News and Publications
Birth Defects and Child Health
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources.
Masri Amira T et al. Clinical neurology and neurosurgery 2022 217107271
Testing for rare genetic causes of obesity: findings and experiences from a pediatric weight management program.
Roberts Karyn J et al. International journal of obesity (2005) 2022
Recommendations for next generation sequencing data reanalysis of unsolved cases with suspected Mendelian disorders: A systematic review and meta-analysis.
Dai Pei et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Familial risk for bipolar I disorder is associated with erythrocyte omega-3 polyunsaturated fatty acid deficits in youth with attention-deficit hyperactivity disorder.
Mc Namara Robert K et al. Psychiatry research 2022 313114587
Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.
Citro Rodolfo et al. Frontiers in cardiovascular medicine 2022 9838200
Establishment of prognostic risk model and drug sensitivity based on prognostic related genes of esophageal cancer.
Dai Jingjing et al. Scientific reports 2022 12(1) 8008
Comprehensive genome profiling by next generation sequencing of circulating tumor DNA in solid tumors: a single academic institution experience.
Caputo Vincenza et al. Therapeutic advances in medical oncology 2022 1417588359221096878
Negative Ultraselection of Patients With RAS/BRAF Wild-Type, Microsatellite-Stable Metastatic Colorectal Cancer Receiving Anti-EGFR-Based Therapy.
Randon Giovanni et al. JCO precision oncology 2022 6e2200037
Effects of Metastatic Sites on Circulating Tumor DNA in Patients With Metastatic Colorectal Cancer.
Bando Hideaki et al. JCO precision oncology 2022 6e2100535
Molecular Profiles of Advanced Urological Cancers in the PERMED-01 Precision Medicine Clinical Trial.
Billon Emilien et al. Cancers 2022 14(9)
A Novel Machine Learning 13-Gene Signature: Improving Risk Analysis and Survival Prediction for Clear Cell Renal Cell Carcinoma Patients.
Terrematte Patrick et al. Cancers 2022 14(9)
Circulating Tumor DNA Is Associated with Response and Survival in Patients with Advanced Leiomyosarcoma.
Madanat-Harjuoja Laura M et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 OF1-OF8
Exhaled Breath Condensate (EBC) analysis of circulating tumour DNA (ctDNA) using a lung cancer specific UltraSEEK oncogene panel.
Ryan Daniel J et al. Lung cancer (Amsterdam, Netherlands) 2022 16867-73
RNA-Seq and Recurrence Risk Testing for Breast Cancer: Implications for Patient Education.
Soneral Paula et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
Prognostic Potential of a PSAT1-Associated Gene Signature in Identifying High-Risk Patients in Early-Stage EGFR-Mutant Lung Cancer.
Biyik-Sit Rumeysa et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
Variable Genomic Landscapes of Advanced Melanomas with Heavy Pigmentation.
Huang Richard S P et al. The oncologist 2022
Diagnostic Impact of Next-Generation Sequencing Panels for Lymphoproliferative Neoplasms on Small-Volume Biopsies.
Fei Fei et al. American journal of clinical pathology 2022
RecQ mediated genome instability 2 (RMI2): a potential prognostic and immunological biomarker for pan-cancers.
Wei Wei et al. Aging 2022 14(undefined)
Molecular genetic and clinical characterization of acute myeloid leukemia with trisomy 8 as the sole chromosome abnormality.
Liu Jie et al. Hematology (Amsterdam, Netherlands) 2022 27(1) 565-574
Predicting clinical scores in Huntington's disease: a lightweight speech test.
Riad Rachid et al. Journal of neurology 2022
A Polygenic Score for Type 2 Diabetes Improves Risk Stratification Beyond Current Clinical Screening Factors in an Ancestrally Diverse Sample.
Ashenhurst James R et al. Frontiers in genetics 2022 13871260
Ethical, Legal and Social Issues
Efficacy, safety and cost of gene therapy medicinal products in the U.S. and Europe.
