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Cindy Skinner

Explore the profile of Cindy Skinner including associated specialties, affiliations and a list of published articles. Areas
Snapshot
Articles 73
Citations 2708
Followers 0
Related Specialties
Genetics
Molecular Biology
General Medicine
Top 10 Co-Authors
Charles E Schwartz
Roger E Stevenson
Charles Schwartz
Michael J Friez
Bekim Sadikovic
Jozef Gecz
Tao Wang
Melanie May
Patrick S Tarpey
Richard J Simensen
Published In
Am J Med Genet A
Hum Mol Genet
Genet Med
J Mol Diagn
Eur J Hum Genet
Affiliations
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Recent Articles
31.
Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders
Srivastava S, Niranjan T, May M, Tarpey P, Allen W, Hackett A, et al.
Mol Genet Genomic Med . 2019 Feb; 7(4):e00569. PMID: 30729724
Background: Mutations in mediator of RNA polymerase II transcription subunit 12 homolog (MED12, OMIM 300188) cause X-linked intellectual disability (XLID) disorders including FG, Lujan, and Ohdo syndromes. The Gli3-dependent Sonic...
32.
Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants
Pizzo L, Jensen M, Polyak A, Rosenfeld J, Mannik K, Krishnan A, et al.
Genet Med . 2018 Sep; 21(4):816-825. PMID: 30190612
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed...
33.
A Rare De Novo Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation
Abad C, Cook M, Cao L, Jones J, Rao N, Dukes-Rimsky L, et al.
Biology (Basel) . 2018 May; 7(2). PMID: 29794985
Deletions and mutations involving the Retinoic Acid Induced 1 () gene at 17p11.2 cause Smith-Magenis syndrome (SMS). Here we report a patient with autism as the main clinical presentation, with...
34.
Peripheral blood epi-signature of Claes-Jensen syndrome enables sensitive and specific identification of patients and healthy carriers with pathogenic mutations in
Schenkel L, Aref-Eshghi E, Skinner C, Ainsworth P, Lin H, Pare G, et al.
Clin Epigenetics . 2018 Feb; 10:21. PMID: 29456765
Background: Claes-Jensen syndrome is an X-linked inherited intellectual disability caused by mutations in the gene. Kdm5c is a histone lysine demethylase involved in histone modifications and chromatin remodeling. Males with...
35.
Genomic DNA Methylation Signatures Enable Concurrent Diagnosis and Clinical Genetic Variant Classification in Neurodevelopmental Syndromes
Aref-Eshghi E, Rodenhiser D, Schenkel L, Lin H, Skinner C, Ainsworth P, et al.
Am J Hum Genet . 2018 Jan; 102(1):156-174. PMID: 29304373
Pediatric developmental syndromes present with systemic, complex, and often overlapping clinical features that are not infrequently a consequence of Mendelian inheritance of mutations in genes involved in DNA methylation, establishment...
36.
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis
Piard J, Hu J, Campeau P, Rzonca S, Van Esch H, Vincent E, et al.
Hum Mol Genet . 2017 Dec; 27(4):589-600. PMID: 29267967
FRMPD4 (FERM and PDZ Domain Containing 4) is a neural scaffolding protein that interacts with PSD-95 to positively regulate dendritic spine morphogenesis, and with mGluR1/5 and Homer to regulate mGluR1/5...
37.
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance
Aref-Eshghi E, Schenkel L, Lin H, Skinner C, Ainsworth P, Pare G, et al.
Epigenetics . 2017 Sep; 12(11):923-933. PMID: 28933623
Kabuki syndrome (KS) is caused by mutations in KMT2D, which is a histone methyltransferase involved in methylation of H3K4, a histone marker associated with DNA methylation. Analysis of >450,000 CpGs...
38.
Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders
Aref-Eshghi E, Schenkel L, Lin H, Skinner C, Ainsworth P, Pare G, et al.
J Mol Diagn . 2017 Aug; 19(6):848-856. PMID: 28807811
Genomic imprinting involves a DNA methylation-dependent and parent-of-origin-specific regulation of gene expression. Clinical assays for imprinting disorders are genomic locus, disorder, and molecular defect specific. We aimed to clinically validate...
39.
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression
Donnio L, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, et al.
Hum Mol Genet . 2017 Apr; 26(11):2062-2075. PMID: 28369444
Mediator occupies a key role in protein coding genes expression in mediating the contacts between gene specific factors and the basal transcription machinery but little is known regarding the role...
40.
Identification and characterization of a missense mutation in the -linked β--acetylglucosamine (-GlcNAc) transferase gene that segregates with X-linked intellectual disability
Vaidyanathan K, Niranjan T, Selvan N, Teo C, May M, Patel S, et al.
J Biol Chem . 2017 Mar; 292(21):8948-8963. PMID: 28302723
-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that has been implicated in multiple biological processes, including transcription. In humans, single genes encode enzymes for its attachment (-GlcNAc transferase...