Published on 04/01/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.
Lochmüller Hanns et al. Orphanet journal of rare diseases 2021 16(1) 141
Artificial intelligence-assisted phenotype discovery of fragile X syndrome in a population-based sample.
Movaghar Arezoo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.
Feofanova Elena Valeryevna et al. JMIR research protocols 2021 10(3) e25576
Patients' and caregivers' maximum acceptable risk of death for non-curative gene therapy to treat Duchenne muscular dystrophy.
Peay Holly L et al. Molecular genetics & genomic medicine 2021 e1664
Comorbidities associated with genetic abnormalities in children with intellectual disability.
Chen Jia-Shing et al. Scientific reports 2021 11(1) 6563
Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.
Martinez-Granero Francisco et al. NPJ genomic medicine 2021 6(1) 25
Extended gene panel testing in lobular breast cancer.
van Veen Elke M et al. Familial cancer 2021
Correlative analysis between two commercially available post-prostatectomy genomic tests.
Shahait Mohammed et al. Prostate cancer and prostatic diseases 2021
Laboratory and Clinical Implications of Incidental and Secondary Germline Findings During Tumor Testing.
Cushman-Vokoun Allison et al. Archives of pathology & laboratory medicine 2021
Real-life use of BRAF-V600E mutation analysis in thyroid nodule fine needle aspiration: consequences on clinical decision-making.
Brigante Giulia et al. Endocrine 2021
A New RBPs-Related Signature Predicts the Prognosis of Colon Adenocarcinoma Patients.
Chang Kaili et al. Frontiers in oncology 2021 11627504
Association Between Oncotype DX Genomic Prostate Score and Adverse Tumor Pathology After Radical Prostatectomy.
Covas Moschovas Marcio et al. European urology focus 2021
Clinical implementation of an oncology-specific family health history risk assessment tool.
Fung Si Ming et al. Hereditary cancer in clinical practice 2021 19(1) 20
Knowledge and psychosocial impact of genetic counseling and multigene panel testing among individuals with ovarian cancer.
Pozzar Rachel A et al. Familial cancer 2021
Effectiveness of a cancer risk prediction tool on lifestyle habits: a randomized controlled trial.
Yuwaki Keiichi et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021
Developing and validating an individualized breast cancer risk prediction model for women attending breast cancer screening.
Louro Javier et al. PloS one 2021 16(3) e0248930
Germline evaluation of patients undergoing tumor genomic profiling: An academic cancer center's experience with implementing a germline review protocol.
Stachowiak Samantha et al. Journal of genetic counseling 2021
Interval between the First Cancer and the Genetic Diagnosis in Lynch Syndrome Probands.
Yamashita Kentaro et al. Internal medicine (Tokyo, Japan) 2021
Incidental findings in a series of 2500 gene panel tests for a genetic predisposition to cancer: Results and Impact on patients.
Nambot S et al. European journal of medical genetics 2021 104196
Financial constraints on genetic counseling and further risk-management decisions among U.S. women at elevated breast cancer risk.
Meadows Rachel J et al. Journal of genetic counseling 2021
High likelihood of actionable pathogenic variant detection in breast cancer genes in women with very early onset breast cancer.
Evans D Gareth et al. Journal of medical genetics 2021
Evaluation of the Clinical Features Accompanied by the Gene Mutations: The 2 Novel PSEN1 Variants in a Turkish Early-onset Alzheimer Disease Cohort.
Eryilmaz Isil E et al. Alzheimer disease and associated disorders 2021
Social epigenomics: are we at an impasse?
Non Amy L et al. Epigenomics 2021
Primum Non Nocere: Should Gene Therapy be Used to Prevent Potentially Fatal Disease but Enable Potentially Destructive Behavior?
Crystal Ronald G et al. Human gene therapy 2021
Meeting the challenge: Health information technology's essential role in achieving precision medicine.
Zayas-Cabán Teresa et al. Journal of the American Medical Informatics Association : JAMIA 2021
Heart, Lung, Blood and Sleep Diseases
When do paediatric patients with familial hypercholesterolemia need statin therapy?
Hennig Matylda et al. Journal of mother and child 2021 21(1) 43-50
Impact of statin therapy on LDL and non-HDL cholesterol levels in subjects with heterozygous familial hypercholesterolaemia.
Climent Elisenda et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2021
Familial Hypercholesterolemia Identification Algorithm in Patients with Acute Cardiovascular Events in A Large Hospital Electronic Database in Bulgaria: A Call for Implementation.
Petrov Ivo et al. Advances in therapy 2021
[TREATMENT OF HOMOZYGOTES OF FAMILIAL HYPERCHOLESTEROLEMIA: RECOMMENDATIONS OF THE ISRAELI SOCIETY OF ATHEROSCLEROSIS].
Cohen Hofit et al. Harefuah 2021 160(3) 170-174
Genetic Risk Assessment for Atherosclerotic Cardiovascular Disease: A Guide for the General Cardiologist.
Belanger Matthew J et al. Cardiology in review 2021
Discordant results between conventional newborn screening and genomic sequencing in the BabySeq Project.
Wojcik Monica H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Increased detection of primary carnitine deficiency through second-tier newborn genetic screening.
Lin Yiming et al. Orphanet journal of rare diseases 2021 16(1) 149
Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics.
Wasik Kaja et al. BMC genomics 2021 22(1) 197
Pharmacogenomics in Pain Management: A Review of Relevant Gene-Drug Associations and Clinical Considerations.
Brandl Emily et al. The Annals of pharmacotherapy 2021 10600280211003875
Genomic markers associated with successful treatment of hypertension with lisinopril: A pilot study.
Flaten Hania K et al. International journal of clinical pharmacology and therapeutics 2021
Genotype-Guided Antiplatelet Therapy in Patients With Coronary Artery Disease.
Franchi Francesco et al. JACC. Cardiovascular interventions 2021
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Najafi Kimia et al. Scientific reports 2021 11(1) 6952
An intrauterine genomic classifier reliably delineates the location of nonviable pregnancies.
Lentscher Jessica A et al. Fertility and sterility 2021
Application of Copy Number Variation Sequencing in Genetic Analysis of Miscarriages in Early and Middle Pregnancy.
Luo Shiqiang et al. Cytogenetic and genome research 2021 1-9
Is it time to report carrier state for recessive disorders in every microarray analysis?-A pilot model based on hearing loss genes deletions.
Maya Idit et al. European journal of human genetics : EJHG 2021
Clinical application of sequencing-based methods for parallel preimplantation genetic testing for mitochondrial DNA disease and aneuploidy.
Spath Katharina et al. Fertility and sterility 2021
Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population.
Conijn Thirsa et al. Journal of community genetics 2021