Published on 06/24/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Expectations and experience: Parent and patient perspectives regarding treatment for Severe Combined Immunodeficiency (SCID).
Smith Heather et al. Clinical immunology (Orlando, Fla.) 2021 229108778 -
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
Staley Brooke S et al. Trials 2021 22(1) 395 -
High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families.
Hu Huifang et al. Pediatric cardiology 2021 -
Whole-genome analysis as a diagnostic tool for patients referred for diagnosis of Silver-Russell syndrome: a real-world study.
Alhendi Ahmed S N et al. Journal of medical genetics 2021 -
Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021 -
Determining Cost-Optimal Next-Generation Sequencing Panels for Rare Disease and Pharmacogenomics Testing.
Katragadda Shanmukh et al. Clinical chemistry 2021
Cancer Genomics
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The mA-related gene signature for predicting the prognosis of breast cancer.
Zhong Shanliang et al. PeerJ 2021 9e11561 -
Comparison of microsatellite instability detection by immunohistochemistry and molecular techniques in colorectal and endometrial cancer.
Dedeurwaerdere Franceska et al. Scientific reports 2021 11(1) 12880 -
Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS.
Rose Brannon A et al. Nature communications 2021 12(1) 3770
Hereditary Cancer
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Impact of changing guidelines on genetic testing and surveillance recommendations in a contemporary cohort of breast cancer survivors with family history of pancreatic cancer.
Wang Annie et al. Scientific reports 2021 11(1) 12491 -
A novel BRCA1 duplication and new insights on the spectrum and frequency of germline large genomic rearrangements in BRCA1/BRCA2.
Sahin Ibrahim et al. Molecular biology reports 2021 -
Genetic testing for inherited colorectal cancer and polyposis, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Mao Rong et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021
Ethics/Policy/Law
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My mission is possible: discussing ethical concerns about genomics and precision medicine.
Giusti Raffaele et al. Recenti progressi in medicina 2021 112(6) 416-418 -
Clinical trials of germline gene editing: The exploitation problem.
Malmqvist Erik et al. Bioethics 2021 -
Social insurance, mutualistic insurance and genetic information.
Feiring Eli et al. Journal of medical ethics 2021 -
Deliberations with American Indian and Alaska Native People about the Ethics of Genomics: An Adapted Model of Deliberation Used with Three Tribal Communities in the United States.
Blacksher Erika et al. AJOB empirical bioethics 2021 1-15
Practice
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Exome variant discrepancies due to reference genome differences.
Li He et al. American journal of human genetics 2021 -
Performance of African-ancestry-specific polygenic hazard score varies according to local ancestry in 8q24.
Karunamuni Roshan A et al. Prostate cancer and prostatic diseases 2021 -
Expanding the environmental scope: an environment-wide association study for mental well-being.
van de Weijer Margot P et al. Journal of exposure science & environmental epidemiology 2021 -
Genetic testing for suicide risk assessment: Theoretical premises, research challenges and ethical concerns.
Mishara Brian L et al. Preventive medicine 2021 106685
Heart, Lung, Blood and Sleep Diseases
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Manifestations of HbSE sickle cell disease: a systematic review.
Khamees Ibrahim et al. Journal of translational medicine 2021 19(1) 262 -
Estimating the health benefits of timely diagnosis and treatment of transthyretin amyloid cardiomyopathy.
Rozenbaum Mark H et al. Journal of comparative effectiveness research 2021 -
2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families.
Stiles Martin K et al. Journal of arrhythmia 2021 37(3) 481-534 -
Genetic information improves the prediction of major adverse cardiovascular events in the GENEMACOR population.
Mendonça Maria Isabel et al. Genetics and molecular biology 2021 44(2) e20200448 -
Generalization of a genetic risk score for time to first albuminuria in children with sickle cell anaemia: SCCRIP cohort study results.
Rashkin Sara R et al. British journal of haematology 2021 -
Advances in familial hypercholesterolaemia in children.
Reijman M Doortje et al. The Lancet. Child & adolescent health 2021
Newborn Screening
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Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening results.
Carroll June C et al. Canadian family physician Medecin de famille canadien 2021 67(6) e144-e152 -
Primary care providers' role in newborn screening result notification for cystic fibrosis.
Hayeems Robin Z et al. Canadian family physician Medecin de famille canadien 2021 67(6) 439-448 -
Neonatal cystic fibrosis screening: Analysis and differences in immunoreactive trypsin levels in newborns with a positive screen.
Arrudi-Moreno Marta et al. Anales de pediatria 2021 -
Next-Generation Sequencing in Newborn Screening: A Review of Current State.
Remec Ziga I et al. Frontiers in genetics 2021 12662254
Pharmacogenomics
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A Novel Real-Time PCR Assay for Detection of HLA-A*31:01 in Individuals Being Considered for Carbamazepine Therapy.
Krause David S et al. CNS spectrums 2021 26(2) 154-155 -
Use of a Consultation Service Following Pharmacogenomic Testing in Psychiatry.
Dowd Daniel et al. CNS spectrums 2021 26(2) 179-180 -
The impact of pharmacogenetic testing in patients exposed to polypharmacy: a scoping review.
Meaddough Erika L et al. The pharmacogenomics journal 2021 -
Pharmacogenomics education, research and clinical implementation in the state of Minnesota.
Bishop Jeffrey R et al. Pharmacogenomics 2021 -
An Integrated Approach to Deploy Panel-Based Pharmacogenetic Testing and Clinical Decision Support.
Pulk Rebecca A et al. The journal of applied laboratory medicine 2021
Reproductive Health
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Interventions aiming to improve informed decision on prenatal screening and testing: A scoping review of the literature.
Yesilçinar Ilknur et al. Journal of genetic counseling 2021 -
Predictive factors of polycystic ovary syndrome in girls with precocious pubarche.
Guarnotta Valentina et al. Endocrine connections 2021