Search Results - "Ackerman, Jaeger P"

The Promise and Peril of Precision Medicine by Ackerman, Jaeger P., BA, Bartos, Daniel C., PhD, Kapplinger, Jamie D., BS, Tester, David J., BS, Delisle, Brian P., PhD, Ackerman, Michael J., MD, PhD

“…Abstract We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS)…”
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The Promise and Peril of Precision Medicine: Phenotyping Still Matters Most by Ackerman, Jaeger P, Bartos, Daniel C, Kapplinger, Jamie D, Tester, David J, Delisle, Brian P, Ackerman, Michael J

“…We illustrate the work necessary to reverse course after identification of a KCNQ1 variant interpreted erroneously as causing long QT syndrome (LQTS) and to…”
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Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series by Shanks, Garrett W, Tester, David J, Ackerman, Jaeger P, Simpson, Michael A, Behr, Elijah R, White, Steven M, Ackerman, Michael J

“…BACKGROUND:Potentially lethal cardiac channelopathies/cardiomyopathies may underlie a substantial portion of sudden unexplained death in the young (SUDY). The…”
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Plakophilin-2 Truncation Variants in Patients Clinically Diagnosed With Catecholaminergic Polymorphic Ventricular Tachycardia and Decedents With Exercise-Associated Autopsy Negative Sudden Unexplained Death in the Young by Tester, David J., Ackerman, Jaeger P., Giudicessi, John R., Ackerman, Nicholas C., Cerrone, Marina, Delmar, Mario, Ackerman, Michael J.

“…This study determined if radical plakophilin-2 (PKP2) variants might underlie some cases of clinically diagnosed catecholaminergic polymorphic ventricular…”
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Elucidation of MRAS -mediated Noonan syndrome with cardiac hypertrophy by Higgins, Erin M, Bos, J Martijn, Mason-Suares, Heather, Tester, David J, Ackerman, Jaeger P, MacRae, Calum A, Sol-Church, Katia, Gripp, Karen W, Urrutia, Raul, Ackerman, Michael J

“…Noonan syndrome (NS; MIM 163950) is an autosomal dominant disorder and a member of a family of developmental disorders termed "RASopathies," which are caused…”
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Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia by Krivoshchekov, Evgeny V, Ackerman, Jaeger P, Yanulevich, Olga S, Sokolov, Alexander A, Ershova, Nadezhda V, Dearani, Joseph A, Cetta, Frank

“…The cone reconstruction technique, first described by da Silva and modified by Dearani and by others, has become the repair method of choice in patients with…”
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Whole Exome Sequencing, Familial Genomic Triangulation, and Systems Biology Converge to Identify a Novel Nonsense Mutation in TAB2-encoded TGF-beta Activated Kinase 1 in a Child with Polyvalvular Syndrome by Ackerman, Jaeger P, Smestad, John A, Tester, David J, Qureshi, Muhammad Y, Crabb, Beau A, Mendelsohn, Nancy J, Ackerman, Michael J

“…To use whole exome sequencing (WES) of a family trio to identify a genetic cause for polyvalvular syndrome. A male child was born with mild pulmonary valve…”
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Abstract 18770: Elucidation of MRAS-Mediated Noonan Syndrome With Cardiac Hypertrophy by Higgins, Erin M, Bos, Johan M, Ackerman, Jaeger P, Mason-Suares, Heather, MacRae, Calum A, Sol-Church, Katia, Gripp, Karen W, Urrutia, Raul A, Ackerman, Michael J

“…IntroductionNoonan syndrome (NS) is an autosomal dominant disorder with a characteristic clinical phenotype of facial dysmorphisms, short stature, and…”
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