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The Application of Clinical Genetics [PDF]
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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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
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Blueprint for building a patient-centered hereditary cancer program based on stakeholder perspectives [PDF]
Gynecologic Oncology ReportsObjectives: As the need for clinical cancer genetics services continues to rise, health systems must strategize on how best to deliver this specialized care.
Tamar Nicole Soussana +6 more
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Wilms tumor (nephroblastoma) – clinical and genetic aspects
Nowotwory, 2022 Nephroblastoma (Wilms tumor – WT) is the most common kidney tumor among the pediatric population, fifth among malignant neoplasms and third among solid tumors. The most common type of WT is sporadic and unilateral.
Małgorzata Janeczko-Czarnecka +3 more
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iScience, 2021 Summary: A first-in-human clinical trial of gene therapy in Leber congenital amaurosis due to mutations in the GUCY2D gene is underway, and early results are summarized.
Samuel G. Jacobson +12 more
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iScience, 2022 Summary: We carried out a genome-wide association analysis including 51,194 cases of hypothyroidism and 443,383 controls. In total, 139 risk loci were associated to hypothyroidism with genes involved in lymphocyte function.
Samuel Mathieu +9 more
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Human variation in population-wide gene expression data predicts gene perturbation phenotype
iScience, 2022 Summary: Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function “in ...
Lorenzo Bonaguro +18 more
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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.
Wilkie, A, Johnson, D, Wall, S
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Mosaicism in clinical genetics [PDF]
Molecular Case Studies, 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.
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Rare Genetic Diseases: Nature's Experiments on Human Development
iScience, 2020 Rare genetic diseases are the result of a continuous forward genetic screen that nature is conducting on humans. Here, we present epistemological and systems biology arguments highlighting the importance of studying these rare genetic diseases.
Chelsea E. Lee +3 more
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