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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.
Clinical Genetics|May 8, 2024
FGF12 copy number variant associated with epileptic encephalopathyAnna Abraham, Keri Ramsey, Newell Belnap, et al.
Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
Genes|August 28, 2025
Integration of Genome and Epigenetic Testing in the Diagnostic Evaluation of Developmental Delay: Differentiating Börjeson-Forssman-Lehmann (BFLS) and White-Kernohan (WHIKERS) SyndromesKeri Ramsey, Supraja Prakash, Jennifer Kerkhof, et al.
Seminars in Pediatric Neurology|July 3, 2018
Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test resultsBrittany Gerald, Keri Ramsey, Newell Belnap, et al.
Rare (Amsterdam, Netherlands)|May 21, 2024
Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel <i>SMS</i> gene variantMegumi Leung, Meredith Sanchez-Castillo, Newell Belnap, et al.
American Journal of Human Genetics|May 3, 2016
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT ComplexJing You, Nara L Sobreira, Dustin L Gable, et al.
Clinical Genetics|July 26, 2023
Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndromeNewell Belnap, Aiai Price-Smith, Keri Ramsey, et al.
F1000Research|July 1, 2017
Case Report: Novel mutations in <i>TBC1D24</i> are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disabilityErika Banuelos, Keri Ramsey, Newell Belnap, et al.
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