Published on 01/11/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Validation of Polymerase Chain Reaction-Based Assay to Detect Actual Number of CGG Repeats in FMR1 Gene in Indian Fragile X Syndrome Patients.
Chowdhury Madhumita Roy et al. Journal of child neurology 2017 Mar 32(4) 371-378 -
Response biomarkers in neonatal intervention studies.
Kelly Lauren E et al. Pediatric research 2017 Aug -
Safe Sleep for Babies
CDC Vital Signs, Jan 9, 2018 -
About 3,500 babies in the US are lost to sleep-related deaths each year
CDC News Release, Jan 9, 2018 -
Favism and Glucose-6-Phosphate Dehydrogenase Deficiency.
Luzzatto Lucio et al. The New England journal of medicine 2018 Jan 378(1) 60-71 -
Systematic review of the clinical manifestations of glucose-6-phosphate dehydrogenase deficiency in the Greater Mekong Subregion: implications for malaria elimination and beyond.
Ong Ken Ing Cherng et al. BMJ global health 2017 2(3) e000415 -
Prevalence, genetic variants and clinical implications of G-6-PD deficiency in Burkina Faso: a systematic review.
Ouattara Abdoul Karim et al. BMC medical genetics 2017 18(1) 139 -
MTHFR A1298C polymorphisms reduce the risk of congenital heart defects: a meta-analysis from 16 case-control studies.
Yu Di et al. Italian journal of pediatrics 2017 Dec 43(1) 108 -
The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Dragojlovic Nick et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
Whole Exome Sequencing in Pediatric Neurology Patients: Clinical Implications and Estimated Cost Analysis.
Nolan Danielle et al. Journal of child neurology 2016 Jun 31(7) 887-94 -
The CSER Program: Tiana's Story
Hudson Alpha, Vimeo, 2018 -
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
Ivanovski Ivan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
Cancer
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Ohio Mom, 27, Diagnosed with Breast Cancer Months After Giving Birth Speaks Out: 'Be Proactive'
msn lifestyle, Jan 4, 2018 -
How Genetic Testing Guided My Breast Cancer Journey To Eschewing Beef
R Lewis, PLOS Blogs, Jan 11, 2018 -
Consensus on precision medicine for metastatic cancers: a report from the MAP conference.
Swanton C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2016 Aug 27(8) 1443-8 -
The clinical implications of immunogenomics in colorectal cancer: A path for precision medicine.
Riley Jenny M et al. Cancer 2018 Jan -
The impact of patient age on breast cancer risk prediction models.
Coopey Suzanne B et al. The breast journal 2018 Jan -
Prophylactic mastectomy for BRCA mutation carriers after ovarian cancer treatment: is it beneficial?
Kotsopoulos Joanne et al. Expert review of anticancer therapy 2018 Jan 1-2 -
Decision making for breast cancer prevention among women at elevated risk.
Padamsee Tasleem J et al. Breast cancer research : BCR 2017 Mar 19(1) 34 -
Multiplex KRASG12/G13 mutation testing of unamplified cell-free DNA from the plasma of patients with advanced cancers using droplet digital polymerase chain reaction.
Janku F et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 28(3) 642-650 -
Factors influencing the decision to share cancer genetic results among family members: an in-depth interview study of women in an Asian setting.
Li Shao-Tzu et al. Psycho-oncology 2018 Jan -
Real-world utilization of molecular diagnostic testing and matched drug therapies in the treatment of metastatic cancers.
Chawla Anita et al. Journal of medical economics 2018 Jan 1-21 -
Diagnostic Utility of Molecular and Imaging Biomarkers in Cytological Indeterminate Thyroid Nodules.
de Koster Elizabeth J et al. Endocrine reviews 2018 Jan -
Markers of clinical utility in the differential diagnosis and prognosis of prostate cancer.
Kristiansen Glen et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jan 31(S1) S143-155 -
Introduction to the Yale Precision Medicine Tumor Board.
Cecchini Michael et al. The Lancet. Oncology 2018 Jan 19(1) 19-20 -
Yale Cancer Center Precision Medicine Tumor Board: two patients, one targeted therapy, different outcomes.
