Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Robert Sean, Hill"'
Autor:
Rita Pinto-Costa, Kaining Hu, Xiangbin Ruan, Marni J. Falk, Christopher A. Walsh, Caleb Bupp, Christina Fagerberg, Charlotte Brasch-Andersen, Mónica Mendes Sousa, Lars Kjærsgaard Hansen, Pedro Brites, Cai Qi, Colleen Muraresku, Rebecca D. Ganetzky, Oana Caluseriu, Irena Feng, Dong Li, Rong Zhong, Robert Sean Hill, Jennifer E. Neil, Bowei Kang, Xiaochang Zhang, Ana Costa, Elizabeth J. Bhoj, Kristopher T. Kahle, Hakon Hakonarson
Publikováno v:
Qi, C, Feng, I, Costa, A R, Pinto-Costa, R, Neil, J E, Caluseriu, O, Li, D, Ganetzky, R D, Brasch-Andersen, C, Fagerberg, C, Hansen, L K, Bupp, C, Muraresku, C C, Ruan, X, Kang, B, Hu, K, Zhong, R, Brites, P, Bhoj, E J, Hill, R S, Falk, M J, Hakonarson, H, Kahle, K T, Sousa, M M, Walsh, C A & Zhang, X 2022, ' Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 2, pp. 319-331 . https://doi.org/10.1016/j.gim.2021.09.014
Genet Med
Genet Med
PURPOSE: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes, and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6b2c935fe6ca940ff920a6ec4f1391
https://doi.org/10.1016/j.gim.2021.09.014
https://doi.org/10.1016/j.gim.2021.09.014
Autor:
Nancy J. Minshew, Silvia De Rubeis, Christopher A. Walsh, Arthur P. Goldberg, Christine M. Freitag, Angel Carracedo, Robert Sean Hill, Andreas G. Chiocchetti, Yingleong Chan, Alissa M. D'Gama, Mara Parellada, Sonia N. Kim, Itaru Kushima, Mohammed Uddin, Branko Aleksic, Norio Ozaki, Lauren A. Weiss, Xiaochang Zhang, Elaine T. Lim, Christopher S. Poultney, Menachem Fromer, Celso Arango, Maria J Penzol, Christina M. Hultman, Anne S Kamumbu, Joseph D. Buxbaum, Alexander Kolevzon, George M. Church, Stephen W. Scherer
Publikováno v:
Nature Neuroscience. 23:1176-1176
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8cddf4e20c716849ad9965629f043d25
https://doi.org/10.1038/s41593-020-0681-z
https://doi.org/10.1038/s41593-020-0681-z
Autor:
Ganeshwaran H. Mochida, Andrew H. Crosby, Gilad D. Evrony, Christopher A. Walsh, S. Al-Turki, Barry A. Chioza, Robert Sean Hill, Aisha Al-Khayat, Ali Al-Memar, Matthew E. Hurles, M. A. Patton, Jennifer N. Partlow, Sarah Servattalab, Kyriacos Markianos, Anna Rajab, Mustafa Y. Ahmed, K. Schmitz-Abe, Emma L. Baple
Publikováno v:
Neurology. 84:1745-1750
Objective: To identify the genetic cause of pontocerebellar hypoplasia type III (PCH3). Methods: We studied the original reported pedigree of PCH3 and performed genetic analysis including genome-wide single nucleotide polymorphism genotyping, linkage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4922c2ed269eb5e947e87453ba6fa61b
https://doi.org/10.1212/wnl.0000000000001523
https://doi.org/10.1212/wnl.0000000000001523
Autor:
Timothy W. Yu, Jian Wang, Eva Andermann, Michael J. Bamshad, Bai-Lin Wu, Elena Parrini, Bernard Dan, Xiaochang Zhang, Dina Amrom, Jay Shendure, Samuel F. Berkovic, Aldo Rozzo, Annapurna Poduri, Yiping Shen, Bhaven K. Mehta, Bernard S. Chang, Robert Sean Hill, Renzo Guerrini, Meral Topçu, Deborah A. Nickerson, Martin Kircher, A. James Barkovich, Alissa M. D'Gama, Richard J. Leventer, Sarah Servattalab, Ingrid E. Scheffer, Brenda J. Barry, Mustafa Sahin, Jennifer N. Partlow, Saumya Shekhar Jamuar, Christopher A. Walsh, Anh Thu N. Lam
Publikováno v:
The New England journal of medicine, vol 371, iss 8
BACKGROUND Although there is increasing recognition of the role of somatic mutations in genetic disorders, the prevalence of somatic mutations in neurodevelopmental disease and the optimal techniques to detect somatic mosaicism have not been systemat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d19a359c20a3f3ec7c08cb1303017fbc
https://doi.org/10.1056/nejmoa1314432
https://doi.org/10.1056/nejmoa1314432
Autor:
Manju A. Kurian, Kutay Deniz Atabay, Jennifer N. Partlow, Emilie Martin, Christopher J. Yuskaitis, Francesco M. Lasorsa, Mustafa A. Salih, Sanjeev V. Kothare, Tommy Stödberg, Salah A. Elmalik, Fahad A. Bashiri, Mohammad M. Kabiraj, Erin L. Heinzen, Ferdinando Palmieri, Radwan M. Zeidan, Annapurna Poduri, Amy McTague, Christopher A. Walsh, P. Christina Elhosary, Robert Sean Hill, Brenda J. Barry, Ingrid E. Scheffer, Vida Chitsazzadeh, Christopher M. LaCoursiere, A. James Barkovich
