Zobrazeno 1 - 10
of 134
pro vyhledávání: '"Sheng-Chih Jin"'
Autor:
Sara A. Lewis, Andrew Ruttenberg, Tuğçe Iyiyol, Nahyun Kong, Sheng Chih Jin, Michael C. Kruer
Publikováno v:
EBioMedicine, Vol 106, Iss , Pp 105229- (2024)
Summary: Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging research suggests that genetic variations are also important causes of CP. While microarray and whole-exome sequencing based studies have been the primary
Externí odkaz:
https://doaj.org/article/6f7984c072f1402ab02a3da0e5627c09
Autor:
Shujuan Zhao, Kedous Y. Mekbib, Martijn A. van der Ent, Garrett Allington, Andrew Prendergast, Jocelyn E. Chau, Hannah Smith, John Shohfi, Jack Ocken, Daniel Duran, Charuta G. Furey, Le Thi Hao, Phan Q. Duy, Benjamin C. Reeves, Junhui Zhang, Carol Nelson-Williams, Di Chen, Boyang Li, Timothy Nottoli, Suxia Bai, Myron Rolle, Xue Zeng, Weilai Dong, Po-Ying Fu, Yung-Chun Wang, Shrikant Mane, Paulina Piwowarczyk, Katie Pricola Fehnel, Alfred Pokmeng See, Bermans J. Iskandar, Beverly Aagaard-Kienitz, Quentin J. Moyer, Evan Dennis, Emre Kiziltug, Adam J. Kundishora, Tyrone DeSpenza, Ana B. W. Greenberg, Seblewengel M. Kidanemariam, Andrew T. Hale, James M. Johnston, Eric M. Jackson, Phillip B. Storm, Shih-Shan Lang, William E. Butler, Bob S. Carter, Paul Chapman, Christopher J. Stapleton, Aman B. Patel, Georges Rodesch, Stanislas Smajda, Alejandro Berenstein, Tanyeri Barak, E. Zeynep Erson-Omay, Hongyu Zhao, Andres Moreno-De-Luca, Mark R. Proctor, Edward R. Smith, Darren B. Orbach, Seth L. Alper, Stefania Nicoli, Titus J. Boggon, Richard P. Lifton, Murat Gunel, Philip D. King, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-23 (2023)
Abstract To elucidate the pathogenesis of vein of Galen malformations (VOGMs), the most common and most severe of congenital brain arteriovenous malformations, we performed an integrated analysis of 310 VOGM proband-family exomes and 336,326 human ce
Externí odkaz:
https://doaj.org/article/3ca7b90963454521ac767ab9c7496a24
Autor:
Weilai Dong, Karen H.Y. Wong, Youbin Liu, Michal Levy-Sakin, Wei-Chien Hung, Mo Li, Boyang Li, Sheng Chih Jin, Jungmin Choi, Francesc Lopez-Giraldez, Dedeepya Vaka, Annie Poon, Catherine Chu, Richard Lao, Melek Balamir, Irina Movsesyan, Mary J. Malloy, Hongyu Zhao, Pui-Yan Kwok, John P. Kane, Richard P. Lifton, Clive R. Pullinger
Publikováno v:
Journal of Lipid Research, Vol 63, Iss 6, Pp 100209- (2022)
Low levels of high density lipoprotein-cholesterol (HDL-C) are associated with an elevated risk of arteriosclerotic coronary heart disease. Heritability of HDL-C levels is high. In this research discovery study, we used whole-exome sequencing to iden
Externí odkaz:
https://doaj.org/article/9009d5614d1843c1a294988f08875cf9
Publikováno v:
PLoS Genetics, Vol 18, Iss 6, p e1010252 (2022)
De novo variants (DNVs) with deleterious effects have proved informative in identifying risk genes for early-onset diseases such as congenital heart disease (CHD). A number of statistical methods have been proposed for family-based studies or case/co
Externí odkaz:
https://doaj.org/article/e1096c120fcf48b9b7d8dc501260aaf1
