Published on 08/30/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots.
Shearer A Eliot et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2018 Aug 194599818797291 -
Diagnostic Accuracy of Serum Matrix Metalloproteinase-7 for Biliary Atresia.
Yang Li et al. Hepatology (Baltimore, Md.) 2018 Aug -
Genetic Evaluation of 114 Chinese Short Stature Children in the Next Generation Era: a Single Center Study.
Huang Zhuo et al. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 Aug 49(1) 295-305 -
Precision Medicine for Charcot-Marie-Tooth Disease.
Pleasure David et al. JAMA neurology 2016 73(6) 623-4 -
Genetics of epilepsy.
Nolan Danielle et al. Handbook of clinical neurology 2018 148467-491 -
Children with GJB2 gene mutations have various audiological phenotypes.
Wang Xianlei et al. Bioscience trends 2018 Aug -
Clinical utility gene card for: inherited optic neuropathies including next-generation sequencing-based approaches.
Jurkute Neringa et al. European journal of human genetics : EJHG 2018 Aug -
Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists.
McDowall F et al. British dental journal 2018 Aug 225(4) 335-339 -
Identification of paternal uniparental disomy on chromosome 22 and a de novo deletion on chromosome 18 in individuals with orofacial clefts.
Oseni Ganiyu O et al. Molecular genetics & genomic medicine 2018 Aug -
Current and emerging therapies to prevent hereditary angioedema attacks.
Lumry William R et al. The American journal of managed care 2018 Aug 24(14 Suppl) S299-S307 -
Severity of hereditary angioedema, prevalence, and diagnostic considerations.
Bernstein Jonathan A et al. The American journal of managed care 2018 Aug 24(14 Suppl) S292-S298 -
Just 21 People Are Known to Have This Rare Genetic Condition. Can You Help Us Find More?
L Sanders, New York Times, August, 2018 -
Whose Odyssey Is It? Family-Centered Care in the Genomic Era.
Brosco Jeffrey P et al. The Hastings Center report 2018 Jul 48 Suppl 2S20-S22 -
Targeted next-generation sequencing for genetic diagnosis of 160 patients with primary immunodeficiency in South China.
Xia Yu et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Aug -
Genetic testing in children and adolescents with intellectual disability.
Bass Nick et al. Current opinion in psychiatry 2018 Aug -
Candidate genes linking maternal nutrient exposure to offspring health via DNA methylation: a review of existing evidence in humans with specific focus on one-carbon metabolism.
James Philip et al. International journal of epidemiology 2018 Aug -
Genetic diagnosis in neonatal-onset epilepsies: Back to the future.
Pisani Francesco et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2018 May 22(3) 354-357 -
Role of Pediatric Geneticists in Craniofacial Teams: The Identification of Craniofacial Conditions with Cancer Predisposition.
Wenger Tara L et al. The Journal of pediatrics 2016 175216-223.e1 -
FSH may be a useful tool to allow early diagnosis of Turner syndrome.
Carpini Stela et al. BMC endocrine disorders 2018 Feb 18(1) 8
Cancer
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Best Practices for Genomic Assay Testing in Early-Stage Breast Cancer: Clinical and Medicolegal Perspectives.
Seidman Andrew D et al. Population health management 2017 20(4) 252-254 -
Prognostic impact of t(16;21)(p11;q22) and t(16;21)(q24;q22) in pediatric AML: a retrospective study by the I-BFM Study Group.
Noort Sanne et al. Blood 2018 Aug -
Can Transcriptomics Help Find the Right Time to Administer Chemotherapy?
CM Rey, GEN, August 2018 -
Comparison of glioblastoma (GBM) molecular classification methods.
Lee Eunjee et al. Seminars in cancer biology 2018 Jul -
This Is How I Told People About My BRCA Diagnosis And How They Responded
S Altshule, Bustle.com, AUgust 27, 2018 -
POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas.
Rosner Guy et al. Diseases of the colon and rectum 2018 61(9) 1073-1079 -
Imaging Phenotypes in Women at High Risk for Breast Cancer on Mammography, Ultrasound, and Magnetic Resonance Imaging Using the Fifth Edition of the Breast Imaging Reporting and Data System.
Marino Maria Adele et al. European journal of radiology 2018 Sep 106150-159 -
A survey study with assessment of esophageal screening and genetic counseling in patients with Howel-Evans syndrome.
