Published on 10/28/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Hospitalization Burden and Incidence of Krabbe Disease.
Ghabash Gabrielle et al. Journal of child neurology 2021 8830738211027717 -
Aging with Down Syndrome-Where Are We Now and Where Are We Going?
Alldred Melissa J et al. Journal of clinical medicine 2021 10(20) -
Predictors of empowerment in parents of children with autism and related neurodevelopmental disorders who are undergoing genetic testing.
Peltekova Iskra et al. Molecular genetics & genomic medicine 2021 e1803 -
Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Hayward Bruce E et al. Genes 2021 12(10) -
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.
Brosens Erwin et al. Genes 2021 12(10) -
Clinical next generation sequencing in developmental and epileptic encephalopathies: Diagnostic relevance of data re-analysis and variants re-interpretation.
Salinas Valeria et al. European journal of medical genetics 2021 64(12) 104363 -
The Role of Muscle Biopsy in Diagnostic Process of Infant Hypotonia: From Clinical Classification to the Genetic Outcome.
Veneruso Marco et al. Frontiers in neurology 2021 12735488 -
Genome sequencing among children with medical complexity: What constitutes value from parents' perspective?
Lee Whiwon et al. Journal of genetic counseling 2021 -
The prevalence of CFTR mutations in patients with chronic rhinosinusitis: A systematic review and meta-analysis.
Yong Michael et al. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2021 -
The Value of Genomic Testing: A Contingent Valuation Across Six Child- and Adult-Onset Genetic Conditions.
Meng Yan et al. PharmacoEconomics 2021 -
Stem Cell Research Tools in Human Metabolic Disorders: An Overview.
Ricci Serena et al. Cells 2021 10(10)
Cancer Genomics
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Evaluation of KRAS Concomitant Mutations in Advanced Lung Adenocarcinoma Patients.
Aran Veronica et al. Medicina (Kaunas, Lithuania) 2021 57(10) -
Precision Oncology of High-Grade Ovarian Cancer Defined through Targeted Sequencing.
Wessman Sandra et al. Cancers 2021 13(20) -
Recent Advances in Molecular Diagnostics and Targeted Therapy of Myeloproliferative Neoplasms.
Stivala Simona et al. Cancers 2021 13(20) -
Higher RET Gene Expression Levels Do Not Represent anAlternative RET Activation Mechanism in Medullary Thyroid Carcinoma.
Mulè Chiara et al. Biomolecules 2021 11(10) -
PPARγ Targets-Derived Diagnostic and Prognostic Index for Papillary Thyroid Cancer.
Kim Jaehyung et al. Cancers 2021 13(20) -
Clinical Outcomes of Genotype-Matched Therapy for Recurrent Gynecological Cancers: A Single Institutional Experience.
Sawada Kiyoka et al. Healthcare (Basel, Switzerland) 2021 9(10) -
Pioneering BRCA1/2 Point-Of-Care Testing for Integration of Germline and Tumor Genetics in Breast Cancer Risk Management: A Vision for the Future of Translational Pharmacogenomics.
Mampunye Lwando et al. Frontiers in oncology 2021 11619817 -
Comprehensive Genomic Profiling of Circulating Cell-Free DNA Distinguishes Focal MET Amplification from Aneuploidy in Diverse Advanced Cancers.
Kumaki Yuichi et al. Current oncology (Toronto, Ont.) 2021 28(5) 3717-3728 -
Cancer Therapy Guided by Mutation Tests: Current Status and Perspectives.
Aleksakhina Svetlana N et al. International journal of molecular sciences 2021 22(20) -
A DNA Damage Response Gene Panel for Different Histologic Types of Epithelial Ovarian Carcinomas and Their Outcomes.
Chiang Ying-Cheng et al. Biomedicines 2021 9(10) -
Nationwide evaluation of mutation-tailored anti-EGFR therapy selection in patients with colorectal cancer in daily clinical practice.
Steeghs Elisabeth M P et al. Journal of clinical pathology 2021 -
The impact of Oncotype DX testing on adjuvant chemotherapy decision making in 1-3 node positive breast cancer.
Malam Yogeshkumar et al. Cancer reports (Hoboken, N.J.) 2021 e1546 -
Differences in prostate cancer genomes by self-reported race: Contributions of genetic ancestry, modifiable cancer risk factors, and clinical factors.
