Lindsay C Swanson
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Explore the profile of Lindsay C Swanson including associated specialties, affiliations and a list of published articles.
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28
Citations
911
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Recent Articles
1.
Haviland I, Hector R, Swanson L, Verran A, Sherrill E, Frazier Z, et al.
Am J Med Genet A
. 2024 Aug;
197(1):e63843.
PMID: 39205479
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with CDKL5 deficiency disorder (CDD), a severe X-linked developmental and epileptic encephalopathy. Deletions affecting the 5' untranslated region (UTR)...
2.
Borroto M, Patel H, Srivastava S, Swanson L, Keren B, Whalen S, et al.
Pediatr Neurol
. 2024 Aug;
160:45-53.
PMID: 39181022
Background: GTPases of the Rab family are important orchestrators of membrane trafficking, and their dysregulation has been linked to a variety of neuropathologies. In 2017, we established a causal link...
3.
Saby J, Peters S, Benke T, Standridge S, Swanson L, Lieberman D, et al.
J Neurodev Disord
. 2023 Mar;
15(1):10.
PMID: 36870948
Background: Developing biomarkers is a priority for drug development for all conditions, but vital in the rare neurodevelopmental disorders where sensitive outcome measures are lacking. We have previously demonstrated the...
4.
Haviland I, Daniels C, Greene C, Drew J, Love-Nichols J, Swanson L, et al.
Pediatr Neurol
. 2022 Nov;
138:71-80.
PMID: 36403551
Background: Evidence of the impact of genetic diagnosis on medical management in individuals with previously unexplained epilepsy is lacking in the literature. Our goal was to determine the impact of...
5.
Zlatic S, Duong D, Gadalla K, Murage B, Ping L, Shah R, et al.
iScience
. 2022 Sep;
25(9):104966.
PMID: 36060065
MECP2 loss-of-function mutations cause Rett syndrome, a neurodevelopmental disorder resulting from a disrupted brain transcriptome. How these transcriptional defects are decoded into a disease proteome remains unknown. We studied the...
6.
Saby J, Mulcahey P, Zavez A, Peters S, Standridge S, Swanson L, et al.
Brain Commun
. 2022 Aug;
4(4):fcac197.
PMID: 35974796
CDKL5 deficiency disorder is a debilitating developmental and epileptic encephalopathy for which no targeted treatment exists. A number of promising therapeutics are under development for CDKL5 deficiency disorder but a...
7.
Keehan L, Haviland I, Gofin Y, Swanson L, El Achkar C, Schreiber J, et al.
Am J Med Genet A
. 2022 Aug;
188(12):3516-3524.
PMID: 35934918
Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is caused by heterozygous or hemizygous variants in CDKL5 and is characterized by refractory epilepsy, cognitive and motor impairments, and cerebral visual impairment....
8.
Olson H, Daniels C, Haviland I, Swanson L, Greene C, Denny A, et al.
J Neurodev Disord
. 2021 Sep;
13(1):40.
PMID: 34530725
Background: CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset epilepsy, global developmental delay, and variable features that include sleep, behavioral disturbances, and movement disorders. Current treatment is primarily...
9.
Srivastava S, Macke E, Swanson L, Coulter D, Klee E, Mullegama S, et al.
Brain Sci
. 2021 Aug;
11(7).
PMID: 34356165
In humans, de novo truncating variants in (Wiskott-Aldrich syndrome protein family member 1) have been linked to presentations of moderate-to-profound intellectual disability (ID), autistic features, and epilepsy. Apart from one...
10.
Braden R, Amor D, Fisher S, Mei C, Myers C, Mefford H, et al.
Dev Med Child Neurol
. 2021 Jun;
63(12):1417-1426.
PMID: 34109629
Aim: To delineate the speech and language phenotype of a cohort of individuals with FOXP1-related disorder. Method: We administered a standardized test battery to examine speech and oral motor function,...