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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.
Published in:
Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30968-3
By:
- 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.
Publication type:
Article
Transcriptomics‐based investigation of herpes simplex virus 1 infections and acyclovir treatment in human cerebral organoids.
Published in:
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2023, v. 19, p. 1, doi. 10.1002/alz.082321
By:
- Orszulak, Adrian R;
- Chigas, Samantha M;
- Tran, Khanh;
- Dawes, Pepper;
- Olson, Meagan N;
- Murray, Liam F;
- Barton, Nathaniel J;
- Aylward, Aimee J;
- Wang, Qi;
- Oh, HyungSuk;
- Church, George M;
- Young‐Pearse, Tracy;
- Knipe, David M;
- Readhead, Benjamin;
- Chan, Yingleong;
- Lim, Elaine T
Publication type:
Article
Editorial for the Neurogenetics and Neurogenomics special issue.
Published in:
2023
By:
- Lim, Elaine T.;
- Chan, Yingleong
Publication type:
Editorial
oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids.
Published in:
Human Genetics, 2023, v. 142, n. 8, p. 1281, doi. 10.1007/s00439-023-02534-4
By:
- 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.
Publication type:
Article
An unbiased index to quantify participant's phenotypic contribution to an open-access cohort.
Published in:
Scientific Reports, 2017, p. 46148, doi. 10.1038/srep46148
By:
- Chan, Yingleong;
- Tung, Michael;
- Garruss, Alexander S.;
- Zaranek, Sarah W.;
- Chan, Ying Kai;
- Lunshof, Jeantine E.;
- Zaranek, Alexander W.;
- Ball, Madeleine P.;
- Chou, Michael F.;
- Lim, Elaine T.;
- Church, George M.
Publication type:
Article
Expression of ALS-PFN1 impairs vesicular degradation in iPSC-derived microglia.
Published in:
Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-46695-w
By:
- 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.
Publication type:
Article
Whole exome sequencing uncovered highly penetrant recessive mutations for a spectrum of rare genetic pediatric diseases in Bangladesh.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00173-0
By:
- Akter, Hosneara;
- Hossain, Mohammad Shahnoor;
- Dity, Nushrat Jahan;
- Rahaman, Md. Atikur;
- Furkan Uddin, K. M.;
- Nassir, Nasna;
- Begum, Ghausia;
- Hameid, Reem Abdel;
- Islam, Muhammad Sougatul;
- Tusty, Tahrima Arman;
- Basiruzzaman, Mohammad;
- Sarkar, Shaoli;
- Islam, Mazharul;
- Jahan, Sharmin;
- Lim, Elaine T.;
- Woodbury-Smith, Marc;
- Stavropoulos, Dimitri James;
- O'Rielly, Darren D.;
- Berdeiv, Bakhrom K.;
- Nurun Nabi, A. H. M.
Publication type:
Article
No evidence for rare recessive and compound heterozygous disruptive variants in schizophrenia.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 4, p. 555, doi. 10.1038/ejhg.2014.228
By:
- Ruderfer, Douglas M;
- Lim, Elaine T;
- Genovese, Giulio;
- Moran, Jennifer L;
- Hultman, Christina M;
- Sullivan, Patrick F;
- McCarroll, Steven A;
- Holmans, Peter;
- Sklar, Pamela;
- Purcell, Shaun M
Publication type:
Article
A pharmacogenetic study implicates SLC9a9 in multiple sclerosis disease activity.
Published in:
Annals of Neurology, 2015, v. 78, n. 1, p. 115, doi. 10.1002/ana.24429
By:
- 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
Publication type:
Article
Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population.
Published in:
PLoS Genetics, 2014, v. 10, n. 7, p. 1, doi. 10.1371/journal.pgen.1004494
By:
- 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
Publication type:
Article
Integrated Model of <i>De Novo</i> and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes.
Published in:
PLoS Genetics, 2013, v. 9, n. 8, p. 1, doi. 10.1371/journal.pgen.1003671
By:
- 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
Publication type:
Article
Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism.
Published in:
PLoS Genetics, 2012, v. 8, n. 4, p. 1, doi. 10.1371/journal.pgen.1002635
By:
- 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.
Publication type:
Article
Engineering adeno-associated viral vectors to evade innate immune and inflammatory responses.
Published in:
Science Translational Medicine, 2021, v. 13, n. 580, p. 1, doi. 10.1126/scitranslmed.abd3438
By:
- Chan, Ying Kai;
- Wang, Sean K.;
- Chu, Colin J.;
- Copland, David A.;
- Letizia, Alexander J.;
- Costa Verdera, Helena;
- Chiang, Jessica J.;
- Sethi, Meher;
- Wang, May K.;
- Neidermyer, William J.;
- Chan, Yingleong;
- Lim, Elaine T.;
- Graveline, Amanda R.;
- Sanchez, Melinda;
- Boyd, Ryan F.;
- Vihtelic, Thomas S.;
- Inciong, Rolando Gian Carlo O.;
- Slain, Jared M.;
- Alphonse, Priscilla J.;
- Xue, Yunlu
Publication type:
Article
Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-48982-w
By:
- 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
Publication type:
Article
Modeling of mitochondrial genetic polymorphisms reveals induction of heteroplasmy by pleiotropic disease locus 10398A>G.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-37541-y
By:
- 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
Publication type:
Article
Enabling multiplexed testing of pooled donor cells through whole-genome sequencing.
Published in:
Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0541-6
By:
- Chan, Yingleong;
- Chan, Ying Kai;
- Goodman, Daniel B.;
- Guo, Xiaoge;
- Chavez, Alejandro;
- Lim, Elaine T.;
- Church, George M.
Publication type:
Article

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