Cindy Skinner
Overview
Explore the profile of Cindy Skinner including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
73
Citations
2708
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
11.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Wang J, Foroutan A, Richardson E, Skinner S, Reilly J, Kerkhof J, et al.
Eur J Hum Genet
. 2023 Dec;
PMID: 38040915
No abstract available.
12.
Bosch E, Popp B, Guse E, Skinner C, Van der Sluijs P, Maystadt I, et al.
Genet Med
. 2023 Aug;
25(11):100950.
PMID: 37551667
Purpose: Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical and molecular data...
13.
Godler D, Inaba Y, Bui M, Francis D, Skinner C, Schwartz C, et al.
Int J Mol Sci
. 2023 Jul;
24(13).
PMID: 37445892
This study characterizes the DNA methylation patterns specific to fragile X syndrome (FXS) with a full mutation (FM > 200 CGGs), premutation (PM 55-199 CGGs), and X inactivation in blood...
14.
Moffitt B, Oberman L, Beamer L, Srikanth S, Jain L, Cascio L, et al.
Clin Genet
. 2023 May;
104(2):198-209.
PMID: 37198960
Phelan-McDermid Syndrome (PMS) is caused by deletions at chromosome 22q13.3 or pathogenic/likely pathogenic SHANK3 variants. The clinical presentation is extremely variable and includes global developmental delay/intellectual disability (ID), seizures, neonatal...
15.
Truong B, Shull L, Lencer E, Bend E, Field M, Blue E, et al.
Dis Model Mech
. 2023 Apr;
16(4).
PMID: 37083955
Split hand/foot malformation (SHFM) is a rare limb abnormality with clefting of the fingers and/or toes. For many individuals, the genetic etiology is unknown. Through whole-exome and targeted sequencing, we...
16.
Lee Y, Thomas M, Roychaudhury A, Skinner C, Maconachie G, Crosier M, et al.
Res Sq
. 2023 Mar;
PMID: 36993381
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. X-linked ID (XLID) disorders, caused by defects in genes on the X chromosome, affect...
17.
Rudy N, Aoki K, Ananth A, Holloway L, Skinner C, Hurst A, et al.
JIMD Rep
. 2023 Mar;
64(2):138-145.
PMID: 36873089
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in . The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected...
18.
Iqbal M, Broeckel U, Levy B, Skinner S, Sahajpal N, Rodriguez V, et al.
J Mol Diagn
. 2023 Feb;
25(3):175-188.
PMID: 36828597
This study compares optical genome mapping (OGM) performed at multiple sites with current standard-of-care (SOC) methods used in clinical cytogenetics. This study included 50 negative controls and 359 samples from...
19.
Schwartz C, Louie R, Toutain A, Skinner C, Friez M, Stevenson R
Am J Med Genet A
. 2022 Oct;
191(1):144-159.
PMID: 36300573
Genes that are involved in the transcription process, mitochondrial function, glycoprotein metabolism, and ubiquitination dominate the list of 21 new genes associated with X-linked intellectual disability since the last update...
20.
Colonna M, Moss T, Mokashi S, Srikanth S, Jones J, Foley J, et al.
Hum Mol Genet
. 2022 Sep;
32(5):732-744.
PMID: 36067040
Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated with cutaneous and neurological findings that overlap with both cutis laxa and spastic paraplegia. ALDH18A1 encodes the...