Cecchini Michael et al. The Lancet. Oncology 2018 Jan 19(1) 23-24 -
Evaluation of a 27-gene inherited cancer panel across 630 consecutive patients referred for testing in a clinical diagnostic laboratory.
Gardner Sabrina A et al. Hereditary cancer in clinical practice 2018 161 -
All patients with colorectal cancer should be tested for genetic condition, NICE advises.
Gulland Anne et al. BMJ (Clinical research ed.) 2017 356j998 -
Opportunities and Challenges in Genomic Sequencing for Precision Cancer Care.
Cheng Michael L et al. Annals of internal medicine 2018 Jan -
Immune-Related Adverse Events Associated with Immune Checkpoint Blockade.
Postow Michael A et al. The New England journal of medicine 2018 Jan 378(2) 158-168 -
Putative biomarkers for cervical cancer: SNVs, methylation and expression profiles.
Cardoso Maria de Fátima Senra et al. Mutation research 2017 Jul 773161-173 -
The Generation and Validation of a 20-Genes Model Influencing the Prognosis of Colorectal Cancer.
Xie Xiao-Jun et al. Journal of cellular biochemistry 2017 Nov 118(11) 3675-3685 -
Genetic alteration profiling of patients with resected squamous cell lung carcinomas.
Tao Dan et al. Oncotarget 2016 Jun 7(24) 36590-36601 -
Evidence of broad-based family support for the use of archival childhood tumour samples in future research.
Sexton-Oates Alexandra et al. Journal of medical ethics 2016 Jul 42(7) 460-5 -
Next-Generation Sequencing and Result Interpretation in Clinical Oncology: Challenges of Personalized Cancer Therapy.
Khotskaya Yekaterina B et al. Annual review of medicine 2017 Jan 68113-125 -
Association of Cell-Free DNA Tumor Fraction and Somatic Copy Number Alterations With Survival in Metastatic Triple-Negative Breast Cancer.
Stover Daniel G et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017760033 -
Pancreatic cancer screening in high-risk individuals with germline genetic mutations.
DaVee Tomas et al. Gastrointestinal endoscopy 2018 Jan -
Genetic susceptibility in cervical cancer: From bench to bedside.
Bahrami Afsane et al. Journal of cellular physiology 2018 Mar 233(3) 1929-1939 -
The use of automated Ki67 analysis to predict Oncotype DX risk-of-recurrence categories in early-stage breast cancer.
Thakur Satbir Singh et al. PloS one 2018 13(1) e0188983 -
Clinical Impact of 21-Gene Recurrence Score Test Within the Veterans Health Administration: Utilization and Receipt of Guideline-Concordant Care.
Hull Leland E et al. Clinical breast cancer 2017 Nov -
Prognostic impact of a novel gene expression profile classifier for the discrimination between metastatic and non-metastatic primary colorectal cancer tumors.
Gutiérrez María Laura et al. Oncotarget 2017 Dec 8(64) 107685-107700 -
Genomic profiling of gynecologic cancers and implications for clinical practice.
Prendergast Emily N et al. Current opinion in obstetrics & gynecology 2017 Feb 29(1) 18-25 -
A panel of four genes accurately differentiates benign from malignant thyroid nodules.
Wang Qing-Xuan et al. Journal of experimental & clinical cancer research : CR 2016 Oct 35(1) 169 -
Clinicopathologic, molecular, and prognostic implications of the loss of EPCAM expression in colorectal carcinoma.
Kim Jung Ho et al. Oncotarget 2016 Mar 7(12) 13372-87 -
Analysis of RTEL1 and PCDHGB6 promoter methylation in circulating-free DNA of lung cancer patients using liquid biopsy: A pilot study.
Powrózek Tomasz et al. Experimental lung research 2016 Aug 42(6) 307-13 -
Mutation based treatment recommendations from next generation sequencing data: a comparison of web tools.
Patel Jaymin M et al. Oncotarget 2016 Apr 7(16) 22064-76 -
Interactive or static reports to guide clinical interpretation of cancer genomics.
Gray Stacy W et al. Journal of the American Medical Informatics Association : JAMIA 2018 Jan -
Pharmacogenetic predictors of toxicity to platinum based chemotherapy in non-small cell lung cancer patients.
