Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay
Kim, Myungjin, Sandford, Erin, Gatica, Damian, Qiu, Yu, Liu, Xu, Zheng, Yumei, Schulman, Brenda A, Xu, Jishu, Semple, Ian, Ro, Seung-Hyun, Kim, Boyoung, Mavioglu, R Nehir, Tolun, Aslıhan, Jipa, Andras, Takats, Szabolcs, Karpati, Manuela, Li, Jun Z, Yapici, Zuhal, Juhasz, Gabor, Lee, Jun Hee, Klionsky, Daniel J, Burmeister, Margit
Published in eLife (26.01.2016)
Published in eLife (26.01.2016)
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Journal Article
Prevalence and risk factors for depression among training physicians in China and the United States
Chen, Lihong, Zhao, Zhuo, Wang, Zhen, Zhou, Ying, Zhou, Xin, Pan, Hui, Shen, Fengtao, Zeng, Suhua, Shao, Xinhua, Frank, Elena, Sen, Srijan, Li, Weidong, Burmeister, Margit
Published in Scientific reports (17.05.2022)
Published in Scientific reports (17.05.2022)
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Journal Article
Genomic heterogeneity affects the response to Daylight Saving Time
Tyler, Jonathan, Fang, Yu, Goldstein, Cathy, Forger, Daniel, Sen, Srijan, Burmeister, Margit
Published in Scientific reports (20.07.2021)
Published in Scientific reports (20.07.2021)
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Journal Article
Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing
Yan, Huifang, Ji, Haoran, Kubisiak, Thomas, Wu, Ye, Xiao, Jiangxi, Gu, Qiang, Yang, Yanling, Xie, Han, Ji, Taoyun, Gao, Kai, Li, Dongxiao, Xiong, Hui, Shi, Zhen, Li, Ming, Zhang, Yuehua, Duan, Ruoyu, Bao, Xinhua, Jiang, Yuwu, Burmeister, Margit, Wang, Jingmin
Published in Journal of human genetics (01.08.2021)
Published in Journal of human genetics (01.08.2021)
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Journal Article
Meta-analysis of the association between a serotonin transporter promoter polymorphism (5-HTTLPR) and anxiety-related personality traits
Sen, Srijan, Burmeister, Margit, Ghosh, Debashis
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.05.2004)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (15.05.2004)
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Journal Article
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome
Drivas, Theodore G, Li, Dong, Nair, Divya, Alaimo, Joseph T, Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E Martina, Bertsch, Nicole L, Blackburn, Patrick R, Blesson, Alyssa, Bouman, Arjan M, Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M, Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E, Gunderson, Lauren B, Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W, Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L, Milunsky, Jeff M, Napier, Melanie P, Ortiz-Gonzalez, Xilma R, Pichurin, Pavel N, Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J, Renaud, Deborah L, Rush, Eric T, Saunders, Carol, Selcen, Duygu, Seman, Ann R, Shinde, Deepali N, Smith, Erica D, Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M, Tang, Sha, Tartaglia, Marco, Thompson, Michelle L, van de Kamp, Jiddeke M, Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H, Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
Published in European journal of human genetics : EJHG (01.10.2020)
Published in European journal of human genetics : EJHG (01.10.2020)
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Journal Article
Mental Health of Young Physicians in China During the Novel Coronavirus Disease 2019 Outbreak
Li, Weidong, Frank, Elena, Zhao, Zhuo, Chen, Lihong, Wang, Zhen, Burmeister, Margit, Sen, Srijan
Published in JAMA health forum (01.06.2020)
Published in JAMA health forum (01.06.2020)
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Journal Article
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder
Jia, Xiaoming, Goes, Fernando S., Locke, Adam E., Palmer, Duncan, Wang, Weiqing, Cohen-Woods, Sarah, Genovese, Giulio, Jackson, Anne U., Jiang, Chen, Kvale, Mark, Mullins, Niamh, Nguyen, Hoang, Pirooznia, Mehdi, Rivera, Margarita, Ruderfer, Douglas M., Shen, Ling, Thai, Khanh, Zawistowski, Matthew, Zhuang, Yongwen, Abecasis, Gonçalo, Akil, Huda, Bergen, Sarah, Burmeister, Margit, Chapman, Sinéad, DelaBastide, Melissa, Juréus, Anders, Kang, Hyun Min, Kwok, Pui-Yan, Li, Jun Z., Levy, Shawn E., Monson, Eric T., Moran, Jennifer, Sobell, Janet, Watson, Stanley, Willour, Virginia, Zöllner, Sebastian, Adolfsson, Rolf, Blackwood, Douglas, Boehnke, Michael, Breen, Gerome, Corvin, Aiden, Craddock, Nick, DiFlorio, Arianna, Hultman, Christina M., Landen, Mikael, Lewis, Cathryn, McCarroll, Steven A., Richard McCombie, W., McGuffin, Peter, McIntosh, Andrew, McQuillin, Andrew, Morris, Derek, Myers, Richard M., O’Donovan, Michael, Ophoff, Roel, Boks, Marco, Kahn, Rene, Ouwehand, Willem, Owen, Michael, Pato, Carlos, Pato, Michele, Posthuma, Danielle, Potash, James B., Reif, Andreas, Sklar, Pamela, Smoller, Jordan, Sullivan, Patrick F., Vincent, John, Walters, James, Neale, Benjamin, Purcell, Shaun, Risch, Neil, Schaefer, Catherine, Stahl, Eli A., Zandi, Peter P., Scott, Laura J.
