Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Seema Mital"'
Autor:
Olivia Moran, Cherith Somerville, Miriam Reuter, Kelsey Kalbfleisch, Marci Schwartz, Xin Chen, Roozbeh Manshaei, Raymond Kim, Seema Mital, Rebekah Jobling
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101066- (2024)
Externí odkaz:
https://doaj.org/article/7414ef41b5f34de7a504e14f32401ba1
Autor:
Elizabeth E. Blue, Janson J. White, Michael K. Dush, William W. Gordon, Brent H. Wyatt, Peter White, Colby T. Marvin, Emmi Helle, Tiina Ojala, James R. Priest, Mary M. Jenkins, Lynn M. Almli, Jennita Reefhuis, Faith Pangilinan, Lawrence C. Brody, Kim L. McBride, Vidu Garg, Gary M. Shaw, Paul A. Romitti, Wendy N. Nembhard, Marilyn L. Browne, Martha M. Werler, Denise M. Kay, Seema Mital, Jessica X. Chong, Nanette M. Nascone-Yoder, Michael J. Bamshad
Publikováno v:
HGG Advances, Vol 4, Iss 4, Pp 100232- (2023)
Summary: Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%–8% of a
Externí odkaz:
https://doaj.org/article/02c4caf366fb4060935dbf5c314b1e69
Autor:
Robert Lesurf, Abdelrahman Said, Oyediran Akinrinade, Jeroen Breckpot, Kathleen Delfosse, Ting Liu, Roderick Yao, Gabrielle Persad, Fintan McKenna, Ramil R. Noche, Winona Oliveros, Kaia Mattioli, Shreya Shah, Anastasia Miron, Qian Yang, Guoliang Meng, Michelle Chan Seng Yue, Wilson W. L. Sung, Bhooma Thiruvahindrapuram, Jane Lougheed, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John Smythe, Shashank Jayappa, Vinay J. Rao, Jayaprakash Shenthar, Perundurai S. Dhandapany, Christopher Semsarian, Robert G. Weintraub, Richard D. Bagnall, Jodie Ingles, Genomics England Research Consortium, Marta Melé, Philipp G. Maass, James Ellis, Stephen W. Scherer, Seema Mital
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-17 (2022)
Abstract Cardiomyopathy (CMP) is a heritable disorder. Over 50% of cases are gene-elusive on clinical gene panel testing. The contribution of variants in non-coding DNA elements that result in cryptic splicing and regulate gene expression has not bee
Externí odkaz:
https://doaj.org/article/98efc3d1863c49afbe226a84a5eb5c6f
Autor:
Jui M. Dave, Raja Chakraborty, Aglaia Ntokou, Junichi Saito, Fatima Z. Saddouk, Zhonghui Feng, Ashish Misra, George Tellides, Robert K. Riemer, Zsolt Urban, Caroline Kinnear, James Ellis, Seema Mital, Robert Mecham, Kathleen A. Martin, Daniel M. Greif
Publikováno v:
The Journal of Clinical Investigation, Vol 132, Iss 5 (2022)
Obstructive arterial diseases, including supravalvular aortic stenosis (SVAS), atherosclerosis, and restenosis, share 2 important features: an abnormal or disrupted elastic lamellae structure and excessive smooth muscle cells (SMCs). However, the rel
Externí odkaz:
https://doaj.org/article/bda34fa236654cf0b5d73fcdbc8fcfd1
Autor:
Minh B. Nguyen, Seema Mital, Luc Mertens, Aamir Jeewa, Mark K. Friedberg, Julien Aguet, Arnon Adler, Christopher Z. Lam, Andreea Dragulescu, Harry Rakowski, Olivier Villemain
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 5 (2022)
Pediatric hypertrophic cardiomyopathy (HCM) is the most common form of cardiomyopathy in children and a leading cause of sudden cardiac death. Yet, the association between genotype variation, phenotype expression, and adverse events in pediatric HCM
Externí odkaz:
https://doaj.org/article/882176945cff4a7489c5944d1203dd59
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-10 (2020)
