Published on 11/10/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Combining genetic risk score with artificial neural network to predict the efficacy of folic acid therapy to hyperhomocysteinemia.
Chen Xiaorui et al. Scientific reports 2021 11(1) 21430 -
Healthcare Transition from Pediatric- to Adult-Focused Care in X-Linked Hypophosphatemia: Review and Expert Consensus.
Dahir Kathryn et al. The Journal of clinical endocrinology and metabolism 2021 -
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Cloney Thomas et al. Journal of medical genetics 2021 -
Comprehensive Analysis of Genes Associated With Sudden Infant Death Syndrome.
Mehboob Riffat et al. Frontiers in pediatrics 2021 9742225 -
Genetic neuromuscular disorders: what is the best that we can do?
Laing Nigel G et al. Neuromuscular disorders : NMD 2021 31(10) 1081-1089 -
Epilepsy and related challenges in children with COL4A1 and COL4A2 mutations: A Gould syndrome patient registry.
Boyce Danielle et al. Epilepsy & behavior : E&B 2021 125108365 -
Genetics of congenital heart disease: a narrative review of recent advances and clinical implications.
Yasuhara Jun et al. Translational pediatrics 2021 10(9) 2366-2386 -
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon Katherine R et al. BMJ (Clinical research ed.) 2021 375e066288
Cancer Genomics
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Management of Immune-Related Adverse Events in Patients Treated With Immune Checkpoint Inhibitor Therapy: ASCO Guideline Update.
Schneider Bryan J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2101440 -
Management of Immune-Related Adverse Events in Patients Treated With Chimeric Antigen Receptor T-Cell Therapy: ASCO Guideline.
Santomasso Bianca D et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 JCO2101992 -
Molecular profile to guide personalized medicine in adult patients with primary brain tumors: results from the ProfiLER trial.
Bonneville-Levard Alice et al. Medical oncology (Northwood, London, England) 2021 39(1) 4 -
Multi-Omics analysis identifies a lncRNA-related prognostic signature to predict bladder cancer recurrence.
Xu Zhipeng et al. Bioengineered 2021 -
Identification and validation of a novel zinc finger protein-related gene-based prognostic model for breast cancer.
Ye Min et al. PeerJ 2021 9e12276 -
Circulating Tumour DNA and Colorectal Cancer: the Next Revolutionary Biomarker?
Naidoo Mahendra et al. Current oncology reports 2021 23(12) 140 -
Predictive Value of a Genomic Classifier in Indeterminate Thyroid Nodules Based on Nodule Size.
Dublin Jared C et al. JAMA otolaryngology-- head & neck surgery 2021 -
Advancement of prognostic models in breast cancer: a narrative review.
Min Ningning et al. Gland surgery 2021 10(9) 2815-2831 -
Factors Affecting Time to Surgery in Breast Cancer Patients.
Chagpar Anees B et al. The American surgeon 2021 31348211054714
Hereditary Cancer
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Patient and Clinician Characteristics That Predict Breast Cancer Screening Behavior in 40-49-Year-Old Women.
Schrager Sarina et al. Journal of patient-centered research and reviews 2021 8(4) 331-335 -
Incidental Finding of Attenuated Familial Adenomatous Polyposis.
Bhesania Siddharth et al. Cureus 2021 13(9) e18237 -
Detection of BRCA1/2 Mutation and Analysis of Clinicopathological Characteristics in 141 Cases of Ovarian Cancer.
Li Ling et al. Computational and mathematical methods in medicine 2021 20214854282 -
The challenging screen detection of ovarian cancer in BRCA mutation carriers adhering to a 6-month follow-up program: results from a 6-years surveillance.
Grandi Giovanni et al. Menopause (New York, N.Y.) 2021 -
Hereditary Cancer Risk Using a Genetic Chatbot Before Routine Care Visits.
Nazareth Shivani et al. Obstetrics and gynecology 2021 -
Creating Breast and Gynecologic Cancer Guidelines for Transgender Patients With BRCA Mutations.
Bedrick Bronwyn S et al. Obstetrics and gynecology 2021
Chronic Disease
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Serum integrative omics reveals the landscape of human diabetic kidney disease.