Jenkins Lauren E et al. Dermatology online journal 2018 Jun 24(6) -
Companions or patients? The impact of family presence in genetic consultations for inherited breast cancer: Relational autonomy in practice.
Gilbar Roy et al. Bioethics 2018 Jul 32(6) 378-387 -
DNA Mismatch Repair Protein Immunohistochemistry and MLH1 Promotor Methylation Testing for Practical Molecular Classification and the Prediction of Prognosis in Endometrial Cancer.
Kim Jisup et al. Cancers 2018 Aug 10(9) -
Identification of a five-gene signature with prognostic value in colorectal cancer.
Sun Guangwei et al. Journal of cellular physiology 2018 Aug -
Translational genomic research: the role of genetic polymorphisms in MBSR program among breast cancer survivors (MBSR[BC]).
Park Jong Y et al. Translational behavioral medicine 2018 Aug -
Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms (CMNs): A Report of the Association for Molecular Pathology.
McClure Rebecca F et al. The Journal of molecular diagnostics : JMD 2018 Aug -
Cancer Molecular Screening and Therapeutics (MoST): a framework for multiple, parallel signal-seeking studies of targeted therapies for rare and neglected cancers.
Thavaneswaran Subotheni et al. The Medical journal of Australia 2018 Aug -
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations.
Cox Devin M et al. Molecular genetics & genomic medicine 2018 Aug -
Genomic correlates of response to immune checkpoint blockade in microsatellite-stable solid tumors.
Miao Diana et al. Nature genetics 2018 Aug -
A Multicenter Study to Assess EGFR Mutational Status in Plasma: Focus on an Optimized Workflow for Liquid Biopsy in a Clinical Setting.
Sorber Laure et al. Cancers 2018 Aug 10(9) -
Multigene Panels to Evaluate Hereditary Cancer Risk: Reckless or Relevant?
Hall Michael J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 34(34) 4186-4187 -
Exosomal double-stranded DNA as a biomarker for the diagnosis and preoperative assessment of pheochromocytoma and paraganglioma.
Wang Liang et al. Molecular cancer 2018 Aug 17(1) 128 -
Early genetic counseling and detection of CDH1 mutation in asymptomatic carriers improves survival in hereditary diffuse gastric cancer.
Moslim Maitham A et al. Surgery 2018 Aug -
Talazoparib for BRCA-mutated advanced breast cancer.
Gunjur Ashray et al. The Lancet. Oncology 2018 Aug -
NICE Advice - Prolaris gene expression assay for assessing long-term risk of prostate cancer progression: © NICE (2016) Prolaris gene expression assay for assessing long-term risk of prostate cancer progression.
et al. BJU international 2018 Aug 122(2) 173-180 -
OncoKids SM : A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.
Hiemenz Matthew C et al. The Journal of molecular diagnostics : JMD 2018 Aug -
Peripheral T-Cell Lymphomas: Incorporating New Developments in Diagnostics, Prognostication, and Treatment Into Clinical Practice-PART 2: ENKTL, EATL, Indolent T-Cell LDP of the GI Tract, ATLL, and Hepatosplenic T-Cell Lymphoma.
Zing Natalia Pin Chuen et al. Oncology (Williston Park, N.Y.) 2018 Aug 32(8) -
Final Recommendation Statement Cervical Cancer Screening,
U.S. Preventative Services Task Force, August 2018 -
Universal Lynch Syndrome Screening Should be Performed in All Upper Tract Urothelial Carcinomas.
Ju Jennifer Y et al. The American journal of surgical pathology 2018 Aug -
How and When to Consider Genetic Testing for Colon Cancer?
Ballester Veroushka et al. Gastroenterology 2018 Aug -
Brief report: c-MET overexpression as a poor predictor of MET amplifications or exon 14 mutations in lung sarcomatoid carcinomas.
Mignard Xavier et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2018 Aug -
Genetic secrets of long-term glioblastoma survivors.
Jovcevska Ivana et al. Bosnian journal of basic medical sciences 2018 Aug -
Beyond microsatellite testing: assessment of tumor mutational burden identifies subsets of colorectal cancer who may respond to immune checkpoint inhibition.
Fabrizio David A et al. Journal of gastrointestinal oncology 2018 Aug 9(4) 610-617 -
Precision medicine in cholangiocarcinoma.
Pellino Antonio et al. Translational gastroenterology and hepatology 2018 340 -
The DNA methylation landscape of glioblastoma disease progression shows extensive heterogeneity in time and space.
