Published on 10/24/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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The use or generation of biomedical data and existing medicines to discover and establish new treatments for patients with rare diseases - recommendations of the IRDiRC Data Mining and Repurposing Task Force.
Southall Noel T et al. Orphanet journal of rare diseases 2019 Oct 14(1) 225 -
Toward Clinical Implementation of Next-Generation Sequencing-Based Genetic Testing in Rare Diseases: Where Are We?
Liu Zhichao et al. Trends in genetics : TIG 2019 Oct -
Clinical Diagnostic Exome Sequencing in Dystonia: Genetic Testing Challenges for Complex Conditions.
Powis Zöe et al. Clinical genetics 2019 Oct -
Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing.
Homma Thais Kataoka et al. The Journal of pediatrics 2019 Oct -
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic Jelena Ruml et al. Journal of child neurology 2019 Oct 883073819879835
Cancer
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The Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) : A representative and useful real-life data source for further biomedical research.
Geissler Klaus et al. Wiener klinische Wochenschrift 2019 Sep 131(17-18) 410-418 -
Cases in Precision Medicine: The Role of Tumor and Germline Genetic Testing in Breast Cancer Management.
Tischler Jonah et al. Annals of internal medicine 2019 Oct -
Broad- and narrow-sense validity performance of three polygenic risk score methods for prostate cancer risk assessment.
Yu Hongjie et al. The Prostate 2019 Oct -
Decision Making About Genetic Testing Among Women With a Personal and Family History of Breast Cancer.
Scott Danika et al. Journal of oncology practice 2019 Oct JOP1900221 -
Cost-effectiveness of Active Identification and Subsequent Colonoscopy Surveillance of Lynch Syndrome Cases.
Peterse Elisabeth F P et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Oct -
Association between FGFR1 copy numbers, MAP3K1 mutations, and survival in axillary node-positive, hormone receptor-positive, and HER2-negative early breast cancer in the PACS04 and METABRIC studies.
Carene Dimitri et al. Breast cancer research and treatment 2019 Oct -
Ethnic disparities among men with prostate cancer undergoing germline testing.
Kwon Daniel Hyuck-Min et al. Urologic oncology 2019 Oct -
Prostate cancer genetic testing: NCCN familial high-risk assessment: breast/ovarian.
Daly Mary B et al. The Canadian journal of urology 2019 Oct 26(5S2) 29-30 -
The prognostic value of long noncoding RNA SNHG16 on clinical outcomes in human cancers: a systematic review and meta-analysis.
Zhang Chenghao et al. Cancer cell international 2019 19261 -
Clinical factors associated with urinary tract cancer in individuals with Lynch syndrome.
Wischhusen Jonathan W et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2019 Oct -
PD-1-Associated Gene Expression Signature of Neoadjuvant Trastuzumab-Treated Tumors Correlates with Patient Survival in HER2-Positive Breast Cancer.
Hendricks William P D et al. Cancers 2019 Oct 11(10) -
Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Dominguez-Valentin Mev, et al. Hereditary cancer in clinical practice 2019 0 0. 28 -
Germline testing for prostate cancer: community urology perspective.
Concepcion Raoul S et al. The Canadian journal of urology 2019 Oct 26(5S2) 50-51 -
Current recommendations for prostate cancer genetic testing: NCCN prostate guideline.
Mohler James L et al. The Canadian journal of urology 2019 Oct 26(5S2) 34-37 -
Introduction to the 2019 Philadelphia Prostate Cancer Consensus Program: 'Implementation of Genetic Testing for Inherited Prostate Cancer'.
Gomella Leonard G et al. The Canadian journal of urology 2019 Oct 26(5S2) 1-4
Chronic Disease
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Predictive genetic biomarkers for the efficacy of methotrexate in rheumatoid arthritis: a systematic review.
Eektimmerman Frank et al. The pharmacogenomics journal 2019 Oct -
A pharmacogenetic risk score for the evaluation of major depression severity under treatment with antidepressants.
Kanders Sofia H et al. Drug development research 2019 Oct
Ethics/Policy/Law
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Engaging research ethics committees to develop an ethics and governance framework for best practices in genomic research and biobanking in Africa: the H3Africa model.
Tindana Paulina et al. BMC medical ethics 2019 Oct 20(1) 69 -
Supporting Patient Autonomy and Informed Decision-Making in Prenatal Genetic Testing.
Stoll Katie et al. Cold Spring Harbor perspectives in medicine 2019 Oct
Practice
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Genetics professionals' experiences of facilitating parent/child communication through the genetic clinic.
Keenan Karen F et al. Journal of genetic counseling 2019 Oct -
Alternate delivery models for genetic counseling: clinical and implementation considerations.
Rahm Alanna Kulchak et al. The Canadian journal of urology 2019 Oct 26(5S2) 42-43
Heart, Lung, Blood and Sleep Diseases
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Predicting intention to participate in self-management behaviors in patients with Familial Hypercholesterolemia: A cross-national study.
Hagger Martin S et al. Social science & medicine (1982) 2019 Oct 242112591 -
Hereditary angioedema: a prospective study of a Brazilian single-center cohort.
Alonso Maria L O et al. International journal of dermatology 2019 Oct -
Marfan syndrome in adolescence: adolescents' perspectives on (physical) functioning, disability, contextual factors and support needs.
Warnink-Kavelaars Jessica et al. European journal of pediatrics 2019 Oct -
A genetic risk score predicts recurrent events after myocardial infarction in young adults.
Rincón Luis M et al. Revista espanola de cardiologia (English ed.) 2019 Oct
Newborn Screening
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Factors affecting the growth of infants diagnosed with cystic fibrosis by newborn screening.
Patterson K D et al. BMC pediatrics 2019 Oct 19(1) 356 -
Informing New Mothers about Newborn Screening Bloodspot Repositories during Postpartum Hospitalization.
Newcomb Patricia et al. MCN. The American journal of maternal child nursing 44(6) 332-337 -
Universal Newborn Screening for Severe Combined Immunodeficiency (SCID).
van der Burg Mirjam et al. Frontiers in pediatrics 2019 7373 -
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang Benjing et al. Frontiers in genetics 2019 10811
Pharmacogenomics
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The Impact of CYP3A4*22 on Tacrolimus Pharmacokinetics and Outcome in Clinical Practice at a Single Kidney Transplant Center.
Abdel-Kahaar Emaad et al. Frontiers in genetics 2019 10871 -
Utilizing a user-centered approach to develop and assess pharmacogenomic clinical decision support for thiopurine methyltransferase.
Nguyen Khoa A et al. BMC medical informatics and decision making 2019 Oct 19(1) 194 -
The Three Ps: Psychiatry, Pharmacy, and Pharmacogenomics, a Brief Report From New Zealand.
Maggo Simran D S et al. Frontiers in psychiatry 2019 10690
Reproductive Health
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Current landscape of prenatal genetic screening and testing.
Krstic Nevena et al. Birth defects research 2019 Oct -
Male factor infertility impacts the rate of mosaic blastocysts in cycles of preimplantation genetic testing for aneuploidy.
Tarozzi Nicoletta et al. Journal of assisted reproduction and genetics 2019 Oct -
The impact of preimplantation genetic testing on prenatal diagnostic procedures.
Gulersen Moti et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2019 Oct 1-4 -
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
Hui Lisa et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2019 Oct -
Screening of Fetal Chromosomal Aneuploidy by Noninvasive Prenatal Testing: From Innovation to Setting Public Health Agendas to Potential Impact on Other Fields.
Dennis Lo Y M et al. Clinical chemistry 2019 Oct