncology 2018 6 0. (6) 872-874 -
Tumor development in Japanese patients with Lynch syndrome.
Saita Chiaki et al. PloS one 2018 13(4) e0195572 -
BRCA mutation carrier detection. A model-based cost-effectiveness analysis comparing the traditional family history approach and the testing of all patients with breast cancer.
Norum Jan et al. ESMO open 2018 3(3) e000328 -
Identification and Validation of a Diagnostic and Prognostic Multi-Gene Biomarker Panel for Pancreatic Ductal Adenocarcinoma.
Klett Hagen et al. Frontiers in genetics 2018 9108 -
Tissue recommendations for precision cancer therapy using next generation sequencing: a comprehensive single cancer center's experiences.
Cho Minho et al. Oncotarget 2017 Jun 8(26) 42478-42486 -
Detection of oncogenic mutations in resected bronchial margins by next-generation sequencing indicates early relapse in stage IA lung adenocarcinoma patients.
Lv Tangfeng et al. Oncotarget 2017 Jun 8(25) 40643-40653 -
The associations of genetic polymorphisms in CYP1A2 and CYP3A4 with clinical outcomes of breast cancer patients in northern China.
Bai Xianan et al. Oncotarget 2017 Jun 8(24) 38367-38377 -
KRAS mutation testing on all non-malignant diagnosis of pancreatic endoscopic ultrasound-guided fine-needle aspiration biopsies improves diagnostic accuracy.
Trisolini Elena et al. Pathology 2017 Jun 49(4) 379-386 -
Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: a systematic review and meta-analysis.
Anele C C et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2017 Jun 19(6) 528-536 -
Mutation-Enrichment Next-Generation Sequencing for Quantitative Detection of KRAS Mutations in Urine Cell-Free DNA from Patients with Advanced Cancers.
Fujii Takeo et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(14) 3657-3666 -
Deep Sequencing of Urinary RNAs for Bladder Cancer Molecular Diagnostics.
Sin Mandy L Y et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul 23(14) 3700-3710 -
Genetic testing for hereditary prostate cancer: Current status and limitations.
Zhen Jun Tu et al. Cancer 2018 Apr -
Patient HLA class I genotype influences cancer response to checkpoint blockade immunotherapy.
Chowell Diego et al. Science (New York, N.Y.) 2018 359(6375) 582-587 -
Improving the detection of patients with inherited predispositions to hematologic malignancies using next-generation sequencing-based leukemia prognostication panels.
DiNardo Courtney D et al. Cancer 2018 Apr -
Personalized vaccines for cancer immunotherapy.
Sahin Ugur et al. Science (New York, N.Y.) 2018 Mar 359(6382) 1355-1360
Chronic Disease
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Genetics of common complex diseases: a view from Iceland.
Arnar David O et al. European journal of internal medicine 2017 Jun 413-9 -
Whole Exome Sequencing in 20,197 Persons for Rare Variants in Alzheimer Disease
NS Raghavan et al, BioRXIV, Apr 20, 2018 -
Genetic tests in major psychiatric disorders-integrating molecular medicine with clinical psychiatry-why is it so difficult?
Demkow U et al. Translational psychiatry 2017 7(6) e1151 -
Maturity onset diabetes of the young due to HNF1A variants in Croatia.
Pavic Tamara et al. Biochemia medica 2018 Jun 28(2) 020703
Ethics/Policy/Law
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A welcome framework for research in Africa.
et al. Nature 2018 Apr 556(7701) 274 -
Public variant databases: liability?
Thorogood Adrian et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul 19(7) 838-841 -
Ethics of Genomic Data Sharing: An Interview with Bartha Maria Knoppers
Global Alliance for Genomics and Health, Apr 2018
Practice
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Will precision medicine improve population health? Yes, if
.
M Khoury, Slide Presentation, University of Utah, Mar 2018 -
Delivering on the value proposition of precision medicine: the view from healthcare payers.