Pérez-Ramírez Cristina et al. Pharmacological research 2016 Sep 111877-884 -
TP53 mutations and protein immunopositivity may predict for poor outcome but also for trastuzumab benefit in patients with early breast cancer treated in the adjuvant setting.
Fountzilas George et al. Oncotarget 2016 May 7(22) 32731-53 -
Special considerations in the evaluation and management of breast cancer in men.
Massarweh Suleiman Alfred et al. Current problems in cancer 40(2-4) 163-171 -
Utility of a molecular prescreening program in advanced colorectal cancer for enrollment on biomarker-selected clinical trials.
Overman M J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2016 Jun 27(6) 1068-74 -
Urine TMPRSS2:ERG Plus PCA3 for Individualized Prostate Cancer Risk Assessment.
Tomlins Scott A et al. European urology 2016 Jul 70(1) 45-53 -
Statistical controversies in clinical research: prognostic gene signatures are not (yet) useful in clinical practice.
Michiels S et al. Annals of oncology : official journal of the European Society for Medical Oncology 2016 Dec 27(12) 2160-2167 -
Polygenic hazard score to guide screening for aggressive prostate cancer: development and validation in large scale cohorts.
Seibert Tyler M, et al. BMJ (Clinical research ed.) 2018 0 0. j5757 -
Cost Effectiveness of Gene Expression Profile Testing in Community Practice.
Chandler Young et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Jan JCO2017745034 -
Trends of genetic screening in patients with pheochromocytoma and paraganglioma: 15-year experience in a high-volume tertiary referral center.
Asban Ammar et al. Journal of surgical oncology 2018 Jan -
Pediatric oncologist willingness to offer germline TP53 testing in osteosarcoma.
Shaul Eliana et al. Cancer 2018 Jan -
Experts Forecast Cancer Research and Treatment Advances in 2018
S Ravoori, AACR Blog, Jan 3, 2018 -
Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.
Mikropoulos Christos et al. British journal of cancer 2018 Jan -
Rapamycin-insensitive companion of mTOR (RICTOR) amplification defines a subset of advanced gastric cancer and is sensitive to AZD2014-mediated mTORC1/2 inhibition.
Kim S T et al. Annals of oncology : official journal of the European Society for Medical Oncology 2017 28(3) 547-554 -
Modifiers of breast and ovarian cancer risks for BRCA1 and BRCA2 mutation carriers.
Milne Roger L et al. Endocrine-related cancer 2016 Oct 23(10) T69-84 -
The role of pharmacogenetics in the treatment of osteosarcoma.
Vos Hanneke I et al. Drug discovery today 2016 Nov 21(11) 1775-1786 -
Routine clinical mutation profiling using next generation sequencing and a customized gene panel improves diagnostic precision in myeloid neoplasms.
Bartels Stephan et al. Oncotarget 2016 May 7(21) 30084-93 -
A nationwide registry-based cohort study of the MammaPrint genomic risk classifier in invasive breast cancer.
Groenendijk Floris H et al. Breast (Edinburgh, Scotland) 2018 Jan 38125-131 -
Cost-effectiveness analysis of germ-line BRCA testing in women with breast cancer and cascade testing in family members of mutation carriers.
Tuffaha Haitham W et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
Changes in classification of genetic variants in BRCA1 and BRCA2.
Kast Karin et al. Archives of gynecology and obstetrics 2018 Jan -
Gene mutations in stool from gastric and colorectal neoplasia patients by next-generation sequencing.
Youssef Omar et al. World journal of gastroenterology 2017 Dec 23(47) 8291-8299 -
Validation of Customized Cancer Panel for Detecting Somatic Mutations and Copy Number Alterations.
Choi Su-Hye et al. Genomics & informatics 2017 Dec 15(4) 136-141 -
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Marks Lianna J et al. Frontiers in pediatrics 2017 5265 -
Clinical Impact of Genomic Information in Pediatric Leukemia.
Lalonde Emilie et al. Frontiers in pediatrics 2017 5263 -
Aging and the rise of somatic cancer-associated mutations in normal tissues.
Risques Rosa Ana et al. PLoS genetics 2018 Jan 14(1) e1007108 -
Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations.
Di Marco Marco et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
Chronic Disease
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Ask the doctor. Alzheimer's runs in my family. Will it help to get gene testing for this disease?
