Published on 10/03/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini Enrico et al. Neuromuscular disorders : NMD 2019 Aug -
Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis.
Balasubramanian Meena et al. Molecular genetics & genomic medicine 2019 Sep e912 -
Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep -
Long-read sequencing for rare human genetic diseases.
Mitsuhashi Satomi et al. Journal of human genetics 2019 Sep -
The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
GoodSmith Matthew S et al. Diabetes care 2019 Sep -
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center.
Hoelz Hannes et al. Clinical EEG and neuroscience 2019 Sep 1550059419876518
Cancer
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Development and External Validation of a Novel 12-Gene Signature for Prediction of Overall Survival in Muscle-Invasive Bladder Cancer.
Abudurexiti MierXiati et al. Frontiers in oncology 2019 9856 -
Expression Profiling of Circulating Tumor Cells in Pancreatic Ductal Adenocarcinoma Patients: Biomarkers Predicting Overall Survival.
Amantini Consuelo et al. Frontiers in oncology 2019 9874 -
Matched Whole-Genome Sequencing (WGS) and Whole-Exome Sequencing (WES) of Tumor Tissue with Circulating Tumor DNA (ctDNA) Analysis: Complementary Modalities in Clinical Practice.
Imperial Robin et al. Cancers 2019 Sep 11(9) -
What information do healthcare professionals need to inform premenopausal women about risk-reducing salpingo-oophorectomy?
Hickey Martha et al. Menopause (New York, N.Y.) 2019 Sep -
Molecular Screening of Nasopharyngeal Carcinoma: Detection of LMP-1, LMP-2 Gene Expression in Vietnamese Nasopharyngeal Swab Samples.
Lao Thuan Duc et al. Asian Pacific journal of cancer prevention : APJCP 2019 20(9) 2757-2761 -
Hereditary breast cancer: screening and risk reducing surgery.
Renzulli Matteo et al. Gland surgery 2019 Sep 8(Suppl 3) S142-S149 -
Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study.
Brédart Anne et al. BMJ open 2019 Sep 9(9) e029926 -
Semen miRNAs Contained in Exosomes as Non-Invasive Biomarkers for Prostate Cancer Diagnosis.
Barcel? Maria et al. Scientific reports 2019 Sep 9(1) 13772 -
Selecting Patients for Oncotype DX Testing Using Standard Clinicopathologic Information.
Robertson Susan J et al. Clinical breast cancer 2019 Aug -
Breast Cancer Chemoprevention: A Practical Guide for the Primary Care Provider.
Farkas Amy et al. Journal of women's health (2002) 2019 Sep -
---Comprehensive transcriptomic profiling identifies breast cancer patients who may be spared adjuvant systemic therapy.
Sjöström Martin et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Sep -
A Value of Information Analysis of Research on the 21-Gene Assay for Breast Cancer Management.
Kunst Natalia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2019 Oct 22(10) 1102-1110 -
Screening patients at high risk for pancreatic cancer-Is it time for a paradigm shift?
Lo Winifred et al. Journal of surgical oncology 2019 Oct 120(5) 851-857 -
A Consensus Molecular Classification of Muscle-invasive Bladder Cancer.
Kamoun Aur?lie et al. European urology 2019 Sep -
Type 2 diabetes mellitus, blood cholesterol, triglyceride and colorectal cancer risk in Lynch syndrome.
Dashti S Ghazaleh et al. British journal of cancer 2019 Sep -
Patients' willingness to reconsider cancer genetic testing after initially declining: Mention it again.
Halverson Colin M E et al. Journal of genetic counseling 2019 Sep -
Recontacting patients for multigene panel testing in hereditary cancer: Efficacy and insights.
Sawyer Lindsey et al. Journal of genetic counseling 2019 Sep -
Variation in nomenclature of somatic variants for selection of oncological therapies: can we reach a consensus soon?
Keppens Cleo et al. Human mutation 2019 Sep
Ethics/Policy/Law
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How American Nurses Association Code of Ethics informs genetic/genomic nursing.
Tluczek Audrey et al. Nursing ethics 2019 Aug 26(5) 1505-1517 -
Ethical Challenges of Germline Genetic Enhancement.