Balkhi Bander et al. Drugs of today (Barcelona, Spain : 1998) 2022 58(5) 223-240
Challenging the Utility of Polygenic Scores for Social Science: Environmental Confounding, Downward Causation, and Unknown Biology.
Burt Callie H et al. The Behavioral and brain sciences 2022 1-36
Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.
Wildin Robert S et al. Frontiers in genetics 2022 13867334
Carrier frequency of autosomal recessive genetic conditions in diverse populations: lessons learned from the Genome Aggregation Database.
Schmitz Matthew J et al. Clinical genetics 2022
Unlocking sociocultural and community factors for the global adoption of genomic medicine.
Chediak Lynsey et al. Orphanet journal of rare diseases 2022 17(1) 191
Heart, Lung, Blood and Sleep
Applying an LDL-C threshold-based approach to identify individuals with familial hypercholesterolemia.
Jasani Reena et al. Journal of clinical lipidology 2022
Genetic modifiers of penetrance to liver endpoints in HFE hemochromatosis: associations in a large community cohort.
Pilling Luke C et al. Hepatology (Baltimore, Md.) 2022
Bronchial thermoplasty in severe asthma: a real-world study on efficacy and gene profiling.
Facciolongo Nicola et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2022 18(1) 39
Pathogenicity Assignment of Variants in Genes Associated With Cardiac Channelopathies Evolve Toward Diagnostic Uncertainty.
Rosamilia Michael B et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003491
Whole exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors.
Pankratz Nathan et al. Human molecular genetics 2022
Lipoprotein(a) and family history for cardiovascular disease in paediatric patients: A new frontier in cardiovascular risk stratification. Data from the LIPIGEN paediatric group.
Pederiva Cristina et al. Atherosclerosis 2022
The association of genetic susceptibility to smoking with cardiovascular disease mortality and the benefits of adhering to a DASH diet: The Singapore Chinese Health Study.
Geng Tingting et al. The American journal of clinical nutrition 2022
Disparities in Cancer Genetic Testing and Variants of Uncertain Significance in the Hispanic Population of South Texas.
Soewito Stephanie et al. JCO oncology practice 2022 18(5) e805-e813
Perceptions and care Recommendations from Previvors: Qualitative analysis of female BRCA1/2 mutation Carriers' experience with genetic testing and counseling.
Dibble Kate E et al. Gynecologic oncology reports 2022 41100989
Familial risk of epithelial ovarian cancer after accounting for gynaecological surgery: a population-based study.
Barnard Mollie E et al. Journal of medical genetics 2022
Cancer genetic testing in marginalized groups during an era of evolving healthcare reform.
Modell Stephen M et al. Journal of cancer policy 2022 28100275
Towards implementation of comprehensive breast cancer risk prediction tools in health care for personalised prevention.
Moorthie Sowmiya et al. Preventive medicine 2022 107075
Advancing Pharmacogenomics from Single-Gene to Preemptive Testing.
Haidar Cyrine E et al. Annual review of genomics and human genetics 2022
Evaluating study designs and treatment outcomes of antidepressant pharmacogenetic clinical trials - Challenges and future perspectives. A critical review.
Minelli Alessandra et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2022 5968-81
An Interactive Pharmacogenetics Lesson Using PharmGKB To Individualize Pharmacotherapy Recommendations.
Mosquera Andrea et al. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2022 36 Suppl 1
Effectiveness of alternative prenatal genetic counselling methods in a cohort of pregnant women from a low socio-economic population.
Battese Ellis Katie et al. The Australian & New Zealand journal of obstetrics & gynaecology 2022
Mutations in Thalassemia Carrier Couples: The Importance of Prenatal Diagnostic Tests.
Kiani Ali Asghar et al. Clinical laboratory 2022 68(5)
GENType: all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction.
De Witte L et al. Human reproduction (Oxford, England) 2022