Volume 34 Number 5 February 5-12, 2015
Birth Defects and Child Health
Genetic differential susceptibility in literacy-delayed children: A randomized controlled trial on emergent literacy in kindergarten.
Plak Rachel D, et al. Development and psychopathology 2015 Feb 27 (1): 69-79.
Plak Rachel D, et al. Development and psychopathology 2015 Feb 27 (1): 69-79.
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae Jong Hee, et al. Journal of medical genetics 2015 Jan .
Chae Jong Hee, et al. Journal of medical genetics 2015 Jan .
Cancer
Cost-effectiveness of multiplexed predictive biomarker screening in non-small cell lung cancer.
Romanus Dorothy, et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2015 Jan 14.
Romanus Dorothy, et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2015 Jan 14.
Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes.
Rosenthal Eric T, et al. Clinical genetics 2015 Jan 14.
Rosenthal Eric T, et al. Clinical genetics 2015 Jan 14.
Genetic counselors' practices and confidence regarding variant of uncertain significance results and reclassification from BRCA testing.
Scherr Courtney L, et al. Clinical genetics 2015 Feb 2.
Scherr Courtney L, et al. Clinical genetics 2015 Feb 2.
Personalization of cancer treatment using predictive simulation.
Doudican Nicole A, et al. Journal of translational medicine 2015 Feb 1 13 (1): 43.
Doudican Nicole A, et al. Journal of translational medicine 2015 Feb 1 13 (1): 43.
Putting it off: family breast cancer history and women's retirement planning.
Zick Cathleen D, et al. Psycho-oncology 2015 Jan 29.
Zick Cathleen D, et al. Psycho-oncology 2015 Jan 29.
Chronic Diseases
An efficient and comprehensive strategy for genetic diagnostics of polycystic kidney disease.
Eisenberger Tobias, et al. PloS one 0 10 (2): e0116680.
Eisenberger Tobias, et al. PloS one 0 10 (2): e0116680.
Autoimmune disease in first-degree relatives and spouses of individuals with celiac disease.
Emilsson Louise, et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2015 Jan 30.
Emilsson Louise, et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2015 Jan 30.
Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever.
Giancane Gabriella, et al. Annals of the rheumatic diseases 2015 Jan 27.
Giancane Gabriella, et al. Annals of the rheumatic diseases 2015 Jan 27.
Factors affecting recall of different types of personal genetic information about Alzheimer's disease risk: The REVEAL study.
Besser Andria G, et al. Public health genomics 2015 Jan 24.
Besser Andria G, et al. Public health genomics 2015 Jan 24.
Genetic moderation of interpersonal psychotherapy efficacy for low-income mothers with major depressive disorder: Implications for differential susceptibility.
Cicchetti Dante, et al. Development and psychopathology 2015 Feb 27 (1): 19-35.
Cicchetti Dante, et al. Development and psychopathology 2015 Feb 27 (1): 19-35.
Long-term statin treatment in children with familial hypercholesterolemia: More insight into tolerability and adherence
Braamskamp M, et al. Pediatric Drugs, Feb 2015
Braamskamp M, et al. Pediatric Drugs, Feb 2015
Polygenic score × intervention moderation: An application of discrete-time survival analysis to modeling the timing of first tobacco use among urban youth.
Musci Rashelle J, et al. Development and psychopathology 2015 Feb 27 (1): 111-22.
Musci Rashelle J, et al. Development and psychopathology 2015 Feb 27 (1): 111-22.
Ethics, Policy and Law
Distributing the future: The weak justifications for keeping human genomic databases secret and the challenges and opportunities in reverse engineering them.
Angrist Misha, et al. Applied & translational genomics 2014 Dec 1 3 (4): 124-127.
Angrist Misha, et al. Applied & translational genomics 2014 Dec 1 3 (4): 124-127.
GINA, genetic discrimination, and genomic medicine.
Green Robert C, et al. The New England journal of medicine 2015 Jan 29 372 (5): 397-9.
Green Robert C, et al. The New England journal of medicine 2015 Jan 29 372 (5): 397-9.
The collection, linking and use of data in biomedical research and health care: ethical issues,Nuffield Council on Bioethics, Feb 2015
Genomics in Practice
A differential susceptibility analysis reveals the "who and how" about adolescents' responses to preventive interventions: Tests of first- and second-generation Gene × Intervention hypotheses.
Brody Gene H, et al. Development and psychopathology 2015 Feb 27 (1): 37-49.
Brody Gene H, et al. Development and psychopathology 2015 Feb 27 (1): 37-49.
Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Amendola Laura M, et al. Genome research 2015 Jan 30.
Amendola Laura M, et al. Genome research 2015 Jan 30.
Associations between self-referral and health behavior responses to genetic risk information.
Christensen Kurt D, et al. Genome medicine 2015 Jan 31 7 (1): 10.
Christensen Kurt D, et al. Genome medicine 2015 Jan 31 7 (1): 10.
