Zobrazeno 1 - 10
of 304
pro vyhledávání: '"Anne S. Bassett"'
Autor:
Ali AlMail, Ahmed Jamjoom, Amy Pan, Min Yi Feng, Vann Chau, Alissa M. D’Gama, Katherine Howell, Nicole S. Y. Liang, Amy McTague, Annapurna Poduri, Kimberly Wiltrout, IPCHiP Executive Committee, Anne S. Bassett, John Christodoulou, Lucie Dupuis, Peter Gill, Tess Levy, Paige Siper, Zornitza Stark, Jacob A. S. Vorstman, Catherine Diskin, Natalie Jewitt, Danielle Baribeau, Gregory Costain
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-8 (2024)
Abstract Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-driven ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational prio
Externí odkaz:
https://doaj.org/article/eae52b7f6c0e4510972101b0a0c567aa
Autor:
Alexandra Finless, Andrea L. Rideout, Ting Xiong, Holly Carbyn, Patricia Lingley-Pottie, Lisa D. Palmer, Andrea Shugar, Donna M. McDonald-McGinn, Patrick J. McGrath, Anne S. Bassett, Cheryl Cytrynbaum, Matt Orr, Ann Swillen, Sandra Meier
Publikováno v:
European Journal of Psychotraumatology, Vol 15, Iss 1 (2024)
Background: 22q11 Deletion Syndrome (22q11DS) is the most common microdeletion syndrome with broad phenotypic variability, leading to significant morbidity and some mortality. The varied health problems associated with 22q11DS and the evolving phenot
Externí odkaz:
https://doaj.org/article/f793a2611d8746a2a5b64438cfcfdccd
Autor:
Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-11 (2023)
Abstract Background Elevated triglyceride (TG) levels are a heritable and modifiable risk factor for cardiovascular disease and have well-established associations with common genetic variation captured in a polygenic risk score (PRS). In young adulth
Externí odkaz:
https://doaj.org/article/e3b86bf5315244c5ade858fc4967c998
Autor:
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Abstract Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate i
Externí odkaz:
https://doaj.org/article/8c4a618d8f784a9c9f58db40b2e0cf57
Autor:
Shengjie Ying, Tracy Heung, Bhooma Thiruvahindrapuram, Worrawat Engchuan, Yue Yin, Christina Blagojevic, Zhaolei Zhang, Robert A. Hegele, Ryan K. C. Yuen, Anne S. Bassett
Publikováno v:
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-2 (2023)
Externí odkaz:
https://doaj.org/article/54f72e4c11a44f9ea01fd0644ba18273
Autor:
Bahareh A. Mojarad, Yue Yin, Roozbeh Manshaei, Ian Backstrom, Gregory Costain, Tracy Heung, Daniele Merico, Christian R. Marshall, Anne S. Bassett, Ryan K. C. Yuen
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-12 (2021)
Abstract The range of genetic variation with potential clinical implications in schizophrenia, beyond rare copy number variants (CNVs), remains uncertain. We therefore analyzed genome sequencing data for 259 unrelated adults with schizophrenia from a
Externí odkaz:
https://doaj.org/article/4ade2880bac94536bb258a0181cb9e63
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
The 22q11.2 deletion is associated with >20-fold increased risk for schizophrenia. The presence of gene DGCR8 in the 22q11.2 deletion region has suggested microRNA (miRNA) dysregulation as possibly contributing to this risk. We therefore investigated
Externí odkaz:
https://doaj.org/article/fe29874ba44847369e3e704a68df4b3e
Autor:
Natalie Blagowidow, Beata Nowakowska, Erica Schindewolf, Francesca Romana Grati, Carolina Putotto, Jeroen Breckpot, Ann Swillen, Terrence Blaine Crowley, Joanne C. Y. Loo, Lauren A. Lairson, Sólveig Óskarsdóttir, Erik Boot, Sixto Garcia-Minaur, Maria Cristina Digilio, Bruno Marino, Beverly Coleman, Julie S. Moldenhauer, Anne S. Bassett, Donna M. McDonald-McGinn
Publikováno v:
Genes, Vol 14, Iss 1, p 160 (2023)
Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indica
Externí odkaz:
https://doaj.org/article/2748a8cabd9643f5834b47d25ca52448
Autor:
Lauren K. White, T. Blaine Crowley, Brenda Finucane, Emily J. McClellan, Sarah Donoghue, Sixto Garcia-Minaur, Gabriela M. Repetto, Matthias Fischer, Sebastien Jacquemont, Raquel E. Gur, Anne M. Maillard, Kirsten A. Donald, Anne S. Bassett, Ann Swillen, Donna M. McDonald-McGinn
Publikováno v:
Genes, Vol 14, Iss 1, p 169 (2023)
Background: Research participant feedback is rarely collected; therefore, investigators have limited understanding regarding stakeholders’ (affected individuals/caregivers) motivation to participate. Members of the Genes to Mental Health Network (G
Externí odkaz:
https://doaj.org/article/be6fa2ad773b49aba3f6f4db2b2c4a33
Autor:
Lisa D. Palmer, Zoë McManus, Tracy Heung, Grace McAlpine, Christina Blagojevic, Maria Corral, Anne S. Bassett
Publikováno v:
Genes, Vol 13, Iss 11, p 2126 (2022)
The 22q11.2 microdeletion and its associated conditions could affect reproductive outcomes but there is limited information on this important area. We investigated reproductive outcomes in a sample of 368 adults with typical 22q11.2 deletions (median
Externí odkaz:
https://doaj.org/article/5c8a4a7008014b3bb9aba9fdac5dc436