Kogan Jane Null et al. The American journal of managed care 2018 Apr 24(4) 177-179 -
Social Context: Fostering an appreciation for what our DNA means for our health, our identities and our culture
NHGRI, Apr 25, 2018 -
Advancing precision medicine in healthcare: addressing implementation challenges to increase pharmacogenetic testing in the clinical setting.
Dong Olivia M et al. Physiological genomics 2017 Jul 49(7) 346-354 -
Health Care Providers Can't Afford To Ignore Direct-To-Consumer Genetic Testing
E Matloff, Forbes, Apr 25, 2018 -
Public perceptions of personalised nutrition through the lens of Social Cognitive Theory.
Rankin Audrey et al. Journal of health psychology 2017 Sep 22(10) 1233-1242 -
Resources and information about the impact of the Racial and Ethnic Approaches to Community Health (REACH) program
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The role of cost-effectiveness analysis in precision medicine and public health genomics.
S Grosse, CDC slide presentation, Mar 2018 -
The Code is a three-part video series investigating the roots of todays most promising genetic technologies
S Begley, StatNews, Apr 2018 -
At-Home Genetic Testing Is Blurring Lines Between Patient and Consumer
E Glowatz, Newsweek, Apr 24, 2018 -
DNA Day contest: Congratulations to our winners and thank you all for participating. Happy DNA Day!
ASHG, Apr 25, 2018 -
How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
R Schwiter et al. Curr Genet Med Rep, Apr 2018 -
Toward a Personal Biomap
J Shaw, Harvard Magazine, Spring, 2018 -
Direct-to-Consumer Genomic Testing- Accessing information about your genome from your home
NHGRI, Apr 20, 2018 -
Epigenetics: the first 25 centuries.
Ganesan A, et al. Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2018 6 0. (1748) -
Global Biobank Engine: enabling genotype-phenotype browsing for biobank summary statistics
G McInnes et al, BioRXIV, Apr 22, 2018 -
[Genomic medicine : the challenges of information in clinical practice].
Guessous Idris et al. Revue medicale suisse 2016 Nov 12(537) 1838-1844 -
An Assessment of Family History Information Captured in an Electronic Health Record.
Polubriaginof Fernanda et al. AMIA ... Annual Symposium proceedings. AMIA Symposium 2015 20152035-42 -
Celebrate DNA Day 2018 with ASHG
J Cody, ASHG, Apr 25, 2018 -
23andMe Test Opens Conversations, Highlights Need for Genetic Counselors,
by Kristie L. Kahl, Cure, April 23, 2018 -
Stages of behavioural change after direct-to-consumer disease risk profiling: study protocol of two integrated controlled pragmatic trials.
Stewart Kelly F J et al. Trials 2018 Apr 19(1) 240 -
The economic case for precision medicine.
Gavan Sean P et al. Expert review of precision medicine and drug development 2018 3(1) 1-9 -
'15 for 15' Celebration- Fifteen ways genomics is now influencing our world
NHGRI, Apr 2018 -
Genetic counseling in industry settings: Opportunities in the era of precision health.
McWalter Kirsty et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar 178(1) 46-53 -
Genetic counselors as social and behavioral scientists in the era of precision medicine.
Biesecker Barbara B et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Mar 178(1) 10-14 -
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease.
Dilliott Allison A et al. Journal of visualized experiments : JoVE 2018 Apr (134) -
Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Sirchia Fabio et al. European journal of human genetics : EJHG 2018 Apr -
The Lifespan of Genetic Testing.
DeFilippis Ersilia M et al. The American journal of medicine 2018 Apr -
Genome Editing- Altering a genome with unparalleled efficiency and precision.
NHGRI, Apr 24, 2018 -
Broad Institute to sequence its 100,000th whole human genome on National DNA Day
Broad Institute, Apr 24, 2018 -
Challenges in Design and Creation of Genetic openEHR-Archetype.
