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

Generation of an iPSC line from a Pontocerebellar Hypoplasia 1B patient harboring a homozygous c.395 A > C mutation in EXOSC3 along with a family matched control

por Stansfield, Ben N., Rangasamy, Sampath, Ramsey, Keri, Khanna, May, Churko, Jared M.
Publicado 2022

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

Variation in the Large-Scale Organization of Gene Expression Levels in the Hippocampus Relates to Stable Epigenetic Variability in Behavior

por Alter, Mark D., Rubin, Daniel B., Ramsey, Keri, Halpern, Rebecca, Stephan, Dietrich A., Abbott, L. F., Hen, Rene
Publicado 2008

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

Adenosine triphosphate binding cassette subfamily C member 1 (ABCC1) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, in vitro

por Jepsen, Wayne M., De Both, Matthew, Siniard, Ashley L., Ramsey, Keri, Piras, Ignazio S., Naymik, Marcus, Henderson, Adrienne, Huentelman, Matthew J.
Publicado 2021

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

Clinical and genetic characterization of individuals with predicted deleterious PHIP variants

por Craddock, Kirsten E., Okur, Volkan, Wilson, Ashley, Gerkes, Erica H., Ramsey, Keri, Heeley, Jennifer M., Juusola, Jane, Vitobello, Antonio, Dupeyron, Marie-Noelle Bonnet, Faivre, Laurence, Chung, Wendy K.
Publicado 2019

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

Autism and Increased Paternal Age Related Changes in Global Levels of Gene Expression Regulation

por Alter, Mark D., Kharkar, Rutwik, Ramsey, Keri E., Craig, David W., Melmed, Raun D., Grebe, Theresa A., Bay, R. Curtis, Ober-Reynolds, Sharman, Kirwan, Janet, Jones, Josh J., Turner, J. Blake, Hen, Rene, Stephan, Dietrich A.
Publicado 2011

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