Komaroff Anthony L et al. Harvard health letter 2013 Nov 39(1) 2 -
Improving adherence to healthy dietary patterns, genetic risk, and long term weight gain: gene-diet interaction analysis in two prospective cohort studies.
Wang Tiange, et al. BMJ (Clinical research ed.) 2018 0 0. j5644 -
Biomarker-driven phenotyping in Parkinson's disease: A translational missing link in disease-modifying clinical trials.
Espay Alberto J et al. Movement disorders : official journal of the Movement Disorder Society 2017 Mar 32(3) 319-324 -
Genetic testing as a supporting tool in prescribing psychiatric medication: Design and protocol of the IMPACT study.
Herbert Deanna et al. Journal of psychiatric research 2017 Sep -
Phenotypic stratification and genotype-phenotype correlation in a heterogeneous, international cohort of GNE myopathy patients: First report from the GNE myopathy Disease Monitoring Program, registry portion.
Pogoryelova Oksana et al. Neuromuscular disorders : NMD 2017 Nov -
Diagnostic Interview for Genetic Studies: validity and reliability of the Croatian version.
Kralj ?ana et al. Psychiatric genetics 2017 Feb 27(1) 17-22 -
A Genetic Risk Score Is Associated with Weight Loss Following Roux-en Y Gastric Bypass Surgery.
Bandstein Marcus et al. Obesity surgery 2016 Sep 26(9) 2183-2189 -
Six-Year Diabetes Incidence After Genetic Risk Testing and Counseling: A Randomized Clinical Trial.
Vassy Jason L et al. Diabetes care 2018 Jan -
Genomic medicine for kidney disease.
Groopman Emily E et al. Nature reviews. Nephrology 2018 Jan -
Diet, genes, and obesity.
Ells Louisa J, et al. BMJ (Clinical research ed.) 2018 0 0. k7 -
MEFV gene testing may guide physicians for early diagnosis of familial Mediterranean fever.
Tezcan Mehmet E et al. International journal of rheumatic diseases 2018 Jan -
Application of genetic algorithm for hemodialysis schedule optimization.
Choi Jin Woo et al. Computer methods and programs in biomedicine 2017 Jul 14535-43 -
Preparing the Way: Exploiting Genomic Medicine to Stop Smoking.
Bierut Laura J et al. Trends in molecular medicine 2018 Jan -
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Palmer Elizabeth E et al. Molecular genetics & genomic medicine 2018 Jan -
The Human Pain Genetics Database (HPGDB): a resource dedicated to human pain genetics research.
Meloto Carolina B et al. Pain 2017 Dec -
Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.
Newey Paul J et al. Journal of the Endocrine Society 2017 Dec 1(12) 1507-1526
Ethics/Policy/Law
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Warn patients about privacy issues associated with genetic testing.
Reddy Sumana et al. Family practice management 25(1) 34 -
Epistemology, Ethics, and Progress in Precision Medicine.
Hey Spencer Phillips et al. Perspectives in biology and medicine 2016 59(3) 293-310 -
Right to know and right to ignore in paediatric oncogenetics: Identifying biological causes, or seeking for meaning?
Bourdeaut Franck et al. European journal of cancer (Oxford, England : 1990) 2016 6353-4 -
Genetic Discrimination: A Case for a European Legislative Response?
de Paor Aisling et al. European journal of health law 2017 Apr 24(2) 135-59 -
Next-Generation Sequencing and the Return of Results.
Knoppers Bartha Maria et al. Cold Spring Harbor perspectives in medicine 2016 Oct 6(10) -
Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.
Fossey Robyn et al. Journal of personalized medicine 2018 Jan 8(1) -
Mitochondrial donation and 'the right to know'.
Brandt Reuven et al. Journal of medical ethics 2016 Oct 42(10) 678-84 -
Accessing your own genomic data is a civil right but requires strategies to manage safety
Medical XPress, Jan 4, 2018 -
HIPAA's Individual Right of Access to Genomic Data: Reconciling Safety and Civil Rights.
Evans Barbara J et al. American journal of human genetics 2018 Jan 102(1) 5-10 -
Disabled by Design: Justifying and Limiting Parental Authority to Choose Future Children with Pre-Implantation Genetic Diagnosis.
