Published on 01/03/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Systematic Review of the Genetics of Sudden Unexpected Death in Epilepsy: Potential Overlap With Sudden Cardiac Death and Arrhythmia-Related Genes.
Chahal C Anwar A et al. Journal of the American Heart Association 2020 Jan 9(1) e012264 -
Recent advances in the genetics of preterm birth.
Wadon Megan et al. Annals of human genetics 2019 Dec -
Biomarkers in autism spectrum disorders: Current progress.
Shen Liming et al. Clinica chimica acta; international journal of clinical chemistry 2019 Dec 50241-54 -
Targeted next-generation sequencing panels in the diagnosis of Charcot-Marie-Tooth disease.
Cortese Andrea et al. Neurology 2020 Jan 94(1) e51-e61 -
Methodological quality of clinical practice guidelines for genetic testing in children: A systematic assessment using the appraisal of guidelines for research and evaluation II instrument.
Jiao Xue-Feng et al. Medicine 2019 Dec 98(52) e18521 -
Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy.
Signorelli Mirko et al. Journal of cachexia, sarcopenia and muscle 2019 Dec -
The genetics of isolated congenital heart disease.
Nees Shannon N et al. American journal of medical genetics. Part C, Seminars in medical genetics 2019 Dec -
A call for global action for rare diseases in Africa.
Baynam Gareth S et al. Nature genetics 2019 Dec -
A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism.
Meinke Peter et al. EBioMedicine 2019 Dec
Cancer
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Mental Illness and BRCA1/2 Genetic Testing Intention Among Multiethnic Women Undergoing Screening Mammography.
Jones Tarsha et al. Oncology nursing forum 2020 Jan 47(1) E13-E24 -
Short-term and long-term outcomes after preventive surgery in adolescent patients with familial adenomatous polyposis.
Vitellaro Marco et al. Pediatric blood & cancer 2019 Dec e28110 -
Benefit from extended surveillance interval on colorectal cancer risk in Lynch syndrome.
Lindberg Lars Joachim et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2019 Dec -
Prognostic significance of microRNA-135 in patients with digestive system cancers: a systematic review and meta-analysis.
Chao Ce et al. Bioscience reports 2019 Dec 39(12) -
Influence of family history on risk of second primary cancers and survival in squamous cell skin cancer patients.
Chattopadhyay S et al. The British journal of dermatology 2019 Dec -
Prediction and clinical utility of a contralateral breast cancer risk model.
Giardiello Daniele et al. Breast cancer research : BCR 2019 Dec 21(1) 144 -
Increased Overall Mortality Even after Risk Reducing Surgery for BRCA -Positive Women in Western Sweden.
Öfverholm Anna et al. Genes 2019 Dec 10(12) -
Long-term overall survival and prognostic score predicting survival: the IMPACT study in precision medicine.
Tsimberidou Apostolia-Maria et al. Journal of hematology & oncology 2019 Dec 12(1) 145 -
Prospective assessment of the clinical benefit of a tailored cancer gene set built on a next-generation sequencing platform in patients with recurrent or metastatic head and neck cancer.
Westbrook Thomas C et al. Medical oncology (Northwood, London, England) 2019 Dec 37(2) 12 -
Rapid clinical mutational testing of KRAS , BRAF and EGFR : a prospective comparative analysis of the Idylla technique with high-throughput next-generation sequencing.
Van Haele Matthias et al. Journal of clinical pathology 2020 Jan 73(1) 35-41 -
Noninvasive Detection of Clinically Significant Prostate Cancer Using Circulating Tumor Cells.
Xu Lei et al. The Journal of urology 2020 203(1) 73-82 -
Predictive biomarkers in nonsmall cell carcinoma and their clinico-pathological association.
Mehta Anurag et al. South Asian journal of cancer 8(4) 250-254 -
Clinical utility of miRNA-1, miRNA-29g and miRNA-133s plasma levels in prostate cancer patients with high-intensity training after androgen-deprivation therapy.
Gazova A et al. Physiological research 2019 Nov 68(Suppl 2) S139-S147 -
Oncotype DX Breast Cancer recurrence score resists inter-assay reproducibility with RT 2 -Profiler Multiplex RT-PCR.
Schildgen Verena et al. Scientific reports 2019 Dec 9(1) 20266 -
Simultaneous germline and somatic sequencing in ovarian carcinoma: mutation rate and impact on clinical decision-making.
Jorge Soledad et al. Gynecologic oncology 2019 Dec -
Latinas' knowledge of and experiences with genetic cancer risk assessment: Barriers and facilitators.
Gómez-Trillos Sara et al. Journal of genetic counseling 2019 Dec -
Clinical feasibility of NGS liquid biopsy analysis in NSCLC patients.
Papadopoulou Eirini et al. PloS one 2019 14(12) e0226853 -
Use of detailed family history data to improve risk prediction,with application to breast cancer screening.
Jiang Yue et al. PloS one 2019 14(12) e0226407
Chronic Disease
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Ten Years of the International Parkinson Disease Genomics Consortium: Progress and Next Steps.
et al. Journal of Parkinson's disease 2019 Dec -
Predictive genetics for AMD: Hype and hopes for genetics-based strategies for treatment and prevention.
Gorin Michael B et al. Experimental eye research 2019 Dec 107894 -
Detection of Alzheimer Disease Pathology in Patients Using Biochemical Biomarkers: Prospects and Challenges for Use in Clinical Practice.
Shaw Leslie M et al. The journal of applied laboratory medicine 2019 Dec
Ethics/Policy/Law
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From Expectations to Experiences: Consumer Autonomy and Choice in Personal Genomic Testing.
Savard Jacqueline et al. AJOB empirical bioethics 2019 Dec 1-14 -
A survey of U. S. state insurance commissioners concerning genetic testing and life insurance: Redux at 27.
