Steven A Skinner
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Explore the profile of Steven A Skinner including associated specialties, affiliations and a list of published articles.
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68
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1639
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Recent Articles
1.
Cooley Coleman J, Moffitt B, Bridges W, Jones K, May M, Skinner C, et al.
Metab Brain Dis
. 2025 Feb;
40(2):124.
PMID: 39945871
Genetic abnormalities of the MECP2 gene cause several conditions grouped under the umbrella term of MECP2-related disorders and characterized by a variety of phenotypes. We applied a functional approach to...
2.
Ananth A, Fu C, Neul J, Benke T, Marsh E, Suter B, et al.
Pediatr Neurol
. 2024 Oct;
161:263-267.
PMID: 39476560
Background: To assess the age and MECP2 variants of recently identified males and set the stage for further study of clinical features in males. Methods: Genetic information on the specific...
3.
Neul J, Benke T, Marsh E, Suter B, Fu C, Ryther R, et al.
Genes (Basel)
. 2024 Aug;
15(8).
PMID: 39202466
Although long-term survival in Rett syndrome (RTT) has been observed, limited information on older people with RTT exists. We hypothesized that increased longevity in RTT would be associated with genetic...
4.
Sadhwani A, Powers S, Wheeler A, Miller H, Potter S, Peters S, et al.
J Neurodev Disord
. 2024 Jun;
16(1):32.
PMID: 38879552
Background: Angelman syndrome (AS) is a neurodevelopmental disorder associated with severe global developmental delay. However, the ages at which different developmental skills are achieved in these individuals remain unclear. We...
5.
Perez-Cano L, Boccuto L, Sirci F, Hidalgo J, Valentini S, Bosio M, et al.
Biomedicines
. 2024 May;
12(5).
PMID: 38790952
Autism spectrum disorder (ASD) is a heterogeneous group of neurodevelopmental disorders (NDDs) with a high unmet medical need. The diagnosis of ASD is currently based on behavior criteria, which overlooks...
6.
Merritt J, Fang X, Caylor R, Skinner S, Friez M, Percy A, et al.
Genes (Basel)
. 2024 May;
15(5).
PMID: 38790223
Rett Syndrome (RTT) is a severe neurodevelopmental disorder predominately diagnosed in females and primarily caused by pathogenic variants in the X-linked gene (). Most often, the disease causing the allele...
7.
Abbott M, Angione K, Forbes E, Stoecker M, Saenz M, Neul J, et al.
Am J Med Genet A
. 2024 May;
194(10):e63725.
PMID: 38775384
Typical (or classic) Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a period of regression, partial or complete loss of purposeful hand movements, and acquired speech, impaired gait,...
8.
Li J, Zhou A, Lee C, Shah S, Ji J, Senthilkumar V, et al.
Nat Immunol
. 2024 Apr;
25(5):928.
PMID: 38641722
No abstract available.
9.
Li J, Zhou A, Lee C, Shah S, Ji J, Senthilkumar V, et al.
Nat Immunol
. 2024 Apr;
25(5):778-789.
PMID: 38589619
Natural killer (NK) cells are a critical first line of defense against viral infection. Rare mutations in a small subset of transcription factors can result in decreased NK cell numbers...
10.
Neul J, Benke T, Marsh E, Lane J, Lieberman D, Skinner S, et al.
Ann Child Neurol Soc
. 2024 Mar;
1(3):228-238.
PMID: 38496825
Objective: To determine the longitudinal distribution of hand function skills in individuals with classic Rett Syndrome (RTT), an X-linked dominant neurodevelopmental disorder, and correlate with variants. Method: We conducted a...