Published on 02/18/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots.
Wijaya Yogik Onky Silvana et al. International journal of neonatal screening 2020 May 6(2) -
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
Sachdev Rani et al. Journal of paediatrics and child health 2021 Feb -
Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb -
Genetic screening in children with challenging nephrotic syndrome.
Saeed Bassam et al. Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia 31(6) 1189-1197 -
Clinical significance of E148Q heterozygous variant in paediatric Familial Mediterranean Fever.
Tirosh Irit et al. Rheumatology (Oxford, England) 2021 Feb -
Diagnostic Yield of Whole Genome Sequencing After Non-diagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer Elizabeth Emma et al. Neurology 2021 Feb -
Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe.
Lamy F et al. Orphanet journal of rare diseases 2021 Feb 16(1) 75
Cancer Genomics
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MLH1/PMS2-deficient Endometrial Carcinomas in a Universally Screened Population: MLH1 Hypermethylation and Germline Mutation Status.
Kurpiel Brett et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2021 Feb -
Cost-Effectiveness of Genomic Test-Directed Olaparib for Metastatic Castration-Resistant Prostate Cancer.
Su Dan et al. Frontiers in pharmacology 2020 11610601 -
Research Related Tumour Biopsies in Early-Phase Trials with Simultaneous Molecular Characterisation - a Single Unit Experience.
Biondo Andrea et al. Cancer treatment and research communications 2021 Jan 27100309 -
A serum-based DNA methylation assay provides accurate detection of glioma.
Sabedot Thais et al. Neuro-oncology 2021 Feb -
A multimodal genomics approach to diagnostic evaluation of pediatric hematologic malignancies.
Hiemenz Matthew C et al. Cancer genetics 2021 Jan 254-25525-33 -
Systematic evaluation of scoring methods for Ki67 as a surrogate for 21-gene recurrence score.
Paik Soonmyung et al. NPJ breast cancer 2021 Feb 7(1) 13 -
Integrative Genomic Analyses of Patient-Matched Intracranial and Extracranial Metastases Reveal a Novel Brain-Specific Landscape of Genetic Variants in Driver Genes of Malignant Melanoma.
Váraljai Renáta et al. Cancers 2021 Feb 13(4) -
Identification of 6 gene markers for survival prediction in osteosarcoma cases based on multi-omics analysis.
Li Runmin et al. Experimental biology and medicine (Maywood, N.J.) 2021 Feb 1535370221992015
Hereditary Cancer
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Universal germline testing among patients with colorectal cancer: clinical actionability and optimised panel.
Jiang Wu et al. Journal of medical genetics 2021 Feb -
Update: variable implementation of the 2018 UKCGG/UKGTN guidelines for breast cancer gene panel tests offered by UK genetics services.
Wedderburn Sarah et al. Journal of medical genetics 2021 Feb -
Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers.
Marcinkute Ruta et al. Journal of medical genetics 2021 Feb -
Surgical decision making in premenopausal BRCA carriers considering risk-reducing early salpingectomy or salpingo-oophorectomy: a qualitative study.
Gaba Faiza et al. Journal of medical genetics 2021 Feb -
Room for improvement: One third of Lynch syndrome patients presenting for genetic testing in a highly specialised centre in Stockholm already have cancer.
Bernstedt Sophie Walton et al. Hereditary cancer in clinical practice 2021 Feb 19(1) 18 -
Polygenic risk score is a predictor of adenomatous polyps at screening colonoscopy.
Northcutt Michael J et al. BMC gastroenterology 2021 Feb 21(1) 65 -
Utilization, Timing, and Outcomes of BRCA Genetic Testing Among Women With Newly Diagnosed Breast Cancer From a National Commercially Insured Population: The ABOARD Study.
Armstrong Joanne et al. JCO oncology practice 2021 Feb 17(2) e226-e235
Chronic Disease
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The Utility of Genetic Risk Score to Improve Performance of FRAX for Fracture Prediction in US Postmenopausal Women.
Xiao Xiangxue et al. Calcified tissue international 2021 Feb -
Biomarker Testing: Piercing the Fog of Alzheimer's and Related Dementia.
Horgan Denis et al. Biomedicine hub 5(3) 19-40
Ethics/Policy/Law
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Constructing a Bioethical Framework to Evaluate and Optimise Newborn Bloodspot Screening for Cystic Fibrosis.
Armstrong Rachael E et al. International journal of neonatal screening 2020 May 6(2) -
An Integrated Review of Hypertrophic Cardiomyopathy in Black Populations: Underrecognized and Understudied.
