Antisense-mediated Exon Skipping Decreases Tau Protein Expression: A Potential Therapy For Tauopathies

by Reeteka Sud, Evan T Geller, Gerard D Schellenberg
Published 2014-01-01

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

by Roneil Malkani, Ian D'Souza, Katrina Gwinn-Hardy, Gerard D. Schellenberg, John Hardy, Parastoo Momeni
Published 2006-05-01

One for all and all for One: Improving replication of genetic studies through network diffusion.

by Daniel Lancour, Adam Naj, Richard Mayeux, Jonathan L Haines, Margaret A Pericak-Vance, Gerard D Schellenberg, Mark Crovella, Lindsay A Farrer, Simon Kasif
Published 2018-04-01

The correlation of paraoxonase (PON1) activity with lipid and lipoprotein levels differs with vascular disease status

by Laura S. Rozek, Thomas S. Hatsukami, Rebecca J. Richter, Jane Ranchalis, Karen Nakayama, Laura A. McKinstry, David A. Gortner, Edward Boyko, Gerard D. Schellenberg, Clement E. Furlong, Gail P. Jarvik
Published 2005-09-01

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.

by Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum, Matthew W State, Bernie Devlin, Kathryn Roeder
Published 2013-01-01

Transmission of tauopathy strains is independent of their isoform composition

by Zhuohao He, Jennifer D. McBride, Hong Xu, Lakshmi Changolkar, Soo-jung Kim, Bin Zhang, Sneha Narasimhan, Garrett S. Gibbons, Jing L. Guo, Michael Kozak, Gerard D. Schellenberg, John Q. Trojanowski, Virginia M. -Y. Lee
Published 2020-01-01

TagSNP analyses of the PON gene cluster: effects on PON1 activity, LDL oxidative susceptibility, and vascular disease

by Christopher S. Carlson, Patrick J. Heagerty, Thomas S. Hatsukami, Rebecca J. Richter, Jane Ranchalis, Julieann Lewis, Tamara J. Bacus, Laura A. McKinstry, Gerard D. Schellenberg, Mark Rieder, Deborah Nickerson, Clement E. Furlong, Alan Chait, Gail P. Jarvik
Published 2006-05-01

Fibrillation and molecular characteristics are coherent with clinical and pathological features of 4-repeat tauopathy caused by MAPT variant G273R

by Alexander Sandberg, Helen Ling, Marla Gearing, Beth Dombroski, Laura Cantwell, Lea R'Bibo, Allan Levey, Gerard D. Schellenberg, John Hardy, Nicholas Wood, Josefin Fernius, Sofie Nyström, Samuel Svensson, Stefan Thor, Per Hammarström, Tamas Revesz, Kin Y. Mok
Published 2020-12-01

Gene-Environment Interactions in Progressive Supranuclear Palsy

by Irene Litvan, James A. Proudfoot, Eden R. Martin, David Standaert, David Riley, Deborah Hall, Connie Marras, Ece Bayram, Richard M. Dubinsky, Yvette Bordelon, Stephen Reich, David Shprecher, David Shprecher, Benzi Kluger, Christopher Cunningham, Gerard D. Schellenberg, Joseph Jankovic
Published 2021-04-01

A common VLDLR polymorphism interacts with APOE genotype in the prediction of carotid artery disease risks⃞

by Dana C. Crawford, Alex S. Nord, Michael D. Badzioch, Jane Ranchalis, Laura A. McKinstry, Magdalena Ahearn, Caterina Bertucci, Cynthia Shephard, Michelle Wong, Mark J. Rieder, Gerard D. Schellenberg, Deborah A. Nickerson, Patrick J. Heagerty, Ellen M. Wijsman, Gail P. Jarvik
Published 2008-03-01

A novel scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism

by Jérôme eCarayol, Gerard D Schellenberg, Beth eDombroski, Claire eAmiet, Claire eAmiet, Bérengère eGénin, Karine eFontaine, Francis eRousseau, Céline eVazart, David eCohen, Thomas W Frazier, Antonio Y Hardan, Geraldine eDawson, Thomas eRio Frio
Published 2014-02-01

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci

by Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook, Daniel J. Serie, Michael G. Heckman, NiCole A. Finch, Richard J. Caselli, Ryan J. Uitti, Zbigniew K. Wszolek, Neill Graff-Radford, Leonard Petrucelli, Li-San Wang, Gerard D. Schellenberg, Dennis W. Dickson, Rosa Rademakers, Owen A. Ross
Published 2018-07-01

Caspase-8, association with Alzheimer's Disease and functional analysis of rare variants.

by Jan Rehker, Johanna Rodhe, Ryan R Nesbitt, Evan A Boyle, Beth K Martin, Jenny Lord, Ilker Karaca, Adam Naj, Frank Jessen, Seppo Helisalmi, Hilkka Soininen, Mikko Hiltunen, Alfredo Ramirez, Martin Scherer, Lindsay A Farrer, Jonathan L Haines, Margaret A Pericak-Vance, Wendy H Raskind, Carlos Cruchaga, Gerard D Schellenberg, Bertrand Joseph, Zoran Brkanac
Published 2017-01-01

Ancestral origin of ApoE ε4 Alzheimer disease risk in Puerto Rican and African American populations.