Stopsack Konrad H et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 -
Bioinformatic identification of genomic instability-associated lncRNAs signatures for improving the clinical outcome of cervical cancer by a prognostic model.
Zhang Jian et al. Scientific reports 2021 11(1) 20929 -
The clinical utility of next-generation sequencing for bone and soft tissue sarcoma.
Gusho Charles A et al. Acta oncologica (Stockholm, Sweden) 2021 1-7 -
Epigenetic DNA Modifications Upregulate SPRY2 in Human Colorectal Cancers.
Stuckel Alexei J et al. Cells 2021 10(10)
Hereditary Cancer
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Prospective Evaluation over 15 Years of Six Breast Cancer Risk Models.
Li Sherly X et al. Cancers 2021 13(20) -
Genome-wide association study of colorectal polyps identified highly overlapping polygenic architecture with colorectal cancer.
Hikino Keiko et al. Journal of human genetics 2021 -
Germline Testing in Prostate Cancer: When and Who to Test.
Sokolova Alexandra et al. Oncology (Williston Park, N.Y.) 2021 35(10) 645-653 -
Experience and Perceptions of a Family Health History Risk Assessment Tool among Multi-Ethnic Asian Breast Cancer Patients.
Yoon Sungwon et al. Journal of personalized medicine 2021 11(10) -
Exploring Implementation of Personal Breast Cancer Risk Assessments.
Sierra Maria A et al. Journal of personalized medicine 2021 11(10) -
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
Bancroft Elizabeth K et al. The Lancet. Oncology 2021 -
Identification of women at risk of hereditary breast-ovarian cancer among participants in a population-based breast cancer screening.
Bonelli Luigina et al. Familial cancer 2021 -
Lynch syndrome screening of women with endometrial cancer: feasibility and outcomes in a community program.
Turashvili Gulisa et al. Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGC 2021 -
Hereditary Diffuse Gastric Cancer (HDGC). An overview.
Taja-Chayeb L et al. Clinics and research in hepatology and gastroenterology 2021 101820 -
"Left in limbo": Exploring how patients with colorectal cancer interpret and respond to a suspected Lynch syndrome diagnosis.
den Elzen Nicole et al. Hereditary cancer in clinical practice 2021 19(1) 43 -
Morphological and genomic characteristics of breast cancers occurring in individuals with Lynch Syndrome.
Schwartz Christopher J et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 -
Association of germline rare pathogenic mutations in guideline-recommended genes with prostate cancer progression: A meta-analysis.
Shi Zhuqing et al. The Prostate 2021 -
Multiple Mutation Detection for Risk Assessment in Patients with Breast Cancer by Using Next-Generation Sequencing.
Liu Peng-Fei et al. Annals of clinical and laboratory science 2021 51(5) 670-677 -
Current Testing Guidelines: A Retrospective Analysis of a Community-Based Hereditary Cancer Program.
Ward Margaret et al. Journal of the advanced practitioner in oncology 2021 12(7) 693-701
Chronic Disease
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A Clinical-Genetic Score for Predicting Weight Loss after Bariatric Surgery: The OBEGEN Study.
Ciudin Andreea et al. Journal of personalized medicine 2021 11(10) -
Can Studying Genetically Predisposed Individuals Inform Prevention Strategies for RA?
Fowler-Woods Amanda et al. Healthcare (Basel, Switzerland) 2021 9(10) -
Chromosomal Microarray Analysis as First-Tier Genetic Test for Schizophrenia.
Chen Chia-Hsiang et al. Frontiers in genetics 2021 12620496 -
Impact of ABCG2 Gene Polymorphism on the Predisposition to Psoriasis.
Huang Yu-Huei et al. Genes 2021 12(10) -
A genetic risk score and diabetes predict development of alcohol-related cirrhosis in drinkers.
Whitfield John B et al. Journal of hepatology 2021
Ethics/Policy/Law
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Ethical, Legal, and Social Implications of Fetal Gene Therapy.
Brown Julia E H et al. Clinical obstetrics and gynecology 2021 64(4) 933-940 -
Ethical considerations of preconception and prenatal gene modification in the embryo and fetus.
Mattar Citra Nurfarah Zaini et al. Human reproduction (Oxford, England) 2021
Practice
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Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets.
