Published on 02/28/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical, Immunological, and Molecular Findings in 57 Patients With Severe Combined Immunodeficiency (SCID) From India.
Aluri Jahnavi et al. Frontiers in immunology 2019 1023 -
Medical care of patients with disorders of aromatic amino acid metabolism: a report based on the Polish National Health Fund data records.
Szypowska Agnieszka et al. Pediatric endocrinology, diabetes, and metabolism 2018 2018(3) 118-125 -
The spectrum of genetic variants and phenotypic features of Southeast Asian patients with Noonan syndrome.
Koh Ai-Ling et al. Molecular genetics & genomic medicine 2019 Feb e581 -
Genetics for the Women's Health Trainee: A Five-Module Curriculum.
Dotters-Katz Sarah K et al. MedEdPORTAL : the journal of teaching and learning resources 2019 Jan 1510797 -
An International Summit in Human Genetics and Genomics: Empowering clinical practice and research in developing countries.
Kaur Manjit et al. Molecular genetics & genomic medicine 2019 Jan 7(1) e00599 -
Wilson's disease: A master of disguise.
Hedera Peter et al. Parkinsonism & related disorders 2019 Feb -
Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
Power Bradley et al. Orphanet journal of rare diseases 2019 14(1) 52 -
Analysis of the Prader-Willi syndrome imprinting center using droplet digital PCR and next-generation whole-exome sequencing.
Hartin Samantha N et al. Molecular genetics & genomic medicine 2019 Feb e575
Cancer
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Cervical Microbiome May Promote Cancer
GEN News, February 20, 2019 -
Precision medicine for locally advanced breast cancer: frontiers and challenges in Latin America.
Pinto Joseph A et al. Ecancermedicalscience 2019 13896 -
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors.
Aceto Gitana Maria et al. Breast cancer research and treatment 2019 Feb -
Disparities and Trends in Rates of Genetic Testing and Erlotinib Treatment Among Metastatic Non-Small Cell Lung Cancer Patients.
Palazzo Lauren L et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Feb -
Prediction of Oncotype Dx recurrence score using clinical parameters: A comparison of available tools and a simple predictor based on grade and progesterone receptor.
Thibodeau Stephane et al. Hematology/oncology and stem cell therapy 2019 Feb -
Therapeutic implications of germline genetic findings in cancer.
Thavaneswaran Subotheni et al. Nature reviews. Clinical oncology 2019 Feb -
Community-Based Participatory Research: a Family Health History-Based Colorectal Cancer Prevention Program Among Chinese Americans.
Li Ming et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 Feb -
Impact of Muir-Torre Syndrome on Survival in Patients With Sebaceous Carcinoma: A SEER Population-Based Study.
Tripathi Raghav et al. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2019 45(1) 148-149 -
A potpourri of pathogenetic pathways in endometrial carcinoma with a focus on Lynch Syndrome.
Wadee Reubina et al. Annals of diagnostic pathology 2019 Feb 3992-104 -
Combining urinary DNA methylation and cell-free microRNA biomarkers for improved monitoring of prostate cancer patients on active surveillance.
Zhao Fang et al. Urologic oncology 2019 Feb -
Germline DNA Repair Gene Mutations in Young-onset Prostate Cancer Cases in the UK: Evidence for a More Extensive Genetic Panel.
Leongamornlert Daniel A et al. European urology 2019 Feb -
BRAF V600E and SRC mutations as molecular markers for predicting prognosis and conversion surgery in Stage IV colorectal cancer.
Shimada Yoshifumi et al. Scientific reports 2019 Feb 9(1) 2466 -
Assessment of breast cancer risk: which tools to use?
Garcia-Closas Montserrat et al. The Lancet. Oncology 2019 Feb -
Next Generation Sequencing in AML-On the Way to Becoming a New Standard for Treatment Initiation and/or Modulation?
Leisch Michael et al. Cancers 2019 Feb 11(2) -
Economic modeling of risk-adapted screen-and-treat strategies in women at high risk for breast or ovarian cancer.
Müller Dirk et al. The European journal of health economics : HEPAC : health economics in prevention and care 2019 Feb -
Towards a more precise and individualized assessment of breast cancer risk.
Wood Marie E et al. Aging 2019 Feb -
Precision medicine beyond medical oncology: using molecular analysis to guide treatments of colorectal neoplasia.
Molloy Mark P et al. Expert review of gastroenterology & hepatology 2018 Dec 12(12) 1179-1181 -
A Review of the Management of Sporadic Colorectal Adenomas in Young People: Is Surveillance Wasted on the Young?