Arabadjian Milla et al. The Journal of cardiovascular nursing 36(2) 104-115 -
A Code of Ethics for Gene Drive Research.
Annas George J et al. The CRISPR journal 2021 Feb 1-8 -
The next 20 years of human genomics must be more equitable and more open.
et al. Nature 2021 Feb 590(7845) 183-184
Practice
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Relevance of pathogenicity prediction tools in human RYR1 variants of unknown significance.
Hoppe Kerstin et al. Scientific reports 2021 Feb 11(1) 3445 -
Leveraging population-based exome screening to impact clinical care: The evolution of variant assessment in the Geisinger MyCode research project.
Kelly Melissa A et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021 Feb -
Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.
Kochan David C et al. NPJ genomic medicine 2020 May 5(1) 19 -
Evaluating the promise of inclusion of African ancestry populations in genomics.
Bentley Amy R et al. NPJ genomic medicine 2020 Feb 5(1) 5 -
Genetics education program to help public health nurses improve their knowledge and enhance communities' genetic literacy: a pilot study.
Kawasaki Hiromi et al. BMC nursing 2021 Feb 20(1) 31
Heart, Lung, Blood and Sleep Diseases
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Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.
Ghidoni Alice et al. Circulation. Genomic and precision medicine 2021 Feb -
Long-Term Clinical Follow-up of Patients with Familial Hypomagnesemia with Secondary Hypocalcemia.
Bayramoglu Elvan et al. Journal of clinical research in pediatric endocrinology 2021 Feb -
Pediatric Neurodevelopmental Delays in Children 0 to 5 Years of Age With Sickle Cell Disease: A Systematic Literature Review.
Knight La'Kita M J et al. Journal of pediatric hematology/oncology 2021 Feb -
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Richmond Christopher M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb -
Cardiovascular Risk Misperception and Low Awareness of Familial Hypercholesterolemia in Individuals with Severe Hypercholesterolemia.
Santos Raul D et al. Arquivos brasileiros de cardiologia 2021 Feb -
ASH ISTH NHF WFH 2021 guidelines on the diagnosis of von Willebrand disease.
James Paula D et al. Blood advances 2021 Jan 5(1) 280-300 -
Clinical epigenomics for cardiovascular disease: Diagnostics and therapies.
Fischer Matthew A et al. Journal of molecular and cellular cardiology 2021 Feb
Newborn Screening
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Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug Tracy L et al. International journal of neonatal screening 2020 Feb 6(1) -
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang Hao et al. International journal of neonatal screening 2020 Feb 6(1) -
Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation.
Hale Kshea et al. International journal of neonatal screening 2020 Jun 6(2) -
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton Barbara K et al. International journal of neonatal screening 2020 Jan 6(1) -
Inconclusive Diagnosis after Newborn Screening for Cystic Fibrosis.
Munck Anne et al. International journal of neonatal screening 2020 Mar 6(1) -
Newborn Screening for CF across the Globe- Where Is It Worthwhile ?
Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1) -
The Role of Extended CFTR Gene Sequencing in Newborn Screening for Cystic Fibrosis.
Bergougnoux Anne et al. International journal of neonatal screening 2020 Mar 6(1) -
Post-Analytical Tools for the Triage of Newborn Screening Results in Follow-up Can Reduce Confirmatory Testing and Guide Performance Improvement.
Hall Patricia L et al. International journal of neonatal screening 2020 Mar 6(1)
Pharmacogenomics
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Pharmacogenetics in developing countries and low resource environments.
El Shamieh Said et al. Human genetics 2021 Feb -
Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT.
Dubé Marie-Pierre et al. Circulation. Genomic and precision medicine 2021 Feb -
Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines.
Abdullah-Koolmees Heshu et al. Frontiers in pharmacology 2020 11595219 -
Use of Clopidogrel and Proton Pump Inhibitors Alone or in Combinations in Persons with Diabetes in Denmark; Potential for CYP2C19 Genotype-Guided Drug Therapy.
Westergaard Niels et al. Metabolites 2021 Feb 11(2)
Reproductive Health
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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Van Den Bogaert Kris et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 Feb -
Hereditary thrombophilia and recurrent pregnancy loss: a systematic review and meta-analysis.
Liu Xiaoling et al. Human reproduction (Oxford, England) 2021 Feb -
Sickle cell anemia/sickle cell disease and pregnancy outcomes among ethnic tribes in India: an integrative mini-review.
Ganesh Balasubramanian et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2021 Feb 1-8