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Genetics in Medicine
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Papers 3625
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#1Nick Dragojlovic (UBC: University of British Columbia)H-Index: 5
#2Kennedy J. Borle (UBC: University of British Columbia)
Last. Larry D. Lynd (UBC: University of British Columbia)H-Index: 28
view all 11 authors...
As genetics becomes increasingly integrated into all areas of health care and the use of complex genetic tests continues to grow, the clinical genetics workforce will likely face greatly increased demand for its services. To inform strategic planning by health-care systems to prepare to meet this future demand, we performed a scoping review of the genetics workforce in high-income countries, summarizing all available evidence on its composition and capacity published between 2010 and 2019. Five ...
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#1Bo Yuan (Baylor University)H-Index: 19
#2Lei Wang (Baylor University)
Last. Xia Wang (Baylor University)H-Index: 30
view all 31 authors...
Improved resolution of molecular diagnostic technologies enabled detection of smaller sized exonic level copy-number variants (CNVs). The contribution of CNVs to autosomal recessive (AR) conditions may be better recognized using a large clinical cohort. We retrospectively investigated the CNVs’ contribution to AR conditions in cases subjected to chromosomal microarray analysis (CMA, N = ~70,000) and/or clinical exome sequencing (ES, N = ~12,000) at Baylor Genetics; most had pediatric onset neuro...
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#1Claire Green (Boston Children's Hospital)
#2Neeti Ghali (NWU: North-West University)H-Index: 1
Last. Erin Chamberlain (Halifax)
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Currently, 31 patients with classical-like EDS (clEDS) due to tenascin-X deficiency have been reported in the literature. We report on the clinical and molecular characteristics of 20 additional patients with clEDS to expand knowledge and to enable improved management of this rare genetic disorder. Patients diagnosed with clEDS by the national EDS service in the UK (n = 21) and abroad (n = 1) were asked for consent for publication of their clinical and molecular data. Of 22 patients, 20 consente...
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Pathology
Genetic testing
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