by Farid Rajabli, Briseida E Feliciano, Katrina Celis, Kara L Hamilton-Nelson, Patrice L Whitehead, Larry D Adams, Parker L Bussies, Clara P Manrique, Alejandra Rodriguez, Vanessa Rodriguez, Takiyah Starks, Grace E Byfield, Carolina B Sierra Lopez, Jacob L McCauley, Heriberto Acosta, Angel Chinea, Brian W Kunkle, Christiane Reitz, Lindsay A Farrer, Gerard D Schellenberg, Badri N Vardarajan, Jeffery M Vance, Michael L Cuccaro, Eden R Martin, Jonathan L Haines, Goldie S Byrd, Gary W Beecham, Margaret A Pericak-Vance
Published 2018-12-01

Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.

by Andrew McDavid, Paul K Crane, Katherine M Newton, David R Crosslin, Wayne McCormick, Noah Weston, Kelly Ehrlich, Eugene Hart, Robert Harrison, Walter A Kukull, Carla Rottscheit, Peggy Peissig, Elisha Stefanski, Catherine A McCarty, Rebecca Lynn Zuvich, Marylyn D Ritchie, Jonathan L Haines, Joshua C Denny, Gerard D Schellenberg, Mariza de Andrade, Iftikhar Kullo, Rongling Li, Daniel Mirel, Andrew Crenshaw, James D Bowen, Ge Li, Debby Tsuang, Susan McCurry, Linda Teri, Eric B Larson, Gail P Jarvik, Chris S Carlson
Published 2013-01-01

Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

by Iris Broce, Celeste M Karch, Natalie Wen, Chun C Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A Ross, Günter U Höglinger, Ulrich Muller, John Hardy, International FTD-Genomics Consortium, Parastoo Momeni, Christopher P Hess, William P Dillon, Zachary A Miller, Luke W Bonham, Gil D Rabinovici, Howard J Rosen, Gerard D Schellenberg, Andre Franke, Tom H Karlsen, Jan H Veldink, Raffaele Ferrari, Jennifer S Yokoyama, Bruce L Miller, Ole A Andreassen, Anders M Dale, Rahul S Desikan, Leo P Sugrue
Published 2018-01-01

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.

by Li Liu, Aniko Sabo, Benjamin M Neale, Uma Nagaswamy, Christine Stevens, Elaine Lim, Corneliu A Bodea, Donna Muzny, Jeffrey G Reid, Eric Banks, Hillary Coon, Mark Depristo, Huyen Dinh, Tim Fennel, Jason Flannick, Stacey Gabriel, Kiran Garimella, Shannon Gross, Alicia Hawes, Lora Lewis, Vladimir Makarov, Jared Maguire, Irene Newsham, Ryan Poplin, Stephan Ripke, Khalid Shakir, Kaitlin E Samocha, Yuanqing Wu, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Bernie Devlin, Gerard D Schellenberg, James S Sutcliffe, Mark J Daly, Richard A Gibbs, Kathryn Roeder
Published 2013-04-01

Correction: Immune-related genetic enrichment in frontotemporal dementia: An analysis of genome-wide association studies.

by Iris Broce, Celeste M Karch, Natalie Wen, Chun C Fan, Yunpeng Wang, Chin Hong Tan, Naomi Kouri, Owen A Ross, Günter U Höglinger, Ulrich Muller, John Hardy, International FTD-Genomics Consortium, Parastoo Momeni, Christopher P Hess, William P Dillon, Zachary A Miller, Luke W Bonham, Gil D Rabinovici, Howard J Rosen, Gerard D Schellenberg, Andre Franke, Tom H Karlsen, Jan H Veldink, Raffaele Ferrari, Jennifer S Yokoyama, Bruce L Miller, Ole A Andreassen, Anders M Dale, Rahul S Desikan, Leo P Sugrue
Published 2018-01-01

Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease.

by Emily Baker, Rebecca Sims, Ganna Leonenko, Aura Frizzati, Janet C Harwood, Detelina Grozeva, GERAD/PERADES, CHARGE, ADGC, EADI, IGAP consortia, Kevin Morgan, Peter Passmore, Clive Holmes, John Powell, Carol Brayne, Michael Gill, Simon Mead, Paola Bossù, Gianfranco Spalletta, Alison M Goate, Carlos Cruchaga, Wolfgang Maier, Reinhard Heun, Frank Jessen, Oliver Peters, Martin Dichgans, Lutz FröLich, Alfredo Ramirez, Lesley Jones, John Hardy, Dobril Ivanov, Matthew Hill, Peter Holmans, Nicholas D Allen, B Paul Morgan, Sudha Seshadri, Gerard D Schellenberg, Philippe Amouyel, Julie Williams, Valentina Escott-Price
Published 2019-01-01

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants.

by Fanggeng Zou, High Seng Chai, Curtis S Younkin, Mariet Allen, Julia Crook, V Shane Pankratz, Minerva M Carrasquillo, Christopher N Rowley, Asha A Nair, Sumit Middha, Sooraj Maharjan, Thuy Nguyen, Li Ma, Kimberly G Malphrus, Ryan Palusak, Sarah Lincoln, Gina Bisceglio, Constantin Georgescu, Naomi Kouri, Christopher P Kolbert, Jin Jen, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Lindsay A Farrer, Gerard D Schellenberg, Alzheimer's Disease Genetics Consortium, Ronald C Petersen, Neill R Graff-Radford, Dennis W Dickson, Steven G Younkin, Nilüfer Ertekin-Taner
Published 2012-01-01