Klughammer Johanna et al. Nature medicine 2018 Aug -
The combination of PTEN deletion and 16p13.3 gain in prostate cancer provides additional prognostic information in patients treated with radical prostatectomy.
Bramhecha Yogesh M et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Aug -
Chronic pancreatitis changes in high-risk individuals for pancreatic ductal adenocarcinoma.
Thiruvengadam Sushrut S et al. Gastrointestinal endoscopy 2018 Aug -
Pathology Consultation for the Gynecologic Oncologist: What the Surgeon Wants to Know.
Cory Lori et al. Archives of pathology & laboratory medicine 2018 Aug -
Prognostic value of gastric cancer-associated gene signatures: Evidence based on a meta-analysis using integrated bioinformatics methods.
Wang Jun et al. Journal of cellular and molecular medicine 2018 Aug -
A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT).
Mateo J et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Aug -
Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates.
Vidak Marko et al. International journal of molecular sciences 2018 May 19(5) -
Cancer Screening
Recommendations for individual patients vary according to their level of risk, Jackson Labs, clinician education -
New Study Explains Why Genetic Mutations Cause Disease in Some People but Not in Others
Columbia Systems Biology News, August 2018 -
Improved prediction of breast cancer outcome by identifying heterogeneous biomarkers.
Choi Jonghwan et al. Bioinformatics (Oxford, England) 2017 Nov 33(22) 3619-3626 -
Novel translational therapeutic strategy by sequencing primary liver cancer genomes.
Glantzounis Georgios K et al. Future oncology (London, England) 2017 13(12) 1049-1052 -
Patients with negative multi-gene panel testing: a back to the future paradox?
Sorscher Steven M et al. Familial cancer 2017 16(3) 459 -
Knowledge, Attitudes, Preventive Practices and Screening Intention about Colorectal Cancer and the Related Factors among Residents in Guangzhou, China
Wang Min-Yi et al. Asian Pacific journal of cancer prevention : APJCP 2017 Dec 18(12) 3217-3223 -
Differences Among a Modern Cohort of BRCA Mutation Carriers Choosing Bilateral Prophylactic Mastectomies Compared to Breast Surveillance.
Gilbert Elizabeth et al. Annals of surgical oncology 2017 Oct 24(10) 3048-3054 -
Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions.
Kravochuck Sara E et al. ANZ journal of surgery 2017 Dec 87(12) 1006-1010 -
Imaging findings of hereditary renal tumors, a review of what the radiologist should know.
Czarniecki Marcin et al. European journal of radiology 2018 Apr 1018-16 -
Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.
Bonaparte Eleonora et al. Diagnostic pathology 2018 Jan 13(1) 4 -
Germline BRCA1/BRCA2 mutations among high risk breast cancer patients in Jordan.
Abdel-Razeq Hikmat et al. BMC cancer 2018 18(1) 152 -
HtrA1 as a promising tissue marker in cancer: a meta-analysis.
Altobelli Emma et al. BMC cancer 2018 18(1) 143 -
Serum and blood based biomarkers for lung cancer screening: a systematic review.
Chu Gavin C W et al. BMC cancer 2018 18(1) 181 -
Salivary Glycopatterns as Potential Biomarkers for Screening of Early-Stage Breast Cancer.
Liu Xiawei et al. EBioMedicine 2018 Feb 2870-79
Chronic Disease
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All About Your A1C
CDC, August 2018 -
Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study.
Trajanoska Katerina, et al. BMJ (Clinical research ed.) 2018 0 0. k3225 -
Daring to hope
M Wadman, Science, August 23, 2018 -
Pharmacogenomic study on anti-VEGF medicine in treatment of macular Neovascular diseases: a study protocol for a prospective observational study.
Jing Jin et al. BMC ophthalmology 2018 Jul 18(1) 181 -
Association of genetic risk score and chronic kidney disease in a Japanese population.
Fujii Ryosuke et al. Nephrology (Carlton, Vic.) 2018 Aug -
A renal genetic risk score (GRS) is associated with kidney dysfunction in people with type 2 diabetes.
Zusi Chiara et al. Diabetes research and clinical practice 2018 Aug -
The genetic risk of Alzheimer's disease beyond APOE ?4: systematic review of Alzheimer's genetic risk scores.
