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Articles by Golder N. Wilson
Analysis of 3832 Patients over 15 Years Confirms Unusual, Genome-Wide Copy Number Variation in Patients with Developmental Disability-Autism
You are already at the latest version Chromosome microarray analysis performed on 3,842 patients over 15 years (2009-2024), 92% with developmental disability/autism, yielded a total of 16,138 copy number variants (CNVs) averaging 4.2 per patient and qualified as benign (15,083 or 94%, most of size 11-99 kb), of uncertain significance (VUS, 216 or 1.3%, 0.5-0.75 Mb), or pathogenic (836 or 5.2%, 2-5 Mb).
Heterozygous Zinc Finger 469 Gene Changes Contribute to Ehlers-Danlos Syndrome, Hypermobile Type
This version is not peer-reviewed. You are already at the latest version The ZNF469 transcription factor and collagen-homologous matrix contributor, first related to recessively inherited brittle cornea syndrome, was found variant in 8 patients with Ehlers-Danlos syndrome and an additional 14 from the literature with related connective tissue findings.
Urogenital Findings in Ehlers-Danlos Syndrome Correlate with Underlying Tissue Laxity Mechanisms
1. Introduction Ehlers-Danlos Syndrome (EDS), traditionally defined by hypermobile joints and hyperelastic skin [1], is increasingly recognized as a multisystemic disease [2] associated with significant orthopedic [3] neuro-autonomic [4]-[7], and urogenital [8]-[10] complications. Recognition of the latter problems is particularly important given the greater hypermobility in women [2] and their 4 to 5-fold majority when EDS is systematically evaluated [11].
Similar Ehlers-Danlos Syndrome Profiles Produced by Variants in Multiple Collagen Genes
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Introduction to Special Issue: Genomic Analysis of Common Disease
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome)
All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.
CIMB | Free Full-Text | A Clinical Qualification Protocol Highlights Overlapping Genomic Influences and Neuro-Autonomic Mechanisms in Ehlers-Danlos and Long COVID-19 Syndromes
2. Materials and Methods 2.1. Patients The compilation of EDS patient findings profiles in Table S1 in Supplementary Materials and of the gene changes in Table S2 was performed through an observational/cross-sectional study biased by the physician- or self-referral of patients who had symptoms of EDS.
Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders
Demon Genes May Deform Common Syndromes: Collagen VI Gene Change in Down Syndrome Unifies the Medical and Molecular Approach to Hypermobility Disorders () 1. Introduction The approach from general to particular, so essential for Linnaean taxonomy and medical diagnosis, has now been applied to hypermobility as the avatar of diseases like Ehlers-Danlos syndrome (EDS, [1] [2] ).
Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions
Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions () 1. Introduction Many opportunities for prevention and management are afforded by recognizing patients with joint and tissue laxity [1] [2] [3] [4] , a group represented by the restrictive eponym Ehlers-Danlos syndrome (EDS), a term biased by patients with rare and extreme disease [5] .
Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder
Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder () 1. Introduction “What signifies knowing the Names, if you know not the Nature of Things?” [1] Few preventive health care opportunities are more powerful or less appreciated than those that attend recognition of tissue flexibility [2].
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