Abstract Background Whole-genome sequencing (WGS) is becoming an increasingly important tool for detecting genomic variation. Blood derived DNA is the current standard for WGS for research or clinical purposes but may not always be feasible to acquir
Externí odkaz:
https://doaj.org/article/54df200c1d0941c19d7f7714f9c55264
Autor:
Matthew R. Hildebrandt, Miriam S. Reuter, Wei Wei, Naeimeh Tayebi, Jiajie Liu, Sazia Sharmin, Jaap Mulder, L. Stephen Lesperance, Patrick M. Brauer, Rebecca S.F. Mok, Caroline Kinnear, Alina Piekna, Asli Romm, Jennifer Howe, Peter Pasceri, Guoliang Meng, Matthew Rozycki, Deivid C. Rodrigues, Elisa C. Martinez, Michael J. Szego, Juan C. Zúñiga-Pflücker, Michele K. Anderson, Steven A. Prescott, Norman D. Rosenblum, Binita M. Kamath, Seema Mital, Stephen W. Scherer, James Ellis
Publikováno v:
Stem Cell Reports, Vol 13, Iss 6, Pp 1126-1141 (2019)
Summary: Induced pluripotent stem cells (iPSC) derived from healthy individuals are important controls for disease-modeling studies. Here we apply precision health to create a high-quality resource of control iPSCs. Footprint-free lines were reprogra
Externí odkaz:
https://doaj.org/article/7ac621f9b435435cbc07d7300e6d6051
Autor:
Tanya Papaz, Eriskay Liston, Laura Zahavich, Dimitri J. Stavropoulos, Rebekah K. Jobling, Raymond H. Kim, Miriam Reuter, Anastasia Miron, Erwin Oechslin, Tapas Mondal, Lynn Bergin, John F. Smythe, Luis Altamirano-Diaz, Jane Lougheed, Roderick Yao, Oyediran Akinrinade, Jeroen Breckpot, Seema Mital
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-9 (2019)
Abstract Background Assess process, uptake, validity and resource needs for return of actionable research findings to biobank participants. Methods Participants were prospectively enrolled in a multicenter biorepository of childhood onset heart disea
Externí odkaz:
https://doaj.org/article/60384f376e53477d98d735977c10f3ad
Autor:
Polakit Teekakirikul, Wenjuan Zhu, George C. Gabriel, Cullen B. Young, Kylia Williams, Lisa J. Martin, Jennifer C. Hill, Tara Richards, Marie Billaud, Julie A. Phillippi, Jianbin Wang, Yijen Wu, Tuantuan Tan, William Devine, Jiuann-huey Lin, Abha S. Bais, Jonathan Klonowski, Anne Moreau de Bellaing, Ankur Saini, Michael X. Wang, Leonid Emerel, Nathan Salamacha, Samuel K. Wyman, Carrie Lee, Hung Sing Li, Anastasia Miron, Jingyu Zhang, Jianhua Xing, Dennis M. McNamara, Erik Fung, Paul Kirshbom, William Mahle, Lazaros K. Kochilas, Yihua He, Vidu Garg, Peter White, Kim L. McBride, D. Woodrow Benson, Thomas G. Gleason, Seema Mital, Cecilia W. Lo
Publikováno v:
HGG Advances, Vol 2, Iss 3, Pp 100037- (2021)
Summary: Bicuspid aortic valve (BAV) with ∼1%–2% prevalence is the most common congenital heart defect (CHD). It frequently results in valve disease and aorta dilation and is a major cause of adult cardiac surgery. BAV is genetically linked to ra
Externí odkaz:
https://doaj.org/article/0b7019f7bd454037bec2471ea5feef8c
Autor:
Thomas D. Ryan, William L. Border, Carissa Baker-Smith, Ana Barac, Matthew J. Bock, Mary M. Canobbio, Nadine F. Choueiter, Devyani Chowdhury, Katheryn E. Gambetta, Julie S. Glickstein, Lavanya Kondapalli, Seema Mital, Vasum Peiris, Russell J. Schiff, Robert L. Spicer, Jeffrey A. Towbin, Ming Hui Chen
Publikováno v:
Cardio-Oncology, Vol 5, Iss 1, Pp 1-7 (2019)
Abstract Objective To enhance the understanding of cardiovascular care delivery in childhood cancer patients and survivors. Study design A 20-question survey was created by the Pediatric Cardio-oncology Work Group of the American College of Cardiolog
Externí odkaz:
https://doaj.org/article/a27e73f84f1d40feab493648606dddf5