Published on 10/24/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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
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
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