Cognitive dysfunction in NF1 knock-out mice may result from altered vesicular trafficking of APP/DRD3 complex

por Donarum, Elizabeth A, Halperin, Rebecca F, Stephan, Dietrich A, Narayanan, Vinodh
Publicado 2006

Evidence for population variation in TSC1 and TSC2 gene expression

por Jentarra, Garilyn M, Rice, Stephen G, Olfers, Shannon, Saffen, David, Narayanan, Vinodh
Publicado 2011

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse model

por Rangasamy, Sampathkumar, Olfers, Shannon, Gerald, Brittany, Hilbert, Alex, Svejda, Sean, Narayanan, Vinodh
Publicado 2016

A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching

por Kelly, Carolyn M., Zeiger, Peter J., Narayanan, Vinodh, Ramsey, Keri, Sondermann, Holger
Publicado 2021

Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities

por Narayanan, Mohan, Ramsey, Keri, Grebe, Theresa, Schrauwen, Isabelle, Szelinger, Szabolcs, Huentelman, Matthew, Craig, David, Narayanan, Vinodh
Publicado 2015

A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits

por Guzmán, Yomayra F., Ramsey, Keri, Stolz, Jacob R., Craig, David W., Huentelman, Mathew J., Narayanan, Vinodh, Swanson, Geoffrey T.
Publicado 2017

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex

por Wie, Jinhong, Bharthur, Apoorva, Wolfgang, Morgan, Narayanan, Vinodh, Ramsey, Keri, Aranda, Kimberly, Zhang, Qi, Zhou, Yandong, Ren, Dejian
Publicado 2020

GABRG2 Variants Associated with Febrile Seizures

por Hernandez, Ciria C., Shen, Yanwen, Hu, Ningning, Shen, Wangzhen, Narayanan, Vinodh, Ramsey, Keri, He, Wen, Zou, Liping, Macdonald, Robert L.
Publicado 2023

Abnormalities of cell packing density and dendritic complexity in the MeCP2 A140V mouse model of Rett syndrome/X-linked mental retardation

por Jentarra, Garilyn M, Olfers, Shannon L, Rice, Stephen G, Srivastava, Nishit, Homanics, Gregg E, Blue, Mary, Naidu, SakkuBai, Narayanan, Vinodh
Publicado 2010

Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations

por Ramsey, Keri, Belnap, Newell, Bonfitto, Anna, Jepsen, Wayne, Naymik, Marcus, Sanchez‐Castillo, Meredith, Craig, David W., Szelinger, Szabolcs, Huentelman, Matthew J., Narayanan, Vinodh, Rangasamy, Sampath
Publicado 2022

Characterization of X Chromosome Inactivation Using Integrated Analysis of Whole-Exome and mRNA Sequencing

por Szelinger, Szabolcs, Malenica, Ivana, Corneveaux, Jason J., Siniard, Ashley L., Kurdoglu, Ahmet A., Ramsey, Keri M., Schrauwen, Isabelle, Trent, Jeffrey M., Narayanan, Vinodh, Huentelman, Matthew J., Craig, David W.
Publicado 2014

Simultaneous recordings of ocular microtremor and microsaccades with a piezoelectric sensor and a video-oculography system

por McCamy, Michael B., Collins, Niamh, Otero-Millan, Jorge, Al-Kalbani, Mohammed, Macknik, Stephen L., Coakley, Davis, Troncoso, Xoana G., Boyle, Gerard, Narayanan, Vinodh, Wolf, Thomas R., Martinez-Conde, Susana
Publicado 2013

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

por Schrauwen, Isabelle, Szelinger, Szabolcs, Siniard, Ashley L., Kurdoglu, Ahmet, Corneveaux, Jason J., Malenica, Ivana, Richholt, Ryan, Van Camp, Guy, De Both, Matt, Swaminathan, Shanker, Turk, Mari, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2015

Two additional males with X‐linked, syndromic mental retardation carry de novo mutations in HNRNPH2

por Jepsen, Wayne M., Ramsey, Keri, Szelinger, Szabolcs, Llaci, Lorida, Balak, Chris, Belnap, Newell, Bilagody, Cherae, De Both, Matthew, Gupta, Raj, Naymik, Marcus, Pandey, Richa, Piras, Ignazio S., Sanchez‐Castillo, Meredith, Rangasamy, Sampathkumar, Narayanan, Vinodh, Huentelman, Matthew J.
Publicado 2019

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia

por Moskowitz, Abby M., Belnap, Newell, Siniard, Ashley L., Szelinger, Szabolcs, Claasen, Ana M., Richholt, Ryan F., De Both, Matt, Corneveaux, Jason J., Balak, Chris, Piras, Ignazio S., Russell, Megan, Courtright, Amanda L., Rangasamy, Sampath, Ramsey, Keri, Craig, David W., Narayanan, Vinodh, Huentelman, Matt J., Schrauwen, Isabelle
Publicado 2016

Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilit...

por Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Publicado 2017

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

por Hurst, Sarah E., Liktor-Busa, Erika, Moutal, Aubin, Parker, Sara, Rice, Sydney, Szelinger, Szabolcs, Senner, Grant, Hammer, Michael F., Johnstone, Laurel, Ramsey, Keri, Narayanan, Vinodh, Perez-Miller, Samantha, Khanna, May, Dahlin, Heather, Lewis, Karen, Craig, David, Wang, Edith H., Khanna, Rajesh, Nelson, Mark A.
Publicado 2018

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy

por Fassio, Anna, Esposito, Alessandro, Kato, Mitsuhiro, Saitsu, Hirotomo, Mei, Davide, Marini, Carla, Conti, Valerio, Nakashima, Mitsuko, Okamoto, Nobuhiko, Olmez Turker, Akgun, Albuz, Burcu, Semerci Gündüz, C Nur, Yanagihara, Keiko, Belmonte, Elisa, Maragliano, Luca, Ramsey, Keri, Balak, Chris, Siniard, Ashley, Narayanan, Vinodh, Ohba, Chihiro, Shiina, Masaaki, Ogata, Kazuhiro, Matsumoto, Naomichi, Benfenati, Fabio, Guerrini, Renzo
Publicado 2018

Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1

por Szelinger, Szabolcs, Krate, Jonida, Ramsey, Keri, Strom, Samuel P., Shieh, Perry B., Lee, Hane, Belnap, Newell, Balak, Chris, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, Both, Matt De, Claasen, Ana M., Schrauwen, Isabelle, Nelson, Stanley F., Huentelman, Matthew J., Craig, David W., Yang, Samuel P., Moore, Steven A., Sivakumar, Kumaraswamy, Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2020

Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders

por Frankel, Eric, Podder, Avijit, Sharifi, Megan, Pillai, Roshan, Belnap, Newell, Ramsey, Keri, Dodson, Julius, Venugopal, Pooja, Brzezinski, Molly, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Sanchez-Castillo, Meredith, Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Naymik, Marcus, Schrauwen, Isabelle, Craig, David W., Piras, Ignazio S., Huentelman, Matthew J., Schork, Nicholas J., Narayanan, Vinodh, Rangasamy, Sampathkumar
Publicado 2023