Zobrazeno 1 - 10
of 347
pro vyhledávání: '"Joan E. Bailey‐Wilson"'
Autor:
Claire L. Simpson, Danielle C. Kimble, Settara C. Chandrasekharappa, NISC Comparative Sequencing Program, Khalid Alqosayer, Emily Holzinger, Blake Carrington, John McElderry, Raman Sood, Ghiath Al‐Souqi, Hasan Albacha‐Hejazi, Joan E. Bailey‐Wilson
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 8, Pp n/a-n/a (2023)
Abstract Background Oral clefts and ectrodactyly are common, heterogeneous birth defects. We performed whole‐exome sequencing (WES) analysis in a Syrian family. The proband presented with both orofacial clefting and ectrodactyly but not ectodermal
Externí odkaz:
https://doaj.org/article/ddbc8f557cdb439099ba7e3e4e0a688a
Autor:
Anthony M. Musolf, Annechien E. G. Haarman, Robert N. Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D. Lewis, Milly S. Tedja, Adriana I. Iglesias, Hengtong Li, Cameron S. Cowan, Consortium for Refractive Error and Myopia (CREAM), Ginevra Biino, Alison P. Klein, Priya Duggal, David A. Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G. Hysi, Anthony P. Khawaja, Veronique Vitart, Christopher J. Hammond, Cornelia M. van Duijn, Virginie J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-17 (2023)
A multi-ethnic meta-analysis of exome array data from over 27,000 participants identifies several rare variants that could contribute to risk of ocular refractive error.
Externí odkaz:
https://doaj.org/article/bd8c4caa72a641eab1075fd26afb62da
Autor:
Prabhavi Wijesiriwardhana, Anthony M. Musolf, Joan E. Bailey-Wilson, T. Kalum Wetthasinghe, Vajira H. W. Dissanayake
Publikováno v:
BMC Research Notes, Vol 15, Iss 1, Pp 1-7 (2022)
Abstract Objective Although linkage studies have been utilized for the identification of variants associated with cancer in the world, little is known about their role in non BRCA1/2 individuals in the Sri Lankans. Hence we performed linkage analysis
Externí odkaz:
https://doaj.org/article/7401957487c0499a99ad4a428de1823a
Autor:
Elaine Tierney, Alan T. Remaley, Audrey Thurm, Leah R. Jager, Christopher A. Wassif, Lisa E. Kratz, Joan E. Bailey-Wilson, Irena Bukelis, Geeta Sarphare, Eun Sol Jung, Boudewien Brand, Kelly K. Noah, Forbes D. Porter
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract An improved understanding of sterol and lipid abnormalities in individuals with autism spectrum disorder (ASD) could lead to personalized treatment approaches. Toward this end, in blood, we identified reduced synthesis of cholesterol in fami
Externí odkaz:
https://doaj.org/article/b632fffbd72b4cc2b85b11e552267303
Autor:
Claire L. Simpson, Anthony M. Musolf, Qing Li, Laura Portas, Federico Murgia, Roberto Y. Cordero, Jennifer B. Cordero, Bilal A. Moiz, Emily R. Holzinger, Candace D. Middlebrooks, Deyana D. Lewis, Joan E. Bailey-Wilson, Dwight Stambolian
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-11 (2019)
Abstract Background Myopia is one of most common eye diseases in the world and affects 1 in 4 Americans. It is a complex disease caused by both environmental and genetics effects; the genetics effects are still not well understood. In this study, we
Externí odkaz:
https://doaj.org/article/2cf6d5d12b7e43948f247492dabbc56b
Autor:
Niamh X. Cawley, Anna T. Lyons, Daniel Abebe, Rachel Luke, Julia Yerger, Rebecca Telese, Christopher A. Wassif, Joan E. Bailey-Wilson, Forbes D. Porter
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 9, p 5082 (2022)
Complex asparagine-linked glycosylation plays key roles in cellular functions, including cellular signaling, protein stability, and immune response. Previously, we characterized the appearance of a complex asparagine-linked glycosylated form of lysos
Externí odkaz:
https://doaj.org/article/8a8f34aa46244eb9aff43153a06e4e10
Autor:
Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-8 (2017)
Fuchs endothelial corneal dystrophy (FECD) is one of the most common reasons for corneal transplantation, and is known to cluster in families. Here, the authors discover new genetic loci associated with FECD with sex-specific effects and implications
Externí odkaz:
https://doaj.org/article/d1c65f3362014583bd22c5188abefc76
Autor:
Rosie Clark, Samantha Sze-Yee Lee, Ran Du, Yining Wang, Sander C.M. Kneepkens, Jason Charng, Yu Huang, Michael L. Hunter, Chen Jiang, J.Willem L. Tideman, Ronald B. Melles, Caroline C.W. Klaver, David A. Mackey, Cathy Williams, Hélène Choquet, Kyoko Ohno-Matsui, Jeremy A. Guggenheim, Joan E. Bailey-Wilson, Paul N. Baird, Veluchamy A. Barathi, Ginevra Biino, Kathryn P. Burdon, Harry Campbell, Li Jia Chen, Ching-Yu Cheng, Emily Y. Chew, Jamie E. Craig, Margaret M. Deangelis, Cécile Delcourt, Xiaohu Ding, Qiao Fan, Maurizio Fossarello, Paul J. Foster, Puya Gharahkhani, Xiaobo Guo, Annechien E.G. Haarman, Toomas Haller, Christopher J. Hammond, Xikun Han, Caroline Hayward, Mingguang He, Alex W. Hewitt, Quan Hoang, Pirro G. Hysi, Adriana I. Iglesias, Robert P. Igo, Sudha K. Iyengar, Jost B. Jonas, Mika Kähönen, Jaakko Kaprio, Anthony P. Khawaja, Barbara E. Klein, Jonathan H. Lass, Kris Lee, Terho Lehtimäki, Deyana Lewis, Qing Li, Shi-Ming Li, Leo-Pekka Lyytikäinen, Stuart MacGregor, Nicholas G. Martin, Akira Meguro, Andres Metspalu, Candace Middlebrooks, Masahiro Miyake, Nobuhisa Mizuki, Anthony Musolf, Stefan Nickels, Konrad Oexle, Chi Pui Pang, Olavi Pärssinen, Andrew D. Paterson, Norbert Pfeiffer, Ozren Polasek, Jugnoo S. Rahi, Olli Raitakari, Igor Rudan, Srujana Sahebjada, Seang-Mei Saw, Claire L. Simpson, Dwight Stambolian, E-Shyong Tai, Milly S. Tedja, J. Willem L. Tideman, Akitaka Tsujikawa, Cornelia M. van Duijn, Virginie J.M. Verhoeven, Veronique Vitart, Ningli Wang, Ya Xing Wang, Juho Wedenoja, Wen Bin Wei, Katie M. Williams, James F. Wilson, Robert Wojciechowski, Jason C.S. Yam, Kenji Yamashiro, Maurice K.H. Yap, Seyhan Yazar, Shea Ping Yip, Terri L. Young, Xiangtian Zhou, Naomi Allen, Tariq Aslam, Denize Atan, Sarah Barman, Jenny Barrett, Paul Bishop, Graeme Black, Catey Bunce, Roxana Carare, Usha Chakravarthy, Michelle Chan, Sharon Chua, Valentina Cipriani, Alexander Day, Parul Desai, Bal Dhillon, Andrew Dick, Alexander Doney, Cathy Egan, Sarah Ennis, Paul Foster, Marcus Fruttiger, John Gallacher, David Garway-Heath, Jane Gibson, Dan Gore, Jeremy Guggenheim, Chris Hammond, Alison Hardcastle, Simon Harding, Ruth Hogg, Pirro Hysi, Pearse A. Keane, Peng Tee Khaw, Anthony Khawaja, Gerassimos Lascaratos, Thomas Littlejohns, Andrew Lotery, Phil Luthert, Tom MacGillivray, Sarah Mackie, Bernadette McGuinness, Gareth McKay, Martin McKibbin, Danny Mitry, Tony Moore, James Morgan, Zaynah Muthy, Eoin O'Sullivan, Chris Owen, Praveen Patel, Euan Paterson, Tunde Peto, Axel Petzold, Nikolas Pontikos, Jugnoo Rahi, Alicja Rudnicka, Jay Self, Panagiotis Sergouniotis, Sobha Sivaprasad, David Steel, Irene Stratton, Nicholas Strouthidis, Cathie Sudlow, Robyn Tapp, Caroline Thaung, Dhanes Thomas, Emanuele Trucco, Adnan Tufail, Stephen Vernon, Ananth Viswanathan, Katie Williams, Jayne Woodside, Max Yates, Jennifer Yip, Yalin Zheng
Publikováno v:
Ebiomedicine, 91
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551
EBioMedicine, 91:104551. Elsevier BV
EBioMedicine, 91:104551. Elsevier
CREAM Consortium & UK Biobank Eye and Vision Consortium 2023, ' A new polygenic score for refractive error improves detection of children at risk of high myopia but not the prediction of those at risk of myopic macular degeneration ', EBioMedicine, vol. 91, 104551 . https://doi.org/10.1016/j.ebiom.2023.104551
Contains fulltext : 292919.pdf (Publisher’s version ) (Open Access) BACKGROUND: High myopia (HM), defined as a spherical equivalent refractive error (SER) ≤ -6.00 diopters (D), is a leading cause of sight impairment, through myopic macular degene
Autor:
Shuqi Wang, Chi‐Yang Chiu, Alexander F. Wilson, Joan E. Bailey‐Wilson, Elvira Agron, Emily Y. Chew, Jaeil Ahn, Momiao Xiong, Ruzong Fan
Publikováno v:
Genetic Epidemiology.
Autor:
Marshall W. Anderson, Christopher I. Amos, Joan E. Bailey-Wilson, John Minna, Daniela Seminara, Elena Kupert, Juwon Lee, Teresa Coons, Diptasri Mandal, Henry Rothschild, Colette Gaba, Adi Gazdar, Luc Girard, Ann G. Schwartz, Pamela R. Fain, Jonathan S. Wiest, Julie M. Cunningham, Yanhong Wu, Mariza de Andrade, Gloria M. Petersen, Nat Rothman, Wong-Ho Chow, Yong-Bing Xiang, Yu-Tang Gao, Jirong Long, Xiao-Ou Shu, Wei Zheng, Susan M. Pinney, Zhifu Sun, Ping Yang, Weidong Wen, Yan Liu, Dongmei Jia, Qiong Chen, Min Wang, Yian Wang, Yan Lu, Michael James, Haris Vikis, Pengyuan Liu, Daolong Wang, Ming You
Purpose: We have previously mapped a major susceptibility locus influencing familial lung cancer risk to chromosome 6q23-25. However, the causal gene at this locus remains undetermined. In this study, we further refined this locus to identify a singl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cf8fade561dbe17f768bd6dcc80b09f
https://doi.org/10.1158/1078-0432.c.6517600.v1
https://doi.org/10.1158/1078-0432.c.6517600.v1