Published on 01/07/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Autism Spectrum Disorder Genetics and the Search for Pathological Mechanisms.
Manoli Devanand S et al. The American journal of psychiatry 2021 Jan 178(1) 30-38
Exome Sequencing for Isolated Congenital Hearing Loss: A Cost-Effectiveness Analysis.
Downie Lilian et al. The Laryngoscope 2020 Dec
Fabry Disease Therapy: State-of-the-Art and Current Challenges.
Azevedo Olga et al. International journal of molecular sciences 2020 Dec 22(1)
GeneBreaker - Variant simulation to improve the diagnosis of Mendelian rare genetic diseases.
Richmond Phillip A et al. Human mutation 2020 Dec
Whole Exome Sequencing Identifies Novel De Novo Variants Interacting with Six Gene Networks in Autism Spectrum Disorder.
Kim Namshin et al. Genes 2020 Dec 12(1)
Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.
Wang Zheng et al. Brain sciences 2020 Dec 11(1)
Effect of Genetic Testing on Diagnosing Gastrointestinal Pediatric Patients with Previously Undiagnosed Diseases.
Altamimi Eyad et al. The application of clinical genetics 2020 13221-231
The genomic landscape of breast cancer brain metastases: a systematic review.
Morgan Alexander J et al. The Lancet. Oncology 2021 Jan 22(1) e7-e17
Biomarker testing in non-small cell lung cancer in routine care: Analysis of the first 3,717 patients in the German prospective, observational, nation-wide CRISP Registry (AIO-TRK-0315).
Griesinger Frank et al. Lung cancer (Amsterdam, Netherlands) 2020 Nov
MYC DNA Methylation in Prostate Tumor Tissue Is Associated with Gleason Score.
Barry Kathryn Hughes et al. Genes 2020 Dec 12(1)
Prevalence of Lynch syndrome in women with mismatch repair-deficient ovarian cancer.
Hodan Rachel et al. Cancer medicine 2020 Dec
Racial and ethnic disparities in germline genetic testing of patients with young-onset colorectal cancer.
Dharwadkar Pooja et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 Dec
Family Health History-Based Cancer Prevention Training for Community Health Workers.
Chen Wei-Ju et al. American journal of preventive medicine 2020 Dec
A Panel of Six Biomarkers Significantly Improves the Prediction of Type 2 Diabetes in the MONICA/KORA Study Population.
Thorand Barbara et al. The Journal of clinical endocrinology and metabolism 2020 Dec
Who and Why? Requests for Presymptomatic Genetic Testing for Amyotrophic Lateral Sclerosis/Frontotemporal Dementia vs Huntington Disease.
Amador Maria Del Mar et al. Neurology. Genetics 2021 Feb 7(1) e538
Impact of Genetic Factors on the Age of Onset for Type 2 Diabetes Mellitus in Addition to the Conventional Risk Factors.
Piko Peter et al. Journal of personalized medicine 2020 Dec 11(1)
Making a family decision to donate the brain for genomic research: lessons from the genotype-tissue expression project (GTEx).
Siminoff Laura A et al. Cell and tissue banking 2021 Jan
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations.
D'Angelo Carla S et al. Frontiers in pediatrics 2020 8579924
A Framework to Ethically Approach Incidental Findings in Genetic Research.
Beshir Lamis et al. EJIFCC 2020 Nov 31(4) 302-309
Implementation Science to Increase Adoption of Genomic Medicine: An Urgent Need.
Bangash Hana et al. Journal of personalized medicine 2020 Dec 11(1)
Pondering the future of genetic counseling: An adolescent field comes of age.
Hercher Laura et al. Journal of genetic counseling 2020 Dec
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing.
Milo Rasouly Hila et al. Journal of genetic counseling 2020 Dec
Heart, Lung, Blood and Sleep Diseases
Barriers, facilitators, and solutions to familial hypercholesterolemia treatment.
Jones Laney K et al. PloS one 2020 15(12) e0244193
Familial pulmonary fibrosis - guidelines for diagnostics and treatment.
Šterclová Martina et al. Vnitrni lekarstvi 2020 66(6) 365-370
Long-term prognosis of women with Brugada syndrome and Electrophysiologic study.
Rodríguez-Mañero Moisés et al. Heart rhythm 2020 Dec
Diagnosis, family screening, and treatment of inherited arrhythmogenic diseases in Europe: results of the European Heart Rhythm Association Survey.
Conte Giulio et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Dec 22(12) 1904-1910
PCSK-9 Inhibitors in a Real-World Setting and a Comparison Between Alirocumab and Evolocumab in Heterozygous FH Patients.
Ceballos-Macías José Juan et al. Journal of the Endocrine Society 2021 Jan 5(1) bvaa180
At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.
Lukacs Zoltan et al. International journal of neonatal screening 2020 Dec 6(4)
Newborn Screening for Cystic Fibrosis: Infant and Laboratory Factors Affecting Successful Sweat Test Completion.
Shenoy Ambika et al. International journal of neonatal screening 2020 Dec 7(1)
Advances in Newborn Screening and Presymptomatic Diagnosis of Spinal Muscular Atrophy.
Jedrzejowska Maria et al. Degenerative neurological and neuromuscular disease 2020 1039-47
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for CYP2D6, OPRM1, and COMT genotype and select opioid therapy.
Crews Kristine R et al. Clinical pharmacology and therapeutics 2021 Jan
Clinical implementation of preemptive pharmacogenomics in psychiatry: Τhe "PREPARE" study.
Tsermpini E E et al. Psychiatrike = Psychiatriki 31(4) 341-351
Clinical validation of combinatorial pharmacogenomic testing and single-gene guidelines in predicting psychotropic medication blood levels and clinical outcomes in patients with depression.
Rothschild Anthony J et al. Psychiatry research 2020 Dec 296113649
Characterization of Pharmacogenetic Information in Food and Drug Administration Drug Labeling and the Table of Pharmacogenetic Associations.
Cheng Christine M et al. The Annals of pharmacotherapy 2020 Dec 1060028020983049
Practical Barriers and Facilitators Experienced by Patients, Pharmacists and Physicians to the Implementation of Pharmacogenomic Screening in Dutch Outpatient Hospital Care-An Explorative Pilot Study.
Lanting Pauline et al. Journal of personalized medicine 2020 Dec 10(4)
Assessment and clinical utility of pharmacogenomics by healthcare practitioners in North Carolina.
Raccor Brianne S et al. Pharmacogenomics 2020 Dec
Pharmacogenomics at the Point of Care: A Community Pharmacy Project in British Columbia.
Breaux Samantha et al. Journal of personalized medicine 2020 Dec 11(1)
Evaluation of a Microhaplotype-Based Noninvasive Prenatal Test in Twin Gestations: Determination of Paternity, Zygosity, and Fetal Fraction.
Bai Zhaochen et al. Genes 2020 Dec 12(1)
Clinical Significance of Non-Invasive Prenatal Screening for Trisomy 7: Cohort Study and Literature Review.
Zhu Xiaofan et al. Genes 2020 Dec 12(1)