Modified Sensory Testing in Non-verbal Patients Receiving Novel Intrathecal Therapies for Neurological Disorders

por Cornelissen, Laura, Donado, Carolina, Yu, Timothy W., Berde, Charles B.
Publicado 2022

Integrating rapid exome sequencing into NICU clinical care after a pilot research study

por D’Gama, Alissa M., Del Rosario, Maya C., Bresnahan, Mairead A., Yu, Timothy W., Wojcik, Monica H., Agrawal, Pankaj B.
Publicado 2022

Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

por Aartsma-Rus, Annemieke, Garanto, Alejandro, van Roon-Mom, Willeke, McConnell, Erin M., Suslovitch, Victoria, Yan, Winston X., Watts, Jonathan K., Yu, Timothy W.
Publicado 2023

Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism

por 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.
Publicado 2012

Infant Mortality: the Contribution of Genetic Disorders

por Wojcik, Monica H., Schwartz, Talia S., Thiele, Katri E., Paterson, Heather, Stadelmaier, Rachel, Mullen, Thomas E., VanNoy, Grace E., Genetti, Casie A., Madden, Jill A., Gubbels, Cynthia S., Yu, Timothy W., Tan, Wen-Hann, Agrawal, Pankaj B.
Publicado 2019

Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication

por Kodani, Andrew, Yu, Timothy W, Johnson, Jeffrey R, Jayaraman, Divya, Johnson, Tasha L, Al-Gazali, Lihadh, Sztriha, Lāszló, Partlow, Jennifer N, Kim, Hanjun, Krup, Alexis L, Dammermann, Alexander, Krogan, Nevan J, Walsh, Christopher A, Reiter, Jeremy F
Publicado 2015

Recessive gene disruptions in autism spectrum disorder

por 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.
Publicado 2019

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder

por Schmitz-Abe, Klaus, Sanchez-Schmitz, Guzman, Doan, Ryan N., Hill, R. Sean, Chahrour, Maria H., Mehta, Bhaven K., Servattalab, Sarah, Ataman, Bulent, Lam, Anh-Thu N., Morrow, Eric M., Greenberg, Michael E., Yu, Timothy W., Walsh, Christopher A., Markianos, Kyriacos
Publicado 2020

CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry

por Heinl, Elena-Sofia, Lorenz, Sebastian, Schmidt, Barbara, Nasser M Laqtom, Nouf, Mazzulli, Joseph R., Francelle, Laetitia, Yu, Timothy W., Greenberg, Benjamin, Storch, Stephan, Tegtmeier, Ines, Othmen, Helga, Maurer, Katja, Steinfurth, Malin, Witzgall, Ralph, Milenkovic, Vladimir, Wetzel, Christian H., Reichold, Markus
Publicado 2022

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

por Yu, Timothy W., Mochida, Ganeshwaran H., Tischfield, David J., Sgaier, Sema K., Flores-Sarnat, Laura, Sergi, Consolato M., Topçu, Meral, McDonald, Marie T., Barry, Brenda J., Felie, Jillian, Sunu, Christine, Dobyns, William B., Folkerth, Rebecca D., Barkovich, A. James, Walsh, Christopher A.
Publicado 2010

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia

por Smedemark-Margulies, Niklas, Brownstein, Catherine A., Vargas, Sigella, Tembulkar, Sahil K., Towne, Meghan C., Shi, Jiahai, Gonzalez-Cuevas, Elisa, Liu, Kevin X., Bilguvar, Kaya, Kleiman, Robin J., Han, Min-Joon, Torres, Alcy, Berry, Gerard T., Yu, Timothy W., Beggs, Alan H., Agrawal, Pankaj B., Gonzalez-Heydrich, Joseph
Publicado 2016

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States

por Reddy, Hemakumar M., Cho, Kyung-Ah, Lek, Monkol, Estrella, Elicia, Valkanas, Elise, Jones, Michael D., Mitsuhashi, Satomi, Darras, Basil T., Amato, Anthony A., Lidov, Hart G.W., Brownstein, Catherine A., Margulies, David M., Yu, Timothy W., Salih, Mustafa A., Kunkel, Louis M., MacArthur, Daniel G., Kang, Peter B.
Publicado 2016

Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report

por Murry, Jaclyn B., Machini, Kalotina, Ceyhan-Birsoy, Ozge, Kritzer, Amy, Krier, Joel B., Lebo, Matthew S., Fayer, Shawn, Genetti, Casie A., VanNoy, Grace E., Yu, Timothy W., Agrawal, Pankaj B., Parad, Richard B., Holm, Ingrid A., McGuire, Amy L., Green, Robert C., Beggs, Alan H., Rehm, Heidi L.
Publicado 2018