Márquez-Luna Carla et al. Nature communications 2021 12(1) 6052 -
The European Society of Gene and Cell Therapy: A Nearly 30-Year Endeavor to Make Gene Therapy a Clinical Reality.
Büning Hildegard et al. Human gene therapy 2021 32(19-20) 979-982 -
Reimbursement for genetic variant reinterpretation: five questions payers should ask.
Veenstra David L et al. The American journal of managed care 2021 27(10) e336-e338 -
Association and Genetic Expression between Genes Involved in HPA Axis and Suicide Behavior: A Systematic Review.
Hernández-Díaz Yazmín et al. Genes 2021 12(10) -
Suicide Related Phenotypes in a Bipolar Sample: Genetic Underpinnings.
Lybech Line K M et al. Genes 2021 12(10) -
Electronic Health Records and Genomics: Perspectives from the Association for Molecular Pathology Electronic Health Record (EHR) Interoperability for Clinical Genomics Data Working Group.
Carter Alexis B et al. The Journal of molecular diagnostics : JMD 2021 -
Do research participants share genomic screening results with family members?
Wynn Julia et al. Journal of genetic counseling 2021 -
Genomic health data generation in the UK: a 360 view.
Ormondroyd Elizabeth et al. European journal of human genetics : EJHG 2021 -
Conceptualization of utility in translational clinical genomics research.
Smith Hadley Stevens et al. American journal of human genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology.
Skrahina Volha et al. Annals of medicine 2021 53(1) 1787-1796 -
Effectiveness and safety of elexacaftor/tezacaftor/ivacaftor in patients with cystic fibrosis and advanced lung disease with the Phe508del/minimal function genotype.
Carnovale Vincenzo et al. Respiratory medicine 2021 189106646 -
Prevalence and potential genetic determinants of young sudden unexplained death victims with suspected arrhythmogenic mitral valve prolapse syndrome.
Giudicessi John R et al. Heart rhythm O2 2021 2(5) 431-438 -
Prevalence of Alpha-1 Antitrypsin Deficiency, Self-reported Behavior Change, and Healthcare Engagement Among Direct-to-Consumer Recipients of a Personalized Genetic Risk Report.
Ashenhurst James R et al. Chest 2021 -
Strength of the genetic counselor: patient relationship is associated with extent of increased empowerment in patients with arrhythmogenic cardiomyopathy.
Murray Brittney et al. Journal of genetic counseling 2021 -
Therapeutic Approaches for Patients with Cystic Fibrosis Not Eligible for Current CFTR Modulators.
Fajac Isabelle et al. Cells 2021 10(10)
Newborn Screening
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Impact of Newborn Screening on Clinical Presentation of Congenital Adrenal Hyperplasia.
Navardauskaite Ruta et al. Medicina (Kaunas, Lithuania) 2021 57(10) -
Estimated Cost-effectiveness of Genetic Testing in Siblings of Newborns With Cancer Susceptibility Gene Variants.
O'Brien Grace et al. JAMA network open 2021 4(10) e2129742
Pharmacogenomics
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Exploring the Role of Alcohol Metabolizing Genotypes in a 12-Week Clinical Trial of Naltrexone for Alcohol Use Disorder.
Castaldelli-Maia João M et al. Biomolecules 2021 11(10) -
Revisiting Secondary Information Related to Pharmacogenetic Testing.
Haga Susanne B et al. Frontiers in genetics 2021 12741395 -
Understanding the Psychological, Physiological, and Genetic Factors Affecting Precision Pain Medicine: A Narrative Review.
Chadwick Andrea et al. Journal of pain research 2021 143145-3161 -
Genetic variants predictive of chemotherapy-induced peripheral neuropathy symptoms in gynecologic cancer survivors.
Thomaier Lauren et al. Gynecologic oncology 2021 -
Development of the pharmacogenomics and genomics literacy framework for pharmacists.
Rahma Azhar T et al. Human genomics 2021 15(1) 62 -
Cost-utility analysis of single nucleotide polymorphism panel-based machine learning algorithm to predict risk of opioid use disorder.
Mallow Peter J et al. Journal of comparative effectiveness research 2021 -
Nine-gene pharmacogenomics profile service: The Mayo Clinic experience.
Matey Eric T et al. The pharmacogenomics journal 2021