Stramondo Joseph et al. Kennedy Institute of Ethics journal 2017 27(4) 475-500 -
Human gene editing: revisiting Canadian policy.
Knoppers Bartha Maria et al. NPJ Regenerative medicine 2017 23
Practice
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Generalizing Genetic Risk Scores from Europeans to Hispanics/Latinos
KE Grinde et al, BioRXIV preprints, Jan 4, 2018 -
Perspectives in Primary Care: Knowing the Patient as a Person in the Precision Medicine Era.
Ziegelstein Roy C et al. Annals of family medicine 2018 Jan 16(1) 4-5 -
Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing.
Allyse Megan A et al. Mayo Clinic proceedings 2018 Jan 93(1) 113-120 -
ChronQC: A Quality Control Monitoring System for Clinical Next Generation Sequencing.
Tawari Nilesh R et al. Bioinformatics (Oxford, England) 2017 Dec -
System Development Aiming Efficient Recording of Pedigree Information and Database Construction for Genetic Counseling Clinic.
Nagasawa Takuya et al. Studies in health technology and informatics 2017 2451278 -
Consumer Health Informatics Aspects of Direct-to-Consumer Personal Genomic Testing.
Gray Kathleen et al. Studies in health technology and informatics 2017 24589-93 -
Epigenetics: A way to bridge the gap between biological fields.
Nicoglou Antonine et al. Studies in history and philosophy of biological and biomedical sciences 2017 Dec 6673-82 -
Human Variome Project Quality Assessment Criteria for Variation Databases.
Vihinen Mauno et al. Human mutation 2016 37(6) 549-58 -
Representing a "revolution": how the popular press has portrayed personalized medicine.
Marcon Alessandro R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
How the immune system could stymie some CRISPR gene therapies
H Ledford, Nature, Jan 9, 2018 -
500,000 Britons' Genomes Will Be Public by 2020, Transforming Drug Research
A Regalado, Tech Review, Jan 9, 2018 -
Using Biology Education Research and Qualitative Inquiry to Inform Genomic Nursing Education.
Ward Linda D et al. Nurse educator 42(6) 303-307 -
Genomics in 2018: 3 key predictions
Genomics Education UK, Jan, 2018 -
Personalised Healthcare: The DiMA Clinical Model.
Borro Marina et al. Current pharmaceutical biotechnology 2017 18(3) 242-252 -
Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Tavtigian Sean V et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
Patient understanding of, satisfaction with, and perceived utility of whole-genome sequencing: findings from the MedSeq Project.
Roberts J Scott et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
Clinical Decision Support and Primary Care Acceptance of Genomic Medicine.
Chase Dian A et al. Studies in health technology and informatics 2017 245700-703
Heart, Lung, Blood and Sleep Diseases
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The genetics of circadian rhythms, sleep and health.
Jagannath Aarti et al. Human molecular genetics 2017 Oct 26(R2) R128-R138 -
Polygenic influences on dyslipidemias.
Dron Jacqueline S et al. Current opinion in lipidology 2018 Jan -
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
Chiou Kuan-Rau et al. Journal of clinical lipidology 11(2) 386-393.e6 -
Treatment goal attainment in children with familial hypercholesterolemia: A cohort study of 302 children in Norway.
Bogsrud Martin P et al. Journal of clinical lipidology 2017 Dec -
Standard measures for sickle cell disease research: the PhenX Toolkit sickle cell disease collections.
Eckman James R et al. Blood advances 2017 Dec 1(27) 2703-2711 -
Dietary counseling is associated with an improved lipid profile in children with familial hypercholesterolemia.
Torvik Kristin et al. Atherosclerosis 2016 Sep 25221-7 -
Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations.
Martin Rosalind et al. Atherosclerosis 2016 Nov 2548-13 -
Genome-wide association study of 1 million people identifies 111 loci for atrial fibrillation
JB Nielsen et al, BioRXIV, Jan 2018 -
Experience of Asian males communicating cardiac genetic risk within the family.
Kam Sylvia et al. Journal of community genetics 2018 Jan -
New Test For Early Heart Disease Risk Based on Multiple Genetic Differences,
by Kenny Walter, R and D Magazine, January 8, 2018 -
Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis.
