Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Alicia B, Byrne"'
Autor:
Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
Abstract Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that
Externí odkaz:
https://doaj.org/article/0e4cc75ac4f7488c9bc12cc444e98502
Autor:
Samantha M. Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth E. Blue, Lisa H. Chadwick, Zeynep H. Coban-Akdemir, Kimberly F. Doheny, Colleen P. Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell-Luria, Marcia Adams, François Aguet, Gulsen Akay, Peter Anderson, Corina Antonescu, Harindra M. Arachchi, Mehmed M. Atik, Christina A. Austin-Tse, Larry Babb, Tamara J. Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilguvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel Calame, Ian M. Campbell, Xiaolong Cao, Claudia Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Ivan K. Chinn, Declan Clarke, Ryan L. Collins, Beryl Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie P. DiTroia, Harshavardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid Fatih, Adam Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay S. Ganesh, Kiran V. Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga-Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif O. Harmanci, Isabella Herman, Kurt Hetrick, Hadia Hijazi, Martha Horike-Pyne, Elvin Hsu, Jianhong Hu, Yongqing Huang, Jameson R. Hurless, Steve Jahl, Gail P. Jarvik, Yunyun Jiang, Eric Johanson, Angad Jolly, Ender Karaca, Michael Khayat, James Knight, J. Thomas Kolar, Sushant Kumar, Seema Lalani, Kristen M. Laricchia, Kathryn E. Larkin, Suzanne M. Leal, Gabrielle Lemire, Richard A. Lewis, He Li, Hua Ling, Rachel B. Lipson, Pengfei Liu, Alysia Kern Lovgren, Francesc López-Giráldez, Melissa P. MacMillan, Brian E. Mangilog, Stacy Mano, Dana Marafi, Beth Marosy, Jamie L. Marshall, Renan Martin, Colby T. Marvin, Michelle Mawhinney, Sean McGee, Daniel J. McGoldrick, Michelle Mehaffey, Betselote Mekonnen, Xiaolu Meng, Tadahiro Mitani, Christina Y. Miyake, David Mohr, Shaine Morris, Thomas E. Mullen, David R. Murdock, Mullai Murugan, Donna M. Muzny, Ben Myers, Juanita Neira, Kevin K. Nguyen, Patrick M. Nielsen, Natalie Nudelman, Emily O’Heir, Melanie C. O’Leary, Chrissie Ongaco, Jordan Orange, Ikeoluwa A. Osei-Owusu, Ingrid S. Paine, Lynn S. Pais, Justin Paschall, Karynne Patterson, Davut Pehlivan, Benjamin Pelle, Samantha Penney, Jorge Perez de Acha Chavez, Emma Pierce-Hoffman, Cecilia M. Poli, Jaya Punetha, Aparna Radhakrishnan, Matthew A. Richardson, Eliete Rodrigues, Gwendolin T. Roote, Jill A. Rosenfeld, Erica L. Ryke, Aniko Sabo, Alice Sanchez, Isabelle Schrauwen, Daryl A. Scott, Fritz Sedlazeck, Jillian Serrano, Chad A. Shaw, Tameka Shelford, Kathryn M. Shively, Moriel Singer-Berk, Joshua D. Smith, Hana Snow, Grace Snyder, Matthew Solomonson, Rachel G. Son, Xiaofei Song, Pawel Stankiewicz, Taylorlyn Stephan, V. Reid Sutton, Abigail Sveden, Diana Cornejo Sánchez, Monica Tackett, Michael Talkowski, Machiko S. Threlkeld, Grace Tiao, Miriam S. Udler, Laura Vail, Zaheer Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo S. Wang, Gao Wang, Lu Wang, Michael F. Wangler, Nicholas A. Watts, Ben Weisburd, Jeffrey M. Weiss, Marsha M. Wheeler, Janson J. White, Clara E. Williamson, Michael W. Wilson, Wojciech Wiszniewski, Marjorie A. Withers, Dane Witmer, Lauren Witzgall, Elizabeth Wohler, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Nan Wu, Jinchuan Xing, Yaping Yang, Qian Yi, Bo Yuan, Jordan E. Zeiger, Chaofan Zhang, Peng Zhang, Yan Zhang, Xiaohong Zhang, Yeting Zhang, Shifa Zhang, Huda Zoghbi, Igna van den Veyver