Liu Shijia et al. Molecular metabolism 2021 101367 -
Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders.
Eijsbouts Chris et al. Nature genetics 2021 53(11) 1543-1552 -
Mainstreaming Genetic Testing for Adult Patients With Autosomal Dominant Polycystic Kidney Disease.
Elliott Mark D et al. Canadian journal of kidney health and disease 2021 820543581211055001
Ethics/Policy/Law
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A New Governance Approach to Regulating Human Genome Editing.
Conley John M et al. North Carolina journal of law & technology 2021 22(2) 107-141 -
Implementation of Privacy and Security for a Genomic Information System.
Delgado Jaime et al. Studies in health technology and informatics 2021 285253-258 -
Consent for Use of Genetic Data among US Hispanics/Latinos: Results from the Hispanic Community Health Study/ Study of Latinos.
Gonzalez Sara et al. Ethnicity & disease 2021 31(4) 547-558 -
Ask the people: developing guidelines for genomic research with Aboriginal and Torres Strait Islander peoples.
Kaladharan Sid et al. BMJ global health 2021 6(11) -
A Blockchain-Based Dynamic Consent Architecture to Support Clinical Genomic Data Sharing (ConsentChain): Proof-of-Concept Study.
Albalwy Faisal et al. JMIR medical informatics 2021 9(11) e27816
Practice
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Design considerations for workflow management systems use in production genomics research and the clinic.
Ahmed Azza E et al. Scientific reports 2021 11(1) 21680 -
Effects of polygenic risk for suicide attempt and risky behavior on brain structure in young people with familial risk of bipolar disorder.
Overs Bronwyn J et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2021 -
Multigenerational health research using population-based linked databases: an international review.
Hamm Naomi C et al. International journal of population data science 2021 6(1) 1686 -
Epigenetics and the International Classification of Functioning, Disability and Health Model: Bridging Nature, Nurture, and Patient-Centered Population Health.
Shields Richard K et al. Physical therapy 2021
Heart, Lung, Blood and Sleep Diseases
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Integrating Patient-Reported Outcomes Into Clinical Genetic Testing for Familial Hypercholesterolemia.
Hendricks-Sturrup Rachele M et al. Journal of patient-centered research and reviews 2021 8(4) 336-339 -
Human Angiopoietin-like Protein 3/ANGPTL3 Antibodies: Adding to the Armamentarium in the Management of Dyslipidemia.
Wiggins Barbara S et al. Journal of cardiovascular pharmacology 2021 78(5) e631-e640 -
Treatment decision-making in sickle cell disease patients.
Booth A et al. Journal of community genetics 2021 -
Rate of Heart Failure Following Atrial Fibrillation According to Presence of Family History of Dilated Cardiomyopathy or Heart Failure: A Nationwide Study.
Ebbesen Magnus N et al. Journal of the American Heart Association 2021 e021286
Pharmacogenomics
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Novel models for the prediction of drug-gene interactions.
Türk Denise et al. Expert opinion on drug metabolism & toxicology 2021 -
Perspectives on the Clinical Use of Pharmacogenetic Testing in Late-Life Mental Healthcare: A Survey of the American Association of Geriatric Psychiatry Membership.
Bousman Chad A et al. The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry 2021 -
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Molin Arnaud et al. Frontiers in endocrinology 2021 12736240 -
Underrepresented patient views and perceptions of personalized medication treatment through pharmacogenomics.
Saulsberry Loren et al. NPJ genomic medicine 2021 6(1) 90
Reproductive Health
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Exploring the use of a Comic for Education about Expanded Carrier Screening among a Diverse Group of Mothers.
Rothwell Erin et al. Journal of communication in healthcare 2021 14(3) 252-258 -
Chromosomal variants accumulate in genomes of the spontaneous aborted fetuses revealed by chromosomal microarray analysis.
Li Sen et al. PloS one 2021 16(11) e0259518 -
[Analysis of the results of chromosomal trisomies 21, 18 and 13 screening among 40 628 women by non-invasive prenatal testing].
Wang Dongmei et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 38(11) 1045-1050