Macpherson Ignacio et al. Frontiers in genetics 2019 10767 -
Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
Andrews Katrina et al. Archives of disease in childhood 2019 Sep -
Discouraging Elective Genetic Testing of Minors: A Norm under Siege in a New Era of Genomic Medicine.
Hercher Laura et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Legal Challenges in Genetics, Including Duty to Warn and Genetic Discrimination.
Suter Sonia et al. Cold Spring Harbor perspectives in medicine 2019 Sep -
Challenges to informed consent for exome sequencing: A best-worst scaling experiment.
Gore Rachel H et al. Journal of genetic counseling 2019 Sep
Practice
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Genetic testing in neurology exploiting next generation sequencing: state of art.
Di Resta Chiara et al. Neural regeneration research 2020 Feb 15(2) 265-266
Heart, Lung, Blood and Sleep Diseases
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Application of detection of mutations in blood and immunodeficiency genes in the diagnosis of HLH patients.
Mo Wenyuan et al. Experimental hematology 2019 Sep -
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Kühnisch Jirko et al. Clinical genetics 2019 Sep -
Next-generation sequencing for the diagnosis of MYH9-RD: predicting pathogenic variants.
Bury Loredana et al. Human mutation 2019 Sep -
Atrial Fibrillation Genetics Update: Toward Clinical Implementation.
Kalstø Silje Madeleine et al. Frontiers in cardiovascular medicine 2019 6127 -
Parental Attitudes Towards Prenatal Genetic Testing For Sickle Cell Disease.
Stevens Evelyn M et al. Journal of pediatric hematology/oncology 2019 Sep -
Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI.
Georgi Benjamin et al. Stroke 2019 Sep STROKEAHA119026545 -
Pharmacogenomics and Placebo Response in a Randomized Clinical Trial in Asthma.
Wang Rui-Sheng et al. Clinical pharmacology and therapeutics 2019 Sep -
Psychological Issues in Managing Families with Inherited Cardiovascular Diseases.
Ingles Jodie et al. Cold Spring Harbor perspectives in medicine 2019 Sep
Newborn Screening
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Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China.
Dai Pu et al. American journal of human genetics 2019 Sep -
Practice variation of genetic counselor engagement in the cystic fibrosis newborn screen-positive diagnostic resolution process.
Langfelder-Schwind Elinor et al. Journal of genetic counseling 2019 Sep -
What to Do with an Abnormal Newborn Screen for Severe Combined Immune Deficiency.
Chong Hey J et al. Immunology and allergy clinics of North America 2019 Nov 39(4) 535-546 -
Lessons learnt from implementing change in newborn bloodspot screening processes over more than a decade: Midwives, genetics and education.
Nisselle Amy et al. Midwifery 2019 Sep 79102542
Pharmacogenomics
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Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing.
Suzuki Oscar et al. Pharmacogenomics 2019 Sep 20(14) 1005-1020 -
Cost-effectiveness Analysis of CYP2D6*10 Pharmacogenetic Testing to Guide the Adjuvant Endocrine Therapy for Postmenopausal Women with Estrogen Receptor Positive Early Breast Cancer in China.
Wei Xiaoxia et al. Clinical drug investigation 2019 Sep -
Pharmacogenetic testing in primary care.
Parve Julie et al. The Nurse practitioner 2019 Oct 44(10) 44-49
Reproductive Health
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Noninvasive prenatal testing: from aneuploidy to single genes.
Guseh Stephanie H et al. Human genetics 2019 Sep -
Clinical value of genetic analysis in prenatal diagnosis of short femur.
Liu Jialiu et al. Molecular genetics & genomic medicine 2019 Sep e978 -
Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial.
Munné Santiago et al. Fertility and sterility 2019 Sep -
Noninvasive Prenatal Diagnosis for Cystic Fibrosis: Implementation, Uptake, Outcome, and Implications.
Chandler Natalie J et al. Clinical chemistry 2019 Sep -
Before the beginning: the genetic risk of a couple aiming to conceive.
Simpson Joe Leigh et al. Fertility and sterility 2019 Oct 112(4) 622-630