Published on 03/24/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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The clinical utility of a risk-modifying SNP to detect carriers for spinal muscular atrophy with increased sensitivity.
Ware Gardenier et al. Molecular genetics & genomic medicine 2022 e1897 -
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
O'Toole Dana et al. Journal of clinical immunology 2022 -
A systematic review and meta-analysis of gene therapy with hematopoietic stem and progenitor cells for monogenic disorders.
Tucci Francesca et al. Nature communications 2022 13(1) 1315 -
Perspectives of United States neonatologists on genetic testing practices.
Wojcik Monica H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Debiec Radoslaw Marek et al. Heart (British Cardiac Society) 2022 -
Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non-genetic risk factors in this group.
Hewat Thomas I et al. Pediatric diabetes 2022
Cancer Genomics
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Total cost of testing for genomic alterations associated with next-generation sequencing versus polymerase chain reaction testing strategies among patients with metastatic non-small cell lung cancer.
Vanderpoel Julie et al. Journal of medical economics 2022 1-17 -
Evaluation of Targeted Next-Generation Sequencing for the Management of Patients Diagnosed with a Cancer of Unknown Primary.
Fusco Michael J et al. The oncologist 2022 27(1) e9-e17 -
Lower Exome Sequencing Coverage of Ancestrally African Patients in the Cancer Genome Atlas.
Wickland Daniel P et al. Journal of the National Cancer Institute 2022 -
Targeted Next-Generation Sequencing Reveals Exceptionally High Rates of Molecular Driver Mutations in Never-Smokers With Lung Adenocarcinoma.
Mack Philip C et al. The oncologist 2022 -
Oncotype DX Recurrence Score in premenopausal women.
Zhang Shiliang et al. Therapeutic advances in medical oncology 2022 1417588359221081077 -
Clinical and analytical validation of FoundationOne®CDx, a comprehensive genomic profiling assay for solid tumors.
Milbury Coren A et al. PloS one 2022 17(3) e0264138 -
FDA-led consortium studies advance quality control of targeted next generation sequencing assays for precision oncology.
Li Dan et al. Precision cancer medicine 2022 4 -
Development of a miRNA-based classifier for detection of colorectal cancer molecular subtypes.
Adam Ronja S et al. Molecular oncology 2022
Hereditary Cancer
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Investigating men's motivations to engage in genetic screening for BRCA1 and BRCA2 mutations.
Annoni Anna Maria et al. PloS one 2022 17(3) e0265387 -
Somatic tumor testing implications for Lynch syndrome germline genetic testing.
Barrus Kathleen et al. Cancer genetics 2022 264-26516-22 -
Familial Risk of Renal Cell Cancer and Interaction with Obesity and Hyperglycemia-A Population-Based Study.
Lee Sung Won et al. The Journal of urology 2022 101097JU0000000000002506
Chronic Disease
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Genetic therapies for neurological disease: state of the art and opportunities for next-generation approaches.
Morris Gareth et al. Neuroscience 2022 -
ALS in Finland: Major Genetic Variants and Clinical Characteristics of Patients With and Without the C9orf72 Hexanucleotide Repeat Expansion.
Laaksovirta Hannu et al. Neurology. Genetics 2022 8(2) e665 -
Novel Intronic Mutations of TBK1 Promote Aberrant Splicing Modes in Amyotrophic Lateral Sclerosis.
Lu Ying-Qian et al. Frontiers in molecular neuroscience 2022 15691534
Practice
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Molecular Pathology Education: A Suggested Framework for Primary Care Resident Training in Genomic Medicine: A Report of the Association for Molecular Pathology Training and Education Committee.
Arcila Maria E et al. The Journal of molecular diagnostics : JMD 2022 -
A systematic review of theory-informed strategies used in interventions fostering family genetic risk communication.
Zhao Jingsong et al. Patient education and counseling 2022 -
Implementation Strategies to Address Suboptimal Genetic Referral Practices.
et al. American journal of medical genetics. Part A 2022 188(4) 1025-1026 -
Referral indications for malignant hyperthermia susceptibility diagnostics in patients without adverse anesthetic events in the era of next-generation sequencing.
van den Bersselaar Luuk R et al. Anesthesiology 2022 -
The Genetics of Major Depression: Perspectives on the State of Research and Opportunities for Precision Medicine.
Peterson Roseann E et al. Psychiatric annals 2022 51(4) 165-169
Heart, Lung, Blood and Sleep Diseases
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Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia.
Heitzer Andrew M et al. Current research in translational medicine 2022 70(3) 103335 -
Long-term Survival after Hematopoietic Cell Transplant for Sickle Cell Disease Compared to the United States Population.
StMartin Andrew et al. Transplantation and cellular therapy 2022 -
Development of a polygenic risk score to improve detection of peripheral artery disease.
Wang Fudi et al. Vascular medicine (London, England) 2022 1358863X211067564 -
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.
Fahed Akl C et al. JAMA network open 2022 5(3) e222687 -
Family Screening After Sudden Death in a Population-Based Study of Children.
Kannankeril Prince J et al. Pediatrics 2022 -
Establishing a Sickle Cell Disease Registry in Africa: Experience From the Sickle Pan-African Research Consortium, Kumasi-Ghana.
Paintsil Vivian et al. Frontiers in genetics 2022 13802355
Newborn Screening
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Simultaneous newborn screening for sickle cell disease, biotinidase deficiency, and hereditary tyrosinemia type 1 with an optimized tandem mass spectrometry protocol.
Lobitz Stephan et al. Annals of hematology 2022 -
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screening.
Mütze Ulrike et al. European journal of pediatrics 2022
Pharmacogenomics
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Modern developments in germline pharmacogenomics for oncology prescribing.
Reizine Natalie M et al. CA: a cancer journal for clinicians 2022 -
Clinical utility of combinatorial pharmacogenomic testing in depression: A Canadian patient- and rater-blinded, randomized, controlled trial.
Tiwari Arun K et al. Translational psychiatry 2022 12(1) 101 -
An update on pharmacogenetic factors influencing the metabolism and toxicity of artemisinin-based combination therapy in the treatment of malaria.
Pernaute-Lau Leyre et al. Expert opinion on drug metabolism & toxicology 2022
Reproductive Health
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Reflex single-gene non-invasive prenatal testing is associated with markedly better detection of fetuses affected with single-gene recessive disorders at lower cost.
Riku Shan et al. Journal of medical economics 2022 1-29