Published on 10/14/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Wilson Disease Prevalence: Discrepancy Between Clinical Records, Registries and Mutation Carrier Frequency.
Lorente-Arencibia Pascual et al. Journal of pediatric gastroenterology and nutrition 2021 -
Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases.
Quaio Caio Robledo D'Angioli Costa et al. Genetics and molecular biology 2021 44(4) 20210061 -
Creatine kinase test diagnostic accuracy in neonatal screening for Duchenne Muscular Dystrophy: a systematic review.
de Freitas Nakata Kelli Carneiro et al. Clinical biochemistry 2021 -
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Gardner Eugene J et al. American journal of human genetics 2021 -
Skype Supervised, Individualized, Home-Based Rehabilitation Programs for Individuals With Rett Syndrome and Their Families - Parental Satisfaction and Point of View.
Lotan Meir et al. Frontiers in psychology 2021 12720927 -
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
Gürsoy Semra et al. Molecular syndromology 2021 12(5) 269-278
Cancer Genomics
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Distinct mutational profile and immune microenvironment in microsatellite-unstable and POLE-mutated tumors.
Hwang Hee Sang et al. Journal for immunotherapy of cancer 2021 9(10) -
Identification of a glycolysis-related gene signature for survival prediction of ovarian cancer patients.
Zhang Dai et al. Cancer medicine 2021 -
Genomic landscape of treatment refractory metastatic colorectal cancer.
Eefsen R L et al. Acta oncologica (Stockholm, Sweden) 2021 1-8 -
Estrogen Receptor Is Expressed in Uveal Melanoma: A Potential Target for Therapy.
Schoenfield Lynn et al. Ocular oncology and pathology 2021 7(4) 303-310 -
Editorial: Applications of Metagenomics in Studying Human Cancer.
Huang Guohua et al. Frontiers in genetics 2021 12760141 -
Comprehensive Analysis of TP53 and KEAP1 Mutations and their Impact on Survival in Localized and Advanced Stage Non-Small Cell Lung Cancer.
Saleh Mohamed Mahde et al. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2021
Hereditary Cancer
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Lynch syndrome in urological practice: diagnosis, therapeutic strategies, and screening for upper tract urothelial carcinoma.
Lonati Chiara et al. Current opinion in urology 2021 -
Overview of hereditary breast and ovarian cancer (HBOC) guidelines across Europe.
Marmolejo David Humberto et al. European journal of medical genetics 2021 104350 -
A culturally targeted video to promote genetic counseling in a community sample of at-risk US Latina women: The role of the concrete mindset.
Carrera Pilar et al. Journal of community psychology 2021 -
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.
Furniss C Sloane et al. Cancer prevention research (Philadelphia, Pa.) 2021 -
When guidelines face reality - Lynch syndrome screening in the setting of public health system in a developing country.
Kozak Vanessa Nascimento et al. Journal of community genetics 2021 -
Clinical Impact of Pathogenic Germline Variants in Pancreatic Cancer: Results From a Multicenter, Prospective, Universal Genetic Testing Study.
Uson Pedro L S et al. Clinical and translational gastroenterology 2021 12(10) e00414 -
Disparities between Uptake of Germline BRCA1/2 Gene Tests and Implementation of Post-test Management Strategies in Epithelial Ovarian, Fallopian Tube, or Primary Peritoneal Cancer Patients.
Hur Young Min et al. Journal of Korean medical science 2021 36(38) e241 -
Birt-Hogg-Dubé Syndrome and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome: An Effective Multidisciplinary Approach to Hereditary Renal Cancer Predisposing Syndromes.
Al-Shinnag Mohammad et al. Frontiers in oncology 2021 11738822
Chronic Disease
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The analysis of genotype-phenotype correlation in familial Mediterranean fever.
Öztürk Kübra et al. Pediatrics international : official journal of the Japan Pediatric Society 2021 -
A radiomics method based on MR FS-T2WI sequence for diagnosing of autosomal dominant polycystic kidney disease progression.
Cong L et al. European review for medical and pharmacological sciences 2021 25(18) 5769-5780 -
Prominent Striatum Amyloid Retention in Early-Onset Familial Alzheimer's Disease With PSEN1 Mutations: A Pilot PET/MR Study.
Qin Qi et al. Frontiers in aging neuroscience 2021 13732159 -
Disclosing Genetic Risk of Alzheimer's Disease to Cognitively Unimpaired Older Adults: Findings from the Study of Knowledge and Reactions to APOE Testing (SOKRATES II).
Largent Emily A et al. Journal of Alzheimer's disease : JAD 2021
Ethics/Policy/Law
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The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review.
Perrot Adeline et al. European journal of human genetics : EJHG 2021
Practice
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The National Academies' Roundtable on Genomics and Precision Health: Where we have been and where we are heading.
Ginsburg Geoffrey et al. American journal of human genetics 2021 108(10) 1817-1822 -
My Research Results: a program to facilitate return of clinically actionable genomic research findings.
Willis Amanda M et al. European journal of human genetics : EJHG 2021
Heart, Lung, Blood and Sleep Diseases
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mTOR-Activating Mutations in RRAGD are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann Karl-Peter et al. Journal of the American Society of Nephrology : JASN 2021 -
Hypertrophic cardiomyopathy: a practical approach to guideline directed management.
Ommen Steve R et al. Lancet (London, England) 2021 -
Emerging drugs for hemophilia A: insights into phase II and III clinical trials.
Kizilocak Hande et al. Expert opinion on emerging drugs 2021 -
Epigenetics: a new warrior against cardiovascular calcification, a forerunner in modern lifestyle diseases.
Dutta Parna et al. Environmental science and pollution research international 2021 -
Filamin C variant-associated Cardiomyopathy: A Pooled Analysis of Individual Patient Data to Evaluate the Clinical Profile and Risk of Sudden Cardiac Death.
Celeghin Rudy et al. Heart rhythm 2021
Newborn Screening
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Ontario Newborn Screening for Spinal Muscular Atrophy: The First Year.
Kernohan Kristin D et al. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2021 1-7 -
Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry.
Austin Pickens C et al. Clinical chemistry 2021 -
Health care practitioners' experience-based opinions on providing care after a positive newborn screen for Pompe disease.
Davids Laura et al. Molecular genetics and metabolism 2021
Pharmacogenomics
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Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas.
Dawed Adem Y et al. Diabetes care 2021 -
Impact of Automated Best Practice Advisories on Provider Response to CYP2C19 Genotyping Results for Patients on Clopidogrel.
Petry Natasha J et al. Journal of pharmacy practice 2021 8971900211049589 -
Pharmacogenetic testing for adverse drug reaction prevention: systematic review of economic evaluations and the appraisal of quality matters for clinical practice and implementation.
Turongkaravee Saowalak et al. BMC health services research 2021 21(1) 1042 -
Adoption of Pharmacogenomic Testing: A Marketing Perspective.
Koufaki Margarita-Ioanna et al. Frontiers in pharmacology 2021 12724311
Reproductive Health
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Preimplantation genetic testing for BRCA gene mutation carriers: a cost effectiveness analysis.
Michaan Nadav et al. Reproductive biology and endocrinology : RB&E 2021 19(1) 153 -
Analysis of Genomic Copy Number Variation in Miscarriages During Early and Middle Pregnancy.
Wu Heming et al. Frontiers in genetics 2021 12732419