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1.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Qi, Cai; Feng, Irena; Costa, Ana Rita; Pinto-Costa, Rita; Neil, Jennifer E; Caluseriu, Oana; Li, Dong; Ganetzky, Rebecca D; Brasch-Andersen, Charlotte; Fagerberg, Christina; Hansen, Lars Kjærsgaard; Bupp, Caleb; Muraresku, Colleen Clarke; Ruan, Xiangbin; Kang, Bowei; Hu, Kaining; Zhong, Rong; Brites, Pedro; Bhoj, Elizabeth J; Hill, Robert Sean; Falk, Marni J; Hakonarson, Hakon; Kahle, Kristopher T; Sousa, Monica M; Walsh, Christopher A; Zhang, Xiaochang.

Genet Med; 24(2): 319-331, 2022 02.

Artículo en Inglés | MEDLINE | ID: mdl-34906466

2.

Somatic mutations in cerebral cortical malformations.

Jamuar, Saumya S; Lam, Anh-Thu N; Kircher, Martin; D'Gama, Alissa M; Wang, Jian; Barry, Brenda J; Zhang, Xiaochang; Hill, Robert Sean; Partlow, Jennifer N; Rozzo, Aldo; Servattalab, Sarah; Mehta, Bhaven K; Topcu, Meral; Amrom, Dina; Andermann, Eva; Dan, Bernard; Parrini, Elena; Guerrini, Renzo; Scheffer, Ingrid E; Berkovic, Samuel F; Leventer, Richard J; Shen, Yiping; Wu, Bai Lin; Barkovich, A James; Sahin, Mustafa; Chang, Bernard S; Bamshad, Michael; Nickerson, Deborah A; Shendure, Jay; Poduri, Annapurna; Yu, Timothy W; Walsh, Christopher A.

N Engl J Med; 371(8): 733-43, 2014 Aug 21.

Artículo en Inglés | MEDLINE | ID: mdl-25140959

3.

SLC25A22 is a novel gene for migrating partial seizures in infancy.

Poduri, Annapurna; Heinzen, Erin L; Chitsazzadeh, Vida; Lasorsa, Francesco Massimo; Elhosary, P Christina; LaCoursiere, Christopher M; Martin, Emilie; Yuskaitis, Christopher J; Hill, Robert Sean; Atabay, Kutay Deniz; Barry, Brenda; Partlow, Jennifer N; Bashiri, Fahad A; Zeidan, Radwan M; Elmalik, Salah A; Kabiraj, Mohammad M U; Kothare, Sanjeev; Stödberg, Tommy; McTague, Amy; Kurian, Manju A; Scheffer, Ingrid E; Barkovich, A James; Palmieri, Ferdinando; Salih, Mustafa A; Walsh, Christopher A.

Ann Neurol; 74(6): 873-82, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-24596948

4.

Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex.

Kim, Sonia Nan; Viswanadham, Vinayak V; Doan, Ryan N; Dou, Yanmei; Bizzotto, Sara; Khoshkhoo, Sattar; Huang, August Yue; Yeh, Rebecca; Chhouk, Brian; Truong, Alex; Chappell, Kathleen M; Beaudin, Marc; Barton, Alison; Akula, Shyam K; Rento, Lariza; Lodato, Michael; Ganz, Javier; Szeto, Ryan A; Li, Pengpeng; Tsai, Jessica W; Hill, Robert Sean; Park, Peter J; Walsh, Christopher A.

bioRxiv; 2023 Nov 06.

Artículo en Inglés | MEDLINE | ID: mdl-37986891

5.

Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.

Akula, Shyam K; Chen, Allen Y; Neil, Jennifer E; Shao, Diane D; Mo, Alisa; Hylton, Norma K; DiTroia, Stephanie; Ganesh, Vijay S; Smith, Richard S; O'Kane, Katherine; Yeh, Rebecca C; Marciano, Jack H; Kirkham, Samantha; Kenny, Connor J; Song, Janet H T; Al Saffar, Muna; Millan, Francisca; Harris, David J; Murphy, Andrea V; Klemp, Kara C; Braddock, Stephen R; Brand, Harrison; Wong, Isaac; Talkowski, Michael E; O'Donnell-Luria, Anne; Lai, Abbe; Hill, Robert Sean; Mochida, Ganeshwaran H; Doan, Ryan N; Barkovich, A James; Yang, Edward; Amrom, Dina; Andermann, Eva; Poduri, Annapurna; Walsh, Christopher A.

JAMA Neurol; 80(9): 980-988, 2023 09 01.

Artículo en Inglés | MEDLINE | ID: mdl-37486637

6.

Molecular insights into human brain evolution.

Hill, Robert Sean; Walsh, Christopher A.

Nature; 437(7055): 64-7, 2005 Sep 01.

Artículo en Inglés | MEDLINE | ID: mdl-16136130

7.

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Lim, Elaine T; Uddin, Mohammed; De Rubeis, Silvia; Chan, Yingleong; Kamumbu, Anne S; Zhang, Xiaochang; D'Gama, Alissa M; Kim, Sonia N; Hill, Robert Sean; Goldberg, Arthur P; Poultney, Christopher; Minshew, Nancy J; Kushima, Itaru; Aleksic, Branko; Ozaki, Norio; Parellada, Mara; Arango, Celso; Penzol, Maria J; Carracedo, Angel; Kolevzon, Alexander; Hultman, Christina M; Weiss, Lauren A; Fromer, Menachem; Chiocchetti, Andreas G; Freitag, Christine M; Church, George M; Scherer, Stephen W; Buxbaum, Joseph D; Walsh, Christopher A.

Nat Neurosci; 23(9): 1176, 2020 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-32665711

8.

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.

Lim, Elaine T; Uddin, Mohammed; De Rubeis, Silvia; Chan, Yingleong; Kamumbu, Anne S; Zhang, Xiaochang; D'Gama, Alissa M; Kim, Sonia N; Hill, Robert Sean; Goldberg, Arthur P; Poultney, Christopher; Minshew, Nancy J; Kushima, Itaru; Aleksic, Branko; Ozaki, Norio; Parellada, Mara; Arango, Celso; Penzol, Maria J; Carracedo, Angel; Kolevzon, Alexander; Hultman, Christina M; Weiss, Lauren A; Fromer, Menachem; Chiocchetti, Andreas G; Freitag, Christine M; Church, George M; Scherer, Stephen W; Buxbaum, Joseph D; Walsh, Christopher A.

Nat Neurosci; 20(9): 1217-1224, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-28714951

9.

Identifying autism loci and genes by tracing recent shared ancestry.

Morrow, Eric M; Yoo, Seung-Yun; Flavell, Steven W; Kim, Tae-Kyung; Lin, Yingxi; Hill, Robert Sean; Mukaddes, Nahit M; Balkhy, Soher; Gascon, Generoso; Hashmi, Asif; Al-Saad, Samira; Ware, Janice; Joseph, Robert M; Greenblatt, Rachel; Gleason, Danielle; Ertelt, Julia A; Apse, Kira A; Bodell, Adria; Partlow, Jennifer N; Barry, Brenda; Yao, Hui; Markianos, Kyriacos; Ferland, Russell J; Greenberg, Michael E; Walsh, Christopher A.

Science; 321(5886): 218-23, 2008 Jul 11.

Artículo en Inglés | MEDLINE | ID: mdl-18621663

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