Cora M Taylor
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Explore the profile of Cora M Taylor including associated specialties, affiliations and a list of published articles.
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13
Citations
237
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Recent Articles
1.
Kowanda M, Smith R, Lundy J, Kentros C, Kleinman E, Walsh L, et al.
Genet Med Open
. 2024 Dec;
2:101845.
PMID: 39669614
Purpose: Limited knowledge about disease mechanisms, few published cases, and the lack of functional assessment of variants for neurodevelopmental genetic disorders challenge diagnostic classification for variants and increase the frequency...
2.
Mitchel M, Turner S, Walsh L, Torene R, Myers S, Taylor C
Res Sq
. 2024 Sep;
PMID: 39257968
Background: -related disorder is associated with intellectual disability, motor delay, and speech deficits. Previous studies have focused on broad clinical descriptions of individuals, but limited information regarding specific speech diagnoses...
3.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, et al.
medRxiv
. 2024 Sep;
PMID: 39252907
Variable expressivity of disease-associated variants implies a role for secondary variants that modify clinical features. We assessed the effects of modifier variants towards clinical outcomes of 2,252 individuals with primary...
4.
Lee C, Snyder L, Carpenter L, Harris J, Kanne S, Taylor C, et al.
Autism Res
. 2023 Apr;
16(6):1210-1224.
PMID: 37097835
Assessing cognitive development is critical in clinical research of autism spectrum disorder (ASD). However, collecting cognitive data from clinically administered assessments can add a significant burden to clinical research in...
5.
Taylor C, Finucane B, Moreno-De-Luca A, Walsh L, Martin C, Ledbetter D
Genet Med
. 2023 Jan;
25(1):151-154.
PMID: 36609147
Purpose: Recurrent 16p11.2 duplications produce a wide range of clinical outcomes with varying effects on cognition and social functioning. Family-based studies of copy number variants (CNVs) have revealed significant contributions...
6.
Ferguson C, Urso O, Bodrug T, Gassaway B, Watson E, Prabu J, et al.
Mol Cell
. 2021 Dec;
82(1):90-105.e13.
PMID: 34942119
Neurodevelopmental cognitive disorders provide insights into mechanisms of human brain development. Here, we report an intellectual disability syndrome caused by the loss of APC7, a core component of the E3...
7.
Kowanda M, Cartner L, Kentros C, Geltzeiler A, Singer K, Weaver W, et al.
J Child Neurol
. 2021 Apr;
36(9):760-767.
PMID: 33829918
Because of the COVID-19 pandemic, in-person services for individuals with neurodevelopmental disabilities were disrupted globally, resulting in a transition to remote delivery of services and therapies. For individuals with neurogenetic...
8.
Strauss K, Williams K, Carson V, Poskitt L, Bowser L, Young M, et al.
Mol Genet Metab
. 2020 Oct;
131(3):325-340.
PMID: 33069577
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. Without treatment, GA1 causes striatal degeneration in >80% of affected children...
9.
Strauss K, Carson V, Soltys K, Young M, Bowser L, Puffenberger E, et al.
Mol Genet Metab
. 2020 Jan;
129(3):193-206.
PMID: 31980395
Over the past three decades, we studied 184 individuals with 174 different molecular variants of branched-chain α-ketoacid dehydrogenase activity, and here delineate essential clinical and biochemical aspects of the maple...
10.
Sanders S, Campbell A, Cottrell J, Moller R, Wagner F, Auldridge A, et al.
Trends Neurosci
. 2018 Apr;
41(7):442-456.
PMID: 29691040
Advances in gene discovery for neurodevelopmental disorders have identified SCN2A dysfunction as a leading cause of infantile seizures, autism spectrum disorder, and intellectual disability. SCN2A encodes the neuronal sodium channel...