The Genetics of Reading Disabilities: From Phenotypes to Candidate Genes

por Raskind, Wendy H., Peter, Beate, Richards, Todd, Eckert, Mark M., Berninger, Virginia W.
Publicado 2013

Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study

por Abbott, Robert D., Raskind, Wendy H., Matsushita, Mark, Price, Nathan D., Richards, Todd, Berninger, Virginia W.
Publicado 2017

A data-fusion approach to identifying developmental dyslexia from multi-omics datasets

por Carrion, Jackson, Nandakumar, Rohit, Shi, Xiaojian, Gu, Haiwei, Kim, Yookyung, Raskind, Wendy H., Peter, Beate, Dinu, Valentin
Publicado 2023

Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample

por Peter, Beate, Raskind, Wendy H., Matsushita, Mark, Lisowski, Mark, Vu, Tiffany, Berninger, Virginia W., Wijsman, Ellen M., Brkanac, Zoran
Publicado 2010

The Effect of Algorithms on Copy Number Variant Detection

por Tsuang, Debby W., Millard, Steven P., Ely, Benjamin, Chi, Peter, Wang, Kenneth, Raskind, Wendy H., Kim, Sulgi, Brkanac, Zoran, Yu, Chang-En
Publicado 2010

Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene

por Patowary, Ashok, Won, So Yeon, Oh, Shin Ji, Nesbitt, Ryan R, Archer, Marilyn, Nickerson, Debbie, Raskind, Wendy H., Bernier, Raphael, Lee, Ji Eun, Brkanac, Zoran
Publicado 2019

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech

por Peter, Beate, Wijsman, Ellen M., Nato, Alejandro Q., Matsushita, Mark M., Chapman, Kathy L., Stanaway, Ian B., Wolff, John, Oda, Kaori, Gabo, Virginia B., Raskind, Wendy H.
Publicado 2016

Triggering Receptor Expressed on Myeloid Cell 2 R47H Exacerbates Immune Response in Alzheimer’s Disease Brain

por Korvatska, Olena, Kiianitsa, Kostantin, Ratushny, Alexander, Matsushita, Mark, Beeman, Neal, Chien, Wei-Ming, Satoh, Jun-Ichi, Dorschner, Michael O., Keene, C. Dirk, Bammler, Theo K., Bird, Thomas D., Raskind, Wendy H.
Publicado 2020

Heterozygous STUB1 missense variants cause ataxia, cognitive decline, and STUB1 mislocalization

por Chen, Dong-Hui, Latimer, Caitlin, Yagi, Mayumi, Ndugga-Kabuye, Mesaki Kenneth, Heigham, Elyana, Jayadev, Suman, Meabon, James S., Gomez, Christopher M., Keene, C. Dirk, Cook, David G., Raskind, Wendy H., Bird, Thomas D.
Publicado 2020

Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes

por Girirajan, Santhosh, Brkanac, Zoran, Coe, Bradley P., Baker, Carl, Vives, Laura, Vu, Tiffany H., Shafer, Neil, Bernier, Raphael, Ferrero, Giovanni B., Silengo, Margherita, Warren, Stephen T., Moreno, Carlos S., Fichera, Marco, Romano, Corrado, Raskind, Wendy H., Eichler, Evan E.
Publicado 2011

Integrative analysis of RUNX1 downstream pathways and target genes

por Michaud, Joëlle, Simpson, Ken M, Escher, Robert, Buchet-Poyau, Karine, Beissbarth, Tim, Carmichael, Catherine, Ritchie, Matthew E, Schütz, Frédéric, Cannon, Ping, Liu, Marjorie, Shen, Xiaofeng, Ito, Yoshiaki, Raskind, Wendy H, Horwitz, Marshall S, Osato, Motomi, Turner, David R, Speed, Terence P, Kavallaris, Maria, Smyth, Gordon K, Scott, Hamish S
Publicado 2008

Evidence for Involvement of GNB1L in Autism

por Chen, Ying-Zhang, Matsushita, Mark, Girirajan, Santhosh, Lisowski, Mark, Sun, Elizabeth, Sul, Youngmee, Bernier, Raphael, Estes, Annette, Dawson, Geraldine, Minshew, Nancy, Shellenberg, Gerard D, Eichler, Evan E, Rieder, Mark J, Nickerson, Deborah A, Tsuang, Debby W, Tsuang, Ming T, Wijsman, Ellen M, Raskind, Wendy H, Brkanac, Zoran
Publicado 2012

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

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

Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation

por Filipello, Fabia, You, Shih-Feng, Mirfakhar, Farzaneh S., Mahali, Sidhartha, Bollman, Bryan, Acquarone, Mariana, Korvatska, Olena, Marsh, Jacob A., Sivaraman, Anirudh, Martinez, Rita, Cantoni, Claudia, De Feo, Luca, Ghezzi, Laura, Minaya, Miguel A., Renganathan, Arun, Cashikar, Anil G., Satoh, Jun-Ichi, Beatty, Wandy, Iyer, Abhirami K., Cella, Marina, Raskind, Wendy H., Piccio, Laura, Karch, Celeste M.
Publicado 2023

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado 2017

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

por Pujol‐Giménez, Jonai, Mirzaa, Ghayda, Blue, Elizabeth E., Albano, Giuseppe, Miller, Danny E., Allworth, Aimee, Bennett, James T., Byers, Peter H., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Gillentine, Madelyn A., Glass, Ian, Hing, Anne, Horike‐Pyne, Martha, Leppig, Kathleen A., Parhin, Azma, Ranchalis, Jane, Raskind, Wendy H., Rosenthal, Elisabeth A., Schwarze, Ulrike, Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Timms, Andrew, Wener, Mark, Bamshad, Michael J., Hisama, Fuki M., Jarvik, Gail P., Dipple, Katrina M., Hediger, Matthias A., Stergachis, Andrew B.
Publicado 2023

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

por Stergachis, Andrew B., Blue, Elizabeth E., Gillentine, Madelyn A., Wang, Lee-Kai, Schwarze, Ulrike, Cortés, Adriana Sedeño, Ranchalis, Jane, Allworth, Aimee, Bland, Austin E., Chanprasert, Sirisak, Chen, Jingheng, Doherty, Daniel, Folta, Andrew B., Glass, Ian, Horike-Pyne, Martha, Huang, Alden Y., Khan, Alyna T., Leppig, Kathleen A., Miller, Danny E., Mirzaa, Ghayda, Parhin, Azma, Raskind, Wendy H., Rosenthal, Elisabeth A., Sheppeard, Sam, Strohbehn, Samuel, Sybert, Virginia P., Tran, Thao T., Wener, Mark H., Byers, Peter H. H., Nelson, Stanley F., Bamshad, Michael J., Dipple, Katrina M., Jarvik, Gail P., Hoppins, Suzanne, Hisama, Fuki M.
Publicado 2023

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

por Amendola, Laura M., Dorschner, Michael O., Robertson, Peggy D., Salama, Joseph S., Hart, Ragan, Shirts, Brian H., Murray, Mitzi L., Tokita, Mari J., Gallego, Carlos J., Kim, Daniel Seung, Bennett, James T., Crosslin, David R., Ranchalis, Jane, Jones, Kelly L., Rosenthal, Elisabeth A., Jarvik, Ella R., Itsara, Andy, Turner, Emily H., Herman, Daniel S., Schleit, Jennifer, Burt, Amber, Jamal, Seema M., Abrudan, Jenica L., Johnson, Andrew D., Conlin, Laura K., Dulik, Matthew C., Santani, Avni, Metterville, Danielle R., Kelly, Melissa, Foreman, Ann Katherine M., Lee, Kristy, Taylor, Kent D., Guo, Xiuqing, Crooks, Kristy, Kiedrowski, Lesli A., Raffel, Leslie J., Gordon, Ora, Machini, Kalotina, Desnick, Robert J., Biesecker, Leslie G., Lubitz, Steven A., Mulchandani, Surabhi, Cooper, Greg M., Joffe, Steven, Richards, C. Sue, Yang, Yaoping, Rotter, Jerome I., Rich, Stephen S., O’Donnell, Christopher J., Berg, Jonathan S., Spinner, Nancy B., Evans, James P., Fullerton, Stephanie M., Leppig, Kathleen A., Bennett, Robin L., Bird, Thomas, Sybert, Virginia P., Grady, William M., Tabor, Holly K., Kim, Jerry H., Bamshad, Michael J., Wilfond, Benjamin, Motulsky, Arno G., Scott, C. Ronald, Pritchard, Colin C., Walsh, Tom D., Burke, Wylie, Raskind, Wendy H., Byers, Peter, Hisama, Fuki M., Rehm, Heidi, Nickerson, Debbie A., Jarvik, Gail P.
Publicado 2015