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Pitfalls in clinical genetics [PDF]
Singapore Medical Journal, 2023 With the increasing availability of genetic tests, more doctors are offering and ordering such tests for their patients. Ordering a genetic test appears to be a simple process of filling in paperwork, drawing 3 mL of blood in an ...
Hui-Lin Chin, Denise Li Meng Goh
doaj +4 more sources
Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes. [PDF]
Pediatr Res, 2023 Background Identifying a precise genetic diagnosis can improve outcomes for individuals with rare disease, though the resources required to do so may impede access and exacerbate healthcare disparities leading to inequitable care.
Wojcik MH +5 more
europepmc +2 more sources
The 2019 US medical genetics workforce: a focus on clinical genetics. [PDF]
Genet Med, 2021 This study characterizes the US clinical genetics workforce to inform workforce planning and public policy development. A 32-question survey was electronically distributed to American Board of Medical Genetics and Genomics board-certified/eligible ...
Jenkins BD +12 more
europepmc +2 more sources
Clinical genetics in transition-a comparison of genetic services in Estonia, Finland, and the Netherlands. [PDF]
J Community Genet, 2021 Genetics has traditionally enabled the reliable diagnosis of patients with rare genetic disorders, thus empowering the key role of today’s clinical geneticists in providing healthcare.
Vrijenhoek T +4 more
europepmc +2 more sources
Clinical genetics of craniosynostosis [PDF]
Current Opinion in Pediatrics, 2017 Purpose of review When providing accurate clinical diagnosis and genetic counseling in craniosynostosis, the challenge is heightened by knowledge that etiology in any individual case may be entirely genetic, entirely environmental, or anything in between.
A. Wilkie, David Johnson, S. Wall
semanticscholar +4 more sources
Artificial intelligence in clinical genetics. [PDF]
Eur J Hum GenetArtificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research.
Duong D, Solomon BD.
europepmc +2 more sources
Emerging Role of Clinical Genetics in CKD [PDF]
Kidney Medicine, 2022 Chronic kidney disease (CKD) afflicts 15% of adults in the United States, of whom 25% have a family history. Genetic testing is supportive in identifying and possibly confirming diagnoses of CKD, thereby guiding care.
Prasad Devarajan +7 more
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Mosaicism in clinical genetics. [PDF]
Cold Spring Harb Mol Case Stud, 2021 Genetic mosaicism is the state in which there are two or more different sets of cells in a single individual because of one or more postzygotic mutations, and its importance in clinical genetics has long been recognized (Hall, Am J Hum Genet43: 355 [1988]). In this Perspective, a paper in this special issue on mosaicism from Cook et al.
Mefford HC.
europepmc +4 more sources
Clinical genetics of melanoma [PDF]
Hereditary Cancer in Clinical Practice, 2012 Malignant melanoma (MM) represents one of the most aggressive neoplasms and its frequency is increasing rapidly. Increased melanoma risk among relatives of MM patients and familial aggregations of this malignancy point at genetic predisposition as an important factor of MM pathogenesis. The genetic basis of MM is complex and appears to involve multiple
Dębniak T
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The Application of Clinical Genetics
The Application of Clinical Genetics, 2012 Martin H MaurerDepartment of Physiology and Pathophysiology, University of Heidelberg, Heidelberg, Germany; Mariaberg Hospital for Child and Adolescent Psychiatry, Gammertingen, GermanyIn 2012, The Application of Clinical Genetics enters its fifth year ...
Maurer MH
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