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Author/Creator Connell, Patrick S.

1. A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation. Issue 1 (14th December 2018)

Authors:
Connell, Patrick S.; Jeewa, Aamir; Kearney, Debra L.; Tunuguntla, Hari; Denfield, Susan W.; Allen, Hugh D.; Landstrom, Andrew P.
Journal:
Clinical case reports
Issue:
Volume 7:Issue 1(2019)
Page Start:
211
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Amino Acid-Level Signal-to-Noise Analysis Aids in Pathogenicity Prediction of Incidentally Identified TTN-Encoded Titin Truncating Variants. (February 2021)

Authors:
Connell, Patrick S.; Berkman, Amy M.; Souder, BriAnna M.; Pirozzi, Elisa J.; Lovin, Julia J.; Rosenfeld, Jill A.; Liu, Pengfei; Tunuguntla, Hari; Allen, Hugh D.; Denfield, Susan W.; Kim, Jeffrey J.; Landstrom, Andrew P.
Journal:
Circulation
Issue:
Volume 14:Number 1(2021)
Page Start:
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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