Brad Angle
Overview
Explore the profile of Brad Angle including associated specialties, affiliations and a list of published articles.
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31
Citations
851
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Recent Articles
1.
Picketts D, Mirzaa G, Yan K, Relator R, Timpano S, Yalcin B, et al.
Res Sq
. 2023 Oct;
PMID: 37841849
Pathogenic variants in ATP-dependent chromatin remodeling proteins are a recurrent cause of neurodevelopmental disorders (NDDs). The NURF complex consists of BPTF and either the SNF2H () or SNF2L () ISWI-chromatin...
2.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2023 Sep;
25(11):100962.
PMID: 37658852
No abstract available.
3.
de Boer E, Ockeloen C, Kampen R, Hampstead J, Dingemans A, Rots D, et al.
Genet Med
. 2022 Jul;
24(10):2051-2064.
PMID: 35833929
Purpose: Although haploinsufficiency of ANKRD11 is among the most common genetic causes of neurodevelopmental disorders, the role of rare ANKRD11 missense variation remains unclear. We characterized clinical, molecular, and functional...
4.
Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman J, Angle B, et al.
Prenat Diagn
. 2020 Jun;
40(10):1246-1257.
PMID: 32474937
Background: Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four...
5.
Granadillo J, Stegmann A, Guo H, Xia K, Angle B, Bontempo K, et al.
J Med Genet
. 2020 Mar;
57(10):717-724.
PMID: 32152250
Background: Rare variants in hundreds of genes have been implicated in developmental delay (DD), intellectual disability (ID) and neurobehavioural phenotypes. encodes a protein important for RNA silencing. Heterozygous truncating variants...
6.
Amudhavalli S, Hanson R, Angle B, Bontempo K, Gripp K
Am J Med Genet A
. 2018 Aug;
176(7):1648-1656.
PMID: 30160832
Aymé-Gripp syndrome (AGS) is an autosomal dominant multisystem disorder caused by specific heterozygous variants in MAF. The resulting aberrant protein shows impaired GSK-mediated MAF phosphorylation. AGS is characterized by congenital...
7.
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome
Zarate Y, Smith-Hicks C, Greene C, Abbott M, Siu V, Calhoun A, et al.
Am J Med Genet A
. 2018 Feb;
176(4):925-935.
PMID: 29436146
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to...
8.
Yokote K, Chanprasert S, Lee L, Eirich K, Takemoto M, Watanabe A, et al.
Hum Mutat
. 2016 Sep;
38(1):7-15.
PMID: 27667302
Werner syndrome (WS) is a rare autosomal recessive disorder characterized by a constellation of adult onset phenotypes consistent with an acceleration of intrinsic biological aging. It is caused by pathogenic...
9.
Venkatesan C, Angle B, Millichap J
Epileptic Disord
. 2016 Jun;
18(2):195-200.
PMID: 27248490
Advances in genetic testing have led to the identification of increasing numbers of novel gene mutations that underlie infantile-onset epileptic encephalopathies. Recently, a mutagenesis screen identified a novel gene, SZT2,...
10.
Millan F, Cho M, Retterer K, Monaghan K, Bai R, Vitazka P, et al.
Am J Med Genet A
. 2016 May;
170(7):1791-8.
PMID: 27133397
Neurodevelopmental disorders (NDD) are common, with 1-3% of general population being affected, but the etiology is unknown in most individuals. Clinical whole-exome sequencing (WES) has proven to be a powerful...