Published on 06/10/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genetic and Clinical Predictors of Ataxia in Pediatric Primary Mitochondrial Disorders.
Martin-Saavedra Juan Se Bastian et al. Cerebellum (London, England) 2021 -
Epidemiology of mucopolysaccharidoses (MPS) in United States: challenges and opportunities.
Puckett Yana et al. Orphanet journal of rare diseases 2021 16(1) 241 -
Clinical and genetic findings in patients with congenital cataract and heart diseases.
Li Xinru et al. Orphanet journal of rare diseases 2021 16(1) 242 -
A Simple Practical Guide to Genomic Diagnostics in a Pediatric Setting.
Taylor Alan et al. Genes 2021 12(6) -
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities.
Zapolnik Pawel et al. International journal of molecular sciences 2021 22(11) -
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio Costanza et al. Diagnostics (Basel, Switzerland) 2021 11(6) -
Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy.
Zhang Chunhua et al. Biosensors 2021 11(5) -
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of care.
Dimmock David et al. American journal of human genetics 2021 -
RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy.
Sodi Andrea et al. Orphanet journal of rare diseases 2021 16(1) 257 -
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif Majida et al. Brain communications 2021 3(2) fcab063 -
Population Genomic Screening for Genetic Etiologies of Neurodevelopmental/Psychiatric Disorders Demonstrates Personal Utility and Positive Participant Responses.
Wain Karen E et al. Journal of personalized medicine 2021 11(5) -
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
Zurek Birte et al. European journal of human genetics : EJHG 2021
Cancer Genomics
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Oncotype DX Test Receipt among Latina/Hispanic Women with Early Invasive Breast Cancer in New Jersey: A Registry-Based Study.
Acuna Nicholas et al. International journal of environmental research and public health 2021 18(10) -
Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.
Tsui Dana W Y et al. Genome medicine 2021 13(1) 96 -
Prognostic value of the 6-gene OncoMasTR test in hormone receptor-positive HER2-negative early-stage breast cancer: Comparative analysis with standard clinicopathological factors.
Lynch Seodhna M et al. European journal of cancer (Oxford, England : 1990) 2021 15278-89 -
Differential Predictors and Clinical Implications Associated With Long-Term Survivors in IDH Wildtype and Mutant Glioblastoma.
Jiang Haihui et al. Frontiers in oncology 2021 11632663 -
Assessing the utility and attitudes toward molecular testing in neuro-oncology: a survey of the Society for Neuro-Oncology members.
Fortin Ensign Shannon et al. Neuro-oncology practice 2021 8(3) 310-316
Hereditary Cancer
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Feasibility of Utilizing PREMM Score for Lynch Syndrome Identification in an Urban, Minority Patient Population.
Adviento Brigid et al. Journal of primary care & community health 2021 1221501327211020973 -
Utilization of breast cancer risk prediction models by cancer genetic counselors in clinical practice predominantly in the United States.
Park Min Seon et al. Journal of genetic counseling 2021 -
Risk factors for an advanced breast cancer diagnosis within 2 years of a negative mammogram.
McCarthy Anne Marie et al. Cancer 2021 -
Imprecise Medicine: BRCA2 Variants of Uncertain Significance (VUS), the Challenges and Benefits to Integrate a Functional Assay Workflow with Clinical Decision Rules.
Jimenez-Sainz Judit et al. Genes 2021 12(5) -
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants.
Wiik Mariann Unhjem et al. Scientific reports 2021 11(1) 11401 -
Prostate cancer risk variants of the HOXB genetic locus.
Dupont William D et al. Scientific reports 2021 11(1) 11385 -
A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study.
Lapointe Julie et al. Cancers 2021 13(11) -
Barriers and facilitators of germline genetic evaluation for prostate cancer.
Loeb Stacy et al. The Prostate 2021 -
Plasma Protein Biomarkers Associated with Higher Ovarian Cancer Risk in BRCA1/2 Carriers.
Ahn Hee-Sung et al. Cancers 2021 13(10) -
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina.
Solano Angela R et al. Cancers 2021 13(11) -
Development of a Secure Website to Facilitate Information Sharing in Families at High Risk of Bowel Cancer-The Familyweb Study.
Goodman Selina et al. Cancers 2021 13(10) -
Comparing models of delivery for cancer genetics services among patients receiving primary care who meet criteria for genetic evaluation in two healthcare systems: BRIDGE randomized controlled trial.