Stocker Hannah et al. Translational psychiatry 2018 Aug 8(1) 166 -
Education, intelligence and Alzheimer's disease: Evidence from a multivariable two-sample Mendelian randomization study
EL Anderson et al, BioRXIV, AUgust 2018 -
New Genes May Contribute to Alzheimers
Boston University Public Health, August 27, 2018 -
Molecular diagnosis and classification of inflammatory bowel disease.
Zhang Hu et al. Expert review of molecular diagnostics 2018 Aug -
Neuropathy.
Pisciotta Chiara et al. Handbook of clinical neurology 2018 148653-665 -
Is DNA testing for hemochromatosis diagnosis reliable?
Adams Paul C et al. Expert review of molecular diagnostics 2017 17(3) 203-204 -
The miRNA Mirage: How Close Are We to Finding a Non-Invasive Diagnostic Biomarker in Endometriosis? A Systematic Review.
Agrawal Swati et al. International journal of molecular sciences 2018 Feb 19(2)
Ethics/Policy/Law
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FDA rejects Akcea rare-disease drug that uses gene-blocking technology
K Sheridan, Stat News, August 27, 2018 -
Ethical Issues Regarding CRISPR Mediated Genome Editing.
Shinwari Zabta Khan et al. Current issues in molecular biology 2018 26103-110 -
Ethical and Safety Issues of Stem Cell-Based Therapy.
Volarevic Vladislav et al. International journal of medical sciences 2018 15(1) 36-45 -
Genomics, Big Data, and Broad Consent: a New Ethics Frontier for Prevention Science.
Fisher Celia B et al. Prevention science : the official journal of the Society for Prevention Research 2018 Aug -
The Legal Dimensions of Genomic Sequencing in Newborn Screening.
Zacharias Rachel L et al. The Hastings Center report 2018 Jul 48 Suppl 2S39-S41 -
My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.
Michelson Jeremy et al. The Hastings Center report 2018 Jul 48 Suppl 2S32-S34 -
Eugenics Redux: "Reproductive Benefit" as a Rationale for Newborn Screening.
Paul Diane B et al. The Hastings Center report 2018 Jul 48 Suppl 2S12-S13 -
A New Era, New Strategies: Education and Communication Strategies to Manage Greater Access to Genomic Information.
Lewis Megan A et al. The Hastings Center report 2018 Jul 48 Suppl 2S25-S27 -
Are Parents Really Obligated to Learn as Much as Possible about Their Children's Genomes?
Johnston Josephine et al. The Hastings Center report 2018 Jul 48 Suppl 2S14-S15 -
Balancing the local and the universal in maintaining ethical access to a genomics biobank.
Heeney Catherine et al. BMC medical ethics 2017 18(1) 80 -
Equitable CF care as a basic human right.
De Boeck Kris et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 15(6) 703-704
Practice
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In depth: Polygenic risk scoring
L Eisenstadt, Broad Institute, AUgust 27, 2018 -
Cas9 immunity creates challenges for CRISPR gene editing therapies.
Crudele Julie M, et al. Nature communications 2018 0 0. (1) 3497 -
Assessment of Epidemiology Capacity in State Health Departments - United States, 2017.
Arrazola Jessica, et al. MMWR. Morbidity and mortality weekly report 2018 8 0. (33) 935-939 -
CRISPR is too fat for many therapies, so scientists are putting the genome editor on a diet
J Cohen, Science, August 30, 2018 -
Genomic Medicine XI: Research Directions in Genomic Medicine Implementation
NHGRI, September 5-6, 2018 -
Introducing medical genetics services in Ethiopia using the MiGene Family History App.
Quinonez Shane C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun -
Assessing the suitability of NGS panels for clinical sequencing.
Giorda Kristina et al. MLO: medical laboratory observer 2017 Apr 49(4) 36-7 -
Precision Medicine for Critical Illness and Injury.
Buchman Timothy G et al. Critical care medicine 2016 44(9) 1635-8 -
Nutrigenomics and the Future of Nutrition: Proceedings of a Workshop.
National Academies of Sciences, Engineering, and Medicine; Health and Medicine Division; Food and Nutrition Board; Food Forum, 2018 -
EVIDENCE REQUIRED BY HEALTH TECHNOLGY ASSESSMENT AND REIMBURSEMENT BODIES EVALUATING DIAGNOSTIC OR PROGNOSTIC ALGORITHMS THAT INCLUDE OMICS DATA.
Barna Alexandre et al. International journal of technology assessment in health care 2018 Aug 1-10 -
Disabilities and Access to Health Care
CDC Information, 2018 -
Influence of puberty timing on adiposity and cardiometabolic traits: A Mendelian randomisation study.