Autor:
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanıdır, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan‐Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)
Abstract Backgrounds While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. Methods We recruited 73 CHD probands from consanguineous f
Externí odkaz:
https://doaj.org/article/39b2f4ecf67e4a60a85026ddb21fc06b
Autor:
Hanmin Guo, Lin Hou, Yu Shi, Sheng Chih Jin, Xue Zeng, Boyang Li, Richard P Lifton, Martina Brueckner, Hongyu Zhao, Qiongshi Lu
Publikováno v:
eLife, Vol 11 (2022)
Exome sequencing on tens of thousands of parent-proband trios has identified numerous deleterious de novo mutations (DNMs) and implicated risk genes for many disorders. Recent studies have suggested shared genes and pathways are enriched for DNMs acr
Externí odkaz:
https://doaj.org/article/b478a942d7ba4b5d8bc9e5c444088253
Autor:
Ivana Dzinovic, Matej Škorvánek, Petra Pavelekova, Chen Zhao, Boris Keren, Sandra Whalen, Somayeh Bakhtiari, Sheng Chih Jin, Michael C. Kruer, Robert Jech, Juliane Winkelmann, Michael Zech
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 4, Pp 951-955 (2021)
Abstract The role of genetics in the causation of cerebral palsy has become the focus of many studies aiming to unravel the heterogeneous etiology behind this frequent neurodevelopmental disorder. A recent paper reported two unrelated children with a
Externí odkaz:
https://doaj.org/article/b5b5d32dfe1445808140659514bf03e7
Autor:
Clara Sze Man Tang, Mimmi Mononen, Wai-Yee Lam, Sheng Chih Jin, Xuehan Zhuang, Maria-Mercè Garcia-Barcelo, Qiongfen Lin, Yujia Yang, Makoto Sahara, Elif Eroglu, Kenneth R. Chien, Haifa Hong, Paul Kwong Hang Tam, Peter J. Gruber
Publikováno v:
JCI Insight, Vol 7, Iss 2 (2022)
Tetralogy of Fallot (TOF) is the most common cyanotic heart defect, yet the underlying genetic mechanisms remain poorly understood. Here, we performed whole-genome sequencing analysis on 146 nonsyndromic TOF parent-offspring trios of Chinese ethnicit
Externí odkaz:
https://doaj.org/article/d91ab361a59a4841b58371be7eae5b00
Autor:
Andrew T. Timberlake, Stephen McGee, Garrett Allington, Emre Kiziltug, Erin M. Wolfe, Amy L. Stiegler, Titus J. Boggon, May Sanyoura, Michelle Morrow, Tara L. Wenger, Erica M. Fernandes, Oana Caluseriu, John A. Persing, Sheng Chih Jin, Richard P. Lifton, Kristopher T. Kahle, Paul Kruszka
Publikováno v:
The American Journal of Human Genetics. 110:846-862
Autor:
Adam J. Kundishora, Garrett Allington, Stephen McGee, Kedous Y. Mekbib, Vladimir Gainullin, Andrew T. Timberlake, Carol Nelson-Williams, Emre Kiziltug, Hannah Smith, Jack Ocken, John Shohfi, August Allocco, Phan Q. Duy, Aladine A. Elsamadicy, Weilai Dong, Shujuan Zhao, Yung-Chun Wang, Hanya M. Qureshi, Michael L. DiLuna, Shrikant Mane, Irina R. Tikhonova, Po-Ying Fu, Christopher Castaldi, Francesc López-Giráldez, James R. Knight, Charuta G. Furey, Bob S. Carter, Shozeb Haider, Andres Moreno-De-Luca, Seth L. Alper, Murat Gunel, Francisca Millan, Richard P. Lifton, Rebecca I. Torene, Sheng Chih Jin, Kristopher T. Kahle
Publikováno v:
Nature Medicine. 29:667-678