Recessive gene disruptions in autism spectrum disorder
Doan, Ryan N., Lim, Elaine T., De Rubeis, Silvia, Betancur, Catalina, Cutler, David J., Chiocchetti, Andreas G., Overman, Lynne M., Soucy, Aubrie, Goetze, Susanne, Freitag, Christine M., Daly, Mark J., Walsh, Christopher A., Buxbaum, Joseph D., Yu, Timothy W.
Published in Nature genetics (01.07.2019)
Published in Nature genetics (01.07.2019)
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Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes
He, Xin, Sanders, Stephan J, Liu, Li, De Rubeis, Silvia, Lim, Elaine T, Sutcliffe, James S, Schellenberg, Gerard D, Gibbs, Richard A, Daly, Mark J, Buxbaum, Joseph D, State, Matthew W, Devlin, Bernie, Roeder, Kathryn
Published in PLoS genetics (01.08.2013)
Published in PLoS genetics (01.08.2013)
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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism
Chahrour, Maria H, Yu, Timothy W, Lim, Elaine T, Ataman, Bulent, Coulter, Michael E, Hill, R Sean, Stevens, Christine R, Schubert, Christian R, Greenberg, Michael E, Gabriel, Stacey B, Walsh, Christopher A
Published in PLoS genetics (01.04.2012)
Published in PLoS genetics (01.04.2012)
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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
Published in Nature neuroscience (01.09.2017)
Published in Nature neuroscience (01.09.2017)
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REST and Neural Gene Network Dysregulation in iPSC Models of Alzheimer’s Disease
Meyer, Katharina, Feldman, Heather M., Lu, Tao, Drake, Derek, Lim, Elaine T., Ling, King-Hwa, Bishop, Nicholas A., Pan, Ying, Seo, Jinsoo, Lin, Yuan-Ta, Su, Susan C., Church, George M., Tsai, Li-Huei, Yankner, Bruce A.
Published in Cell reports (Cambridge) (29.01.2019)
Published in Cell reports (Cambridge) (29.01.2019)
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Glycine Decarboxylase Activity Drives Non-Small Cell Lung Cancer Tumor-Initiating Cells and Tumorigenesis
Zhang, Wen Cai, Shyh-Chang, Ng, Yang, He, Rai, Amit, Umashankar, Shivshankar, Ma, Siming, Soh, Boon Seng, Sun, Li Li, Tai, Bee Choo, Nga, Min En, Bhakoo, Kishore Kumar, Jayapal, Senthil Raja, Nichane, Massimo, Yu, Qiang, Ahmed, Dokeu A., Tan, Christie, Sing, Wong Poo, Tam, John, Thirugananam, Agasthian, Noghabi, Monireh Soroush, Huei Pang, Yin, Ang, Haw Siang, Mitchell, Wayne, Robson, Paul, Kaldis, Philipp, Soo, Ross Andrew, Swarup, Sanjay, Lim, Elaine Hsuen, Lim, Bing
Published in Cell (20.01.2012)
Published in Cell (20.01.2012)
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Distribution and medical impact of loss-of-function variants in the Finnish founder population
Lim, Elaine T, Würtz, Peter, Havulinna, Aki S, Palta, Priit, Tukiainen, Taru, Rehnström, Karola, Esko, Tõnu, Mägi, Reedik, Inouye, Michael, Lappalainen, Tuuli, Chan, Yingleong, Salem, Rany M, Lek, Monkol, Flannick, Jason, Sim, Xueling, Manning, Alisa, Ladenvall, Claes, Bumpstead, Suzannah, Hämäläinen, Eija, Aalto, Kristiina, Maksimow, Mikael, Salmi, Marko, Blankenberg, Stefan, Ardissino, Diego, Shah, Svati, Horne, Benjamin, McPherson, Ruth, Hovingh, Gerald K, Reilly, Muredach P, Watkins, Hugh, Goel, Anuj, Farrall, Martin, Girelli, Domenico, Reiner, Alex P, Stitziel, Nathan O, Kathiresan, Sekar, Gabriel, Stacey, Barrett, Jeffrey C, Lehtimäki, Terho, Laakso, Markku, Groop, Leif, Kaprio, Jaakko, Perola, Markus, McCarthy, Mark I, Boehnke, Michael, Altshuler, David M, Lindgren, Cecilia M, Hirschhorn, Joel N, Metspalu, Andres, Freimer, Nelson B, Zeller, Tanja, Jalkanen, Sirpa, Koskinen, Seppo, Raitakari, Olli, Durbin, Richard, MacArthur, Daniel G, Salomaa, Veikko, Ripatti, Samuli, Daly, Mark J, Palotie, Aarno
Published in PLoS genetics (01.07.2014)
Published in PLoS genetics (01.07.2014)
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Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
Yu, Timothy W., Chahrour, Maria H., Coulter, Michael E., Jiralerspong, Sarn, Okamura-Ikeda, Kazuko, Ataman, Bulent, Schmitz-Abe, Klaus, Harmin, David A., Adli, Mazhar, Malik, Athar N., D’Gama, Alissa M., Lim, Elaine T., Sanders, Stephan J., Mochida, Ganesh H., Partlow, Jennifer N., Sunu, Christine M., Felie, Jillian M., Rodriguez, Jacqueline, Nasir, Ramzi H., Ware, Janice, Joseph, Robert M., Hill, R. Sean, Kwan, Benjamin Y., Al-Saffar, Muna, Mukaddes, Nahit M., Hashmi, Asif, Balkhy, Soher, Gascon, Generoso G., Hisama, Fuki M., LeClair, Elaine, Poduri, Annapurna, Oner, Ozgur, Al-Saad, Samira, Al-Awadi, Sadika A., Bastaki, Laila, Ben-Omran, Tawfeg, Teebi, Ahmad S., Al-Gazali, Lihadh, Eapen, Valsamma, Stevens, Christine R., Rappaport, Leonard, Gabriel, Stacey B., Markianos, Kyriacos, State, Matthew W., Greenberg, Michael E., Taniguchi, Hisaaki, Braverman, Nancy E., Morrow, Eric M., Walsh, Christopher A.