Bell Joshua A et al. PLoS medicine 2018 Aug 15(8) e1002641 -
INTEGRATING COMMUNITY-LEVEL DATA RESOURCES FOR PRECISION MEDICINE RESEARCH.
Bush William S et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2018 23618-622 -
An integrated clinical program and crowdsourcing strategy for genomic sequencing and Mendelian disease gene discovery.
Haghighi Alireza et al. NPJ genomic medicine 2018 321 -
Does education protect against depression? Evidence from the Young Finns Study using Mendelian randomization.
Viinikainen Jutta et al. Preventive medicine 2018 Aug -
Researchers find a way to mimic clinical trials using genetics
A technique called Mendelian randomization could be the revolutionary tool drug companies have been waiting for.
G Tauber, MIT Tech Review, August 28, 2018 -
Genomic precision medicine: on the TRK.
Elitzur Sarah et al. Blood 2018 Aug 132(8) 773-774 -
The Beauty Of 'Small Data' In Medicine, From Measuring Kids To Tumor Mutations
I Kohane, WBUR, August 29, 2018 -
Opinion: Consumer DNA Testing Is Crossing into Unethical Territories-Data dont support many direct-to-consumer products, from telomere assessments to bespoke diets based on genetic sequences.
JD Loike, The Scientist, August 2018 -
Consumer Genetic Testing Will Change Your Life. In Fact, It Probably Already Has.
E Matloff, Forbes, August 24, 2018 -
A New Day Dawns for Direct-to-Consumer Marketing.
Mena Claire et al. Genetic testing and molecular biomarkers 2017 21(5) 273-274 -
The importance of dynamic re-analysis in diagnostic whole exome sequencing.
Need Anna C et al. Journal of medical genetics 2017 54(3) 155-156 -
Better bioinformatics will help labs manage genetic testing.
Shah Sohela et al. MLO: medical laboratory observer 2017 49(2) 28, 31
Heart, Lung, Blood and Sleep Diseases
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The Patients Who Don't Want to Be Cured
A hemophiliac says his genetic disorder is part of his identity, and therapies like CRISPR threaten to erase it.
S Zhang, The Atlantic, August 29, 2018 -
Factor VIII-Mimetic Function of Humanized Bispecific Antibody in Hemophilia A.
Shima Midori et al. The New England journal of medicine 2016 May 374(21) 2044-53 -
In pediatric familial hypercholesterolemia, lipoprotein(a) is more predictive than LDL-C for early onset of cardiovascular disease in family members.
Zawacki Amy W et al. Journal of clinical lipidology 2018 Jul -
Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.
Luo Shiyu et al. Arquivos brasileiros de cardiologia 2018 Aug -
Pharmacoproteomics Profiling of Plasma From ?-Thalassemia Patients in Response to Hydroxyurea Treatment.
Zohaib Muhammad et al. Journal of clinical pharmacology 2018 Aug -
Assessment of the QT Interval in Athletes: Red Flags and Pitfalls.
Ahluwalia Nikhil et al. Current treatment options in cardiovascular medicine 2018 Aug 20(10) 82 -
Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.
Chen Ian Y et al. Nature reviews. Cardiology 2016 13(6) 333-49 -
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza María José et al. Journal of clinical lipidology 2018 Aug -
Mimicking Factor VIII to Manage the Factor VIII-Deficient State.
Ragni Margaret V et al. The New England journal of medicine 2018 Aug 379(9) 880-882 -
Clinical Utility of Genetic Testing in the Diagnosis of Familial Hypercholesterolemia
NLA Free Webinar, Thu, Oct 25, 2018 6:00 PM - 7:00 PM EDT -
Design of a Controlled Trial of Cascade Screening for Hypercholesterolemia: The (CASH) Study.
Kullo Iftikhar J et al. Journal of personalized medicine 2018 Aug 8(3) -
Genetic evaluation of patients with congenital heart disease.
Geddes Gabrielle C et al. Current opinion in pediatrics 2018 Aug -
Practice Variation among an International Group of Genetic Counselors on when to Offer Predictive Genetic Testing to Children at Risk of an Inherited Arrhythmia or Cardiomyopathy.
Christian S et al. Journal of genetic counseling 2018 Aug -
Early Detection Sparks Swift Treatment for Brain Aneurysm
Mayo Clinic, August 2018 -
Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.
