Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Pilar L. Magoulas"'
Autor:
Nidhy P. Varghese, Akhilesh A. Padhye, Pilar L. Magoulas, George B. Mallory, Fadel E. Ruiz, Sandeep Sahay
Publikováno v:
Pulmonary Circulation, Vol 13, Iss 3, Pp n/a-n/a (2023)
Abstract Heritable pulmonary artery hypertension (HPAH) is an increasingly recognized type of pulmonary arterial hypertension, in both pediatric and adult population. Intrinsic to hereditary disease, screening for genetic mutations within families is
Externí odkaz:
https://doaj.org/article/606616355a4c4ac1a9e6bb7463e9f388
Autor:
Lei Wang, Mauricio R. Delgado, Margarita Saenz, Hongzheng Dai, Daryl A. Scott, Kathryn Curry, Bo Yuan, Anh Dang, Wenmiao Zhu, John Lattier, Rui Xiao, Suneeta Madan-Khetarpal, Linyan Meng, Tiana M. Scott, Pilar L. Magoulas, Haley Streff, Jessica Sebastian, Jill A. Rosenfeld, Haowei Du, Seema R. Lalani, James R. Lupski, Jennifer E. Posey, Ronit Marom, Vipulkumar Patel, Weimin Bi, Neil A. Hanchard, Chun-An Chen, Shayna Svihovec, Pengfei Liu, Fan Xia, Christine M. Eng
Publikováno v:
Genet Med
PURPOSE: The BRG1/BRM-associated factor (BAF) complex is a chromatin remodeling complex playing a critical role in gene regulation. Defects in the genes encoding the BAF subunits lead to BAFopathies, a group of neurodevelopmental disorders with exten
Autor:
Farah A. Ladha, Cynthia Le Mons, William J. Craigen, Pilar L. Magoulas, Ronit Marom, Andrea M. Lewis
Publikováno v:
Molecular Genetics and Metabolism. 139:107609
Autor:
Maria I. Kontaridis, Amy E. Roberts, Lisa Schill, Lisa Schoyer, Beth Stronach, Gregor Andelfinger, Yoko Aoki, Marni E. Axelrad, Annette Bakker, Anton M. Bennett, Alberto Broniscer, Pau Castel, Caitlin A. Chang, Lukas Cyganek, Tirtha K. Das, Jeroen Hertog, Emilia Galperin, Shruti Garg, Bruce D. Gelb, Kristiana Gordon, Tamar Green, Karen W. Gripp, Maxim Itkin, Maija Kiuru, Bruce R. Korf, Jeff R. Livingstone, Alejandro López‐Juárez, Pilar L. Magoulas, Sahar Mansour, Theresa Milner, Elisabeth Parker, Elizabeth I. Pierpont, Kevin Plouffe, Katherine A. Rauen, Suma P. Shankar, Shane B. Smith, David A. Stevenson, Marco Tartaglia, Richard Van, Morgan E. Wagner, Stephanie M. Ware, Martin Zenker
Publikováno v:
American journal of medical genetics. Part A, vol 188, iss 6
Kontaridis, M I, Roberts, A E, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, M E, Bakker, A, Bennett, A M, Broniscer, A, Castel, P, Chang, C A, Cyganek, L, Das, T K, den Hertog, J, Galperin, E, Garg, S, Gelb, B D, Gordon, K, Green, T, Gripp, K W, Itkin, M, Kiuru, M, Korf, B R, Livingstone, J R, López-Juárez, A, Magoulas, P L, Mansour, S, Milner, T, Parker, E, Pierpont, E I, Plouffe, K, Rauen, K A, Shankar, S P, Smith, S B, Stevenson, D A, Tartaglia, M, Van, R, Wagner, M E, Ware, S M & Zenker, M 2022, ' The seventh international RASopathies symposium : Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62716
American Journal of Medical Genetics, Part A, 188(6), 1915-1927. Wiley-Liss Inc.
Kontaridis, M I, Roberts, A E, Schill, L, Schoyer, L, Stronach, B, Andelfinger, G, Aoki, Y, Axelrad, M E, Bakker, A, Bennett, A M, Broniscer, A, Castel, P, Chang, C A, Cyganek, L, Das, T K, den Hertog, J, Galperin, E, Garg, S, Gelb, B D, Gordon, K, Green, T, Gripp, K W, Itkin, M, Kiuru, M, Korf, B R, Livingstone, J R, López-Juárez, A, Magoulas, P L, Mansour, S, Milner, T, Parker, E, Pierpont, E I, Plouffe, K, Rauen, K A, Shankar, S P, Smith, S B, Stevenson, D A, Tartaglia, M, Van, R, Wagner, M E, Ware, S M & Zenker, M 2022, ' The seventh international RASopathies symposium : Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery ', American Journal of Medical Genetics. Part A . https://doi.org/10.1002/ajmg.a.62716
American Journal of Medical Genetics, Part A, 188(6), 1915-1927. Wiley-Liss Inc.
