Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results
Gerald, Brittany, Ramsey, Keri, Belnap, Newell, Szelinger, Szabolcs, Siniard, Ashley L., Balak, Chris, Russell, Megan, Richholt, Ryan, De Both, Matt, Claasen, Ana M., Schrauwen, Isabelle, Huentelman, Matthew J., Craig, David W., Rangasamy, Sampathkumar, Narayanan, Vinodh
Published in Seminars in pediatric neurology (01.07.2018)
Published in Seminars in pediatric neurology (01.07.2018)
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Journal Article
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability
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
Published in F1000 research (2017)
Published in F1000 research (2017)
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Journal Article
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
Llaci, Lorida, Ramsey, Keri, Belnap, Newell, Claasen, Ana M., Balak, Chris D., Szelinger, Szabolcs, Jepsen, Wayne M., Siniard, Ashley L., Richholt, Ryan, Izat, Tyler, Naymik, Marcus, De Both, Matt, Piras, Ignazio S., Craig, David W., Huentelman, Matthew J., Narayanan, Vinodh, Schrauwen, Isabelle, Rangasamy, Sampathkumar
Published in Human genetics (01.12.2019)
Published in Human genetics (01.12.2019)
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Journal Article
Utilizing RNA and outlier analysis to identify an intronic splice‐altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia
McCullough, Carmel G., Szelinger, Szabolcs, Belnap, Newell, Ramsey, Keri, Schrauwen, Isabelle, Claasen, Ana M., Burke, Leah W., Siniard, Ashley L., Huentelman, Matthew J., Narayanan, Vinodh, Craig, David W.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Journal Article
Secreted amyloid precursor protein-α upregulates synaptic protein synthesis by a protein kinase G-dependent mechanism
Claasen, Ana M., Guévremont, Diane, Mason-Parker, Sara E., Bourne, Katie, Tate, Warren P., Abraham, Wickliffe C., Williams, Joanna M.
Published in Neuroscience letters (21.08.2009)
Published in Neuroscience letters (21.08.2009)
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Journal Article
Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1
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
Published in Neurology. Genetics (01.08.2020)
Published in Neurology. Genetics (01.08.2020)
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Journal Article
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
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
Published in Cold Spring Harbor molecular case studies (01.09.2016)
Published in Cold Spring Harbor molecular case studies (01.09.2016)
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Journal Article
Front Cover, Volume 41, Issue 2
McCullough, Carmel G., Szelinger, Szabolcs, Belnap, Newell, Ramsey, Keri, Schrauwen, Isabelle, Claasen, Ana M., Burke, Leah W., Siniard, Ashley L., Huentelman, Matthew J., Narayanan, Vinodh, Craig, David W.
Published in Human mutation (01.02.2020)
Published in Human mutation (01.02.2020)
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Journal Article
Complex genetic network underlying the convergent of Rett Syndrome like (RTT-L) phenotype in neurodevelopmental disorders
Frankel, Eric S, Dodson, Julius, Sharifi, Megan, Pillai, Roshan, Ramsey, Keri, Gupta, Raj, Brzezinski, Molly, Venugopal, Pooja, Llaci, Lorida, Gerald, Brittany, Mills, Gabrielle, Belnap, Newell, Sanchez-Castillo, Meredith, Balak, Chris D, Claasen, Ana M, Szelinger, Szabolcs, Jepsen, Wayne M, Siniard, Ashley L, Richholt, Ryan, De Both, Matt, Naymik, Marcus, Schrauwen, Isabelle, Piras, Ignazio S, Craig, David W, Huentelman, Matthew J, Narayanan, Vinodh, Sampathkumar Rangasamy
Published in bioRxiv (14.01.2020)
Published in bioRxiv (14.01.2020)
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