Published in Molecular psychiatry (01.09.2021)
Published in Molecular psychiatry (01.09.2021)
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Journal Article
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
Sun, Miao, Johnson, Amy Knight, Nelakuditi, Viswateja, Guidugli, Lucia, Fischer, David, Arndt, Kelly, Ma, Lan, Sandford, Erin, Shakkottai, Vikram, Boycott, Kym, Chardon, Jodi Warman, Li, Zejuan, del Gaudio, Daniela, Burmeister, Margit, Gomez, Christopher M., Waggoner, Darrel J., Das, Soma
Published in Genetics in medicine (01.01.2019)
Published in Genetics in medicine (01.01.2019)
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Journal Article
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
Yan, Huifang, Helman, Guy, Murthy, Swetha E., Ji, Haoran, Crawford, Joanna, Kubisiak, Thomas, Bent, Stephen J., Xiao, Jiangxi, Taft, Ryan J., Coombs, Adam, Wu, Ye, Pop, Ana, Li, Dongxiao, de Vries, Linda S., Jiang, Yuwu, Salomons, Gajja S., van der Knaap, Marjo S., Patapoutian, Ardem, Simons, Cas, Burmeister, Margit, Wang, Jingmin, Wolf, Nicole I.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Pant, Devesh C, Dorboz, Imen, Schluter, Agatha, Fourcade, Stéphane, Launay, Nathalie, Joya, Javier, Aguilera-Albesa, Sergio, Yoldi, Maria Eugenia, Casasnovas, Carlos, Willis, Mary J, Ruiz, Montserrat, Ville, Dorothée, Lesca, Gaetan, Siquier-Pernet, Karine, Desguerre, Isabelle, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Brady, Lauren, Tarnopolsky, Mark, Cornet, Carles, Rubbini, Davide, Terriente, Javier, James, Kiely N, Musaev, Damir, Zaki, Maha S, Patterson, Marc C, Lanpher, Brendan C, Klee, Eric W, Pinto E Vairo, Filippo, Wohler, Elizabeth, Sobreira, Nara Lygia de M, Cohen, Julie S, Maroofian, Reza, Galehdari, Hamid, Mazaheri, Neda, Shariati, Gholamreza, Colleaux, Laurence, Rodriguez, Diana, Gleeson, Joseph G, Pujades, Cristina, Fatemi, Ali, Boespflug-Tanguy, Odile, Pujol, Aurora
Published in The Journal of clinical investigation (01.03.2019)
Published in The Journal of clinical investigation (01.03.2019)
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Journal Article
Genomic prediction of depression risk and resilience under stress
Fang, Yu, Scott, Laura, Song, Peter, Burmeister, Margit, Sen, Srijan
Published in Nature human behaviour (01.01.2020)
Published in Nature human behaviour (01.01.2020)
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Journal Article
Exome-wide association study of treatment-resistant depression suggests novel treatment targets
Shah, Shrey B., Peddada, Teja N., Song, Christopher, Mensah, Maame, Sung, Heejong, Yavi, Mani, Yuan, Peixiong, Zarate, Carlos A., Mickey, Brian J., Burmeister, Margit, Akula, Nirmala, McMahon, Francis J.
Published in Scientific reports (01.08.2023)
Published in Scientific reports (01.08.2023)
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Journal Article
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Vallianatos, Christina N, Farrehi, Clara, Friez, Michael J, Burmeister, Margit, Keegan, Catherine E, Iwase, Shigeki
Published in Frontiers in molecular neuroscience (04.04.2018)
Published in Frontiers in molecular neuroscience (04.04.2018)
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Journal Article
Tissue-specific functional networks for prioritizing phenotype and disease genes
Guan, Yuanfang, Gorenshteyn, Dmitriy, Burmeister, Margit, Wong, Aaron K, Schimenti, John C, Handel, Mary Ann, Bult, Carol J, Hibbs, Matthew A, Troyanskaya, Olga G
Published in PLoS computational biology (01.09.2012)
Published in PLoS computational biology (01.09.2012)
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Journal Article
Mutations in KCND3 cause spinocerebellar ataxia type 22
Lee, Yi-Chung, Durr, Alexandra, Majczenko, Karen, Huang, Yen-Hua, Liu, Yu-Chao, Lien, Cheng-Chang, Tsai, Pei-Chien, Ichikawa, Yaeko, Goto, Jun, Monin, Marie-Lorraine, Li, Jun Z., Chung, Ming-Yi, Mundwiller, Emeline, Shakkottai, Vikram, Liu, Tze-Tze, Tesson, Christelle, Lu, Yi-Chun, Brice, Alexis, Tsuji, Shoji, Burmeister, Margit, Stevanin, Giovanni, Soong, Bing-Wen
Published in Annals of neurology (01.12.2012)
Published in Annals of neurology (01.12.2012)
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