User profiles for A. Beaudet
Arthur BeaudetProfessor Baylor College of Medicine Verified email at bcm.edu Cited by 69766 |
Epigenetics and human disease
Y Jiang, J Bressler, AL Beaudet - Annu. Rev. Genomics Hum …, 2004 - annualreviews.org
▪ Abstract Epigenetics is comprised of the stable and heritable (or potentially heritable)
changes in gene expression that do not entail a change in DNA sequence. The role of …
changes in gene expression that do not entail a change in DNA sequence. The role of …
Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
P Stankiewicz, AL Beaudet - Current opinion in genetics & development, 2007 - Elsevier
The clinical implementation of array comparative genomic hybridization has revolutionized
the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple studies …
the diagnosis of patients with syndromic or nonsyndromic mental retardation. Multiple studies …
[HTML][HTML] Review of utility values for economic modeling in type 2 diabetes
A Beaudet, J Clegg, PO Thuresson, A Lloyd, P McEwan - Value in Health, 2014 - Elsevier
Objectives Economic analysis in type 2 diabetes mellitus (T2DM) requires an assessment of
the effect of a wide range of complications. The objective of this article was to identify a set …
the effect of a wide range of complications. The objective of this article was to identify a set …
[HTML][HTML] Integrative analysis of 111 reference human epigenomes
The reference human genome sequence set the stage for studies of genetic variation and
its association with human disease, but epigenomic studies lack a similar reference. To …
its association with human disease, but epigenomic studies lack a similar reference. To …
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant disorder characterized by
neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2–Megabase stretch of …
neurodegeneration of the cerebellum, spinal cord and brainstem. A 1.2–Megabase stretch of …
[HTML][HTML] Clinical whole-exome sequencing for the diagnosis of mendelian disorders
…, Y Ding, SE Plon, JR Lupski, AL Beaudet… - … England Journal of …, 2013 - Mass Medical Soc
Background Whole-exome sequencing is a diagnostic approach for the identification of
molecular defects in patients with suspected genetic disorders. Methods We developed technical…
molecular defects in patients with suspected genetic disorders. Methods We developed technical…
The NIH roadmap epigenomics mapping consortium
The NIH Roadmap Epigenomics Mapping Consortium aims to produce a public resource of
epigenomic maps for stem cells and primary ex vivo tissues selected to represent the normal …
epigenomic maps for stem cells and primary ex vivo tissues selected to represent the normal …
[PDF][PDF] Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism
We have undertaken a genome-wide analysis of rare copy-number variation (CNV) in 1124
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
autism spectrum disorder (ASD) families, each comprised of a single proband, unaffected …
[HTML][HTML] Chromosomal microarray versus karyotyping for prenatal diagnosis
…, A Patel, AN Lamb, EA Thom, AL Beaudet… - … England Journal of …, 2012 - Mass Medical Soc
Background Chromosomal microarray analysis has emerged as a primary diagnostic tool for
the evaluation of developmental delay and structural malformations in children. We aimed …
the evaluation of developmental delay and structural malformations in children. We aimed …
Molecular findings among patients referred for clinical whole-exome sequencing
…, M Bainbridge, A Patel, E Boerwinkle, AL Beaudet… - Jama, 2014 - jamanetwork.com
Importance Clinical whole-exome sequencing is increasingly used for diagnostic evaluation
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …
of patients with suspected genetic disorders. Objective To perform clinical whole-exome …