Fonseca Paula Fernanda Silva et al. BMC medical genetics 2018 Jan 19(1) 3 -
To sleep or not: Researchers explore complex genetic network behind sleep duration
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Preliminary Evaluation of a Point-of-Care Testing Device (SickleSCAN?) in Screening for Sickle Cell Disease.
Nwegbu Maxwell M et al. Hemoglobin 2017 Mar 41(2) 77-82 -
Lessening the Burden of Familial Hypercholesterolemia Using Health Information Technology.
Safarova Maya S et al. Circulation research 2018 Jan 122(1) 26-27 -
Heritability of Atrial Fibrillation.
Weng Lu-Chen et al. Circulation. Cardiovascular genetics 2017 Dec 10(6) -
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly Melissa A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan -
Yield rate of chromosomal microarray analysis in fetuses with congenital heart defects.
Turan Sifa et al. European journal of obstetrics, gynecology, and reproductive biology 2017 Dec -
Whole-exome sequencing for RH genotyping and alloimmunization risk in children with sickle cell anemia.
Chou Stella T et al. Blood advances 2017 Aug 1(18) 1414-1422 -
Familial hypercholesterolaemia in patients with ischaemic stroke or transient ischaemic attack.
Toell T et al. European journal of neurology 2017 Oct -
The genetics of obstructive sleep apnoea.
Mukherjee Sutapa et al. Respirology (Carlton, Vic.) 2018 Jan 23(1) 18-27
Newborn Screening
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Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.
AlSaif Saif et al. BMC pediatrics 2017 Jul 17(1) 159 -
Measurement of fecal elastase improves performance of newborn screening for cystic fibrosis.
Barben Juerg et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 May 15(3) 313-7 -
Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias.
Al-Dirbashi Osama Y et al. Journal of medical screening 2017 Jun 24(2) 58-61
Pharmacogenomics
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Does your DNA hold the key to preventing adverse drug reactions?
Genome BC, 1-hour video presentation -
Developing Pharmacogenomic Reports: Insights from Patients and Clinicians.
Jones Laney K et al. Clinical and translational science 2018 Jan -
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP2C19 and Voriconazole Therapy.
et al. Clinical pharmacology and therapeutics 2018 Feb 103(2) 349 -
Personalized Medicine and Adverse Drug Reactions: The Experience of An Italian Teaching Hospital.
La Russa Raffaele et al. Current pharmaceutical biotechnology 2017 18(3) 274-281 -
Cost-effectiveness of HLA-DQB1/HLA-B pharmacogenetic-guided treatment and blood monitoring in US patients taking clozapine.
Girardin François R et al. The pharmacogenomics journal 2018 Jan -
Technical Challenges and Opportunities when Implementing Pharmacogenomics Decision Support Integrated in the Electronic Health Record.
Caraballo Pedro J et al. Studies in health technology and informatics 2017 2451255 -
Effects of EPHX1 and CYP3A4*22 genetic polymorphisms on carbamazepine metabolism and drug response among Tunisian epileptic patients.
Chbili Chahra et al. Journal of neurogenetics 2016 Mar 30(1) 16-21
Reproductive Health
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Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.
Hayward Jane et al. Seminars in fetal & neonatal medicine 2018 Jan -
Preimplantation Genetic Diagnosis: The Situation in France and in Other European Countries.
Duguet Anne-Marie et al. European journal of health law 2017 Apr 24(2) 160-74 -
Determination of Fetal RHD Genotype Including the RHD Pseudogene in Maternal Plasma.
Ziza Karen Chinoca et al. Journal of clinical laboratory analysis 2017 May 31(3) -
Noninvasive Prenatal DNA Testing: The Vanguard of Genomic Medicine.
Hui Lisa et al. Annual review of medicine 2017 Jan 68459-472 -
The impact of third-trimester genetic counseling.
Sharony Reuven et al. Archives of gynecology and obstetrics 2018 Jan -
Chromosome Screening Using Noninvasive Prenatal Testing Beyond Trisomy-21: What to Screen for and Why It Matters.
Hens Kristien et al. The Journal of medicine and philosophy 2017 Dec
News/ Reviews/Comments
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Received an at-home DNA test as a holiday gift? Proceed with caution
UCLA Health, January 2018