Bushyhead Daniel et al. Digestive diseases and sciences 2019 Feb -
Molecular profiling and targeted therapy in pediatric gliomas: review and consensus recommendations.
Miklja Zachary et al. Neuro-oncology 2019 Feb -
Systemic treatment for metastatic colorectal cancer in the era of precision medicine.
Sandhu Jaideep et al. Journal of surgical oncology 2019 Feb -
Routine Use of Oncotype DX Recurrence Score Testing in Node-Positive Hormone Receptor-Positive HER2-Negative Breast Cancer: The Time Has Come.
Mittendorf Elizabeth A et al. Annals of surgical oncology 2019 Feb -
Patterns of referral and uptake of BReast CAncer (BRCA) gene testing of eligible women with ovarian cancer in New Zealand.
Fraser Katherine et al. The New Zealand medical journal 2019 Feb 132(1490) 26-35 -
Progress report: familial pancreatic cancer.
Mintziras Ioannis et al. Familial cancer 2019 Feb
Chronic Disease
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Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
Elert-Dobkowska Ewelina et al. Neurogenetics 2019 Feb -
A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
Milone Roberta et al. Child neurology open 2019 62329048X19828881 -
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.
Scocchia Alicia et al. NPJ genomic medicine 2019 45 -
Early diagnosis of ATTR amyloidosis through targeted follow-up of identified carriers of TTR gene mutations.
Conceição Isabel et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2019 Feb 1-7 -
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY).
Horikawa Yukio et al. Current diabetes reports 2019 Feb 19(3) 12 -
Leveraging Genetics to Improve Cardiovascular Health in Diabetes: The 2018 Edwin Bierman Award Lecture.
Doria Alessandro et al. Diabetes 2019 Mar 68(3) 479-489 -
Contributions of an Internalizing Symptoms Polygenic Risk Score and Contextual Factors to Alcohol-Related Disorders in African American Young Adults.
Rabinowitz Jill Alexandra et al. Journal of studies on alcohol and drugs 2019 Jan 80(1) 77-85 -
The Continuing Evolution of Precision Health in Type 2 Diabetes: Achievements and Challenges.
Lin Yuan et al. Current diabetes reports 2019 Feb 19(4) 16 -
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study.
Karacan Ilker et al. Rheumatology international 2019 Feb
Ethics/Policy/Law
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Ethical implications of using biobanks and population databases for genetic suicide research.
Shade Jess et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 Feb -
International Divergence in Gene Patenting.
Nicol Dianne et al. Annual review of genomics and human genetics 2019 Feb
Practice
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Translating genomic medicine to the clinic: challenges and opportunities.
Zhang Huan et al. Genome medicine 2019 Feb 11(1) 9 -
Building a learning community of Australian clinical genomics: a social network study of the Australian Genomic Health Alliance.
Long Janet C et al. BMC medicine 2019 Feb 17(1) 44 -
Differences in Family Health History Knowledge Among Bisexual and Lesbian Women.
Roberts Megan C et al. LGBT health 2019 Feb -
Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.
Nisselle Amy et al. Journal of genetic counseling 2019 Feb -
A pilot eConsultation service in Eastern Ontario: bridging clinical genetics and primary care.
Bhola Priya T et al. European journal of human genetics : EJHG 2019 Feb -
ACOG Committee Opinion No. 768: Genetic Syndromes and Gynecologic Implications in Adolescents.
et al. Obstetrics and gynecology 2019 Mar 133(3) e226-e234 -
Defining evidence for precision medicine: a patient is more than a set of covariates.
Janssens A Cecile J W et al. Epidemiology (Cambridge, Mass.) 2019 Feb -
Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.
Zoltick Emilie S, et al. Genome medicine 2019 0 0. (1) 10 -
Value-Based Pricing for Emerging Gene Therapies: The Economic Case for a Higher Cost-Effectiveness Threshold.
Garrison Louis P et al. Journal of managed care & specialty pharmacy 2019 Feb 1-7 -
Genetic counseling supervisor strategies: An elaboration of the Reciprocal-Engagement Model of Supervision.
Suguitan Mike Darren et al. Journal of genetic counseling 2019 Feb -
A primer in genomics for social and behavioral investigators.
Turbitt Erin et al. Translational behavioral medicine 2019 Feb
Heart, Lung, Blood and Sleep Diseases
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New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.