Golinghorst Dexter R et al. Journal of genetic counseling 2019 Dec -
Black Women's Confidence in the Genetic Information Nondiscrimination Act.
Sutton Arnethea L et al. International journal of environmental research and public health 2019 Dec 16(24) -
How Can Law Support Development of Genomics and Precision Medicine to Advance Health Equity and Reduce Disparities?
Wolf Susan M et al. Ethnicity & disease 2019 29(Suppl 3) 623-628 -
Ethical and Legal Considerations for the Inclusion of Underserved and Underrepresented Immigrant Populations in Precision Health and Genomic Research in the United States.
Wagner Jennifer K et al. Ethnicity & disease 2019 29(Suppl 3) 641-650 -
The Use of Racial Categories in Precision Medicine Research.
Callier Shawneequa L et al. Ethnicity & disease 2019 29(Suppl 3) 651-658
Practice
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Genetic counselors with advanced skills: I. Refining a model of advanced training.
Baty Bonnie J et al. Journal of genetic counseling 2019 Dec -
How to inform at-risk relatives? Attitudes of 1379 Dutch patients, relatives, and members of the general population.
Marleen van den Heuvel Lieke et al. Journal of genetic counseling 2019 Dec -
Assessing relatives' readiness for hereditary cancer cascade genetic testing.
Bednar Erica M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Dec -
Importance of family history and indications for genetic testing.
Wood Marie E et al. The breast journal 2019 Dec -
30-year journey from the start of the Human Genome Project to clinical application of genomics in psychiatry: are we there yet?
Mota Nina Roth et al. The lancet. Psychiatry 2020 Jan 7(1) 7-9 -
Genetic counselors with advanced skills: II. A new career trajectory framework.
Davis Claire et al. Journal of genetic counseling 2019 Dec -
When moments matter: Finding answers with rapid exome sequencing.
Powis Zöe et al. Molecular genetics & genomic medicine 2019 Dec e1027
Heart, Lung, Blood and Sleep Diseases
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Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?
Page Michael M et al. Clinical genetics 2019 Dec -
Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities.
Vuorio A et al. Journal of internal medicine 2020 Jan 287(1) 2-18 -
The Characteristics of Patients with Possible Familial Hypercholesterolemia- Screening a Large Payer/ProviderHealthcare Delivery System.
Elis A et al. QJM : monthly journal of the Association of Physicians 2019 Dec -
Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Miller Aaron C et al. Proceedings of the National Academy of Sciences of the United States of America 2019 Dec -
Practical Aspects in Genetic Testing for Cardiomyopathies and Channelopathies.
Lee Han-Chih Hencher et al. The Clinical biochemist. Reviews 2019 Nov 40(4) 187-200 -
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Di Taranto Maria Donata et al. European journal of medical genetics 2019 Dec 103831
Newborn Screening
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Values clarification and parental decision making about newborn genomic sequencing.
Peinado Susana et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2019 Dec -
Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec -
High throughput newborn screening for aromatic L-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots.
Brennenstuhl Heiko et al. Journal of inherited metabolic disease 2019 Dec -
Combining newborn metabolic and genetic screening for neonatal intrahepatic cholestasis caused by citrin deficiency.
Lin Yiming et al. Journal of inherited metabolic disease 2019 Dec -
Next Generation Sequencing in Newborn Screening in the United Kingdom National Health Service.
van Campen Julia C et al. International journal of neonatal screening 2019 Dec 5(4) 40 -
244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands.
Dangouloff Tamara et al. Neuromuscular disorders : NMD 2019 Nov
Pharmacogenomics
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Coverage of pharmacogenetic tests by private health insurance companies.
Park Sharon K et al. Journal of the American Pharmacists Association : JAPhA 2019 Dec -
Canadian Medication Cost Savings Associated with Combinatorial Pharmacogenomic Guidance for Psychiatric Medications.
Tanner Julie-Anne et al. ClinicoEconomics and outcomes research : CEOR 2019 11779-787 -
Genetic factors influencing warfarin dose in Black-African patients: a systematic review and meta-analysis.
Asiimwe Innocent G et al. Clinical pharmacology and therapeutics 2019 Dec -
Pharmacogenetics of methotrexate response in rheumatoid arthritis: an update.
Ling Stephanie F et al. Pharmacogenomics 2020 Jan 21(1) 3-6 -
Genetic risk assessment towards warfarin application: Saudi Arabia study with a potential to predict and prevent side effects.
Al-Saikhan Fahad I et al. Saudi journal of biological sciences 2020 Jan 27(1) 456-459 -
Does Pharmacogenomic Testing Meaningfully Improve Antidepressant Treatment Outcomes When Looking Only at Patients Taking Phase I Hepatically Metabolized Drugs? A Little.
Goldberg Joseph F et al. The Journal of clinical psychiatry 2019 Dec 80(6) -
Impact of CYP2D6 polymorphisms on tamoxifen treatment in patients with retroperitoneal fibrosis: A first step towards tailored therapy?
Dreger Nici Markus et al. Urology 2019 Dec
Reproductive Health
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Universal strategy for preimplantation genetic testing for cystic fibrosis based on next-generation sequencing.
Chamayou Sandrine et al. Journal of assisted reproduction and genetics 2019 Dec -
Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.
Scotchman Elizabeth et al. Clinical chemistry 2019 Dec -
Lessons learned from expanded reproductive carrier screening in self-reported Ashkenazi, Sephardi, and Mizrahi Jewish patients.
Akler Gidon et al. Molecular genetics & genomic medicine 2019 Dec e1053 -
Combining the use of a fetal fraction-based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy.
Benn Peter et al. Journal of genetic counseling 2019 Dec