Natarajan Pradeep et al. Nature communications 2018 Aug 9(1) 3391 -
Noncardiac genetic predisposition in sudden infant death syndrome.
Gray Belinda et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
Emicizumab Prophylaxis in Patients Who Have Hemophilia A without Inhibitors.
Mahlangu Johnny et al. The New England journal of medicine 2018 Aug 379(9) 811-822
Newborn Screening
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Lessons for Sequencing from the Addition of Severe Combined Immunodeficiency to Newborn Screening Panels.
Puck Jennifer M et al. The Hastings Center report 2018 Jul 48 Suppl 2S7-S9 -
Single-Gene Sequencing in Newborn Screening: Success, Challenge, Hope.
Currier Robert J et al. The Hastings Center report 2018 Jul 48 Suppl 2S37-S38 -
Newborn screening by tandem mass spectrometry confirms the high prevalence of sickle cell disease among German newborns.
Lobitz Stephan et al. Annals of hematology 2018 Aug -
Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.
Dankert-Roelse Jeannette E et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2018 Aug -
Newborn screening for Cerebrotendinous Xanthomatosis is the Solution for Early Identification and Treatment.
DeBarber Andrea E et al. Journal of lipid research 2018 Aug -
Using Newborn Sequencing to Advance Understanding of the Natural History of Disease.
Holm Ingrid A et al. The Hastings Center report 2018 Jul 48 Suppl 2S45-S46 -
What Genomic Sequencing Can Offer Universal Newborn Screening Programs.
Powell Cynthia M et al. The Hastings Center report 2018 Jul 48 Suppl 2S18-S19 -
Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies.
Johnston Josephine et al. The Hastings Center report 2018 Jul 48 Suppl 2S2-S6 -
Families' Experiences with Newborn Screening: A Critical Source of Evidence.
Grob Rachel et al. The Hastings Center report 2018 Jul 48 Suppl 2S29-S31 -
Commercial Interests, the Technological Imperative, and Advocates: Three Forces Driving Genomic Sequencing in Newborns.
Pereira Stacey et al. The Hastings Center report 2018 Jul 48 Suppl 2S43-S44
Pharmacogenomics
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The effect of pharmacogenomic testing on response and remission rates in the acute treatment of major depressive disorder: A meta-analysis.
Rosenblat Joshua D et al. Journal of affective disorders 2018 Aug 241484-491 -
The role of pharmacogenetics of cytochrome P450s in phenytoin-induced DRESS syndrome.
Yasar Ümit et al. Central-European journal of immunology 2018 43(2) 220-221 -
Impact of SLCO1B1 pharmacogenetic testing on patient and healthcare outcomes: A systematic review.
Vassy Jason L et al. Clinical pharmacology and therapeutics 2018 Aug
Reproductive Health
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ACOG Technology Assessment in Obstetrics and Gynecology No. 14: Modern Genetics in Obstetrics and Gynecology.
et al. Obstetrics and gynecology 2018 132(3) e143-e168 -
Should every embryo undergo preimplantation genetic testing for aneuploidy? A review of the modern approach to in vitro fertilization.
Maxwell Susan M et al. Best practice & research. Clinical obstetrics & gynaecology 2018 Jul -
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Porter Kathryn M et al. Molecular genetics & genomic medicine 2018 Aug -
Public funding for non-invasive prenatal testing for fetal aneuploidy - It's time.
Maxwell Susannah et al. The Australian & New Zealand journal of obstetrics & gynaecology 2018 Aug 58(4) 385-387 -
Application of chromosomal microarray analysis in products of miscarriage.
Zhu Xiangyu et al. Molecular cytogenetics 2018 1144 -
Noninvasive Prenatal Screening for Fetal Sex Chromosome Aneuploidies at Two Next-Generation Sequencing Platforms.
Xue Ying et al. Annals of clinical and laboratory science 2018 Jul 48(4) 501-505 -
Preimplantation genetic diagnosis versus prenatal diagnosis-decision-making among pregnant FMR1 premutation carriers.
Haham Lilach Marom et al. Journal of assisted reproduction and genetics 2018 Aug -
Premarital health counseling: A must.
Puri Sonia et al. Indian journal of public health 60(4) 287-289
News/ Reviews/Comments
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ACOG Technology Assessment in Obstetrics and Gynecology No. 14 Summary: Modern Genetics in Obstetrics and Gynecology.
et al. Obstetrics and gynecology 2018 Sep 132(3) 807-808