COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder

Authors: Venable, Elise, Knight, Dacre R. T., Thoreson, Emily K., Baudhuin, Linnea M.

Source: American journal of medical genetics.Part C.Seminars in medical genetics. 193(2):147-159

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185711526.0x000001&indx=1&recIds=ETOCvdc_100185711526.0x000001

Impacts of genesurance considerations on genetic counselors' practice and attitudes

Authors: Thoreson, Emily, Murphy, Lauren, Lemons, Jennifer, Farach, Laura, Wilson, Kate, Woodson, Ashley, Wagner, Chelsea

Source: Journal of genetic counseling. 29(6):1210-1220

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100110944778.0x000001&indx=1&recIds=ETOCvdc_100110944778.0x000001

COL1A1and COL1A2variants in Ehlers‐Danlossyndrome phenotypes and COL1‐related overlap disorder

Authors: Venable, Elise, Knight, Dacre R. T., Thoreson, Emily K., Baudhuin, Linnea M.

Source: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics; June 2023, Vol. 193 Issue: 2 p147-159, 13p

eP407: Aberrant KCNQ1splicing as an emerging mechanism underlying the pathogenesis of familial Beckwith-Wiedemann syndrome with reduced penetrance

Authors: Thompson, Laura, Thoreson, Emily, Groepper, Daniel, Train, Laura, Meyer, Melanie, Glessner, Heather, Fleischer, Julie, Hasadsri, Linda, Baudhuin, Linnea

Source: Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS256-S256, 1p