Shrine Nick, et al. Nature genetics 2019 0 0. (3) 481-493 -
Knowledge Deficit of Sickle Cell Trait Status: Can Nurses Help?
Arhin Afua O et al. Critical care nursing quarterly 42(2) 198-201 -
Hemochromatosis: Hereditary hemochromatosis and HFE gene.
Katsarou Martha-Spyridoula et al. Vitamins and hormones 2019 110201-222 -
A Genetic Risk Score for Atrial Fibrillation Predicts the Response to Catheter Ablation.
Choe Won Seok et al. Korean circulation journal 2018 Dec -
Recent trends in treatment of thalassemia.
El-Beshlawy Amal et al. Blood cells, molecules & diseases 2019 Feb -
Evaluating a custom-designed aid to improve communication of genetic results in families with hypertrophic cardiomyopathy: study protocol for a randomised controlled trial.
Burns Charlotte et al. BMJ open 2019 Feb 9(1) e026627 -
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
Luirink Ilse K et al. Journal of clinical lipidology 2018 Dec -
Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.
Peña-Peña Maria Luisa et al. Revista espanola de cardiologia (English ed.) 2019 Feb -
Comparative aspects of the care of familial hypercholesterolemia in the "Ten Countries Study".
Pang Jing et al. Journal of clinical lipidology 2019 Jan -
Can Genetic Risk Scoring Predict Atrial Fibrillation Ablation Outcomes?
Lin Chin Yu et al. Korean circulation journal 2019 Feb -
A distinctive DNA methylation pattern in insufficient sleep.
Lahtinen Alexandra et al. Scientific reports 2019 Feb 9(1) 1193 -
Insomnia tied to depression, cardiovascular disease
M Prize, Science, February 25, 2019 -
Inheritance of Susceptibility to Malignant Blood Disorders.
Jønsson Viggo et al. Scientific reports 2019 Feb 9(1) 2444 -
Accuracy of Clinical Diagnostic Criteria for Patients with Vascular Ehlers-Danlos Syndrome in a Tertiary Referral Centre.
Henneton Pierrick et al. Circulation. Genomic and precision medicine 2019 Feb -
Systematic review of Quality of Life in persons with Hereditary Thoracic Aortic Aneurysm and Dissection diagnoses.
Velvin Gry et al. Clinical genetics 2019 Feb -
"A complex interface: Exploring sickle cell disease from a parent's perspective, after moving from Sub-Saharan Africa to North America".
Aiko Bruce Aisha et al. Pediatric hematology and oncology 2019 Feb 1-12
Newborn Screening
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Cost for sickle cell disease screening using isoelectric focusing with dried blood spot samples and estimation of price thresholds for a point-of-care test in Uganda.
Mvundura Mercy et al. Journal of blood medicine 2019 1059-67 -
Systems Integration: The Next Frontier in Newborn-Screening Timeliness.
Simon Norma-Jean et al. Journal of public health management and practice : JPHMP 2019 Feb
Pharmacogenomics
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CYP2C19 Genotype-Guided Antiplatelet Therapy and 30-Day Outcomes After Percutaneous Coronary Intervention.
Williams Alexis K et al. Circulation. Genomic and precision medicine 2019 Feb 12(2) e002441 -
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 Genotype and Atomoxetine Therapy.
Brown Jacob T et al. Clinical pharmacology and therapeutics 2019 Feb -
Moving pharmacoepigenetics tools for depression toward clinical use.
Hack Laura M et al. Journal of affective disorders 2019 Feb 249336-346 -
An ancillary genomics system to support the return of pharmacogenomic results.
Rasmussen Luke V et al. Journal of the American Medical Informatics Association : JAMIA 2019 Feb
Reproductive Health
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Accuracy of Routine Prenatal Genetic Screening in Patients Referred for Genetic Counseling.
Gilstrop Thompson Marisa et al. American journal of perinatology 2019 Feb -
Cost-effectiveness of preimplantation genetic testing for aneuploidies.
Somigliana Edgardo et al. Fertility and sterility 2019 Feb -
Introduction of cell-free DNA screening is associated with changes in prenatal genetic counseling indications.
Stevens Blair K et al. Journal of genetic counseling 2019 Feb -
Bayesian-based noninvasive prenatal diagnosis of single-gene disorders.
Rabinowitz Tom et al. Genome research 2019 Feb -
Technology-Driven Noninvasive Prenatal Screening Results Disclosure and Management.
Arjunan Aishwarya et al. Telemedicine journal and e-health : the official journal of the American Telemedicine Association 2019 Feb