Kaphingst Kimberly A et al. BMC health services research 2021 21(1) 542 -
Inherited Predisposition to Gastric Cancer.
Rustgi Sheila D et al. Gastrointestinal endoscopy clinics of North America 2021 31(3) 467-487 -
Risk of prostate cancer in relatives of prostate cancer patients in Sweden: A nationwide cohort study.
Xu Xing et al. PLoS medicine 2021 18(6) e1003616
Chronic Disease
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Temporal trends and yield of clinical diagnostic genetic testing in adult neurology.
Guo Michael H et al. American journal of medical genetics. Part A 2021 -
Patient and Relative Experiences and Decision-making About Genetic Testing and Counseling for Familial ALS and FTD: A Systematic Scoping Review.
Crook Ashley et al. Alzheimer disease and associated disorders 2021
Ethics/Policy/Law
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Can Blockchain Solve the Dilemma in the Ethics of Genomic Biobanks?
Racine Valérie et al. Science and engineering ethics 2021 27(3) 35 -
Ethical, legal and social implications of human genome studies in radiation research: a workshop report for studies on atomic bomb survivors at the Radiation Effects Research Foundation.
Noda Asao et al. Journal of radiation research 2021
Heart, Lung, Blood and Sleep Diseases
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Efficacy of PCSK9 inhibitors in the treatment of heterozygous familial hypercholesterolemia: A clinical practice experience.
Alonso Rodrigo et al. Journal of clinical lipidology 2021 -
Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.
Adekile Adekunle et al. Journal of personalized medicine 2021 11(6) -
Beneficial Effects of Remote Medical Care for Patients with Hereditary Hemorrhagic Telangiectasia during the COVID-19 Pandemic.
Gaetani Eleonora et al. Journal of clinical medicine 2021 10(11) -
Quantification of Phenotypic Variability of Lung Disease in Children with Cystic Fibrosis.
Stahl Mirjam et al. Genes 2021 12(6) -
Familial hypercholesterolemia related admission for acute coronary syndrome in the United States: Incidence, predictors, and outcomes.
Kheiri Babikir et al. Journal of clinical lipidology 2021 -
Change in Nutrient and Dietary Intake in European Children with Cystic Fibrosis after a 6-Month Intervention with a Self-Management mHealth Tool.
Calvo-Lerma Joaquim et al. Nutrients 2021 13(6)
Newborn Screening
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Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness.
Chen Huey-Fen et al. Children (Basel, Switzerland) 2021 8(5) -
Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Basheeruddin Khaja et al. International journal of neonatal screening 2021 7(2) -
Massachusetts' Findings from Statewide Newborn Screening for Spinal Muscular Atrophy.
Hale Jaime E et al. International journal of neonatal screening 2021 7(2)
Pharmacogenomics
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Multi-Institutional Implementation of Clinical Decision Support for APOL1, NAT2, and YEATS4 Genotyping in Antihypertensive Management.
Schneider Thomas M et al. Journal of personalized medicine 2021 11(6) -
Implementing Pharmacogenomics Testing: Single Center Experience at Arkansas Children's Hospital.
Gill Pritmohinder S et al. Journal of personalized medicine 2021 11(5) -
A Pharmacogenetic Study of CYP2C19 in Acute Coronary Syndrome Patients of Colombian Origin Reveals New Polymorphisms Potentially Related to Clopidogrel Therapy.
Angulo-Aguado Mariana et al. Journal of personalized medicine 2021 11(5) -
High-throughput framework for genetic analyses of adverse drug reactions using electronic health records.
Zheng Neil S et al. PLoS genetics 2021 17(6) e1009593
Reproductive Health
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The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal NIPS.
Sagi-Dain Lena et al. American journal of obstetrics and gynecology 2021 -
Should prenatal chromosomal microarray analysis be offered for isolated fetal growth restriction? A French multicenter study.
Monier Isabelle et al. American journal of obstetrics and gynecology 2021 -
Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
Morshneva Alisa et al. Genes 2021 12(5) -
Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletions in a large clinical cohort.
Bevilacqua E et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021 -
Empowering deaf and hard hearing females toward premarital counseling and genetic screening: An educational intervention based on empowerment model.
Zaien Sahar Z et al. African journal of reproductive health 2021 25(s1) 36-49