Published on 11/29/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Development and validation of the Charcot-Marie-Tooth Disease Infant Scale.
Mandarakas Melissa R et al. Brain : a journal of neurology 2018 Nov -
Perceptions of parents of children with hearing loss of genetic origin in South Africa.
Gardiner Sinead Amber et al. Journal of community genetics 2018 Nov -
Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene Mutation Causing Cerebellar Atrophy and Intellectual Disability.
Al-Hashmi Nadia et al. Case reports in genetics 2018 20186737938 -
The accuracy of computer-based diagnostic tools for the identification of concurrent genetic disorders.
Wadhwa Raoul R et al. American journal of medical genetics. Part A 2018 Nov -
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience.
Ardiçli Didem et al. Neuropediatrics 2018 Nov -
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140 -
integRATE: a desirability-based data integration framework for the prioritization of candidate genes across heterogeneous omics and its application to preterm birth.
Eidem Haley R et al. BMC medical genomics 2018 Nov 11(1) 107 -
DMD Open-access Variant Explorer (DOVE): A scalable, open-access, web-based tool to aid in clinical interpretation of genetic variants in the DMD gene.
Bailey Mitchell et al. Molecular genetics & genomic medicine 2018 Nov -
Genetic moderation of the effects of the Family Check-Up intervention on children's internalizing symptoms: A longitudinal study with a racially/ethnically diverse sample.
Lemery-Chalfant Kathryn et al. Development and psychopathology 2018 Dec 30(5) 1729-1747 -
Genetic Susceptibility for Childhood BMI has no Impact on Weight Loss Following Lifestyle Intervention in Danish Children.
Hollensted Mette et al. Obesity (Silver Spring, Md.) 2018 Dec 26(12) 1915-1922 -
Transplantation of Hematopoietic Stem Cells for Primary Immunodeficiencies in Brazil: Challenges in Treating Rare Diseases in Developing Countries.
Fernandes Juliana Folloni et al. Journal of clinical immunology 2018 Nov
Cancer
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No. 366-Gynaecologic Management of Hereditary Breast and Ovarian Cancer.
Jacobson Michelle et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1497-1510 -
Association of PI3K Pathway Mutations with Early Positron-Emission Tomography/CT Imaging Response after Radioembolization for Breast Cancer Liver Metastases: Results of a Single-Center Retrospective Pilot Study.
Deipolyi Amy R et al. Journal of vascular and interventional radiology : JVIR 2018 29(9) 1226-1235 -
Use of Next-Generation Sequencing Tests to Guide Cancer Treatment: Results From a Nationally Representative Survey of Oncologists in the United States
AN Freedman et al, JCO, November 2018 -
Universal tumor screening for Lynch syndrome: perspectives of Canadian pathologists and genetic counselors.
Dicks Elizabeth et al. Journal of community genetics 2018 Nov -
EGFR and MET Amplifications Determine Response to HER2 Inhibition in ERBB2-Amplified Esophagogastric Cancer.
Sanchez-Vega Francisco et al. Cancer discovery 2018 Nov -
European Breast Cancer Council manifesto 2018: Genetic risk prediction testing in breast cancer.
Rutgers Emiel et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10645-53 -
Clinical relevance of screening checklists for detecting cancer predisposition syndromes in Asian childhood tumours.
Chan Sock Hoai et al. NPJ genomic medicine 2018 330 -
Evaluating Clinical Genome Sequence Analysis by Watson for Genomics.
Itahashi Kota et al. Frontiers in medicine 2018 5305 -
A narrative overview of the patients' outcomes after multigene cancer panel testing: Thorough evaluation of its implications for genetic counselling.
Esteban I et al. European journal of medical genetics 2018 Nov -
Lynch Syndrome diagnosis in Ireland: The impact of universal mismatch repair protein testing.
L Corrigan et al, JCO, November 2018 -
Non-Coding Variants in BRCA1 and BRCA2 Genes: Potential Impact on Breast and Ovarian Cancer Predisposition.
Santana Dos Santos Elizabeth et al. Cancers 2018 Nov 10(11) -
Rechallenge for Patients With RAS and BRAF Wild-Type Metastatic Colorectal Cancer With Acquired Resistance to First-line Cetuximab and Irinotecan: A Phase 2 Single-Arm Clinical Trial.
Cremolini Chiara et al. JAMA oncology 2018 Nov -
Evaluating Susceptibility to Pancreatic Cancer: ASCO Provisional Clinical Opinion.
Stoffel Elena M et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018 Nov JCO1801489 -
Analytical Validation and Clinical Utility of an Immunohistochemical Programmed Death Ligand-1 Diagnostic Assay and Combined Tumor and Immune Cell Scoring Algorithm for Durvalumab in Urothelial Carcinoma.
Zajac Magdalena et al. Archives of pathology & laboratory medicine 2018 Nov -
Germline Genetics of Prostate Cancer: Time to Incorporate Genetics into Early Detection Tools.
Fantus Richard J et al. Clinical chemistry 2018 Nov -
Germline genetic testing for inherited prostate cancer in practice: Implications for genetic testing, precision therapy, and cascade testing.
Giri Veda N et al. The Prostate 2018 Nov -
Genome-Wide Scan for Copy Number Alteration Association with Relapse-Free Survival in Colorectal Cancer with Liver Metastasis Patients.
Yang Po-Sheng et al. Journal of clinical medicine 2018 Nov 7(11) -
Clinical evaluation of a dedicated next generation sequencing panel for routine glioma diagnostics.