Published in Neuron (Cambridge, Mass.) (23.01.2013)
Published in Neuron (Cambridge, Mass.) (23.01.2013)
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FACS-Based Sequencing Approach to Evaluate Cell Type to Genotype Associations Using Cerebral Organoids
Murray, Liam, Olson, Meagan N, Barton, Nathaniel, Dawes, Pepper, Chan, Yingleong, Lim, Elaine T
Published in Methods in molecular biology (Clifton, N.J.) (2023)
Published in Methods in molecular biology (Clifton, N.J.) (2023)
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oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
Dawes, Pepper, Murray, Liam F., Olson, Meagan N., Barton, Nathaniel J., Smullen, Molly, Suresh, Madhusoodhanan, Yan, Guang, Zhang, Yucheng, Fernandez-Fontaine, Aria, English, Jay, Uddin, Mohammed, Pak, ChangHui, Church, George M., Chan, Yingleong, Lim, Elaine T.
Published in Human genetics (01.08.2023)
Published in Human genetics (01.08.2023)
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Genome-wide analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development
Chan, Yingleong, Salem, Rany M., H Hsu, Yu-Han, McMahon, George, Pers, Tune H., Vedantam, Sailaja, Esko, Tonu, Guo, Michael H., Lim, Elaine T., Franke, Lude, Smith, George Davey, Strachan, David P., Hirschhorn, Joel N.
Published in American journal of human genetics (07.05.2015)
Published in American journal of human genetics (07.05.2015)
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The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles
Coulter, Michael E., Dorobantu, Cristina M., Lodewijk, Gerrald A., Delalande, François, Cianferani, Sarah, Ganesh, Vijay S., Smith, Richard S., Lim, Elaine T., Xu, C. Shan, Pang, Song, Wong, Eric T., Lidov, Hart G.W., Calicchio, Monica L., Yang, Edward, Gonzalez, Dilenny M., Schlaeger, Thorsten M., Mochida, Ganeshwaran H., Hess, Harald, Lee, Wei-Chung Allen, Lehtinen, Maria K., Kirchhausen, Tomas, Haussler, David, Jacobs, Frank M.J., Gaudin, Raphael, Walsh, Christopher A.
Published in Cell reports (Cambridge) (24.07.2018)
Published in Cell reports (Cambridge) (24.07.2018)
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High Densities of Tumor-Associated Plasma Cells Predict Improved Prognosis in Triple Negative Breast Cancer
Yeong, Joe, Lim, Jeffrey Chun Tatt, Lee, Bernett, Li, Huihua, Chia, Noel, Ong, Clara Chong Hui, Lye, Weng Kit, Putti, Thomas Choudary, Dent, Rebecca, Lim, Elaine, Thike, Aye Aye, Tan, Puay Hoon, Iqbal, Jabed
Published in Frontiers in immunology (30.05.2018)
Published in Frontiers in immunology (30.05.2018)
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Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia
Funes, Salome, Jung, Jonathan, Gadd, Del Hayden, Mosqueda, Michelle, Zhong, Jianjun, Shankaracharya, Unger, Matthew, Stallworth, Karly, Cameron, Debra, Rotunno, Melissa S., Dawes, Pepper, Fowler-Magaw, Megan, Keagle, Pamela J., McDonough, Justin A., Boopathy, Sivakumar, Sena-Esteves, Miguel, Nickerson, Jeffrey A., Lutz, Cathleen, Skarnes, William C., Lim, Elaine T., Schafer, Dorothy P., Massi, Francesca, Landers, John E., Bosco, Daryl A.
Published in Nature communications (20.03.2024)
Published in Nature communications (20.03.2024)
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Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination
Margolin, David H, Kousi, Maria, Chan, Yee-Ming, Lim, Elaine T, Schmahmann, Jeremy D, Hadjivassiliou, Marios, Hall, Janet E, Adam, Ibrahim, Dwyer, Andrew, Plummer, Lacey, Aldrin, Stephanie V, O'Rourke, Julia, Kirby, Andrew, Lage, Kasper, Milunsky, Aubrey, Milunsky, Jeff M, Chan, Jennifer, Hedley-Whyte, E. Tessa, Daly, Mark J, Katsanis, Nicholas, Seminara, Stephanie B
Published in The New England journal of medicine (23.05.2013)
Published in The New England journal of medicine (23.05.2013)
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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
Staropoli, John F., Karaa, Amel, Lim, Elaine T., Kirby, Andrew, Elbalalesy, Naser, Romansky, Stephen G., Leydiker, Karen B., Coppel, Scott H., Barone, Rosemary, Xin, Winnie, MacDonald, Marcy E., Abdenur, Jose E., Daly, Mark J., Sims, Katherine B., Cotman, Susan L.
Published in American journal of human genetics (13.07.2012)
Published in American journal of human genetics (13.07.2012)
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