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Physiological Genomics|February 14, 2008
Altered neuronal gene expression in brain regions differentially affected by Alzheimer's disease: a reference data setWinnie S Liang, Travis Dunckley, Thomas G Beach, et al.
Neurobiology of Aging|June 24, 2008
Neuronal gene expression in non-demented individuals with intermediate Alzheimer's Disease neuropathologyWinnie S Liang, Travis Dunckley, Thomas G Beach, et al.
Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.
Human Mutation|July 10, 2020
The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndromeChun-An Chen, Emeline Crutcher, Harinder Gill, 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.
American Journal of Medical Genetics. Part A|August 29, 2018
De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophyMonica H Wojcik, Kyoko Okada, Sanjay P Prabhu, 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.
Human Genetics|November 22, 2019
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)Lorida Llaci, Keri Ramsey, Newell Belnap, et al.
Neuronal Signaling|July 28, 2020
A novel variant in <i>TAF1</i> affects gene expression and is associated with X-linked <i>TAF1</i> intellectual disability syndromeSarah E Hurst, Erika Liktor-Busa, Aubin Moutal, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotoniaAbby M Moskowitz, Newell Belnap, Ashley L Siniard, et al.
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