RASopathies are a group of genetic disorders that are caused by genes that affect the canonical Ras/mitogen-activated protein kinase (MAPK) signaling pathway. Despite tremendous progress in understanding the molecular consequences of these genetic an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66770a599b697c0d77d007bd425f8e74
https://escholarship.org/uc/item/44s997fh
https://escholarship.org/uc/item/44s997fh
Autor:
Brad Angle, Rotem Ben-Shachar, Gabriel A. Lazarin, Allison L. Goetsch, Katherine Johansen Taber, Jeanine Schulze, Jodi D. Hoffman, Aishwarya Arjunan, Jennifer Tarpinian, Pilar L. Magoulas, Richard Dineen, Raul Torres, Holly Bellerose, Andrea M. Lewis, Jessica A Bucher, Robert Nathan Slotnick, Kelly Bontempo, Brittany N. Simpson
Publikováno v:
Prenatal Diagnosis
BackgroundSeverity is an important factor for inclusion of diseases on expanded carrier screening (ECS) panels. Here, we applied a validated algorithm that objectively classifies diseases into severity categories to 176 genes on a clinically availabl
Publikováno v:
J Pediatr Genet
The study aimed to assess baseline stress and coping mechanisms among caregivers of children with RASopathies (i.e., cardiofaciocutaneous and Costello's syndrome) and the impact of attending biennial caregiver conferences. Caregivers completed the Pe
Autor:
Salma Nassef, Chris M. Holder, Sarah Huguenard, Sandra Darilek, Kim C. Worley, Amy M. Wallis, Chad A. Shaw, Seema R. Lalani, Brendan Lee, Pilar L. Magoulas, Daniel L. Riconda
Changes in genetics and genomics sequencing in recent years have created increased demand for genetics professionals, including clinical geneticists and genetic counselors. A significant workforce shortage of these professionals has become widely rec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cea8b7c036e9709b54915a4520ddec9e
https://doi.org/10.1101/2021.01.20.21249267
https://doi.org/10.1101/2021.01.20.21249267
Autor:
James D. Weisfeld-Adams, Sandra Heck, Margaret Harr, Jennifer E. Posey, James R. Lupski, Yazmin Enchautegui Colon, Bertrand Isidor, Pengfei Liu, Maciej Bagłaj, Austin Larson, Katherine B. Bosanko, Bert Callewaert, Nurit Assia Batzir, Maria Linda Rocha, Ashley Cannon, Michael F. Wangler, Leon Bofferding, Kimberly Nugent, Katerina Wells, Michael B. Petersen, Robert Smigiel, Skander Bouassida, Elizabeth Roeder, Arthur L. Beaudet, Helen Mar Fan, Pilar L. Magoulas, Ian Tully, Ronit Marom, Marjan M. Nezarati, Scott D. McLean, Shalini N. Jhangiani, Pranjali K Bhagwat, Anna C.E. Hurst, Adolfo D. Garnica, Zeynep Coban Akdemir, Rebecca O. Littlejohn
Publikováno v:
Assia Batzir, N, Kishor Bhagwat, P, Larson, A, Coban Akdemir, Z, Bagłaj, M, Bofferding, L, Bosanko, K B, Bouassida, S, Callewaert, B, Cannon, A, Enchautegui Colon, Y, Garnica, A D, Harr, M H, Heck, S, Hurst, A C, Jhangiani, S N, Isidor, B, Littlejohn, R O, Liu, P, Magoulas, P, Mar Fan, H, Marom, R, McLean, S, Nezarati, M M, Nugent, K M, Petersen, M B, Linda Rocha, M, Roeder, E, Smigiel, R, Tully, I, Weisfeld-Adams, J, Wells, K O, Genomics, B-H C F M, Posey, J E, Lupski, J R, Beaudet, A L & Wangler, M F 2020, ' Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy ', Human Mutation, vol. 41, no. 3, pp. 641-654 . https://doi.org/10.1002/humu.23960
Hum Mutat
Hum Mutat
Visceral myopathy with abnormal intestinal and bladder peristalsis includes a clinical spectrum with megacystis-microcolon intestinal hypoperistalsis syndrome and chronic intestinal pseudo-obstruction. The vast majority of cases are caused by dominan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3695b9b9e2c87a8c137957bd49c427ef
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8
Publikováno v:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 178:5-9
By enabling precise genetic diagnosis and treatment there is great potential for inexpensive, accurate, and widely accessible genomic information to transform health care and improve the general well-being of virtually every person. To maximize this
Autor:
V. Reid Sutton, Fan Xia, Jonathan A. Bernstein, Jill A. Rosenfeld, Donna M. Muzny, Christian P. Schaaf, Francesco Vetrini, Pedro Mancias, Luis F. Escobar, Chad A. Shaw, Marvin R. Natowicz, Deanna J. Erwin, Richard A. Gibbs, Linyan Meng, Alicia Braxton, Karen W. Gripp, Seema R. Lalani, James R. Lupski, Patricia A. Ward, Jennifer E. Posey, Haley Streff, Charul Gijavanekar, Yasemen Eroglu, Andrea M. Lewis, Jie Dong, Arthur L. Beaudet, Hilary J. Vernon, Christine M. Eng, Hongzheng Dai, Pilar L. Magoulas, Weimin Bi, La Keesha Minor, Fernando Scaglia, Andrew R. Ghazi, Yaping Yang, Elizabeth A. Normand, Nan Wu, Theodore Chiang, Xiaofei Song, Mary Kay Koenig, Soledad Kleppe, Weimin He, Hanyin Cheng, Crescenda L. Uhles, Paul J. Benke, Rui Xiao, Elaine H. Zackai, James B. Gibson, Tanya N. Eble, Bo Yuan, Pengfei Liu, Xia Wang
Publikováno v:
N Engl J Med
Reanalysis of Clinical Exome Data and Diagnostic Yield As knowledge about genetic causes of disease improves, periodic reanalysis of clinical exome sequence could yield new genetic information. Thi...