Publikováno v:
Annals of Neurology. 74:873-882
Objective To identify a genetic cause for migrating partial seizures in infancy (MPSI). Methods We characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c17e0e458a9b034b510a54fb56faefd0
https://doi.org/10.1002/ana.23998
https://doi.org/10.1002/ana.23998
Autor:
Christopher A. Walsh, Hua Chen, Robert Sean Hill, David Reich, Andre A. Mignault, Alon Keinan, Russell J. Ferland, Fuli Yu
Publikováno v:
Human Molecular Genetics
Historical episodes of natural selection can skew the frequencies of genetic variants, leaving a signature that can persist for many tens or even hundreds of thousands of years. However, formal tests for selection based on allele frequency skew requi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcf0b5c8f24460d016ed1ed3e86f5d2
http://europepmc.org/articles/PMC2778377
http://europepmc.org/articles/PMC2778377
Autor:
Brenda E. Barry, Tae Kyung Kim, Kyriacos Markianos, Robert Sean Hill, Jennifer N. Partlow, Russell J. Ferland, Hui Yao, Samira Al-Saad, Danielle Gleason, Rachel Greenblatt, Julia A. Ertelt, Robert M. Joseph, Kira Apse, Adria Bodell, Christopher A. Walsh, Steven W. Flavell, Yingxi Lin, Michael E. Greenberg, Janice Ware, Generoso G. Gascon, Soher Balkhy, Nahit Motavalli Mukaddes, Seung-Yun Yoo, Asif Hashmi, Eric M. Morrow
Publikováno v:
Science. 321:218-223
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215f776dba41bee06b56c80ca3c927d3
https://doi.org/10.1126/science.1157657
https://doi.org/10.1126/science.1157657
Autor:
Rebecca D. Folkerth, Alison H. Banham, Jason Neal, Joseph C. Corbo, Christopher A. Walsh, Robert Sean Hill, Phillip G. Brown, Jonathan L. Hecht, Volney L. Sheen, Russell J. Ferland, Megan Harney, Anjen Chenn
Publikováno v:
Acta Neuropathologica. 111:489-496
Miller Dieker syndrome (MDS, type I lissencephaly) is a neuronal migration disorder, which is caused by deletions along the short arm of chromosome 17 (17p13.3). Recent studies would suggest that the cortical lamination in MDS is inverted, based on m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8b719175779eef5d72b5439ce46e47f
https://doi.org/10.1007/s00401-005-0010-3
https://doi.org/10.1007/s00401-005-0010-3
Autor:
Annapurna, Poduri, Erin L, Heinzen, Vida, Chitsazzadeh, Francesco Massimo, Lasorsa, P Christina, Elhosary, Christopher M, LaCoursiere, Emilie, Martin, Christopher J, Yuskaitis, Robert Sean, Hill, Kutay Deniz, Atabay, Brenda, Barry, Jennifer N, Partlow, Fahad A, Bashiri, Radwan M, Zeidan, Salah A, Elmalik, Mohammad M U, Kabiraj, Sanjeev, Kothare, Tommy, Stödberg, Amy, McTague, Manju A, Kurian, Ingrid E, Scheffer, A James, Barkovich, Ferdinando, Palmieri, Mustafa A, Salih, Christopher A, Walsh
Publikováno v:
Annals of neurology, vol 74, iss 6
ObjectiveTo identify a genetic cause for migrating partial seizures in infancy (MPSI).MethodsWe characterized a consanguineous pedigree with MPSI and obtained DNA from affected and unaffected family members. We analyzed single nucleotide polymorphism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f41271935478b87260842545488f12f8
https://escholarship.org/uc/item/9wx1d0z8
https://escholarship.org/uc/item/9wx1d0z8
Autor:
Ruth Ottman, Christopher A. Walsh, S. Barral-Rodriguez, A. Ulgen, Annapurna Poduri, Yuanbai Wang, W. A. Hauser, Timothy A. Pedley, Robert Sean Hill, Neil Risch, D. Gordon, Vida Chitsazzadeh, Christie Barker-Cummings
Publikováno v:
Neurology. 73(16)
Background: Genetic epilepsy with febrile seizures plus (GEFS) is a familial epilepsy syndrome with extremely variable expressivity. Mutations in 5 genes that raise susceptibility to GEFS have been discovered, but they account for only a small propor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0b506d18ed12994c00fd5ce74526fb3
https://pubmed.ncbi.nlm.nih.gov/19841378
https://pubmed.ncbi.nlm.nih.gov/19841378