Publikováno v:
Genet Med
PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b797c7738329d28c572a5aa99b98ff15
https://doi.org/10.1016/j.gim.2021.12.005
https://doi.org/10.1016/j.gim.2021.12.005
Autor:
Logan C. Walker, Miguel de la Hoya, George A.R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T Parsons, Daffodil M Canson, Dana Bis-Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B Byrne, Tina Pesaran, Rachid Karam, Steven Harrison, Amanda B Spurdle
Publikováno v:
medRxiv
The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) framework for classifying variants uses six evidence categories related to the splicing potential of variants: PVS1 (null variant in a gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1284c302fbe39e32460ed49914de2ed3
https://europepmc.org/articles/PMC9980257/
https://europepmc.org/articles/PMC9980257/
Autor:
Stephen J. Guter, Laurie A. Demmer, Jasmine Lf Fung, Gerarda Cappuccio, Naomichi Matsumoto, Nicola Brunetti-Pierri, Catherine Sarret, Hamish S. Scott, Lynn Pais, Alison Yeung, Ken Saida, Christopher P. Barnett, Felix Boschann, Andre Heinen, Noriko Miyake, Jenny C. Taylor, Jonathan Gadian, Cyril Mignot, Boris Keren, Sandra Whalen, Hagar Mor-Shaked, Matteo P. Ferla, John Christodoulou, Raffaele Iorio, Alistair T. Pagnamenta, Tiong Yang Tan, Brian Hy Chung, Marcus Cy Chan, Susan M. White, Ruth Sheffer, Dana Mittag, Edwin H. Cook, Jens Schallner, Alicia B. Byrne, Rachel Stapleton, Natalie B Tan, Alison Kraus, Fabiola Di Dato
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
Journal of Medical Genetics, 2021, 1, pp.107462. ⟨10.1136/jmedgenet-2020-107462⟩
PurposeBinding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. A de novo missense variant in GNB2 was recently rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb6b766cc9419af7689f1a0e5ddf2db6
https://doi.org/10.1136/jmedgenet-2020-107462
https://doi.org/10.1136/jmedgenet-2020-107462
Autor:
Alicia B, Byrne, Pascal, Brouillard, Drew L, Sutton, Jan, Kazenwadel, Saba, Montazaribarforoushi, Genevieve A, Secker, Anna, Oszmiana, Milena, Babic, Kelly L, Betterman, Peter J, Brautigan, Melissa, White, Sandra G, Piltz, Paul Q, Thomas, Christopher N, Hahn, Matthias, Rath, Ute, Felbor, G Christoph, Korenke, Christopher L, Smith, Kathleen H, Wood, Sarah E, Sheppard, Denise M, Adams, Ariana, Kariminejad, Raphael, Helaers, Laurence M, Boon, Nicole, Revencu, Lynette, Moore, Christopher, Barnett, Eric, Haan, Peer, Arts, Miikka, Vikkula, Hamish S, Scott, Natasha L, Harvey
Publikováno v:
Science translational medicine. 14(634)
Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d4178329aba45f643084d569782c198
https://pubmed.ncbi.nlm.nih.gov/35235341
https://pubmed.ncbi.nlm.nih.gov/35235341
Autor:
Peer Arts, Paul Wang, Jessica Garland, Tristan Hardy, Milena Babic, Alicia B. Byrne, Sarah L King-Smith, Lynette Moore, Jinghua Feng, Andreas W. Schreiber, Thuong Ha, Nicholas Manton, Hamish S. Scott, April Crawford, Christopher P. Barnett
Publikováno v:
American Journal of Medical Genetics Part A. 182:1273-1277
Autosomal dominant (de novo) mutations in PBX1 are known to cause congenital abnormalities of the kidney and urinary tract (CAKUT), with or without extra-renal abnormalities. Using trio exome sequencing, we identified a PBX1 p.(Arg107Trp) mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ce9172ac4b8846fd7a59fba923d085dc
https://doi.org/10.1002/ajmg.a.61541
https://doi.org/10.1002/ajmg.a.61541
Autor:
Alicia B. Byrne, Pascal Brouillard, Drew L. Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A. Secker, Anna Oszmiana, Milena Babic, Kelly L. Betterman, Peter J. Brautigan, Melissa White, Sandra G. Piltz, Paul Q. Thomas, Christopher N. Hahn, Matthias Rath, Ute Felbor, G. Christoph Korenke, Christopher L. Smith, Kathleen H. Wood, Sarah E. Sheppard, Denise M. Adams, Ariana Kariminejad, Raphael Helaers, Laurence M. Boon, Nicole Revencu, Lynette Moore, Christopher Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S. Scott, Natasha L. Harvey
Publikováno v:
Science Translational Medicine, Vol. 14, no. 634 (2022) (2022)
Central conducting lymphatic anomaly (CCLA), characterized by the dysfunction of core collecting lymphatic vessels including the thoracic duct and cisterna chyli, and presenting as chylothorax, pleural effusions, chylous ascites, and lymphedema, is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5954867de8c3ef147a7cbf3815f11d
https://hdl.handle.net/2078.1/260107
https://hdl.handle.net/2078.1/260107
Autor:
Paul Wang, Hamish S. Scott, Sarah L King-Smith, Jinghua Feng, Quenten Schwarz, Ajay Taranath, Carla De Angelis, Nicholas Manton, Rebecca Morrow, Andreas W. Schreiber, Milena Babic, Christopher Barnett, Peer Arts, Thuong Ha, Alicia B. Byrne
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-7 (2021)
BMC Medical Genomics
BMC Medical Genomics
Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons. The cause of posteriorly placed PNH is not well characterised and we present a case that provides
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121faf33c5f20f460dc8c52abd275dbc
https://hdl.handle.net/11541.2/147089
https://hdl.handle.net/11541.2/147089
Autor:
Natalie B, Tan, Alistair T, Pagnamenta, Matteo P, Ferla, Jonathan, Gadian, Brian Hy, Chung, Marcus Cy, Chan, Jasmine Lf, Fung, Edwin, Cook, Stephen, Guter, Felix, Boschann, Andre, Heinen, Jens, Schallner, Cyril, Mignot, Boris, Keren, Sandra, Whalen, Catherine, Sarret, Dana, Mittag, Laurie, Demmer, Rachel, Stapleton, Ken, Saida, Naomichi, Matsumoto, Noriko, Miyake, Ruth, Sheffer, Hagar, Mor-Shaked, Christopher P, Barnett, Alicia B, Byrne, Hamish S, Scott, Alison, Kraus, Gerarda, Cappuccio, Nicola, Brunetti-Pierri, Raffaele, Iorio, Fabiola, Di Dato, Lynn S, Pais, Alison, Yeung, Tiong Y, Tan, Jenny C, Taylor, John, Christodoulou, Susan M, White
Publikováno v:
Journal of medical genetics. 59(5)
Binding proteins (G-proteins) mediate signalling pathways involved in diverse cellular functions and comprise Gα and Gβγ units. Human diseases have been reported for all five Gβ proteins. AWe discovered aWe identified 12 unrelated individuals wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b55174e0b53490f5ca4673011d77f422
https://pubmed.ncbi.nlm.nih.gov/34183358
https://pubmed.ncbi.nlm.nih.gov/34183358
Autor:
Alicia B. Byrne, Laura Isacco, R. Sean Hill, Wojciech Wiszniewski, Kristin W. Barañano, A. James Barkovich, Anne O’Donnell, David G. Vossler, Julie S. Cohen, Christopher A. Walsh, Kirsty McWalter, Edward Stronge, Christopher J. Yuskaitis, Andrew Kodani, Mustafa Sahin, Dilenny M. Gonzalez, Gabrielle M. Sejourne, Edward Yang, Pawel Gawlinski, Jennifer N. Partlow, S. Ali Fatemi, Abbe Lai, Connor J. Kenny
Publikováno v:
Neuron
Genes mutated in human neuronal migration disorders encode tubulin proteins and a variety of tubulin-binding and -regulating proteins, but it is very poorly understood how these proteins function together to coordinate migration. Additionally, the wa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b762aa6ab6011c27bd4262d374ec7a9b
https://hdl.handle.net/11541.2/142192
https://hdl.handle.net/11541.2/142192