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Stem Cell Research|October 18, 2022
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 controlBen N Stansfield, Sampath Rangasamy, Keri Ramsey, et al.
The Journal of Biological Chemistry|November 22, 2021
A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switchingCarolyn M Kelly, Peter J Zeiger, Vinodh Narayanan, et al.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|October 10, 2021
Progressive bilateral nuclear cataracts associated with cerebellar-facial-dental syndrome: case report, literature review, and identification of a new genetic variantBrianna Pandey, Newell Belnap, Chris Balak, et al.
Brain Sciences|November 27, 2024
Exploring the Frontier: The Human Microbiome's Role in Rare Childhood Neurological Diseases and EpilepsyNewell Belnap, Keri Ramsey, Sophia T Carvalho, et al.
F1000Research|November 5, 2015
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensitiesMohan Narayanan, Keri Ramsey, Theresa Grebe, et al.
Nature Communications|July 5, 2020
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complexJinhong Wie, Apoorva Bharthur, Morgan Wolfgang, et al.
Plos One|October 7, 2008
Variation in the large-scale organization of gene expression levels in the hippocampus relates to stable epigenetic variability in behaviorMark D Alter, Daniel B Rubin, Keri Ramsey, et al.
Neurology. Genetics|February 10, 2017
A gain-of-function mutation in the <i>GRIK2</i> gene causes neurodevelopmental deficitsYomayra F Guzmán, Keri Ramsey, Jacob R Stolz, et al.
Biomolecules|March 29, 2023
<i>GABRG2</i> Variants Associated with Febrile SeizuresCiria C Hernandez, Yanwen Shen, Ningning Hu, et al.
Biology Open|September 4, 2020
<i>Adenosine triphosphate binding cassette subfamily C member 1</i> (<i>ABCC1</i>) overexpression reduces APP processing and increases alpha- versus beta-secretase activity, <i>in vitro</i>Wayne M Jepsen, Matthew De Both, Ashley L Siniard, et al.
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