Cindy Skinner
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Explore the profile of Cindy Skinner including associated specialties, affiliations and a list of published articles.
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73
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2708
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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.
Chapin J, Sadikovic B, Kerkhof J, Schwartz C, Stevenson R, Skinner C, et al.
Eur J Med Genet
. 2025 Feb;
74:104997.
PMID: 39900177
Over two decades ago, a primigravid female presented with concern for recurrence of an adverse phenotype affecting her three brothers. The three brothers presented with intellectual disability, developmental delay, behavior...
3.
Talarico M, de Bellescize J, De Wachter M, Le Guillou X, Le Meur G, Egloff M, et al.
Genet Med
. 2024 Dec;
27(4):101347.
PMID: 39707840
Purpose: RORA encodes the RAR-related orphan receptor-α, playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder. Methods: Forty individuals...
4.
Chettle J, Louie R, Larner O, Best R, Chen K, Morris J, et al.
HGG Adv
. 2024 Aug;
5(4):100345.
PMID: 39182167
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) that affects approximately 4% of males and 1% of females in the United States. While causes of ASD are multi-factorial, single...
5.
Roychaudhury A, Lee Y, Choi T, Thomas M, Khan T, Yousaf H, et al.
Ann Neurol
. 2024 Jul;
96(5):914-931.
PMID: 39073169
Objective: Intellectual disability is often the outcome of neurodevelopmental disorders and is characterized by significant impairments in intellectual and adaptive functioning. X-linked intellectual disability (XLID) is a subset of these...
6.
Sarli C, van der Laan L, Reilly J, Trajkova S, Carli D, Brusco A, et al.
Am J Med Genet C Semin Med Genet
. 2024 Jun;
196(4):e32089.
PMID: 38884529
Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides-Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused...
7.
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...
8.
Montanaro F, Mandarino A, Alesi V, Schwartz C, Sepulveda D, Skinner C, et al.
Front Psychiatry
. 2024 Feb;
15:1375954.
PMID: 38414498
[This corrects the article DOI: 10.3389/fpsyt.2023.1327802.].
9.
Montanaro F, Mandarino A, Alesi V, Schwartz C, Sepulveda D, Skinner C, et al.
Front Psychiatry
. 2024 Jan;
14:1327802.
PMID: 38288059
Introduction: X-linked gene has recently been pointed as one of the most interesting candidates for involvement in neurodevelopmental disorders (NDs), such as intellectual disability (ID) and autism spectrum disorder (ASD)....
10.
Broeckel U, Iqbal M, Levy B, Sahajpal N, Nagy P, Scharer G, et al.
J Mol Diagn
. 2024 Jan;
26(3):213-226.
PMID: 38211722
Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical...