Whole-exome sequencing with targeted analysis and epilepsy after acute symptomatic neonatal seizures

por Numis, Adam L., da Gente, Gilberto, Sherr, Elliott H., Glass, Hannah C.
Publicado 2021

Integrated stress response inhibition provides sex-dependent protection against noise-induced cochlear synaptopathy

por Rouse, Stephanie L., Matthews, Ian R., Li, Jiang, Sherr, Elliott H., Chan, Dylan K.
Publicado 2020

Detection of identity by descent using next-generation whole genome sequencing data

por Su, Shu-Yi, Kasberger, Jay, Baranzini, Sergio, Byerley, William, Liao, Wilson, Oksenberg, Jorge, Sherr, Elliott, Jorgenson, Eric
Publicado 2012

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations

por Lopez Jimenez, Nelson, Flannick, Jason, Yahyavi, Mani, Li, Jiang, Bardakjian, Tanya, Tonkin, Leath, Schneider, Adele, Sherr, Elliott H, Slavotinek, Anne M
Publicado 2011

Mapk/Erk activation in an animal model of social deficits shows a possible link to autism

por Faridar, Alireza, Jones-Davis, Dorothy, Rider, Eric, Li, Jiang, Gobius, Ilan, Morcom, Laura, Richards, Linda J, Sen, Saunak, Sherr, Elliott H
Publicado 2014

Abnormal Speech Motor Control in Individuals with 16p11.2 Deletions

por Demopoulos, Carly, Kothare, Hardik, Mizuiri, Danielle, Henderson-Sabes, Jennifer, Fregeau, Brieana, Tjernagel, Jennifer, Houde, John F., Sherr, Elliott H., Nagarajan, Srikantan S.
Publicado 2018

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction

por Marco, Elysa Jill, Aitken, Anne Brandes, Nair, Vishnu Prakas, da Gente, Gilberto, Gerdes, Molly Rae, Bologlu, Leyla, Thomas, Sean, Sherr, Elliott H.
Publicado 2018

Abnormal auditory and language pathways in children with 16p11.2 deletion

por Berman, Jeffrey I., Chudnovskaya, Darina, Blaskey, Lisa, Kuschner, Emily, Mukherjee, Pratik, Buckner, Randall, Nagarajan, Srikantan, Chung, Wendy K., Spiro, John E., Sherr, Elliott H., Roberts, Timothy P.L.
Publicado 2015

Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption

por Paciorkowski, Alex R, Keppler-Noreuil, Kim, Robinson, Luther, Sullivan, Christopher, Sajan, Samin, Christian, Susan L, Bukshpun, Polina, Gabriel, Stacy B, Gleeson, Joseph G, Sherr, Elliott H, Dobyns, William B
Publicado 2013

Quantitative Trait Loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T(+) tf/J Mouse Model of Autism

por Jones-Davis, Dorothy M., Yang, Mu, Rider, Eric, Osbun, Nathan C., da Gente, Gilberto J., Li, Jiang, Katz, Adam M., Weber, Michael D., Sen, Saunak, Crawley, Jacqueline, Sherr, Elliott H.
Publicado 2013

Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta)

por Sclafani, Valentina, Del Rosso, Laura A., Seil, Shannon K., Calonder, Laura A., Madrid, Jesus E., Bone, Kyle J., Sherr, Elliott H., Garner, Joseph P., Capitanio, John P., Parker, Karen J.
Publicado 2016

White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation

por Chang, Yi Shin, Owen, Julia P., Pojman, Nicholas J., Thieu, Tony, Bukshpun, Polina, Wakahiro, Mari L. J., Berman, Jeffrey I., Roberts, Timothy P. L., Nagarajan, Srikantan S., Sherr, Elliott H., Mukherjee, Pratik
Publicado 2015

Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys

por Oztan, Ozge, Talbot, Catherine F., Argilli, Emanuela, Maness, Alyssa C., Simmons, Sierra M., Mohsin, Noreen, Del Rosso, Laura A., Garner, Joseph P., Sherr, Elliott H., Capitanio, John P., Parker, Karen J.
Publicado 2021

DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation

por Morcom, Laura, Edwards, Timothy J, Rider, Eric, Jones-Davis, Dorothy, Lim, Jonathan WC, Chen, Kok-Siong, Dean, Ryan J, Bunt, Jens, Ye, Yunan, Gobius, Ilan, Suárez, Rodrigo, Mandelstam, Simone, Sherr, Elliott H, Richards, Linda J
Publicado 2021

Clinical Characteristics of Seizures and Epilepsy in Individuals With Recurrent Deletions and Duplications in the 16p11.2 Region

por Moufawad El Achkar, Christelle, Rosen, Alyssa, Kessler, Sudha Kilaru, Steinman, Kyle J., Spence, Sarah J., Ramocki, Melissa, Marco, Elysa Jill, Green Snyder, LeeAnne, Spiro, John E., Chung, Wendy K., Annapurna, Poduri, Sherr, Elliott H.
Publicado 2022

The Role of Corpus Callosum Development in Functional Connectivity and Cognitive Processing

por Hinkley, Leighton B. N., Marco, Elysa J., Findlay, Anne M., Honma, Susanne, Jeremy, Rita J., Strominger, Zoe, Bukshpun, Polina, Wakahiro, Mari, Brown, Warren S., Paul, Lynn K., Barkovich, A. James, Mukherjee, Pratik, Nagarajan, Srikantan S., Sherr, Elliott H.
Publicado 2012

Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss

por Marsh, Ashley P.L., Lukic, Vesna, Pope, Kate, Bromhead, Catherine, Tankard, Rick, Ryan, Monique M., Yiu, Eppie M., Sim, Joe C.H., Delatycki, Martin B., Amor, David J., McGillivray, George, Sherr, Elliott H., Bahlo, Melanie, Leventer, Richard J., Lockhart, Paul J.
Publicado 2015

Newborn screening for neurodevelopmental diseases: Are we there yet?

por Chung, Wendy K., Berg, Jonathan S., Botkin, Jeffrey R., Brenner, Steven E., Brosco, Jeffrey P., Brothers, Kyle B., Currier, Robert J., Gaviglio, Amy, Kowtoniuk, Walter E., Olson, Colleen, Lloyd‐Puryear, Michele, Saarinen, Annamarie, Sahin, Mustafa, Shen, Yufeng, Sherr, Elliott H., Watson, Michael S., Hu, Zhanzhi
Publicado 2022

Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

por Sajan, Samin A., Fernandez, Liliana, Nieh, Sahar Esmaeeli, Rider, Eric, Bukshpun, Polina, Wakahiro, Mari, Christian, Susan L., Rivière, Jean-Baptiste, Sullivan, Christopher T., Sudi, Jyotsna, Herriges, Michael J., Paciorkowski, Alexander R., Barkovich, A. James, Glessner, Joseph T., Millen, Kathleen J., Hakonarson, Hakon, Dobyns, William B., Sherr, Elliott H.
Publicado 2013

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation

por Alber, Michael, Kalscheuer, Vera M., Marco, Elysa, Sherr, Elliott, Lesca, Gaetan, Till, Marianne, Gradek, Gyri, Wiesener, Antje, Korenke, Christoph, Mercier, Sandra, Becker, Felicitas, Yamamoto, Toshiyuki, Scherer, Stephen W., Marshall, Christian R., Walker, Susan, Dutta, Usha R., Dalal, Ashwin B., Suckow, Vanessa, Jamali, Payman, Kahrizi, Kimia, Najmabadi, Hossein, Minassian, Berge A.
Publicado 2017