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Steven R DePalma

Showing results (31-40 of 47) with videos related to

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Iscience|January 29, 2025
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impactEnrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 18, 2022
An ancient founder mutation located between <i>ROBO1</i> and <i>ROBO2</i> is responsible for increased microtia risk in Amerindigenous populationsDaniel Quiat, Seong Won Kim, Qi Zhang, et al.
The Journal of Clinical Investigation|June 3, 2024
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypesDavid M McKean, Qi Zhang, Priyanka Narayan, et al.
Circulation. Genomic and Precision Medicine|February 16, 2026
<i>ROBO2</i> Variants Associated With Atrial Septal Defect Define a Novel Regulatory ElementSeong Won Kim, Michael Parfenov, Laura Rodriguez-Murillo, et al.
American Journal of Human Genetics|September 11, 2012
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohortsAlexander G Bick, Jason Flannick, Kaoru Ito, et al.
Circulation Research|September 11, 2014
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataJoseph T Glessner, Alexander G Bick, Kaoru Ito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Circulation. Genomic and Precision Medicine|May 11, 2023
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart DiseaseMin Young Jang, Parth N Patel, Alexandre C Pereira, et al.
Elife|October 15, 2020
<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragmArun Sharma, Lauren K Wasson, Jon Al Willcox, et al.
Circulation|May 28, 2026
Integrative Molecular Analyses of Inflammatory and Autoimmune Signals in Cardiac SarcoidosisMeraj Neyazi, Gabriela Venturini, Kemar J Brown, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Iscience|January 29, 2025
Noncoding variants and sulcal patterns in congenital heart disease: Machine learning to predict functional impactEnrique Mondragon-Estrada, Jane W Newburger, Steven R DePalma, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 18, 2022
An ancient founder mutation located between <i>ROBO1</i> and <i>ROBO2</i> is responsible for increased microtia risk in Amerindigenous populationsDaniel Quiat, Seong Won Kim, Qi Zhang, et al.
The Journal of Clinical Investigation|June 3, 2024
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypesDavid M McKean, Qi Zhang, Priyanka Narayan, et al.
Circulation. Genomic and Precision Medicine|February 16, 2026
<i>ROBO2</i> Variants Associated With Atrial Septal Defect Define a Novel Regulatory ElementSeong Won Kim, Michael Parfenov, Laura Rodriguez-Murillo, et al.
American Journal of Human Genetics|September 11, 2012
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohortsAlexander G Bick, Jason Flannick, Kaoru Ito, et al.
Circulation Research|September 11, 2014
Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence dataJoseph T Glessner, Alexander G Bick, Kaoru Ito, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 19, 2022
Damaging variants in FOXI3 cause microtia and craniofacial microsomiaDaniel Quiat, Andrew T Timberlake, Justin J Curran, et al.
Circulation. Genomic and Precision Medicine|May 11, 2023
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart DiseaseMin Young Jang, Parth N Patel, Alexandre C Pereira, et al.
Elife|October 15, 2020
<i>GATA6</i> mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragmArun Sharma, Lauren K Wasson, Jon Al Willcox, et al.
Circulation|May 28, 2026
Integrative Molecular Analyses of Inflammatory and Autoimmune Signals in Cardiac SarcoidosisMeraj Neyazi, Gabriela Venturini, Kemar J Brown, et al.
Pageof 5