Parental Interest in Genomic Sequencing of Newborns: Enrollment Experience from the BabySeq Project

por Genetti, Casie A., Schwartz, Talia S., Robinson, Jill O., VanNoy, Grace E., Petersen, Devan, Pereira, Stacey, Fayer, Shawn, Peoples, Hayley A., Agrawal, Pankaj B., Betting, Wendi N., Holm, Ingrid A., McGuire, Amy L., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H., Parad, Richard B.
Publicado 2018

Children’s rare disease cohorts: an integrative research and clinical genomics initiative

por Rockowitz, Shira, LeCompte, Nicholas, Carmack, Mary, Quitadamo, Andrew, Wang, Lily, Park, Meredith, Knight, Devon, Sexton, Emma, Smith, Lacey, Sheidley, Beth, Field, Michael, Holm, Ingrid A., Brownstein, Catherine A., Agrawal, Pankaj B., Kornetsky, Susan, Poduri, Annapurna, Snapper, Scott B., Beggs, Alan H., Yu, Timothy W., Williams, David A., Sliz, Piotr
Publicado 2020

The BabySeq project: implementing genomic sequencing in newborns

por Holm, Ingrid A., Agrawal, Pankaj B., Ceyhan-Birsoy, Ozge, Christensen, Kurt D., Fayer, Shawn, Frankel, Leslie A., Genetti, Casie A., Krier, Joel B., LaMay, Rebecca C., Levy, Harvey L., McGuire, Amy L., Parad, Richard B., Park, Peter J., Pereira, Stacey, Rehm, Heidi L., Schwartz, Talia S., Waisbren, Susan E., Yu, Timothy W., Green, Robert C., Beggs, Alan H.
Publicado 2018

Common genetic variants, acting additively, are a major source of risk for autism

por Klei, Lambertus, Sanders, Stephan J, Murtha, Michael T, Hus, Vanessa, Lowe, Jennifer K, Willsey, A Jeremy, Moreno-De-Luca, Daniel, Yu, Timothy W, Fombonne, Eric, Geschwind, Daniel, Grice, Dorothy E, Ledbetter, David H, Lord, Catherine, Mane, Shrikant M, Martin, Christa Lese, Martin, Donna M, Morrow, Eric M, Walsh, Christopher A, Melhem, Nadine M, Chaste, Pauline, Sutcliffe, James S, State, Matthew W, Cook, Edwin H, Roeder, Kathryn, Devlin, Bernie
Publicado 2012

Developing antisense oligonucleotides for a TECPR2 mutation-induced, ultra-rare neurological disorder using patient-derived cellular models

por Williams, Luis A., Gerber, David J., Elder, Amy, Tseng, Wei Chou, Baru, Valeriya, Delaney-Busch, Nathaniel, Ambrosi, Christina, Mahimkar, Gauri, Joshi, Vaibhav, Shah, Himali, Harikrishnan, Karthiayani, Upadhyay, Hansini, Rajendran, Sakthi H., Dhandapani, Aishwarya, Meier, Joshua, Ryan, Steven J., Lewarch, Caitlin, Black, Lauren, Douville, Julie, Cinquino, Stefania, Legakis, Helen, Nalbach, Karsten, Behrends, Christian, Sato, Ai, Galluzzi, Lorenzo, Yu, Timothy W., Brown, Duncan, Agrawal, Sudhir, Margulies, David, Kopin, Alan, Dempsey, Graham T.
Publicado 2022

Biallelic Mutations In Human DCC Cause Developmental Split Brain Syndrome

por Jamuar, Saumya S., Schmitz-Abe, Klaus, D’Gama, Alissa M., Drottar, Marie, Chan, Wai-Man, Peeva, Maya, Servattalab, Sarah, Lam, Anh-Thu N., Delgado, Mauricio R., Clegg, Nancy J., Al Zayed, Zayed, Dogar, Mohammad Asif, Alorainy, Ibrahim A., Jamea, Abdullah Abu, Abu-Amero, Khaled, Griebel, May, Ward, Wendy, Lein, Ed S., Markianos, Kyriacos, Barkovich, A. James, Robson, Caroline D., Grant, P. Ellen, Bosley, Thomas M., Engle, Elizabeth C., Walsh, Christopher A., Yu, Timothy W.
Publicado 2017

A framework for individualized splice-switching oligonucleotide therapy

por Kim, Jinkuk, Woo, Sijae, de Gusmao, Claudio M., Zhao, Boxun, Chin, Diana H., DiDonato, Renata L., Nguyen, Minh A., Nakayama, Tojo, Hu, Chunguang April, Soucy, Aubrie, Kuniholm, Ashley, Thornton, Jennifer Karlin, Riccardi, Olivia, Friedman, Danielle A., El Achkar, Christelle Moufawad, Dash, Zane, Cornelissen, Laura, Donado, Carolina, Faour, Kamli N. W., Bush, Lynn W., Suslovitch, Victoria, Lentucci, Claudia, Park, Peter J., Lee, Eunjung Alice, Patterson, Al, Philippakis, Anthony A., Margus, Brad, Berde, Charles B., Yu, Timothy W.
Publicado 2023