Brad Angle
Overview
Explore the profile of Brad Angle including associated specialties, affiliations and a list of published articles.
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Articles
31
Citations
851
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Recent Articles
11.
Beck D, Cho M, Millan F, Yates C, Hannibal M, OConnor B, et al.
Neurogenetics
. 2016 Apr;
17(3):173-8.
PMID: 27094857
Exome sequencing is an effective way to identify genetic causes of etiologically heterogeneous conditions such as developmental delay and intellectual disabilities. Using exome sequencing, we have identified four patients with...
12.
Krueger J, Piantino J, Smith C, Angle B, Venkatesan C, Wainwright M
Pediatrics
. 2014 Dec;
135(1):e202-6.
PMID: 25511120
Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy...
13.
Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, et al.
Eur J Hum Genet
. 2014 Nov;
23(9):1165-70.
PMID: 25424711
KAT6B sequence variants have been identified previously in both patients with the Say-Barber-Biesecker type of blepharophimosis mental retardation syndromes (SBBS) and in the more severe genitopatellar syndrome (GPS). We report...
14.
Weh E, Reis L, Happ H, Levin A, Wheeler P, David K, et al.
Hum Genet
. 2014 Sep;
133(12):1497-511.
PMID: 25182519
Peters anomaly is a rare form of anterior segment ocular dysgenesis, which can also be associated with additional systemic defects. At this time, the majority of cases of Peters anomaly...
15.
Stuart H, Roberts N, Hilton E, Mckenzie E, Daly S, Hadfield K, et al.
J Am Soc Nephrol
. 2014 Aug;
26(4):797-804.
PMID: 25145936
Urofacial syndrome (UFS) is an autosomal recessive congenital disease featuring grimacing and incomplete bladder emptying. Mutations of HPSE2, encoding heparanase 2, a heparanase 1 inhibitor, occur in UFS, but knowledge...
16.
Stockler-Ipsiroglu S, Van Karnebeek C, Longo N, Korenke G, Mercimek-Mahmutoglu S, Marquart I, et al.
Mol Genet Metab
. 2013 Nov;
111(1):16-25.
PMID: 24268530
We collected data on 48 patients from 38 families with guanidinoacetate methyltransferase (GAMT) deficiency. Global developmental delay/intellectual disability (DD/ID) with speech/language delay and behavioral problems as the most affected domains...
17.
Goldlust I, Hermetz K, Catalano L, Barfield R, Cozad R, Wynn G, et al.
Proc Natl Acad Sci U S A
. 2013 Aug;
110(37):14990-4.
PMID: 23980137
Obesity is a highly heritable condition and a risk factor for other diseases, including type 2 diabetes, cardiovascular disease, hypertension, and cancer. Recently, genomic copy number variation (CNV) has been...
18.
Girirajan S, Rosenfeld J, Coe B, Parikh S, Friedman N, Goldstein A, et al.
N Engl J Med
. 2012 Sep;
367(14):1321-31.
PMID: 22970919
Background: Some copy-number variants are associated with genomic disorders with extreme phenotypic heterogeneity. The cause of this variation is unknown, which presents challenges in genetic diagnosis, counseling, and management. Methods:...
19.
Pena L, Angle B, Burton B, Charrow J
Genet Med
. 2012 Jan;
14(3):342-7.
PMID: 22241096
Purpose: To evaluate the growth, development, and medical histories of children with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening. Methods: Chart review of patients diagnosed with...
20.
DCunha Burkardt D, Rosenfeld J, Helgeson M, Angle B, Banks V, Smith W, et al.
Am J Med Genet A
. 2011 May;
155A(6):1336-51.
PMID: 21548129
Reports of individuals with deletions of 1q24→q25 share common features of prenatal onset growth deficiency, microcephaly, small hands and feet, dysmorphic face and severe cognitive deficits. We report nine individuals...