Anna C E Hurst
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Explore the profile of Anna C E Hurst including associated specialties, affiliations and a list of published articles.
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52
Citations
354
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Recent Articles
1.
McBride A, Cannon A, Prakash S, Roberts A, Seasely A, Hurst A, et al.
Prenat Diagn
. 2025 Feb;
PMID: 39953984
Objective: To investigate the current genetic counseling practices involving a cfDNA result indicating mosaic monosomy X of likely maternal origin, and to better understand the perspectives of patients who have...
2.
Gordon E, Felker S, Coleman T, Sosonkina N, Pugh J, Cochran M, et al.
Front Genet
. 2024 Dec;
15:1435734.
PMID: 39737004
Loeys-Dietz syndrome (LDS) is a connective tissue disorder representing a wide spectrum of phenotypes, ranging from isolated thoracic aortic aneurysm or dissection to a more severe syndromic presentation with multisystemic...
3.
Gao M, Chen Y, Lertwilaiwittaya P, Hurst A, Al-Beshri A, Carroll A, et al.
Am J Med Genet A
. 2024 Dec;
197(4):e63951.
PMID: 39622782
Aplastic anemia, characterized by pancytopenia and hypoplastic bone marrow, is associated with various acquired cytogenetic abnormalities, including trisomy 8, in 4%-15% of patients. Constitutional mosaic trisomy 8 notably increases the...
4.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Sep;
5(4):100337.
PMID: 39306848
No abstract available.
5.
Hiatt S, Lawlor J, Handley L, Latner D, Bonnstetter Z, Finnila C, et al.
Genome Res
. 2024 Sep;
34(11):1747-1762.
PMID: 39299904
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS can...
6.
Bartos M, Hurst A, Villa C
Am J Med Genet C Semin Med Genet
. 2024 Aug;
196(2-3):e32108.
PMID: 39152635
No abstract available.
7.
Hiatt S, Lawlor J, Handley L, Latner D, Bonnstetter Z, Finnila C, et al.
medRxiv
. 2024 Apr;
PMID: 38585854
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant detection from short-read genome sequencing (srGS). However, the rate at which lrGS...
8.
Haghshenas S, Bout H, Schijns J, Levy M, Kerkhof J, Bhai P, et al.
HGG Adv
. 2024 Mar;
5(3):100287.
PMID: 38553851
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein (p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation. Variants that produce a null allele or...
9.
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, et al.
Hum Genet
. 2024 Mar;
143(3):455-469.
PMID: 38526744
Neurons form the basic anatomical and functional structure of the nervous system, and defects in neuronal differentiation or formation of neurites are associated with various psychiatric and neurodevelopmental disorders. Dynamic...
10.
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Ha T, Morgan A, Bartos M, Beatty K, Cogne B, Braun D, et al.
Am J Med Genet A
. 2024 Feb;
194(7):e63559.
PMID: 38421105
The disconnected (disco)-interacting protein 2 (DIP2) gene was first identified in D. melanogaster and contains a DNA methyltransferase-associated protein 1 (DMAP1) binding domain, Acyl-CoA synthetase domain and AMP-binding sites. DIP2...