Developmental mediation of genetic variation in response to the Fast Track prevention program.
Albert Dustin, et al. Development and psychopathology 2015 Feb 27 (1): 81-95.
Albert Dustin, et al. Development and psychopathology 2015 Feb 27 (1): 81-95.
Evaluating the clinical utility of genomic variants derived from next-generation sequencing for opportunistic disease screening and risk assessment: Evidence gaps and priorities.
Khoury MJ, Cashion A, Billings PR. Institute of Medicine Discussion Report, February 5, 2015
Khoury MJ, Cashion A, Billings PR. Institute of Medicine Discussion Report, February 5, 2015
How do students react to analyzing their own genomes in a whole-genome sequencing course?: outcomes of a longitudinal cohort study.
Sanderson Saskia C, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jan 29.
Sanderson Saskia C, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Jan 29.
Is group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation
Ellen Otten et al. European Journal of Human Genetics, February 4, 2015
Ellen Otten et al. European Journal of Human Genetics, February 4, 2015
'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project.
Vassy Jason L, et al. Personalized medicine 2015 12 (1): 23-32.
Vassy Jason L, et al. Personalized medicine 2015 12 (1): 23-32.
Targeted carrier screening for four recessive disorders: High detection rate within a founder population.
Mathijssen Inge B, et al. European journal of medical genetics 2015 Jan 29.
Mathijssen Inge B, et al. European journal of medical genetics 2015 Jan 29.
Guidelines & Recommendations
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Syngal Sapna, et al. The American journal of gastroenterology 2015 Feb 110 (2): 223-262.
Syngal Sapna, et al. The American journal of gastroenterology 2015 Feb 110 (2): 223-262.
Newborn Screening
Applying transparency and quality measurement to improve newborn screening: Lessons learned from Arizona's Transit Time Project.
Martz Mark P, et al. Journal of public health management and practice : JPHMP 2015 Mar-Apr 21(2): 217-9.
Martz Mark P, et al. Journal of public health management and practice : JPHMP 2015 Mar-Apr 21(2): 217-9.
Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A new designation and management recommendations for infants with an inconclusive diagnosis following newborn screening.
Munck A, et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2015 Jan 24.
Munck A, et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2015 Jan 24.
Trends in mortality and hospital admissions of sickle cell disease patients before and after the newborn screening program in Maranhão, Brazil.
Lima Ana Ranoy Gomes, et al. Revista brasileira de hematologia e hemoterapia 2015 Ja-Feb 37(1): 12-6.
Lima Ana Ranoy Gomes, et al. Revista brasileira de hematologia e hemoterapia 2015 Ja-Feb 37(1): 12-6.
Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.
Howard Heidi Carmen, et al. European journal of human genetics : EJHG 2015 Jan 28.
Howard Heidi Carmen, et al. European journal of human genetics : EJHG 2015 Jan 28.
Pharmacogenomics
Clinical benefits of pharmacogenetic algorithm-based warfarin dosing: meta-analysis of randomized controlled trials.
Li Xiaoqi, et al. Thrombosis research 2015 Jan 17.
Li Xiaoqi, et al. Thrombosis research 2015 Jan 17.
Routine screening for CYP2C19 polymorphisms for patients being treated with clopidogrel is not recommended.
Bhopalwala Adnan M, et al. Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public Health 2015 Jan 74 (1): 16-20.
Bhopalwala Adnan M, et al. Hawai'i journal of medicine & public health : a journal of Asia Pacific Medicine & Public Health 2015 Jan 74 (1): 16-20.
Reproductive Health
Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma
Yan Xu MS et al. Genetics in Medicine, February 5, 2015
Yan Xu MS et al. Genetics in Medicine, February 5, 2015
Uptake of noninvasive prenatal testing at a large academic referral center.
Larion Sebastian, et al. American journal of obstetrics and gynecology 2014 Dec 211 (6): 651.e1-7.
Larion Sebastian, et al. American journal of obstetrics and gynecology 2014 Dec 211 (6): 651.e1-7.
Reviews, News and Commentaries
Therapeutic genome editing: prospects and challenges
David Benjamin, et al. Nature Medicine, February 5, 2015
David Benjamin, et al. Nature Medicine, February 5, 2015
The future of cancer genomics
Nature Medicine Editorial, February 5, 2015
Nature Medicine Editorial, February 5, 2015
Big data studies come with replication challenges. The truth can be hard to find with millions of data points and lots of room for error, by Tina Hesman Saey, Science News, Jan 26
Researchers detect cancer precursors in blood DNA before disease develops, by Jacqueline A. Odgis, National Human Genome Research Institute, February 2015
Tools and Databases
DEPICT is an integrative tool that systematically prioritizes the most likely causal genes at associated loci, from the Broad Institute
Biological interpretation of genome-wide association studies using predicted gene functions.
Tune H. Pers et al. Nature Communications, January 2015
Tune H. Pers et al. Nature Communications, January 2015
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