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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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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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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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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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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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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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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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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Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder
Lim, Elaine T., Chan, Yingleong, Dawes, Pepper, Guo, Xiaoge, Erdin, Serkan, Tai, Derek J. C., Liu, Songlei, Reichert, Julia M., Burns, Mannix J., Chan, Ying Kai, Chiang, Jessica J., Meyer, Katharina, Zhang, Xiaochang, Walsh, Christopher A., Yankner, Bruce A., Raychaudhuri, Soumya, Hirschhorn, Joel N., Gusella, James F., Talkowski, Michael E., Church, George M.
Published in Nature communications (10.06.2022)
Published in Nature communications (10.06.2022)
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Journal Article
Germline Mutations Affecting Gα11 in Hypoparathyroidism
Mannstadt, Michael, Harris, Mark, Bravenboer, Bert, Chitturi, Sridhar, Dreijerink, Koen M.A, Lambright, David G, Lim, Elaine T, Daly, Mark J, Gabriel, Stacey, Jüppner, Harald
Published in The New England journal of medicine (27.06.2013)
Published in The New England journal of medicine (27.06.2013)
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Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population
Sarker, Shaoli, Eshaque, Tamannyat Binte, Soorajkumar, Anjana, Nassir, Nasna, Zehra, Binte, Kanta, Shayla Imam, Rahaman, Md Atikur, Islam, Amirul, Akter, Shimu, Ali, Mohammad Kawsar, Mim, Rabeya Akter, Uddin, K. M. Furkan, Chowdhury, Mohammod Shah Jahan, Shams, Nusrat, Baqui, Md. Abdul, Lim, Elaine T., Akter, Hosneara, Woodbury-Smith, Marc, Uddin, Mohammed
Published in Scientific reports (06.12.2023)
Published in Scientific reports (06.12.2023)
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Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G
Smullen, Molly, Olson, Meagan N., Murray, Liam F., Suresh, Madhusoodhanan, Yan, Guang, Dawes, Pepper, Barton, Nathaniel J., Mason, Jivanna N., Zhang, Yucheng, Fernandez-Fontaine, Aria A., Church, George M., Mastroeni, Diego, Wang, Qi, Lim, Elaine T., Chan, Yingleong, Readhead, Benjamin
Published in Scientific reports (27.06.2023)
Published in Scientific reports (27.06.2023)
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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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Journal Article
An Excess of Risk-Increasing Low-Frequency Variants Can Be a Signal of Polygenic Inheritance in Complex Diseases
Chan, Yingleong, Lim, Elaine T., Sandholm, Niina, Wang, Sophie R., McKnight, Amy Jayne, Ripke, Stephan, Daly, Mark J., Neale, Benjamin M., Salem, Rany M., Hirschhorn, Joel N.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Journal Article
A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity
Esposito, Federica, Sorosina, Melissa, Ottoboni, Linda, Lim, Elaine T., Replogle, Joseph M., Raj, Towfique, Brambilla, Paola, Liberatore, Giuseppe, Guaschino, Clara, Romeo, Marzia, Pertel, Thomas, Stankiewicz, James M., Martinelli, Vittorio, Rodegher, Mariaemma, Weiner, Howard L., Brassat, David, Benoist, Christophe, Patsopoulos, Nikolaos A., Comi, Giancarlo, Elyaman, Wassim, Martinelli Boneschi, Filippo, De Jager, Philip L.
Published in Annals of neurology (01.07.2015)
Published in Annals of neurology (01.07.2015)
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A Novel Test for Recessive Contributions to Complex Diseases Implicates Bardet-Biedl Syndrome Gene BBS10 in Idiopathic Type 2 Diabetes and Obesity
Lim, Elaine T., Liu, Yangfan P., Chan, Yingleong, Tiinamaija, Tuomi, Käräjämäki, AnnMari, Madsen, Erik, Altshuler, David M., Raychaudhuri, Soumya, Groop, Leif, Flannick, Jason, Hirschhorn, Joel N., Katsanis, Nicholas, Daly, Mark J.
Published in American journal of human genetics (06.11.2014)
Published in American journal of human genetics (06.11.2014)
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Enabling multiplexed testing of pooled donor cells through whole-genome sequencing
Chan, Yingleong, Chan, Ying Kai, Goodman, Daniel B, Guo, Xiaoge, Chavez, Alejandro, Lim, Elaine T, Church, George M
Published in Genome medicine (19.04.2018)
Published in Genome medicine (19.04.2018)
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Journal Article
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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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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