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Author/Creator Velinder, Matt

2. Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia. Issue 12 (22nd September 2018)

Authors:
Wooderchak-Donahue, Whitney L.; McDonald, Jamie; Farrell, Andrew; Akay, Gulsen; Velinder, Matt; Johnson, Peter; VanSant-Webb, Chad; Margraf, Rebecca; Briggs, Eric; Whitehead, Kevin J; Thomson, Jennifer; Lin, Angela E; Pyeritz, Reed E; Marth, Gabor; Bayrak-Toydemir, Pinar
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 12(2018)
Page Start:
824
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobio web tools. Issue 6 (23rd April 2018)

Authors:
Ward, Alistair; Karren, Mary A.; Di Sera, Tonya; Miller, Chase; Velinder, Matt; Qiao, Yi; Filloux, Francis M.; Ostrander, Betsy; Butterfield, Russell; Bonkowsky, Joshua L.; Dere, Willard; Marth, Gabor T.
Journal:
Journal of clinical and translational science
Issue:
Volume 1:Issue 6(2017)
Page Start:
381
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