Maranhão Priscila A et al. Studies in health technology and informatics 2018 247835-839
Heart, Lung, Blood and Sleep Diseases
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Notice of Intent to Publish a Funding Opportunity Announcement for Rare Disease Cohorts in Heart, Lung, Blood and Sleep Disorders
NHLBI, Apr 2018 -
The 2018 Global FH Summit focuses on implementation science
The FH Foundation, Oct 1-2, 2018 -
The genetics underlying acquired long QT syndrome: impact for genetic screening.
Itoh Hideki et al. European heart journal 2016 May 37(18) 1456-64 -
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.
Benn Marianne et al. European heart journal 2016 37(17) 1384-94
Newborn Screening
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Newborn Screening for Lysosomal Storage Disorders.
Anderson Sharon et al. Journal of pediatric health care : official publication of National Association of Pediatric Nurse Associates & Practitioners 32(3) 285-294 -
Decoding your baby's DNA: It can be done. But should it be?
S Karlamangla, LA Times, Apr 21, 2018 -
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
Hong Xinying et al. Molecular genetics and metabolism 2018 Mar
Pharmacogenomics
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Pharmacogenomic information in the Warning section of drug labels: A comparison between labels in the United States and those in five other countries/regions.
Imatoh T et al. Journal of clinical pharmacy and therapeutics 2018 Apr -
SLCO1B1 Polymorphism Is a Drug Response Predictive Marker for Advanced Pancreatic Cancer Patients Treated With Gemcitabine, S-1, or Gemcitabine Plus S-1.
Sato Yasunori et al. Pancreas 2018 Apr -
Pharmacogenetics-based area-under-curve model can predict efficacy and adverse events from axitinib in individual patients with advanced renal cell carcinoma.
Yamamoto Yoshiaki et al. Oncotarget 2018 Mar 9(24) 17160-17170 -
Ten Years' Experience with the CYP2D6 Activity Score: A Perspective on Future Investigations to Improve Clinical Predictions for Precision Therapeutics.
Gaedigk Andrea et al. Journal of personalized medicine 2018 Apr 8(2) -
Community Dissemination in a Tribal Health Setting: A Pharmacogenetics Case Study.
Beans Julie A et al. American Indian and Alaska native mental health research (Online) 2018 25(1) 80-94 -
Implementing Pharmacogenomic Clinical Decision Support into German Hospitals.
Hinderer Marc et al. Studies in health technology and informatics 2018 247870-874
Reproductive Health
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Views of parents of children with sickle cell disease on pre-implantation genetic diagnosis.
Darbari Isha et al. Pediatric blood & cancer 2018 Apr e27102 -
Clinical experience with multigene carrier panels in the reproductive setting.
Terhaar Catherine et al. Prenatal diagnosis 2018 Apr -
Is carriership of a balanced translocation or inversion an indication for non-invasive prenatal testing?
Srebniak Malgorzata I et al. Expert review of molecular diagnostics 2018 Apr -
Pharmacogenetics of G-protein-coupled receptors variants: FSH receptor and infertility treatment.
Santi Daniele et al. Best practice & research. Clinical endocrinology & metabolism 2018 Apr 32(2) 189-200 -
The value of cytogenetic analysis of the product of conception before preimplantation genetic screening.
Vialard François et al. Human reproduction (Oxford, England) 2017 32(2) 477-478 -
Reply: The value of cytogenetic analysis of the product of conception before preimplantation genetic screening.
Murugappan Gayathree et al. Human reproduction (Oxford, England) 2017 32(2) 479-480 -
Prenatal screening for genetic disorders: Suggested guidelines for the Indian Scenario.
Phadke Shubha R et al. The Indian journal of medical research 2017 Dec 146(6) 689-699 -
Should Premarital Screening for Blood Disorders be an Obligatory Measure in Oman?
Al-Balushi Amal A et al. Sultan Qaboos University medical journal 2018 Feb 18(1) e24-e29