Published on 02/11/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi Jordi et al. International journal of molecular sciences 2021 Feb 22(4)
Updates in clinical data for FDA-approved disease-modifying therapies for spinal muscular atrophy.
Bisaccia Elizabeth et al. The American journal of managed care 2021 Feb 27(1 Suppl) S3-S12
Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance.
Keinath Melissa C et al. The application of clinical genetics 2021 1411-25
Gene therapy for inherited metabolic diseases.
Yilmaz Berna Seker et al. Journal of mother and child 2020 Nov 24(2) 53-64
The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
Marwaha Ashish et al. American journal of medical genetics. Part A 2021 Feb
Towards a Precision Medicine Approach Based on Machine Learning for Tailoring Medical Treatment in Alkaptonuria.
Spiga Ottavia et al. International journal of molecular sciences 2021 Jan 22(3)
The impact of the COVID-19 pandemic on neurofibromatosis clinical care and research.
Radtke Heather B et al. Orphanet journal of rare diseases 2021 16(1) 61
DeePaN: deep patient graph convolutional network integrating clinico-genomic evidence to stratify lung cancers for immunotherapy.
Fang Chao et al. NPJ digital medicine 2021 Feb 4(1) 14
TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.
Pandey Ritu et al. Cancers 2021 Feb 13(4)
Assessment of HER2 using the 2018 ASCO/CAP guideline update for invasive breast cancer: a critical look at cases classified as HER2 2+ by immunohistochemistry.
Taylor Valerie J et al. Virchows Archiv : an international journal of pathology 2021 Feb
Routine application of next-generation sequencing testing in uro-oncology-Are we ready for the next step of personalised medicine?
Rodler Severin et al. European journal of cancer (Oxford, England : 1990) 2021 Jan 1461-10
Diagnostic value of a comprehensive, urothelial carcinoma-specific next-generation sequencing panel in urine cytology and bladder tumor specimens.
Sun Tong et al. Cancer cytopathology 2021 Feb
Clinical Impact of Adherence to NCCN Guidelines for Biomarker Testing and First-Line Treatment in Advanced Non-Small Cell Lung Cancer (aNSCLC) Using Real-World Electronic Health Record Data.
John Ani et al. Advances in therapy 2021 Feb
Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.
Fang Ying et al. Frontiers in oncology 2020 10610525
15-lncRNA-Based Classifier-Clinicopathologic Nomogram Improves the Prediction of Recurrence in Patients with Hepatocellular Carcinoma.
Zhang Qiong et al. Disease markers 2020 20209180732
Cost-Effectiveness of Targeted Genetic Testing for Breast and Ovarian Cancer: A Systematic Review.
Koldehoff Andreas et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2021 Feb 24(2) 303-312
Preliminary Screening for Hereditary Breast and Ovarian Cancer Using a Chatbot Augmented Intelligence Genetic Counselor: Development and Feasibility Study.
Sato Ann et al. JMIR formative research 2021 Feb 5(2) e25184
Familial Colorectal Cancer and Genetic Susceptibility: Colorectal Risk Variants in First-Degree Relatives of Patients With Colorectal Cancer.
Gargallo-Puyuelo Carla J et al. Clinical and translational gastroenterology 2021 Feb 12(2) e00301
Family history of prostate cancer and prostate tumor aggressiveness in black and non-black men;results from an equal access biopsy study.
Jenkins Kimberly R et al. Cancer causes & control : CCC 2021 Feb
Downstream Revenue Generated by a Cancer Genetic Counselor.
Mauer Caitlin B et al. JCO oncology practice 2021 Feb OP2000464
Cancer Risk Reduction Through Education of Adolescents: Development of a Tailored Cancer Risk-Reduction Educational Tool.
Zeinomar Nur et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2021 Feb
Women's Views on Multifactorial Breast Cancer Risk Assessment and Risk-Stratified Screening: A Population-Based Survey from Four Provinces in Canada.
Mbuya Bienge Cynthia et al. Journal of personalized medicine 2021 Feb 11(2)
First-degree family history of prostate cancer is associated the risk of breast cancer and ovarian cancer.
Zheng QiongFei et al. Medicine 2021 Jan 100(4) e23816
Genetic counselor approaches to BRCA1/2 direct-to-consumer genetic testing results.
Burke Sarah et al. Journal of genetic counseling 2021 Feb
Genetics of Polycystic Ovary Syndrome: What is New?
Welt Corrine K et al. Endocrinology and metabolism clinics of North America 2021 Mar 50(1) 71-82
Improved prediction of fracture risk leveraging a genome-wide polygenic risk score.
Lu Tianyuan et al. Genome medicine 2021 Feb 13(1) 16
Genome-wide genetic links between amyotrophic lateral sclerosis and autoimmune diseases.
Li Chun Yu et al. BMC medicine 2021 Feb 19(1) 27
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
Domingo-Gallego Andrea et al. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2021 Feb
Barriers and strategies to integrate medical genetics and primary care in underserved populations: a scoping review.
Chou Ann F et al. Journal of community genetics 2021 Feb
Implementing genomic screening in diverse populations.
Abul-Husn Noura S et al. Genome medicine 2021 Feb 13(1) 17
GUÍA: a digital platform to facilitate result disclosure in genetic counseling.
Suckiel Sabrina A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb
Implementation outcomes of Humanwide: integrated precision health in team-based family practice primary care.
Brown-Johnson Cati G et al. BMC family practice 2021 Feb 22(1) 28
Heart, Lung, Blood and Sleep Diseases
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.
Doi Takahito et al. Journal of the American Heart Association 2021 Feb e018263
The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case.
Wand Hannah et al. Current opinion in lipidology 2021 Feb
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
Beckers Pablo et al. Scientific reports 2021 Feb 11(1) 3011
Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping.
Chen Chao et al. Genome medicine 2021 Feb 13(1) 18
A Rapid PCR-Free Next-Generation Sequencing Method for the Detection of Copy Number Variations in Prenatal Samples.
Zhou Xiya et al. Life (Basel, Switzerland) 2021 Jan 11(2)
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
Guadagnolo Daniele et al. Diagnostics (Basel, Switzerland) 2021 Feb 11(2)
The cost-effectiveness of preimplantation genetic testing for aneuploidy in the United States: An analysis of cost and birth outcomes from 158,665 in vitro fertilization cycles.
Lee Malinda et al. American journal of obstetrics and gynecology 2021 Feb