Synhaeve Nathalie E et al. Acta neuropathologica communications 2018 Nov 6(1) 126 -
Risk Reduction and Survival Benefit of Risk-Reducing Salpingo-oophorectomy in Hereditary Breast Cancer: Meta-analysis and Systematic Review.
Xiao Ye-Lei et al. Clinical breast cancer 2018 Oct -
Plasma Dynamics of RAS/RAF Mutations in Patients With Metastatic Colorectal Cancer Receiving Chemotherapy and Anti-EGFR Treatment.
Thomsen Caroline Brenner et al. Clinical colorectal cancer 2018 Oct -
Lessons learned from two decades of BRCA1 and BRCA2 genetic testing: the evolution of data sharing and variant classification.
Toland Amanda E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov -
A Novel Multiplex droplet digital PCR Assay to Identify and Quantify KRAS Mutations in Clinical Specimens.
Alcaide Miguel et al. The Journal of molecular diagnostics : JMD 2018 Nov -
Impact of family history of colorectal cancer on age-specific prevalence of colorectal neoplasia.
Park Chan Hyuk et al. Journal of gastroenterology and hepatology 2018 Nov -
Genetic counselling and testing of susceptibility genes for therapeutic decision-making in breast cancer-an European consensus statement and expert recommendations.
Singer Christian F et al. European journal of cancer (Oxford, England : 1990) 2018 Nov 10654-60
Chronic Disease
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Familial Mediterranean fever: breaking all the (genetic) rules.
Stella Alessandro et al. Rheumatology (Oxford, England) 2018 Nov -
Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome.
Siji Annes et al. BMC medical genetics 2018 Nov 19(1) 200
Ethics/Policy/Law
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Consent for Genetic Biobanking in a Diverse Multisite CKD Cohort.
Troost Jonathan P et al. Kidney international reports 2018 Nov 3(6) 1267-1275 -
FDA approves Āprecision medicineĀ drug for different cancers with same mutation
L McGinley, Washington Post, November 26, 2018 -
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia.
Newson Ainsley J et al. Twin research and human genetics : the official journal of the International Society for Twin Studies 2018 Nov 1-5 -
Thought leader perspectives on benefits and harms in precision medicine research.
Beskow Laura M et al. PloS one 2018 13(11) e0207842 -
Attitudes of publics who are unwilling to donate DNA data for research.
Middleton Anna et al. European journal of medical genetics 2018 Nov
Practice
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Experiences and perspectives on the return of secondary findings among genetic epidemiologists.
Stein Catherine M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov -
Genetic variation is associated with PTSD risk and aversive memory: Evidence from two trauma-Exposed African samples and one healthy European sample.
Wilker Sarah et al. Translational psychiatry 2018 Nov 8(1) 251 -
Statistical pitfalls of personalized medicine
S Senn, Nature News, November 27, 2018 -
Qualitative study of system-level factors related to genomic implementation.
Zebrowski Alexis M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Nov
Heart, Lung, Blood and Sleep Diseases
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Familial history of hypertension-induced impairment on heart rate variability was not observed in strength-trained subjects.
Santa-Rosa F A et al. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2018 Nov 51(12) e7310 -
Next-Generation Sequencing Using a Cardiac Gene Panel in Prenatally Diagnosed Cardiac Anomalies.
Lamont Ryan E et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2018 Nov 40(11) 1417-1423 -
A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in TP63 gene in Arrhythmogenic Cardiomyopathy patients.
Poloni Giulia et al. Heart rhythm 2018 Nov -
Variants in APOA5 and ADIPOQ Moderate Improvements in Metabolic Syndrome during a One-Year Lifestyle Intervention.
Lowry Dana E et al. Lifestyle genomics 2018 Nov 1-10 -
Cancer specific survival in patients with sickle cell disease.
Brunson Ann et al. British journal of haematology 2018 Nov -
Prevalence and correlates of growth failure in young African patients with sickle cell disease.
Alexandre-Heymann Laure et al. British journal of haematology 2018 Nov -
Portuguese consensus document for the management of alpha-1-antitrypsin deficiency.
Lopes A P et al. Pulmonology 2018 Dec 24 Suppl 11-21
Newborn Screening
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Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry.
Huang Zhongping et al. Journal of mass spectrometry : JMS 2018 Nov -
Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11
Pharmacogenomics
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Pharmacogenetics: The Solution for All Future Challenges?
van Gelder Teun et al. Drug research 2018 Nov 68(S 01) S24 -
Pharmacogenomics and Psychiatric Nursing.
White Michelle Marie et al. Issues in mental health nursing 2018 Nov 1-5 -
A Pharmacogenomic-based Antidepressant Treatment for Patients with Major Depressive Disorder: Results from an 8-week, Randomized, Single-blinded Clinical Trial.
Han Changsu et al. Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 2018 Nov 16(4) 469-480 -
The Case for Pharmacogenetics-Guided Prescribing of Codeine in Children.
Gammal Roseann S et al. Clinical pharmacology and therapeutics 2018 Nov -
Pharmacogenetics of treatments for inflammatory bowel disease.
Lucafò Marianna et al. Expert opinion on drug metabolism & toxicology 2018 Nov
Reproductive Health
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Refining the ethics of preimplantation genetic diagnosis: A plea for contextualized proportionality.
Dondorp Wybo et al. Bioethics 2018 Nov