Cindy Skinner
Overview
Explore the profile of Cindy Skinner including associated specialties, affiliations and a list of published articles.
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Articles
73
Citations
2708
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Recent Articles
21.
McGee S, Rajamanickam S, Adhikari S, Falayi O, Wilson T, Shayota B, et al.
Hum Mol Genet
. 2022 Aug;
32(3):386-401.
PMID: 35981081
De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a phenotypic spectrum of disorders...
22.
Maio N, Saneto R, Steet R, Sotero de Menezes M, Skinner C, Rouault T
Brain Commun
. 2022 May;
4(3):fcac102.
PMID: 35602653
Altered brain iron homeostasis can contribute to neurodegeneration by interfering with the delivery of the iron needed to support key cellular processes, including mitochondrial respiration, synthesis of myelin and essential...
23.
Wang J, Foroutan A, Richardson E, Skinner S, Reilly J, Kerkhof J, et al.
Eur J Hum Genet
. 2022 Jan;
30(4):420-427.
PMID: 34992252
ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new...
24.
Jain L, Oberman L, Beamer L, Cascio L, May M, Srikanth S, et al.
Clin Genet
. 2021 Oct;
101(1):87-100.
PMID: 34664257
Phelan-McDermid syndrome (PMS) (OMIM*606232) is a rare genetic disorder characterized by intellectual disability, autistic features, speech delay, minor dysmorphia, and seizures. This study was conducted to investigate the prevalence of...
25.
Aprigliano R, Aksu M, Bradamante S, Mihaljevic B, Wang W, Rian K, et al.
Cell Rep Med
. 2021 May;
2(4):100240.
PMID: 33948573
Essential E3 ubiquitin ligase HUWE1 (HECT, UBA, and WWE domain containing 1) regulates key factors, such as p53. Although mutations in cause heterogenous neurodevelopmental X-linked intellectual disabilities (XLIDs), the disease...
26.
Yu S, Wang T, Wiggins K, Louie R, Merino E, Skinner C, et al.
Genet Med
. 2021 Mar;
23(7):1305-1314.
PMID: 33731878
Purpose: Variants in NUS1 are associated with a congenital disorder of glycosylation, developmental and epileptic encephalopathies, and are possible contributors to Parkinson disease pathogenesis. How the diverse functions of the...
27.
Lee Y, Khan K, Armfield-Uhas K, Srikanth S, Thompson N, Pardo M, et al.
Nat Commun
. 2020 Jul;
11(1):3698.
PMID: 32703943
Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original...
28.
Louie R, Collins D, Friez M, Skinner C, Schwartz C, Stevenson R
Am J Med Genet A
. 2020 Jul;
182(9):2168-2174.
PMID: 32681719
A family with three affected males and a second family with a single affected male with intellectual disability, microcephaly, ophthalmoplegia, deafness, and Involuntary limb movements were reported by Schimke and...
29.
Skinner C, Pauly R, Skinner S, Schroer R, Simensen R, Taylor H, et al.
J Autism Dev Disord
. 2020 Jun;
51(2):677-684.
PMID: 32592095
The course of 187 individuals ages 3-21 years with Autistic Disorder was traced through a period of 20 years (enrollment: 1995-1998, follow up: 2014-2019). Specific genetic and environmental causes were...
30.
Louie R, Friez M, Skinner C, Baraitser M, Clark R, Schwartz C, et al.
Am J Med Genet A
. 2019 Dec;
182(3):595-596.
PMID: 31814248
No abstract available.