Published on 07/08/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Personal utility of genomic sequencing for infants with congenital deafness.
Tutty Erin et al. American journal of medical genetics. Part A 2021 -
Predictors of cognitive, behavioural and academic difficulties in NF1.
Geoffray Marie-Maude et al. Journal of psychiatric research 2021 140545-550 -
Genetic Testing and Counseling and Child Neurology.
Sadat Roa et al. Neurologic clinics 2021 39(3) 705-717 -
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Manickam Kandamurugu et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Health services use by children identified as heterozygous hemoglobinopathy mutation carriers via newborn screening.
Khangura Sara D et al. BMC pediatrics 2021 21(1) 296 -
Molecular Genetics and Complex Inheritance of Congenital Heart Disease.
Diab Nicholas S et al. Genes 2021 12(7) -
Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy.
Kichula Elizabeth A et al. Muscle & nerve 2021 -
Estimating the Prevalence and Genetic Risk Mechanisms of ARFID in a Large Autism Cohort.
Koomar Tanner et al. Frontiers in psychiatry 2021 12668297
Cancer Genomics
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Predictive Evaluation on Cytological Sample of Metastatic Melanoma: The Role of BRAF Immunocytochemistry in the Molecular Era.
Ronchi Andrea et al. Diagnostics (Basel, Switzerland) 2021 11(6) -
Poorly Differentiated and Anaplastic Thyroid Cancer: Insights into Genomics, Microenvironment and New Drugs.
Prete Alessandro et al. Cancers 2021 13(13) -
Accurate Prognosis Prediction of Pancreatic Ductal Adenocarcinoma Using Integrated Clinico-Genomic Data of Endoscopic Ultrasound-Guided Fine Needle Biopsy.
Park Joo Kyung et al. Cancers 2021 13(11) -
Clinical Impact of a Novel Model Predictive of Oncotype DX Recurrence Score in Breast Cancer.
Yamamoto Shinya et al. In vivo (Athens, Greece) 2021 35(4) 2439-2444 -
Knowledge and Practice Patterns Among Pulmonologists for Molecular Biomarker Testing in Advanced Non-Small Cell Lung Cancer.
Fox Adam H et al. Chest 2021 -
Substantial Reduction in Adjuvant Chemotherapy With the Use of the 21-Gene Test to Manage Early Breast Cancer in a Public Hospital in Brazil.
Mattar André et al. JCO global oncology 2021 71003-1011 -
Functional multigenic variations associated with hodgkin lymphoma.
Osman Yasser et al. International journal of laboratory hematology 2021 -
Association of Copy Number Variation Signature and Survival in Patients With Serous Ovarian Cancer.
Graf Ryon P et al. JAMA network open 2021 4(6) e2114162 -
Cancer genetic testing in marginalized groups during an era of evolving healthcare reform.
Modell Stephen M et al. Journal of cancer policy 2021 28
Hereditary Cancer
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Psychological consequences of MRI-based screening among women with strong family histories of breast cancer.
Castelo Matthew et al. Breast cancer research and treatment 2021 -
Pediatric Oncologists' Experiences Returning and Incorporating Genomic Sequencing Results into Cancer Care.
Hsu Rebecca L et al. Journal of personalized medicine 2021 11(6) -
Updates in chemoprevention research for hereditary gastrointestinal and polyposis syndromes.
Hall Michael J et al. Current treatment options in gastroenterology 2021 19(1) 30-46 -
Clinical Multigene Testing for Prostate Cancer.
Berro Tala et al. The Urologic clinics of North America 2021 48(3) 297-309 -
Deciding the operation type according to mismatch repair status among hereditary nonpolyposis colorectal cancer patients: should a tailored approach be applied, or does one size fit all?
Liao Chun-Kai et al. Hereditary cancer in clinical practice 2021 19(1) 29 -
Feasibility and Assessment of a Cascade Traceback Screening Program (FACTS): Protocol for a Multisite Study to Implement and Assess an Ovarian Cancer Traceback Cascade Testing Program.
DiNucci Anna et al. Journal of personalized medicine 2021 11(6) -
Screening High-Risk Women Veterans for Breast Cancer.
Park Yeun-Hee Anna et al. Federal practitioner : for the health care professionals of the VA, DoD, and PHS 2021 38(Suppl 2) S35-S41
Chronic Disease
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Body Mass Index and Birth Weight Improve Polygenic Risk Score for Type 2 Diabetes.
Moldovan Avigail et al. Journal of personalized medicine 2021 11(6) -
Genomics of Gulf War Illness in U.S. Veterans Who Served during the 1990-1991 Persian Gulf War: Methods and Rationale for Veterans Affairs Cooperative Study #2006.
Radhakrishnan Krishnan et al. Brain sciences 2021 11(7) -
Repeats expansions in ATXN2, NOP56, NIPA1 and ATXN1 are not associated with ALS in Africans.
Nel Melissa et al. IBRO neuroscience reports 2021 10130-135 -
The Genetics of Parkinson's Disease and Implications for Clinical Practice.
Day Jacob Oliver et al. Genes 2021 12(7)
Ethics/Policy/Law
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Towards a Responsible Transition to Learning Healthcare Systems in Precision Medicine: Ethical Points to Consider.
Wouters Roel H P et al. Journal of personalized medicine 2021 11(6) -
Ethics and regulatory considerations for the clinical translation of somatic cell human epigenetic editing.
Zeps Nikolajs et al. Stem cell reports 2021 -
Ethical implications of next-generation sequencing and the future of newborn screening.
White-Corey Shelley et al. Journal of the American Association of Nurse Practitioners 2021 33(7) 492-495
Practice
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Understanding genomic health information: how to meet the needs of the culturally and linguistically diverse community-a mixed methods study.
Uebergang Eloise et al. Journal of community genetics 2021 -
Patient and Family Preferences on Health System-Led Direct Contact for Cascade Screening.
Henrikson Nora B et al. Journal of personalized medicine 2021 11(6) -
Interactions of Carbohydrate Intake and Physical Activity with Regulatory Genes Affecting Glycaemia: A Food4Me Study Analysis.
Navas-Carretero Santiago et al. Lifestyle genomics 2021 1-10 -
Technological readiness and implementation of genomic-driven precision medicine for complex diseases.
Franks P W et al. Journal of internal medicine 2021 -
Framing Effects on Decision-Making for Diagnostic Genetic Testing: Results from a Randomized Trial.
Dwyer Andrew A et al. Genes 2021 12(6) -
Assessing the utility of deep neural networks in predicting postoperative surgical complications: a retrospective study.
Bonde Alexander et al. The Lancet. Digital health 2021 -
How practice setting affects family physicians' views on genetic screening: a qualitative study.
Fok Rose Wai-Yee et al. BMC family practice 2021 22(1) 141
Heart, Lung, Blood and Sleep Diseases
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Familial Pulmonary Fibrosis: Genetic Features and Clinical Implications.
Zhang David et al. Chest 2021 -
Clinical impact of re-evaluating genes and variants implicated in dilated cardiomyopathy.
Stroeks Sophie L V M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene.
Tada Hayato et al. Journal of atherosclerosis and thrombosis 2021 -
Acceptability, Appropriateness, and Feasibility of Automated Screening Approaches and Family Communication Methods for Identification of Familial Hypercholesterolemia: Stakeholder Engagement Results from the IMPACT-FH Study.
Jones Laney K et al. Journal of personalized medicine 2021 11(6) -
Polygenic Risk Scores to Identify CVD Risk and Tailor Therapy: Hope or Hype?
German Charles A et al. Current atherosclerosis reports 2021 23(9) 47 -
Metaproteomics to Decipher CF Host-Microbiota Interactions: Overview, Challenges and Future Perspectives.
Hardouin Pauline et al. Genes 2021 12(6) -
The rs508487, rs236911, and rs236918 Genetic Variants of the Proprotein Convertase Subtilisin-Kexin Type 7 (PCSK7) Gene Are Associated with Acute Coronary Syndrome and with Plasma Concentrations of HDL-Cholesterol and Triglycerides.
Vargas-Alarcón Gilberto et al. Cells 2021 10(6)
Newborn Screening
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Outcomes of Universal Newborn Screening Programs: Systematic Review.
Yoshinaga-Itano Christine et al. Journal of clinical medicine 2021 10(13) -
The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts.
Brower Amy et al. International journal of neonatal screening 2021 7(3)
Pharmacogenomics
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Genome-wide Association Studies in Pharmacogenomics.
McInnes Gregory et al. Clinical pharmacology and therapeutics 2021 -
An evidence-based framework for evaluating pharmacogenomics knowledge for personalized medicine.
Whirl-Carrillo Michelle et al. Clinical pharmacology and therapeutics 2021 -
Economic evaluation in psychiatric pharmacogenomics: a systematic review.
Karamperis Kariofyllis et al. The pharmacogenomics journal 2021 -
Genetics of substance use disorders in the era of big data.
Gelernter Joel et al. Nature reviews. Genetics 2021 -
Influence of CYP2C9 Genetic Polymorphisms on the Pharmacokinetics of Losartan and Its Active Metabolite E-3174: A Systematic Review and Meta-Analysis.
Park Yoon-A et al. Journal of personalized medicine 2021 11(7) -
Genetic Testing for Antipsychotic Pharmacotherapy: Bench to Bedside.
Shad Mujeeb U et al. Behavioral sciences (Basel, Switzerland) 2021 11(7) -
The Genetics of Adverse Drug Outcomes in Type 2 Diabetes: A Systematic Review.
Baye Assefa M et al. Frontiers in genetics 2021 12675053
Reproductive Health
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How genomics is changing the practice of prenatal testing.
Filges Isabel et al. Journal of perinatal medicine 2021 -
What women want: General population perspectives and access to preconception expanded carrier screening.
Rabkina Liya et al. Prenatal diagnosis 2021 -
Correlates of knowledge of genetic diseases and congenital anomalies among pregnant women attending antenatal clinics in Lagos, South-West Nigeria.
Ogamba Chibuzor Franklin et al. The Pan African medical journal 2021 38310