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Author/Creator Mroske, Cameron

2. Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal‐Dominant Hereditary Connective Tissue Disease. Issue 1 (4th November 2015)

Authors:
Capuano, Alessandra; Bucciotti, Francesco; Farwell, Kelly D.; Tippin Davis, Brigette; Mroske, Cameron; Hulick, Peter J.; Weissman, Scott M.; Gao, Qingshen; Spessotto, Paola; Colombatti, Alfonso; Doliana, Roberto
Journal:
Human mutation
Issue:
Volume 37:Issue 1(2016)
Page Start:
84
Record Type:
Journal Article
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3. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. (2nd May 2018)

Authors:
Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David;...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 14(2018:Jul. 15)
Page Start:
2454
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Issue 1 (December 2015)

Authors:
Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali; Huether, Robert; Powis, Zoe; Lu, Hsiao-Mei; Baxter, Ruth; McPherson, Elizabeth; Tang, Sha
Journal:
BMC medical genetics
Issue:
Volume 16:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